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Aliases for AP5S1 Gene

Aliases for AP5S1 Gene

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

External Ids for AP5S1 Gene

Previous HGNC Symbols for AP5S1 Gene

  • C20orf29

Previous GeneCards Identifiers for AP5S1 Gene

  • GC20P003804

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

Regulatory Elements for AP5S1 Gene

Promoters for AP5S1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP5S1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP5S1 Gene

Chromosome:
20
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

Genes around AP5S1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP5S1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP5S1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AP5S1 Gene

No data available for DME Specific Peptides for AP5S1 Gene

Domains & Families for AP5S1 Gene

Protein Domains for AP5S1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AP5S1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

Animal Model Products

miRNA for AP5S1 Gene

miRTarBase miRNAs that target AP5S1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP5S1 Gene COMPARTMENTS Subcellular localization image for AP5S1 gene
Compartment Confidence
endosome 5
lysosome 5
nucleus 5
vacuole 5
cytosol 4
mitochondrion 2
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AP5S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 22022230
GO:0005765 lysosomal membrane IEA --
GO:0005829 cytosol IEA --
GO:0030119 AP-type membrane coat adaptor complex IEA,IDA 22022230
GO:0031902 late endosome membrane IEA --
genes like me logo Genes that share ontologies with AP5S1: view

Pathways & Interactions for AP5S1 Gene

SuperPathways for AP5S1 Gene

No Data Available

Interacting Proteins for AP5S1 Gene

Gene Ontology (GO) - Biological Process for AP5S1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for AP5S1 Gene

Drugs & Compounds for AP5S1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for AP5S1 Gene

This gene is overexpressed in Bone (52.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with AP5S1: view

Protein tissue co-expression partners for AP5S1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AP5S1 Gene

Orthologs for AP5S1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AP5S1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AP5S1 35
  • 83.59 (n)
  • 83.25 (a)
C20ORF29 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP5S1 35
  • 87 (n)
  • 91 (a)
AP5S1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap5s1 35
  • 82.13 (n)
  • 84.78 (a)
Ap5s1 16
Ap5s1 36
  • 57 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP5S1 35
  • 99.5 (n)
  • 100 (a)
AP5S1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap5s1 35
  • 82.61 (n)
  • 84.78 (a)
oppossum
(Monodelphis domestica)
Mammalia AP5S1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP5S1 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap5s1 35
  • 52.55 (n)
  • 47.45 (a)
zebrafish
(Danio rerio)
Actinopterygii ap5s1 35
  • 53.3 (n)
  • 47.92 (a)
ap5s1 36
  • 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
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
rs3892888 -- 3,819,381(+) GGGAG(C/G)GGGCA upstream-variant-2KB
rs3892889 -- 3,820,316(-) TCCCC(A/C/G)GCTCG upstream-variant-2KB

Variation tolerance for AP5S1 Gene

Residual Variation Intolerance Score: 54.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 42.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP5S1 Gene

HapMap Linkage Disequilibrium report
AP5S1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AP5S1 Gene

Disorders for AP5S1 Gene

Relevant External Links for AP5S1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP5S1

No disorders were found for AP5S1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AP5S1 Gene

Publications for AP5S1 Gene

  1. The fifth adaptor protein complex. (PMID: 22022230) Hirst J. … Robinson M.S. (PLoS Biol. 2011) 2 3 4 67
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 2 3
  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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for AP5S1 Gene

Sources for AP5S1 Gene

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