AP4S1 - adaptor related protein complex 4 subunit sigma 1 Gene

Homo sapiens

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

Gene ID: 11154 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.