Format

Send to:

Choose Destination

AP4S1 adaptor related protein complex 4 subunit sigma 1 [ Homo sapiens (human) ]

Gene ID: 11154, updated on 17-Jun-2019

Summary

Official Symbol
AP4S1provided by HGNC
Official Full Name
adaptor related protein complex 4 subunit sigma 1provided by HGNC
Primary source
HGNC:HGNC:575
See related
Ensembl:ENSG00000100478 MIM:607243
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AP47B; CLA20; CPSQ6; SPG52; CLAPS4
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]
Expression
Ubiquitous expression in brain (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues See more
Orthologs

Genomic context

See AP4S1 in Genome Data Viewer
Location:
14q12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (31025106..31096450)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (31494312..31565656)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene striatin 3 Neighboring gene intraflagellar transport 20 homolog (Chlamydomonas) pseudogene Neighboring gene microRNA 624 Neighboring gene HECT domain E3 ubiquitin protein ligase 1 Neighboring gene ribosomal protein L21 pseudogene 5 Neighboring gene RNA, U6 small nuclear 541, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32366, FLJ41011

Gene Ontology Provided by GOA

Process Evidence Code Pubs
protein localization IC
Inferred by Curator
more info
PubMed 
protein targeting IC
Inferred by Curator
more info
PubMed 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
AP-4 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
endosome lumen TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
AP-4 complex subunit sigma-1
Names
AP-4 adapter complex subunit sigma-1
AP-4 adaptor complex subunit sigma-1
adaptor related protein complex 4 sigma 1 subunit
clathrin-associated/assembly/adaptor protein, sigma 4
sigma-4-adaptin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031913.1 RefSeqGene

    Range
    5544..76345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128126.3NP_001121598.1  AP-4 complex subunit sigma-1 isoform 2

    See identical proteins and their annotated locations for NP_001121598.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region and has an alternate terminal exon, compared to variant 1. Variants 2, 5 and 6 encode the same isoform (2), which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI570549, AK304115, AL121808, R46468
    Consensus CDS
    CCDS45093.1
    UniProtKB/Swiss-Prot
    Q9Y587
    Related
    ENSP00000438170.2, ENST00000542754.6
    Conserved Domains (1) summary
    COG5030
    Location:1143
    APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
  2. NM_001254726.1NP_001241655.1  AP-4 complex subunit sigma-1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AL121808, BC001259, BG702035, BX388185
    Consensus CDS
    CCDS58310.1
    UniProtKB/Swiss-Prot
    Q9Y587
    Related
    ENSP00000450768.1, ENST00000554345.5
    Conserved Domains (1) summary
    cl02092
    Location:1102
    Clat_adaptor_s; Clathrin adaptor complex small chain
  3. NM_001254727.1NP_001241656.1  AP-4 complex subunit sigma-1 isoform 4

    See identical proteins and their annotated locations for NP_001241656.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL121808, BC001259, BG702035, BX247969
    Consensus CDS
    CCDS58309.1
    UniProtKB/Swiss-Prot
    Q9Y587
    Related
    ENSP00000334484.4, ENST00000334725.8
    Conserved Domains (2) summary
    cl02092
    Location:1105
    Clat_adaptor_s; Clathrin adaptor complex small chain
    pfam13900
    Location:128149
    GVQW; Putative domain of unknown function
  4. NM_001254728.1NP_001241657.1  AP-4 complex subunit sigma-1 isoform 2

    See identical proteins and their annotated locations for NP_001241657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, uses an alternate splice site in the 3' coding region and has an alternate terminal exon, compared to variant 1. Variants 2, 5 and 6 encode the same isoform (2), which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI570549, AL121808, BC035622, R46468
    Consensus CDS
    CCDS45093.1
    UniProtKB/Swiss-Prot
    Q9Y587
    Related
    ENSP00000477631.1, ENST00000616371.4
    Conserved Domains (1) summary
    COG5030
    Location:1143
    APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
  5. NM_001254729.1NP_001241658.1  AP-4 complex subunit sigma-1 isoform 2

    See identical proteins and their annotated locations for NP_001241658.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, uses an alternate splice site in the 3' coding region and has an alternate terminal exon, compared to variant 1. Variants 2, 5 and 6 encode the same isoform (2), which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI570549, AK304115, AL049830, AL121808, BF671561, R46468
    Consensus CDS
    CCDS45093.1
    UniProtKB/Swiss-Prot
    Q9Y587
    Related
    ENSP00000482876.1, ENST00000622409.4
    Conserved Domains (1) summary
    COG5030
    Location:1143
    APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
  6. NM_007077.4NP_009008.2  AP-4 complex subunit sigma-1 isoform 1

    See identical proteins and their annotated locations for NP_009008.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL121808, BC001259, BG702035
    Consensus CDS
    CCDS9642.1
    UniProtKB/Swiss-Prot
    Q9Y587
    Related
    ENSP00000216366.4, ENST00000216366.8
    Conserved Domains (1) summary
    cl02092
    Location:1105
    Clat_adaptor_s; Clathrin adaptor complex small chain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    31025106..31096450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536371.3XP_011534673.1  AP-4 complex subunit sigma-1 isoform X1

    See identical proteins and their annotated locations for XP_011534673.1

    UniProtKB/Swiss-Prot
    Q9Y587
    Conserved Domains (1) summary
    cl02092
    Location:1105
    Clat_adaptor_s; Clathrin adaptor complex small chain
  2. XM_011536372.3XP_011534674.1  AP-4 complex subunit sigma-1 isoform X1

    See identical proteins and their annotated locations for XP_011534674.1

    UniProtKB/Swiss-Prot
    Q9Y587
    Conserved Domains (1) summary
    cl02092
    Location:1105
    Clat_adaptor_s; Clathrin adaptor complex small chain
  3. XM_005267293.5XP_005267350.1  AP-4 complex subunit sigma-1 isoform X1

    See identical proteins and their annotated locations for XP_005267350.1

    UniProtKB/Swiss-Prot
    Q9Y587
    Conserved Domains (1) summary
    cl02092
    Location:1105
    Clat_adaptor_s; Clathrin adaptor complex small chain
Support Center