Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26175
Gene name	Lysosomal enzyme trafficking factor
Gene symbol	LYSET
Synonyms (NCBI Gene)	C14orf109DMANGCAFTMEM251
Chromosome	14
Chromosome location	14q32.12

Show/Hide all (96)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000823	hsa-miR-15a-5p	Microarray	18362358
MIRT000822	hsa-miR-16-5p	Microarray	18362358
MIRT628607	hsa-miR-1245b-5p	HITS-CLIP	23824327
MIRT628606	hsa-miR-3142	HITS-CLIP	23824327
MIRT628605	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT628604	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT628603	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT628602	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT628601	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT628600	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT628599	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT628598	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT628597	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT628596	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT628595	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT628594	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT628593	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT628592	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT628591	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT628590	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT628589	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT628588	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT628587	hsa-miR-3689c	HITS-CLIP	23824327
MIRT628586	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT628585	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT628584	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT628583	hsa-miR-3122	HITS-CLIP	23824327
MIRT628582	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT628581	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT628580	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT444795	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT444794	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT444793	hsa-miR-3163	PAR-CLIP	22100165
MIRT444792	hsa-miR-4695-3p	PAR-CLIP	22100165
MIRT444791	hsa-miR-7641	PAR-CLIP	22100165
MIRT444790	hsa-miR-568	PAR-CLIP	22100165
MIRT444802	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444801	hsa-miR-6758-5p	PAR-CLIP	22100165
MIRT444800	hsa-miR-6856-5p	PAR-CLIP	22100165
MIRT444799	hsa-miR-1225-3p	PAR-CLIP	22100165
MIRT444798	hsa-miR-1233-3p	PAR-CLIP	22100165
MIRT444797	hsa-miR-766-5p	PAR-CLIP	22100165
MIRT444796	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT444795	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT444794	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT444793	hsa-miR-3163	PAR-CLIP	22100165
MIRT444792	hsa-miR-4695-3p	PAR-CLIP	22100165
MIRT444791	hsa-miR-7641	PAR-CLIP	22100165
MIRT444790	hsa-miR-568	PAR-CLIP	22100165
MIRT628607	hsa-miR-1245b-5p	HITS-CLIP	23824327
MIRT628606	hsa-miR-3142	HITS-CLIP	23824327
MIRT628605	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT628604	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT628603	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT628602	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT628601	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT628600	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT628599	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT628598	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT628597	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT628596	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT628595	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT628594	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT628593	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT628592	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT628591	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT628590	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT628589	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT628588	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT628587	hsa-miR-3689c	HITS-CLIP	23824327
MIRT628586	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT628585	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT628584	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT628583	hsa-miR-3122	HITS-CLIP	23824327
MIRT628582	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT628581	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT628580	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT444795	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT444794	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT444793	hsa-miR-3163	PAR-CLIP	22100165
MIRT444792	hsa-miR-4695-3p	PAR-CLIP	22100165
MIRT444791	hsa-miR-7641	PAR-CLIP	22100165
MIRT444790	hsa-miR-568	PAR-CLIP	22100165
MIRT444802	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444801	hsa-miR-6758-5p	PAR-CLIP	22100165
MIRT444800	hsa-miR-6856-5p	PAR-CLIP	22100165
MIRT444799	hsa-miR-1225-3p	PAR-CLIP	22100165
MIRT444798	hsa-miR-1233-3p	PAR-CLIP	22100165
MIRT444797	hsa-miR-766-5p	PAR-CLIP	22100165
MIRT444796	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT444795	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT444794	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT444793	hsa-miR-3163	PAR-CLIP	22100165
MIRT444792	hsa-miR-4695-3p	PAR-CLIP	22100165
MIRT444791	hsa-miR-7641	PAR-CLIP	22100165
MIRT444790	hsa-miR-568	PAR-CLIP	22100165

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	36074821
GO:0005794	Component	Golgi apparatus	IDA	33252156
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006622	Process	Protein targeting to lysosome	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007040	Process	Lysosome organization	IMP	36096887
GO:0007041	Process	Lysosomal transport	IMP	36074821, 36074822
GO:0009615	Process	Response to virus	IEA
GO:0016020	Component	Membrane	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031985	Component	Golgi cisterna	IDA	36074821
GO:0046907	Process	Intracellular transport	IEA
GO:0060627	Process	Regulation of vesicle-mediated transport	IMP	36074822

MIM	HGNC	e!Ensembl
619332	20218	ENSG00000153485

Q8N6I4

Protein name

Lysosomal enzyme trafficking factor (GNPTAB cleavage and activity factor) (GCAF) (Transmembrane protein 251)

Protein function

Required for mannose-6-phosphate-dependent trafficking of lysosomal enzymes (PubMed:36074821, PubMed:36074822, PubMed:36096887). LYSET bridges GlcNAc-1-phosphate transferase (GNPTAB), to the membrane-bound transcription factor site-1 protease (M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15190	TMEM251	34 → 161	Transmembrane protein 251	Family

Sequence

MPKPPDYSELSDSLTLAVGTGRFSGPLHRAWRMMNFRQRMGWIGVGLYLLASAAAFYYVF
EISETYNRLALEHIQQHPEEPLEGTTWTHSLKAQLLSLPFWVWTVIFLVPYLQMFLFLYS
CTRADPKTVGYCIIPICLAVICNRHQAFVKASNQISRLQLIDT

Sequence length

163

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dysostosis multiplex, Ain-Naz type	Pathogenic; Likely pathogenic	rs2140085425, rs1291335611	RCV001449657 RCV001449658	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1894051550	RCV001093593	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYSET-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37740762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

LYSET (lysosomal enzyme trafficking factor)