PEX5 (peroxisomal biogenesis factor 5)

Gene

• Entrez ID: 5830
• Gene name: Peroxisomal biogenesis factor 5
• Gene symbol: PEX5
• Synonyms (NCBI Gene): PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxis

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61752137	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs61752138	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111286659	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs115760878	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs138205085	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs138243167	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs142408719	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs143571888	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs144165818	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs144331955	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs145690714	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs148914171	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs149102738	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs151312595	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs189631769	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs376699778	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs541455903	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, intron variant
rs747216258	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs748956654	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs796051881	->A	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs886041656	GAA>TC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs932238098	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1064793563	G>A	Pathogenic	Splice acceptor variant
rs1085307998	G>A	Likely-pathogenic	Intron variant
rs1555176945	A>G	Pathogenic	Splice acceptor variant
rs1565673352	G>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050469	hsa-miR-22-3p	CLASH	23622248
MIRT050249	hsa-miR-25-3p	CLASH	23622248
MIRT1225965	hsa-miR-1224-5p	CLIP-seq
MIRT1225966	hsa-miR-1272	CLIP-seq
MIRT1225967	hsa-miR-1275	CLIP-seq
MIRT1225968	hsa-miR-1290	CLIP-seq
MIRT1225969	hsa-miR-141	CLIP-seq
MIRT1225970	hsa-miR-15a	CLIP-seq
MIRT1225971	hsa-miR-15b	CLIP-seq
MIRT1225972	hsa-miR-16	CLIP-seq
MIRT1225973	hsa-miR-195	CLIP-seq
MIRT1225974	hsa-miR-200a	CLIP-seq
MIRT1225975	hsa-miR-29a	CLIP-seq
MIRT1225976	hsa-miR-29b	CLIP-seq
MIRT1225977	hsa-miR-29c	CLIP-seq
MIRT1225978	hsa-miR-3065-3p	CLIP-seq
MIRT1225979	hsa-miR-31	CLIP-seq
MIRT1225980	hsa-miR-3126-3p	CLIP-seq
MIRT1225981	hsa-miR-3128	CLIP-seq
MIRT1225982	hsa-miR-3153	CLIP-seq
MIRT1225983	hsa-miR-3188	CLIP-seq
MIRT1225984	hsa-miR-3591-5p	CLIP-seq
MIRT1225985	hsa-miR-3677-3p	CLIP-seq
MIRT1225986	hsa-miR-424	CLIP-seq
MIRT1225987	hsa-miR-425	CLIP-seq
MIRT1225988	hsa-miR-4253	CLIP-seq
MIRT1225989	hsa-miR-4274	CLIP-seq
MIRT1225990	hsa-miR-4280	CLIP-seq
MIRT1225991	hsa-miR-4314	CLIP-seq
MIRT1225992	hsa-miR-4447	CLIP-seq
MIRT1225993	hsa-miR-4472	CLIP-seq
MIRT1225994	hsa-miR-4519	CLIP-seq
MIRT1225995	hsa-miR-4524	CLIP-seq
MIRT1225996	hsa-miR-4525	CLIP-seq
MIRT1225997	hsa-miR-4665-5p	CLIP-seq
MIRT1225998	hsa-miR-4667-5p	CLIP-seq
MIRT1225999	hsa-miR-4700-3p	CLIP-seq
MIRT1226000	hsa-miR-4700-5p	CLIP-seq
MIRT1226001	hsa-miR-4720-5p	CLIP-seq
MIRT1226002	hsa-miR-4723-5p	CLIP-seq
MIRT1226003	hsa-miR-4724-5p	CLIP-seq
MIRT1226004	hsa-miR-4744	CLIP-seq
MIRT1226005	hsa-miR-4751	CLIP-seq
MIRT1226006	hsa-miR-4761-3p	CLIP-seq
MIRT1226007	hsa-miR-4796-3p	CLIP-seq
MIRT1226008	hsa-miR-4799-3p	CLIP-seq
MIRT1226009	hsa-miR-497	CLIP-seq
MIRT1226010	hsa-miR-548n	CLIP-seq
MIRT1226011	hsa-miR-548t	CLIP-seq
MIRT1226012	hsa-miR-548u	CLIP-seq
MIRT1226013	hsa-miR-584	CLIP-seq
MIRT1226014	hsa-miR-615-5p	CLIP-seq
MIRT1226015	hsa-miR-625	CLIP-seq
MIRT1226016	hsa-miR-637	CLIP-seq
MIRT1226017	hsa-miR-642b	CLIP-seq
MIRT2066020	hsa-miR-1470	CLIP-seq
MIRT2066021	hsa-miR-25	CLIP-seq
MIRT2066022	hsa-miR-32	CLIP-seq
MIRT2066023	hsa-miR-363	CLIP-seq
MIRT2066024	hsa-miR-367	CLIP-seq
MIRT2066025	hsa-miR-4310	CLIP-seq
MIRT2066026	hsa-miR-4313	CLIP-seq
MIRT2066027	hsa-miR-4667-3p	CLIP-seq
MIRT2066028	hsa-miR-4690-3p	CLIP-seq
MIRT1225999	hsa-miR-4700-3p	CLIP-seq
MIRT2066029	hsa-miR-4707-3p	CLIP-seq
MIRT2066030	hsa-miR-4711-5p	CLIP-seq
MIRT2066031	hsa-miR-4747-3p	CLIP-seq
MIRT2066032	hsa-miR-4759	CLIP-seq
MIRT2066033	hsa-miR-513a-5p	CLIP-seq
MIRT1226013	hsa-miR-584	CLIP-seq
MIRT1226017	hsa-miR-642b	CLIP-seq
MIRT2066034	hsa-miR-877	CLIP-seq
MIRT2066035	hsa-miR-92a	CLIP-seq
MIRT2066036	hsa-miR-92b	CLIP-seq
MIRT2293658	hsa-miR-1178	CLIP-seq
MIRT2293659	hsa-miR-1224-3p	CLIP-seq
MIRT2293660	hsa-miR-1236	CLIP-seq
MIRT2293661	hsa-miR-1260	CLIP-seq
MIRT2293662	hsa-miR-1260b	CLIP-seq
MIRT1225967	hsa-miR-1275	CLIP-seq
MIRT2293663	hsa-miR-1280	CLIP-seq
MIRT2293664	hsa-miR-1324	CLIP-seq
MIRT2293665	hsa-miR-143	CLIP-seq
MIRT2066020	hsa-miR-1470	CLIP-seq
MIRT2293666	hsa-miR-2110	CLIP-seq
MIRT2293667	hsa-miR-2114	CLIP-seq
MIRT2066021	hsa-miR-25	CLIP-seq
MIRT2293668	hsa-miR-3120-3p	CLIP-seq
MIRT2293669	hsa-miR-3150a-3p	CLIP-seq
MIRT2293670	hsa-miR-3157-5p	CLIP-seq
MIRT2293671	hsa-miR-3175	CLIP-seq
MIRT2293672	hsa-miR-3182	CLIP-seq
MIRT2293673	hsa-miR-3197	CLIP-seq
MIRT2066022	hsa-miR-32	CLIP-seq
MIRT2293674	hsa-miR-320e	CLIP-seq
MIRT2293675	hsa-miR-361-5p	CLIP-seq
MIRT2066023	hsa-miR-363	CLIP-seq
MIRT2066024	hsa-miR-367	CLIP-seq
MIRT2293676	hsa-miR-3670	CLIP-seq
MIRT2293677	hsa-miR-3682-3p	CLIP-seq
MIRT2293678	hsa-miR-378	CLIP-seq
MIRT2293679	hsa-miR-378b	CLIP-seq
MIRT2293680	hsa-miR-378c	CLIP-seq
MIRT2293681	hsa-miR-378d	CLIP-seq
MIRT2293682	hsa-miR-378e	CLIP-seq
MIRT2293683	hsa-miR-378f	CLIP-seq
MIRT2293684	hsa-miR-378h	CLIP-seq
MIRT2293685	hsa-miR-378i	CLIP-seq
MIRT2293686	hsa-miR-422a	CLIP-seq
MIRT1225987	hsa-miR-425	CLIP-seq
MIRT2293687	hsa-miR-4260	CLIP-seq
MIRT2066025	hsa-miR-4310	CLIP-seq
MIRT2293688	hsa-miR-4502	CLIP-seq
MIRT1225996	hsa-miR-4525	CLIP-seq
MIRT1225997	hsa-miR-4665-5p	CLIP-seq
MIRT2066027	hsa-miR-4667-3p	CLIP-seq
MIRT2293689	hsa-miR-4691-3p	CLIP-seq
MIRT1225999	hsa-miR-4700-3p	CLIP-seq
MIRT2066030	hsa-miR-4711-5p	CLIP-seq
MIRT1226002	hsa-miR-4723-5p	CLIP-seq
MIRT2066031	hsa-miR-4747-3p	CLIP-seq
MIRT2066032	hsa-miR-4759	CLIP-seq
MIRT2293690	hsa-miR-4762-3p	CLIP-seq
MIRT2293691	hsa-miR-4768-3p	CLIP-seq
MIRT2293692	hsa-miR-4770	CLIP-seq
MIRT2293693	hsa-miR-498	CLIP-seq
MIRT2066033	hsa-miR-513a-5p	CLIP-seq
MIRT2293694	hsa-miR-532-3p	CLIP-seq
MIRT2293695	hsa-miR-545	CLIP-seq
MIRT2293696	hsa-miR-554	CLIP-seq
MIRT1226013	hsa-miR-584	CLIP-seq
MIRT1226015	hsa-miR-625	CLIP-seq
MIRT1226017	hsa-miR-642b	CLIP-seq
MIRT2293697	hsa-miR-665	CLIP-seq
MIRT2066034	hsa-miR-877	CLIP-seq
MIRT2293698	hsa-miR-885-3p	CLIP-seq
MIRT2066035	hsa-miR-92a	CLIP-seq
MIRT2066036	hsa-miR-92b	CLIP-seq
MIRT2293699	hsa-miR-939	CLIP-seq
MIRT2456274	hsa-miR-216b	CLIP-seq
MIRT2456275	hsa-miR-3921	CLIP-seq
MIRT2456276	hsa-miR-4653-5p	CLIP-seq
MIRT2456277	hsa-miR-548c-3p	CLIP-seq
MIRT2293658	hsa-miR-1178	CLIP-seq
MIRT2066021	hsa-miR-25	CLIP-seq
MIRT2066022	hsa-miR-32	CLIP-seq
MIRT2066023	hsa-miR-363	CLIP-seq
MIRT2591721	hsa-miR-3668	CLIP-seq
MIRT2066024	hsa-miR-367	CLIP-seq
MIRT2591722	hsa-miR-3685	CLIP-seq
MIRT2591723	hsa-miR-384	CLIP-seq
MIRT2591724	hsa-miR-3914	CLIP-seq
MIRT2591725	hsa-miR-3924	CLIP-seq
MIRT2066025	hsa-miR-4310	CLIP-seq
MIRT1225999	hsa-miR-4700-3p	CLIP-seq
MIRT2066030	hsa-miR-4711-5p	CLIP-seq
MIRT2066032	hsa-miR-4759	CLIP-seq
MIRT2591726	hsa-miR-4773	CLIP-seq
MIRT2066033	hsa-miR-513a-5p	CLIP-seq
MIRT1226017	hsa-miR-642b	CLIP-seq
MIRT2066035	hsa-miR-92a	CLIP-seq
MIRT2066036	hsa-miR-92b	CLIP-seq
MIRT2293658	hsa-miR-1178	CLIP-seq
MIRT2687656	hsa-miR-126	CLIP-seq
MIRT2687657	hsa-miR-1304	CLIP-seq
MIRT2687658	hsa-miR-1323	CLIP-seq
MIRT2687659	hsa-miR-1827	CLIP-seq
MIRT2066021	hsa-miR-25	CLIP-seq
MIRT2687660	hsa-miR-3065-5p	CLIP-seq
MIRT1225979	hsa-miR-31	CLIP-seq
MIRT1225980	hsa-miR-3126-3p	CLIP-seq
MIRT1225981	hsa-miR-3128	CLIP-seq
MIRT2687661	hsa-miR-3140-5p	CLIP-seq
MIRT2293670	hsa-miR-3157-5p	CLIP-seq
MIRT2687662	hsa-miR-3194-3p	CLIP-seq
MIRT2066022	hsa-miR-32	CLIP-seq
MIRT2066023	hsa-miR-363	CLIP-seq
MIRT2687663	hsa-miR-3663-3p	CLIP-seq
MIRT2591721	hsa-miR-3668	CLIP-seq
MIRT2066024	hsa-miR-367	CLIP-seq
MIRT2293676	hsa-miR-3670	CLIP-seq
MIRT2591722	hsa-miR-3685	CLIP-seq
MIRT2591723	hsa-miR-384	CLIP-seq
MIRT2591724	hsa-miR-3914	CLIP-seq
MIRT2591725	hsa-miR-3924	CLIP-seq
MIRT2066025	hsa-miR-4310	CLIP-seq
MIRT2687664	hsa-miR-4325	CLIP-seq
MIRT2687665	hsa-miR-4539	CLIP-seq
MIRT2687666	hsa-miR-4660	CLIP-seq
MIRT2293689	hsa-miR-4691-3p	CLIP-seq
MIRT1225999	hsa-miR-4700-3p	CLIP-seq
MIRT2066030	hsa-miR-4711-5p	CLIP-seq
MIRT1226001	hsa-miR-4720-5p	CLIP-seq
MIRT2066032	hsa-miR-4759	CLIP-seq
MIRT2293690	hsa-miR-4762-3p	CLIP-seq
MIRT2687667	hsa-miR-4766-5p	CLIP-seq
MIRT2293691	hsa-miR-4768-3p	CLIP-seq
MIRT2591726	hsa-miR-4773	CLIP-seq
MIRT1226008	hsa-miR-4799-3p	CLIP-seq
MIRT2687668	hsa-miR-483-3p	CLIP-seq
MIRT2687669	hsa-miR-488	CLIP-seq
MIRT2687670	hsa-miR-512-5p	CLIP-seq
MIRT2066033	hsa-miR-513a-5p	CLIP-seq
MIRT2687671	hsa-miR-548o	CLIP-seq
MIRT1226013	hsa-miR-584	CLIP-seq
MIRT1226017	hsa-miR-642b	CLIP-seq
MIRT2293697	hsa-miR-665	CLIP-seq
MIRT2687672	hsa-miR-767-3p	CLIP-seq
MIRT2066035	hsa-miR-92a	CLIP-seq
MIRT2066036	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IEA
GO:0000268	Function	Peroxisome targeting sequence binding	IDA	18346465
GO:0000425	Process	Pexophagy	IDA	27597759
GO:0000425	Process	Pexophagy	IDA	26344566
GO:0001764	Process	Neuron migration	IEA
GO:0005052	Function	Peroxisome matrix targeting signal-1 binding	IBA
GO:0005052	Function	Peroxisome matrix targeting signal-1 binding	IDA	7719337, 10514471, 11463335, 12456682, 17157249, 21976670, 26344566
GO:0005052	Function	Peroxisome matrix targeting signal-1 binding	IMP	9668159
GO:0005052	Function	Peroxisome matrix targeting signal-1 binding	IPI	21375735
GO:0005515	Function	Protein binding	IPI	8858165, 9653144, 9820813, 10022913, 10514471, 10562279, 10837480, 11546814, 12096124, 12488033, 15911627, 19197237, 19584060, 21044950, 21525035, 22529745, 24235149, 25416956, 25538232, 26344566, 26871637, 32296183
GO:0005737	Component	Cytoplasm	IDA	10514471
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005777	Component	Peroxisome	IDA	7719337, 11829486, 21375735
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005782	Component	Peroxisomal matrix	IC	24662292
GO:0005782	Component	Peroxisomal matrix	IDA	11546814, 16314507, 24662292
GO:0005782	Component	Peroxisomal matrix	IDA	11336669
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	IMP	33389129
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	16314507, 25538232
GO:0005829	Component	Cytosol	IDA	7719337, 11336669
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006513	Process	Protein monoubiquitination	IDA	27597759
GO:0006513	Process	Protein monoubiquitination	ISS	35768507
GO:0006625	Process	Protein targeting to peroxisome	IDA	21375735
GO:0006625	Process	Protein targeting to peroxisome	IMP	9668159
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007006	Process	Mitochondrial membrane organization	IEA
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0007031	Process	Peroxisome organization	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IDA	10514471
GO:0016558	Process	Protein import into peroxisome matrix	IDA	11546814, 16314507, 17157249, 21976670, 24235149, 24662292, 25538232, 26344566
GO:0016558	Process	Protein import into peroxisome matrix	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IGI	11931631, 18346465
GO:0016558	Process	Protein import into peroxisome matrix	IMP	11463335, 33389129
GO:0016558	Process	Protein import into peroxisome matrix	NAS	10514471
GO:0016560	Process	Protein import into peroxisome matrix, docking	IBA
GO:0016560	Process	Protein import into peroxisome matrix, docking	IDA	21976670
GO:0016561	Process	Protein import into peroxisome matrix, translocation	IDA	7719337, 11336669
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16854980, 19208625, 24662292
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	11336669, 22371489, 29884772
GO:0019899	Function	Enzyme binding	IPI	11060344, 11669066
GO:0021795	Process	Cerebral cortex cell migration	IEA
GO:0021895	Process	Cerebral cortex neuron differentiation	IEA
GO:0031267	Function	Small GTPase binding	IPI	18346465
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IDA	21976670
GO:0032991	Component	Protein-containing complex	IDA	19584060
GO:0033328	Function	Peroxisome membrane targeting sequence binding	IPI	21976670
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	26344566
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	26344566
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0043335	Process	Protein unfolding	IDA	16854980
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	IC	25538232
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	IDA	26344566
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	ISS	35768507
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	ISS
GO:0045046	Process	Protein import into peroxisome membrane	IMP	14709540
GO:0048468	Process	Cell development	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051262	Process	Protein tetramerization	IDA	12456682
GO:0140597	Function	Protein carrier chaperone	IDA	11546814, 16314507, 17157249, 21976670, 24235149, 24662292, 25538232, 26344566, 28765278
GO:0140597	Function	Protein carrier chaperone	IMP	33389129

Other IDs

• MIM: 600414
• HGNC: 9719
• e!Ensembl: ENSG00000139197

Protein

• UniProt ID: P50542
• Protein name: Peroxisomal targeting signal 1 receptor (PTS1 receptor) (PTS1R) (PTS1-BP) (Peroxin-5) (Peroxisomal C-terminal targeting signal import receptor) (Peroxisome receptor 1)
• Protein function: Receptor that mediates peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) (PubMed:11101887, PubMed:11336669, PubMed:12456682, PubMed:16314507, PubMed:17157249, PubMed:17428317, Pub
• PDB: 1FCH, 2C0L, 2C0M, 2J9Q, 2W84, 3R9A, 4BXU, 4KXK, 4KYO, 7Z0K, 9GAG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13432	TPR_16	339 → 403		Family
  PF13181	TPR_8	556 → 589	Tetratricopeptide repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:7706321, ECO:0000269|PubMed:7719337, ECO:0000269|PubMed:7790377}.
• Sequence:

  MAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASED
  ELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQ
  EFLAAGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTA
  TDRWYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKFVRQIGEGQVSLESGAGSGRAQA
  EQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIESDVDFWDKLQAELEEMAK
  RDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEA
  AVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQR
  QACETLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVR
  LDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEE
  AVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMS
  ENIWSTLRLALSMLGQSDAYGAADARDLSTLLTMFGLPQ

• Sequence length: 639

Pathways

KEGG:

Peroxisome

Reactome:

E3 ubiquitin ligases ubiquitinate target proteins
Peroxisomal protein import
Pexophagy

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs2136151586	RCV001814399	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder	Likely pathogenic; Pathogenic	rs2540160367, rs61752138	RCV003486488 RCV004587570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder 2A (Zellweger)	Likely pathogenic; Pathogenic	rs2135880243, rs777735499, rs1419213790, rs751148574, rs61752138, rs61752137, rs749342175, rs2136226194	RCV002497920 RCV005006310 RCV005002815 RCV005011022 RCV000723322 RCV000009715 RCV003333368 RCV005013082 RCV005013232	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 2B	Pathogenic; Likely pathogenic	rs2136075415, rs2136243209, rs1731078730, rs2136151586, rs2135903939, rs2135880243, rs2136158689, rs1374334296, rs777735499, rs2136176386, rs2135879026, rs1300934931, rs2136254229, rs890363450, rs2136254746, rs2136074154, rs1419213790, rs1591759567, rs267608194, rs2540148055, rs751148574, rs2540182543, rs1468724704, rs1941153600, rs2540040738, rs2540182221, rs2539799070, rs2540276834, rs2539798184, rs2540275433, rs61752138, rs61752137, rs749342175, rs2539799464, rs1425522784, rs2540322042, rs2539799335, rs2540292773, rs2539797147, rs2540125931, rs759789707, rs767347186, rs2136226194, rs2540040198, rs769741088, rs2540277461, rs2540148926, rs2540148386, rs2540296604, rs2539802789, rs2539801815, rs1064793563, rs1565673352, rs1941140792, rs777733574	RCV001388188 RCV001385066 RCV001382932 RCV003603095 RCV002014359 RCV001995359 RCV001901996 RCV001975197 RCV002037839 RCV002000238 RCV001960744 RCV001953424 RCV002017089 RCV001951290 RCV001952086 RCV001975087 RCV002273017 RCV003076785 RCV003037442 RCV003061180 RCV002595253 RCV003121401 RCV003106950 RCV002819690 RCV002812136 RCV002833749 RCV002877141 RCV002910001 RCV003008926 RCV003000217 RCV000009714 RCV001381490 RCV003333367 RCV003498994 RCV003499021 RCV003497740 RCV003497350 RCV003497823 RCV003498515 RCV003499386 RCV003499390 RCV003603204 RCV003603416 RCV003604036 RCV003604029 RCV003604343 RCV003604482 RCV003604470 RCV003604474 RCV003602710 RCV003602838 RCV003839293 RCV002526533 RCV000795747 RCV001208551 RCV001213622	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder due to PEX5 defect	Likely pathogenic	rs1337097694	RCV002790001	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEX5-related disorder	Likely pathogenic; Pathogenic	rs1555176945, rs777733574	RCV004689804 RCV004749624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhizomelic chondrodysplasia punctata	Pathogenic	rs796051881	RCV000186575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhizomelic chondrodysplasia punctata type 5	Likely pathogenic; Pathogenic	rs2135880243, rs777735499, rs1419213790, rs796051881, rs751148574, rs61752138, rs61752137, rs749342175, rs2136226194, rs2540339398	RCV002497920 RCV005006310 RCV005002815 RCV000202646 RCV005011022 RCV004813031 RCV005007835 RCV003333369 RCV005013082 RCV005013232 RCV003991962	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Zellweger spectrum disorders	Likely pathogenic; Pathogenic	rs267608194	RCV004017960	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 1A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 2A	—	CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	BEFREE	7790377		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG	26220973		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32373215	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22782350	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	CLINVAR_DG	26220973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	BEFREE	27616591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	10357777		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	CLINVAR_DG	26220973		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG	26220973		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	17317787		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	17317787		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Refsum disease	Refsum Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25224142, 29054092		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25224142, 29054092		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mulibrey Nanism	Mulibrey Nanism	BEFREE	28724525		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal adrenoleukodystrophy	Adrenoleukodystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG	26220973		★☆☆☆☆ Found in Text Mining only
Peroxisomal Disorders	Peroxisomal disorder	Pubtator	7790377	Associate	★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG	7719337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG	18712838, 24357685, 26220973, 27290639, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)	Zellweger Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)	Zellweger Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 2B	Zellweger Syndrome	UNIPROT_DG	10462504, 7719337		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 2B	Zellweger Syndrome	GENOMICS_ENGLAND_DG	24357685, 26220973, 27290639, 27604308, 7719337		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 2B	Zellweger Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 2B	Zellweger Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 3B	Zellweger Syndrome	GENOMICS_ENGLAND_DG	7719337		★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	18712838, 28521612, 7719337, 8993569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Peroxisome biogenesis disorder	Pubtator	28521612, 34356630	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polar cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhizomelic chondrodysplasia punctata type 5	Rhizomelic Chondrodysplasia Punctata	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	Rhizomelic chondrodysplasia punctata	BEFREE	26220973		★☆☆☆☆ Found in Text Mining only
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5	Rhizomelic chondrodysplasia punctata	GENOMICS_ENGLAND_DG	18712838, 26220973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5	Rhizomelic chondrodysplasia punctata	ORPHANET_DG	26220973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5	Rhizomelic chondrodysplasia punctata	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5	Rhizomelic chondrodysplasia punctata	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG	26220973		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Nystagmus	Vertical nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	BEFREE	17399738, 26220973		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	12740819, 29622767, 7790377		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	LHGDN	17399738		★☆☆☆☆ Found in Text Mining only
Zellweger syndrome	Zellweger Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only