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AP5S1 adaptor related protein complex 5 subunit sigma 1 [ Homo sapiens (human) ]

Gene ID: 55317, updated on 8-Dec-2022

Summary

Official Symbol
AP5S1provided by HGNC
Official Full Name
adaptor related protein complex 5 subunit sigma 1provided by HGNC
Primary source
HGNC:HGNC:15875
See related
Ensembl:ENSG00000125843 MIM:614824; AllianceGenome:HGNC:15875
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C20orf29
Summary
Involved in double-strand break repair via homologous recombination and endosomal transport. Located in several cellular components, including late endosome; lysosome; and nucleoplasm. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 4.9), thyroid (RPKM 3.9) and 25 other tissues See more
Orthologs
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Genomic context

See AP5S1 in Genome Data Viewer
Location:
20p13
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3820547..3828838)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3851488..3859779)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3801194..3809485)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cell division cycle 25B Neighboring gene Sharpr-MPRA regulatory region 3723 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:3791796-3792995 Neighboring gene long intergenic non-protein coding RNA 1730 Neighboring gene NFE2L2 motif-containing MPRA enhancer 155/156 Neighboring gene mitochondrial antiviral signaling protein

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MAVS

Homology

Clone Names

  • FLJ11168

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in vesicle-mediated transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of AP-5 adaptor complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of AP-type membrane coat adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of AP-type membrane coat adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in late endosome NAS
Non-traceable Author Statement
more info
PubMed 
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
AP-5 complex subunit sigma-1
Names
adapter-related protein complex 5 sigma subunit
adaptor related protein complex 5 sigma 1 subunit
adaptor-related protein complex 5 sigma subunit
protein C20orf29
sigma5

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001204446.2NP_001191375.1  AP-5 complex subunit sigma-1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AK002030, AL109804, DA129391, DA253969
    Consensus CDS
    CCDS13070.1
    UniProtKB/Swiss-Prot
    D3DVY7, Q9NUS5
    Related
    ENSP00000246041.2, ENST00000246041.6
    Conserved Domains (1) summary
    pfam15001
    Location:1193
    AP-5_subunit_s1; AP-5 complex subunit sigma-1
  2. NM_001204447.2NP_001191376.1  AP-5 complex subunit sigma-1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AI338486, AK093332, AL109804, DA253969, DB190907
    Consensus CDS
    CCDS13070.1
    UniProtKB/Swiss-Prot
    D3DVY7, Q9NUS5
    Related
    ENSP00000368886.2, ENST00000379567.6
    Conserved Domains (1) summary
    pfam15001
    Location:1193
    AP-5_subunit_s1; AP-5 complex subunit sigma-1
  3. NM_018347.3NP_060817.1  AP-5 complex subunit sigma-1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AK002030, AL109804, BC043344, DA253969
    Consensus CDS
    CCDS13070.1
    UniProtKB/Swiss-Prot
    D3DVY7, Q9NUS5
    Related
    ENSP00000481750.1, ENST00000615891.2
    Conserved Domains (1) summary
    pfam15001
    Location:1193
    AP-5_subunit_s1; AP-5 complex subunit sigma-1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    3820547..3828838
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    3851488..3859779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)