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AP4S1 - adaptor related protein complex 4 subunit sigma 1 Gene

Also Known as AP47B; CLA20; CPSQ6; SPG52; CLAPS4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11154

About AP4S1

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:31,025,106-31,096,450 (from NCBI)

This gene has 13 transcripts (splice variants), 203 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues.

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 formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]

AP4S1 Products (6)

mRNA	Protein	Name
NM_001128126.3	NP_001121598.1	AP-4 complex subunit sigma-1 isoform 2
NM_001254726.2	NP_001241655.1	AP-4 complex subunit sigma-1 isoform 3
NM_001254727.2	NP_001241656.1	AP-4 complex subunit sigma-1 isoform 4
NM_001254728.2	NP_001241657.1	AP-4 complex subunit sigma-1 isoform 2
NM_001254729.2	NP_001241658.1	AP-4 complex subunit sigma-1 isoform 2
NM_007077.5	NP_009008.2	AP-4 complex subunit sigma-1 isoform 1

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
part of AP-4 adaptor complex	IDA IDA: Inferred from direct assay	10066790	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP4S1 Protein Structure

Clat_adaptor_s

0
100
144 a.a.

Protein Preferred Names	Protein Names
AP-4 complex subunit sigma-1	AP-4 adapter complex subunit sigma-1

Related Diseases

Diseases	Alias
Spastic Paraplegia 52, Autosomal Recessive	SPG52 Hereditary Spastic Paraplegia 52 Cpsq6 Cerebral Palsy, Spastic Quadriplegic, 6, Formerly Cpsq6, Formerly Autosomal Recessive Spastic Paraplegia 52 Spastic Quadriplegic Cerebral Palsy 6 Cerebral Palsy, Spastic Quadriplegic 6
Spastic Paraplegia 51, Autosomal Recessive	SPG51 Spastic Paraplegia 51 Ap4 Deficiency Syndrome Cpsq4 Cerebral Palsy, Spastic Quadriplegic, 4 Severe Intellectual Disability And Progressive Spastic Paraplegia Cerebral Palsy, Spastic Quadriplegic, 4, Formerly Cpsq4, Formerly Autosomal Recessive Spastic Paraplegia 51 Cerebral Palsy, Spastic Quadriplegic 4
Neuropathy, Hereditary Sensory, Type Iic	HSN2C Hereditary Sensory Neuropathy Type 2c Hereditary Sensory Neuropathy Type Iic Neuropathy, Hereditary Sensory, Type 2c Neuropathy, Hereditary Sensory, 2c Hsn Iice Neuropathy, Sensory, Hereditary, Type Iic
Spastic Paraplegia 50, Autosomal Recessive	Hereditary Spastic Paraplegia 50 SPG50 Ap-4 Deficiency Syndrome Ap-4-Associated Hereditary Spastic Paraplegia Adaptor Protein Complex 4 Deficiency Cerebral Palsy, Spastic Quadriplegic, 3, Formerly Cpsq3, Formerly Autosomal Recessive Spastic Paraplegia 50 Cpsq3 Spastic Quadriplegic Cerebral Palsy 3 Ap-4 Deficiency Ap-4-Associated Hsp Paraplegia, Spastic, Autosomal Recessive, Type 50 Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive	Hereditary Spastic Paraplegia 47 SPG47 Cpsq5 Cerebral Palsy, Spastic Quadriplegic, 5, Formerly Cpsq5, Formerly Autosomal Recessive Spastic Paraplegia 47 Spastic Quadriplegic Cerebral Palsy 5 Cerebral Palsy, Spastic Quadriplegic 5
Spastic Paraplegia 53, Autosomal Recessive	SPG53 Hereditary Spastic Paraplegia 53 Autosomal Recessive Spastic Paraplegia Type 53 Autosomal Recessive Spastic Paraplegia 53 Paraplegia, Spastic, Type 53, Autosomal Recessive
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Quadriplegia	Tetraplegia Tetraplegias
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Spastic Ataxia	Spax Ataxia, Spastic
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00799	AP4S1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AP4S1	VGNC	VGNC:104357
Rattus norvegicus	AP4S1	RGD	RGD:1311990
Mus musculus	AP4S1	MGD	MGI:1337065
Macaca mulatta	AP4S1	VGNC	VGNC:84304
Bos taurus	AP4S1	VGNC	VGNC:25994