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Aliases for AP5S1 Gene

Aliases for AP5S1 Gene

  • Adaptor-Related Protein Complex 5, Sigma 1 Subunit 2 3
  • C20orf29 3 4 6
  • Adaptor-Related Protein Complex 5 Sigma Subunit 3 4
  • Sigma5 3 4
  • Adapter-Related Protein Complex 5 Sigma Subunit 3
  • Chromosome 20 Open Reading Frame 29 2
  • AP-5 Complex Subunit Sigma-1 3
  • Protein C20orf29 3

External Ids for AP5S1 Gene

Previous Symbols for AP5S1 Gene

  • C20orf29

Summaries for AP5S1 Gene

GeneCards Summary for AP5S1 Gene

AP5S1 (Adaptor-Related Protein Complex 5, Sigma 1 Subunit) is a Protein Coding gene.

UniProtKB/Swiss-Prot for AP5S1 Gene

  • As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP5S1 Gene

Genomics for AP5S1 Gene

Genomic Location for AP5S1 Gene

Start:
3,820,524 bp from pter
End:
3,828,837 bp from pter
Size:
8,314 bases
Orientation:
Plus strand

Genomic View for AP5S1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP5S1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP5S1 Gene

No data available for Regulatory Elements for AP5S1 Gene

Proteins for AP5S1 Gene

  • Protein details for AP5S1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUS5-AP5S1_HUMAN
    Recommended name:
    AP-5 complex subunit sigma-1
    Protein Accession:
    Q9NUS5
    Secondary Accessions:
    • B3KSD0
    • D3DVY7

    Protein attributes for AP5S1 Gene

    Size:
    200 amino acids
    Molecular mass:
    22522 Da
    Quaternary structure:
    • Probably part of the adaptor protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11.

neXtProt entry for AP5S1 Gene

Proteomics data for AP5S1 Gene at MOPED

Post-translational modifications for AP5S1 Gene

No Post-translational modifications

Other Protein References for AP5S1 Gene

No data available for DME Specific Peptides for AP5S1 Gene

Domains for AP5S1 Gene

Protein Domains for AP5S1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with AP5S1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for AP5S1 Gene

Function for AP5S1 Gene

Molecular function for AP5S1 Gene

UniProtKB/Swiss-Prot Function: As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair.

Gene Ontology (GO) - Molecular Function for AP5S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20613862
genes like me logo Genes that share ontologies with AP5S1: view

Phenotypes for AP5S1 Gene

genes like me logo Genes that share phenotypes with AP5S1: view

miRNA for AP5S1 Gene

miRTarBase miRNAs that target AP5S1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AP5S1 Gene

Localization for AP5S1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP5S1 Gene

Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side.

Gene Ontology (GO) - Cellular Components for AP5S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005764 lysosome IDA 22022230
GO:0005765 lysosomal membrane IEA --
genes like me logo Genes that share ontologies with AP5S1: view

Pathways for AP5S1 Gene

SuperPathways for AP5S1 Gene

No Data Available

Interacting Proteins for AP5S1 Gene

Gene Ontology (GO) - Biological Process for AP5S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 20613862
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport IMP 22022230
genes like me logo Genes that share ontologies with AP5S1: view

No data available for Pathways by source for AP5S1 Gene

Transcripts for AP5S1 Gene

Unigene Clusters for AP5S1 Gene

Adaptor-related protein complex 5, sigma 1 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AP5S1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: -
SP6: -

Relevant External Links for AP5S1 Gene

GeneLoc Exon Structure for
AP5S1
ECgene alternative splicing isoforms for
AP5S1

Expression for AP5S1 Gene

mRNA expression in normal human tissues for AP5S1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP5S1 Gene

SOURCE GeneReport for Unigene cluster for AP5S1 Gene Hs.104806

genes like me logo Genes that share expressions with AP5S1: view

Orthologs for AP5S1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AP5S1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP5S1 36
  • 99.5 (n)
  • 100 (a)
AP5S1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP5S1 36
  • 83.59 (n)
  • 83.25 (a)
C20ORF29 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP5S1 36
  • 87 (n)
  • 91 (a)
AP5S1 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap5s1 36
  • 82.13 (n)
  • 84.78 (a)
Ap5s1 16
Ap5s1 37
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP5S1 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap5s1 36
  • 82.61 (n)
  • 84.78 (a)
lizard
(Anolis carolinensis)
Reptilia AP5S1 37
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap5s1 36
  • 52.55 (n)
  • 47.45 (a)
zebrafish
(Danio rerio)
Actinopterygii ap5s1 36
  • 53.3 (n)
  • 47.92 (a)
ap5s1 37
  • 46 (a)
OneToOne
Species with no ortholog for AP5S1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AP5S1 Gene

ENSEMBL:
Gene Tree for AP5S1 (if available)
TreeFam:
Gene Tree for AP5S1 (if available)

Paralogs for AP5S1 Gene

No data available for Paralogs for AP5S1 Gene

Variants for AP5S1 Gene

Sequence variations from dbSNP and Humsavar for AP5S1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs1141189 -- 3,824,762(+) acccc(A/G)tctct utr-variant-3-prime
rs1141190 -- 3,824,812(+) ctgta(A/G)tccta utr-variant-3-prime
rs1141191 -- 3,824,864(+) GAGGC(A/G)GAGTT utr-variant-3-prime
rs3180309 -- 3,824,981(+) TCTCA(A/G)ACTCC utr-variant-3-prime
rs3810565 -- 3,818,859(+) GTCAC(C/T)TCCTA upstream-variant-2KB

Relevant External Links for AP5S1 Gene

HapMap Linkage Disequilibrium report
AP5S1

No data available for Structural Variations from Database of Genomic Variants (DGV) for AP5S1 Gene

Disorders for AP5S1 Gene

No disorders were found for AP5S1 Gene.

No data available for UniProtKB/Swiss-Prot for AP5S1 Gene

Publications for AP5S1 Gene

  1. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 2 3 4
  2. The fifth adaptor protein complex. (PMID: 22022230) Hirst J. … Robinson M.S. (PLoS Biol. 2011) 2 3 4
  3. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. (PMID: 20613862) Slabicki M. … Buchholz F. (PLoS Biol. 2010) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for AP5S1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate AP5S1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for AP5S1
    • Block miRNA regulation of AP5S1 using miScript Target Protectors

    Sources for AP5S1 Gene

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