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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11154
Gene name	Adaptor related protein complex 4 subunit sigma 1
Gene symbol	AP4S1
Synonyms (NCBI Gene)	AP47BCLA20CLAPS4CPSQ6SPG52
Chromosome	14
Chromosome location	14q12
Summary	This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle form

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147135554	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200440467	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs200969079	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant, 3 prime UTR variant
rs377679827	T>G	Likely-pathogenic	Splice donor variant
rs387906970	C>A,G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Synonymous variant, coding sequence variant, missense variant, stop gained
rs563687343	G>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs568176223	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs754944359	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs755820725	T>A,C	Likely-pathogenic	Initiator codon variant, missense variant
rs876661295	AAGT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs886041127	G>C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1335804396	T>C	Likely-pathogenic	Missense variant, coding sequence variant

150

Show/Hide all (150)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046536	hsa-miR-15b-5p	CLASH	23622248
MIRT529796	hsa-miR-4318	PAR-CLIP	22012620
MIRT529795	hsa-miR-892a	PAR-CLIP	22012620
MIRT529794	hsa-miR-4715-5p	PAR-CLIP	22012620
MIRT529793	hsa-miR-4259	PAR-CLIP	22012620
MIRT529792	hsa-miR-2116-3p	PAR-CLIP	22012620
MIRT529791	hsa-miR-5008-3p	PAR-CLIP	22012620
MIRT529790	hsa-miR-6737-3p	PAR-CLIP	22012620
MIRT529789	hsa-miR-7157-3p	PAR-CLIP	22012620
MIRT529788	hsa-miR-3650	PAR-CLIP	22012620
MIRT529787	hsa-miR-4703-3p	PAR-CLIP	22012620
MIRT529786	hsa-miR-4711-3p	PAR-CLIP	22012620
MIRT529785	hsa-miR-4693-5p	PAR-CLIP	22012620
MIRT529784	hsa-miR-4713-5p	PAR-CLIP	22012620
MIRT529783	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT529796	hsa-miR-4318	PAR-CLIP	22012620
MIRT529795	hsa-miR-892a	PAR-CLIP	22012620
MIRT529794	hsa-miR-4715-5p	PAR-CLIP	22012620
MIRT529793	hsa-miR-4259	PAR-CLIP	22012620
MIRT529792	hsa-miR-2116-3p	PAR-CLIP	22012620
MIRT529791	hsa-miR-5008-3p	PAR-CLIP	22012620
MIRT529790	hsa-miR-6737-3p	PAR-CLIP	22012620
MIRT529789	hsa-miR-7157-3p	PAR-CLIP	22012620
MIRT529788	hsa-miR-3650	PAR-CLIP	22012620
MIRT529787	hsa-miR-4703-3p	PAR-CLIP	22012620
MIRT529786	hsa-miR-4711-3p	PAR-CLIP	22012620
MIRT529785	hsa-miR-4693-5p	PAR-CLIP	22012620
MIRT529784	hsa-miR-4713-5p	PAR-CLIP	22012620
MIRT529783	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT788517	hsa-miR-106a	CLIP-seq
MIRT788518	hsa-miR-106b	CLIP-seq
MIRT788519	hsa-miR-1273c	CLIP-seq
MIRT788520	hsa-miR-1273f	CLIP-seq
MIRT788521	hsa-miR-143	CLIP-seq
MIRT788522	hsa-miR-17	CLIP-seq
MIRT788523	hsa-miR-190	CLIP-seq
MIRT788524	hsa-miR-190b	CLIP-seq
MIRT788525	hsa-miR-20a	CLIP-seq
MIRT788526	hsa-miR-20b	CLIP-seq
MIRT788527	hsa-miR-3171	CLIP-seq
MIRT788528	hsa-miR-3609	CLIP-seq
MIRT788529	hsa-miR-3683	CLIP-seq
MIRT788530	hsa-miR-3907	CLIP-seq
MIRT788531	hsa-miR-421	CLIP-seq
MIRT788532	hsa-miR-4307	CLIP-seq
MIRT788533	hsa-miR-4708-5p	CLIP-seq
MIRT788534	hsa-miR-4709-5p	CLIP-seq
MIRT788535	hsa-miR-4770	CLIP-seq
MIRT788536	hsa-miR-4796-3p	CLIP-seq
MIRT788537	hsa-miR-519d	CLIP-seq
MIRT788538	hsa-miR-548a-3p	CLIP-seq
MIRT788539	hsa-miR-548ah	CLIP-seq
MIRT788540	hsa-miR-548e	CLIP-seq
MIRT788541	hsa-miR-548f	CLIP-seq
MIRT788542	hsa-miR-630	CLIP-seq
MIRT788543	hsa-miR-93	CLIP-seq
MIRT788517	hsa-miR-106a	CLIP-seq
MIRT788518	hsa-miR-106b	CLIP-seq
MIRT788544	hsa-miR-1207-5p	CLIP-seq
MIRT788522	hsa-miR-17	CLIP-seq
MIRT788545	hsa-miR-193a-3p	CLIP-seq
MIRT788546	hsa-miR-193b	CLIP-seq
MIRT788525	hsa-miR-20a	CLIP-seq
MIRT788526	hsa-miR-20b	CLIP-seq
MIRT788547	hsa-miR-2467-3p	CLIP-seq
MIRT788548	hsa-miR-302a	CLIP-seq
MIRT788549	hsa-miR-302b	CLIP-seq
MIRT788550	hsa-miR-302c	CLIP-seq
MIRT788551	hsa-miR-302d	CLIP-seq
MIRT788552	hsa-miR-302e	CLIP-seq
MIRT788553	hsa-miR-3150b-3p	CLIP-seq
MIRT788554	hsa-miR-3157-5p	CLIP-seq
MIRT788555	hsa-miR-3170	CLIP-seq
MIRT788556	hsa-miR-3188	CLIP-seq
MIRT788557	hsa-miR-3192	CLIP-seq
MIRT788558	hsa-miR-342-5p	CLIP-seq
MIRT788559	hsa-miR-3678-3p	CLIP-seq
MIRT788560	hsa-miR-372	CLIP-seq
MIRT788561	hsa-miR-373	CLIP-seq
MIRT788562	hsa-miR-3977	CLIP-seq
MIRT788563	hsa-miR-4290	CLIP-seq
MIRT788564	hsa-miR-4314	CLIP-seq
MIRT788565	hsa-miR-4327	CLIP-seq
MIRT788566	hsa-miR-4646-5p	CLIP-seq
MIRT788567	hsa-miR-4651	CLIP-seq
MIRT788568	hsa-miR-4664-5p	CLIP-seq
MIRT788569	hsa-miR-4687-5p	CLIP-seq
MIRT788570	hsa-miR-4690-3p	CLIP-seq
MIRT788571	hsa-miR-4731-5p	CLIP-seq
MIRT788572	hsa-miR-4736	CLIP-seq
MIRT788573	hsa-miR-4763-3p	CLIP-seq
MIRT788574	hsa-miR-4784	CLIP-seq
MIRT788575	hsa-miR-493	CLIP-seq
MIRT788576	hsa-miR-512-3p	CLIP-seq
MIRT788537	hsa-miR-519d	CLIP-seq
MIRT788577	hsa-miR-520a-3p	CLIP-seq
MIRT788578	hsa-miR-520b	CLIP-seq
MIRT788579	hsa-miR-520c-3p	CLIP-seq
MIRT788580	hsa-miR-520d-3p	CLIP-seq
MIRT788581	hsa-miR-520e	CLIP-seq
MIRT788582	hsa-miR-520g	CLIP-seq
MIRT788583	hsa-miR-520h	CLIP-seq
MIRT788584	hsa-miR-608	CLIP-seq
MIRT788585	hsa-miR-635	CLIP-seq
MIRT788586	hsa-miR-657	CLIP-seq
MIRT788587	hsa-miR-765	CLIP-seq
MIRT788588	hsa-miR-892b	CLIP-seq
MIRT788543	hsa-miR-93	CLIP-seq
MIRT1932567	hsa-miR-2054	CLIP-seq
MIRT1932568	hsa-miR-3180-5p	CLIP-seq
MIRT1932569	hsa-miR-3190	CLIP-seq
MIRT1932570	hsa-miR-3914	CLIP-seq
MIRT1932571	hsa-miR-520a-5p	CLIP-seq
MIRT1932572	hsa-miR-525-5p	CLIP-seq
MIRT1932573	hsa-miR-651	CLIP-seq
MIRT788517	hsa-miR-106a	CLIP-seq
MIRT788518	hsa-miR-106b	CLIP-seq
MIRT788519	hsa-miR-1273c	CLIP-seq
MIRT788520	hsa-miR-1273f	CLIP-seq
MIRT788521	hsa-miR-143	CLIP-seq
MIRT788522	hsa-miR-17	CLIP-seq
MIRT788523	hsa-miR-190	CLIP-seq
MIRT788524	hsa-miR-190b	CLIP-seq
MIRT788525	hsa-miR-20a	CLIP-seq
MIRT788526	hsa-miR-20b	CLIP-seq
MIRT2172874	hsa-miR-3143	CLIP-seq
MIRT788527	hsa-miR-3171	CLIP-seq
MIRT1932568	hsa-miR-3180-5p	CLIP-seq
MIRT2172875	hsa-miR-3182	CLIP-seq
MIRT788528	hsa-miR-3609	CLIP-seq
MIRT788529	hsa-miR-3683	CLIP-seq
MIRT788530	hsa-miR-3907	CLIP-seq
MIRT788531	hsa-miR-421	CLIP-seq
MIRT788532	hsa-miR-4307	CLIP-seq
MIRT788564	hsa-miR-4314	CLIP-seq
MIRT2172876	hsa-miR-4659a-3p	CLIP-seq
MIRT2172877	hsa-miR-4659b-3p	CLIP-seq
MIRT788533	hsa-miR-4708-5p	CLIP-seq
MIRT788534	hsa-miR-4709-5p	CLIP-seq
MIRT788535	hsa-miR-4770	CLIP-seq
MIRT788536	hsa-miR-4796-3p	CLIP-seq
MIRT788537	hsa-miR-519d	CLIP-seq
MIRT1932571	hsa-miR-520a-5p	CLIP-seq
MIRT1932572	hsa-miR-525-5p	CLIP-seq
MIRT788539	hsa-miR-548ah	CLIP-seq
MIRT788542	hsa-miR-630	CLIP-seq
MIRT788543	hsa-miR-93	CLIP-seq
MIRT2172878	hsa-miR-1910	CLIP-seq
MIRT2172879	hsa-miR-4264	CLIP-seq
MIRT2172880	hsa-miR-455-3p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	NAS	10436028
GO:0006605	Process	Protein targeting	IC	10066790
GO:0008104	Process	Intracellular protein localization	IC	10066790
GO:0012505	Component	Endomembrane system	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	NAS	10436028
GO:0030124	Component	AP-4 adaptor complex	IDA	10066790
GO:0030124	Component	AP-4 adaptor complex	NAS	10436028
GO:0031904	Component	Endosome lumen	TAS
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA

MIM	HGNC	e!Ensembl
607243	575	ENSG00000100478

Q9Y587

Protein name

AP-4 complex subunit sigma-1 (AP-4 adaptor complex subunit sigma-1) (Adaptor-related protein complex 4 subunit sigma-1) (Sigma-1 subunit of AP-4) (Sigma-4-adaptin) (Sigma4-adaptin)

Protein function

Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01217	Clat_adaptor_s	1 → 142	Clathrin adaptor complex small chain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MIKFFLMVNKQGQTRLSKYYEHVDINKRTLLETEVIKSCLSRSNEQCSFIEYKDFKLIYR
QYAALFIVVGVNDTENEMAIYEFIHNFVEVLDEYFSRVSELDIMFNLDKVHIILDEMVLN
GCIVETNRARILAPLLILDKMSES

Sequence length

144

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Lysosome Vesicle Biogenesis

124

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AP4S1-related disorder	Likely pathogenic; Pathogenic	rs200440467	RCV001249232
APS41-related disorder	Pathogenic	rs876661295	RCV001249231
Hereditary spastic paraplegia 52	Likely pathogenic; Pathogenic	rs758748011, rs2139098086, rs185246578, rs200440467, rs876661295, rs886041127, rs2502522773, rs387906970, rs377679827, rs754944359	RCV004720321 RCV002248969 RCV001089600 RCV000223666 RCV000223669 RCV005415562 RCV003330375 RCV000023635 RCV000477933 RCV004765336
Intellectual disability	Likely pathogenic; Pathogenic	rs200440467, rs876661295	RCV001260893 RCV001260894
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs200033849, rs876661295	RCV001374916 RCV001374915
Spastic paraplegia	Likely pathogenic; Pathogenic	rs200033849, rs2139569112, rs758748011, rs2139067696, rs1566532837, rs2139067616, rs777974629, rs185246578, rs200440467, rs876661295, rs886041127, rs2502388612, rs387906970, rs755820725, rs1335804396, rs568176223, rs754944359 View all (2 more)	RCV002550200 RCV001849801 RCV001849802 RCV001849803 RCV001928707 RCV001976827 RCV003066485 RCV001383006 RCV000525844 RCV002516210 RCV001849356 RCV003588411 RCV003751659 RCV001849280 RCV002532827 RCV001849416 RCV001849417 RCV000699777
Spastic Paraplegia 52	Likely pathogenic; Pathogenic	rs185246578	RCV004798802

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hereditary spastic paraplegia	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs1315033150, rs1226099981, rs528491755, rs200969079, rs766477779, rs147135554	RCV001848249 RCV001848260 RCV001848263 RCV001847666 RCV001847854 RCV001848868
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs200969079	RCV005887939

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bovine Respiratory Disease Complex	Associate	31915823
Cerebral Palsy	Associate	21620353
Developmental Disabilities	Associate	25552650
Epilepsy	Associate	32979048
Fever	Associate	25552650
Foot Deformities	Associate	32979048
Growth Disorders	Associate	21620353
Intellectual Disability	Associate	21620353
Language Development Disorders	Associate	32979048
Paraplegia	Associate	21620353, 25552650
Protein Deficiency	Inhibit	21620353, 31915823
Protein Deficiency	Associate	21620353, 24781758, 25552650
Quadriplegia	Associate	32979048
Seizures	Associate	25552650
Spastic Paraplegia Hereditary	Associate	31525725, 31915823, 32979048, 34087981, 37482941, 40428364

AP4S1 (adaptor related protein complex 4 subunit sigma 1)