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Aliases for AP5M1 Gene

Aliases for AP5M1 Gene

  • Adaptor Related Protein Complex 5 Mu 1 Subunit 2 3 5
  • Adaptor-Related Protein Complex 5 Subunit Mu-1 3 4
  • MU-2/AP1M2 Domain Containing, Death-Inducing 2 3
  • Putative HIV-1 Infection-Related Protein 3 4
  • Mu-2-Related Death-Inducing Protein 3 4
  • C14orf108 3 4
  • MUDENG 3 4
  • Mu5 3 4
  • MuD 3 4
  • Adaptor-Related Protein Complex 5, Mu 1 Subunit 2
  • Adapter-Related Protein Complex 5 Subunit Mu-1 3
  • MHD Domain-Containing Death-Inducing Protein 3
  • Adapter-Related Protein Complex 5 Mu Subunit 3
  • Chromosome 14 Open Reading Frame 108 2
  • Mu-2 Related Death-Inducing Gene 2
  • Mu-2 Related Death-Inducing 3
  • AP-5 Complex Subunit Mu-1 3
  • AP-5 Complex Subunit Mu 3

External Ids for AP5M1 Gene

Previous HGNC Symbols for AP5M1 Gene

  • C14orf108
  • MUDENG

Previous GeneCards Identifiers for AP5M1 Gene

  • GC14P057737

Summaries for AP5M1 Gene

GeneCards Summary for AP5M1 Gene

AP5M1 (Adaptor Related Protein Complex 5 Mu 1 Subunit) is a Protein Coding gene.

UniProtKB/Swiss-Prot for AP5M1 Gene

  • As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:18395520, it may play a role in cell death.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP5M1 Gene

Genomics for AP5M1 Gene

Regulatory Elements for AP5M1 Gene

Enhancers for AP5M1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G057290 1.4 ENCODE 11.7 +21.8 21788 1.1 EZH2 FOXA1 EXOC5 AP5M1 PIR52540 GC14P057276 GC14P057307
GH14G057382 0.9 Ensembl ENCODE 9.7 +113.6 113613 0.6 FOSL1 ZNF146 JUND ZNF3 GATA2 JUN BHLHE40 USF2 FOS AP5M1 EXOC5 NAA30 ENSG00000259008
GH14G057264 1.1 ENCODE 6.9 -1.4 -1394 5.9 HDGF HNRNPUL1 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 NAA30 AP5M1 ENSG00000258592
GH14G057383 0.4 Ensembl 15.8 +114.4 114413 0.2 TCF7 AP5M1 EXOC5 NAA30 ENSG00000259008
GH14G057259 0.7 FANTOM5 5.4 -9.6 -9627 0.4 SMARCE1 DPF2 ZEB2 FOSL1 TCF12 ARID1B JUND SMARCA4 NCOR1 FOS AP5M1 ENSG00000258592
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP5M1 on UCSC Golden Path with GeneCards custom track

Promoters for AP5M1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000068985 12 3401 HDGF HNRNPUL1 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for AP5M1 Gene

Chromosome:
14
Start:
57,268,888 bp from pter
End:
57,298,742 bp from pter
Size:
29,855 bases
Orientation:
Plus strand

Genomic View for AP5M1 Gene

Genes around AP5M1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP5M1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP5M1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP5M1 Gene

Proteins for AP5M1 Gene

  • Protein details for AP5M1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0R1-AP5M1_HUMAN
    Recommended name:
    AP-5 complex subunit mu-1
    Protein Accession:
    Q9H0R1
    Secondary Accessions:
    • O95354
    • Q6ZMD7
    • Q96DX3
    • Q9NVC5

    Protein attributes for AP5M1 Gene

    Size:
    490 amino acids
    Molecular mass:
    54767 Da
    Quaternary structure:
    • Probably part of the adaptor protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1.
    SequenceCaution:
    • Sequence=BAD18791.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18791.1; Type=Frameshift; Positions=482; Evidence={ECO:0000305};

    Alternative splice isoforms for AP5M1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP5M1 Gene

Post-translational modifications for AP5M1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AP5M1 Gene

Domains & Families for AP5M1 Gene

Protein Domains for AP5M1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AP5M1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0R1

UniProtKB/Swiss-Prot:

AP5M1_HUMAN :
  • Belongs to the adaptor complexes medium subunit family.
Family:
  • Belongs to the adaptor complexes medium subunit family.
genes like me logo Genes that share domains with AP5M1: view

No data available for Gene Families for AP5M1 Gene

Function for AP5M1 Gene

Molecular function for AP5M1 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:18395520, it may play a role in cell death.

Phenotypes for AP5M1 Gene

genes like me logo Genes that share phenotypes with AP5M1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AP5M1 Gene

Localization for AP5M1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP5M1 Gene

Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=May cycle on and off membranes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP5M1 gene
Compartment Confidence
cytosol 5
lysosome 5
endosome 5
mitochondrion 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AP5M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA,IEA 22022230
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005770 late endosome IDA 22022230
GO:0005829 cytosol IDA,IEA 22022230
genes like me logo Genes that share ontologies with AP5M1: view

Pathways & Interactions for AP5M1 Gene

SuperPathways for AP5M1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AP5M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport IMP 22022230
genes like me logo Genes that share ontologies with AP5M1: view

No data available for Pathways by source and SIGNOR curated interactions for AP5M1 Gene

Drugs & Compounds for AP5M1 Gene

No Compound Related Data Available

Transcripts for AP5M1 Gene

Unigene Clusters for AP5M1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP5M1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - -
SP2:
SP3: - - - -
SP4:
SP5:
SP6: -

Relevant External Links for AP5M1 Gene

GeneLoc Exon Structure for
AP5M1
ECgene alternative splicing isoforms for
AP5M1

Expression for AP5M1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AP5M1 Gene

Protein differential expression in normal tissues from HIPED for AP5M1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.4), Lymph node (19.4), Blymphocyte (16.5), and Spinal cord (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AP5M1 Gene



Protein tissue co-expression partners for AP5M1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AP5M1 Gene:

AP5M1

SOURCE GeneReport for Unigene cluster for AP5M1 Gene:

Hs.597349

mRNA Expression by UniProt/SwissProt for AP5M1 Gene:

Q9H0R1-AP5M1_HUMAN
Tissue specificity: Expressed in various tumor cell lines including Jurkat, Hep-G2 and HeLa.

Evidence on tissue expression from TISSUES for AP5M1 Gene

  • Nervous system(4.9)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with AP5M1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AP5M1 Gene

Orthologs for AP5M1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AP5M1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP5M1 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia AP5M1 34 35
  • 91.02 (n)
cow
(Bos Taurus)
Mammalia AP5M1 34 35
  • 90.48 (n)
mouse
(Mus musculus)
Mammalia Ap5m1 34 16 35
  • 86.3 (n)
rat
(Rattus norvegicus)
Mammalia Ap5m1 34
  • 85.14 (n)
oppossum
(Monodelphis domestica)
Mammalia AP5M1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP5M1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MUDENG 34
  • 67.32 (n)
AP5M1 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP5M1 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap5m1 34
  • 64.74 (n)
Str.20418 34
zebrafish
(Danio rerio)
Actinopterygii ap5m1 34 35
  • 57.43 (n)
Dr.13330 34
Species where no ortholog for AP5M1 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • 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 AP5M1 Gene

ENSEMBL:
Gene Tree for AP5M1 (if available)
TreeFam:
Gene Tree for AP5M1 (if available)

Paralogs for AP5M1 Gene

Pseudogenes.org Pseudogenes for AP5M1 Gene

genes like me logo Genes that share paralogs with AP5M1: view

No data available for Paralogs for AP5M1 Gene

Variants for AP5M1 Gene

Sequence variations from dbSNP and Humsavar for AP5M1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000106258 -- 57,289,666(+) TTTAA(C/T)GTCTG nc-transcript-variant, utr-variant-3-prime
rs1000158968 -- 57,284,186(+) AATGC(A/C)TGAAT intron-variant
rs1000311889 -- 57,277,758(+) AGTAG(G/T)TTTAT intron-variant
rs1000385233 -- 57,291,343(+) ATCAC(A/G)TAGGT utr-variant-3-prime
rs1000441974 -- 57,283,762(+) AGGTG(G/T)ATCGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP5M1 Gene

Variant ID Type Subtype PubMed ID
esv2429208 CNV insertion 19546169
nsv1046422 CNV gain 25217958
nsv832806 CNV loss 17160897

Variation tolerance for AP5M1 Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.04; 75.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP5M1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP5M1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP5M1 Gene

Disorders for AP5M1 Gene

Relevant External Links for AP5M1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP5M1

No disorders were found for AP5M1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AP5M1 Gene

Publications for AP5M1 Gene

  1. A novel protein, MUDENG, induces cell death in cytotoxic T cells. (PMID: 18395520) Lee M.-R. … Kim T.-H. (Biochem. Biophys. Res. Commun. 2008) 2 3 4 64
  2. The fifth adaptor protein complex. (PMID: 22022230) Hirst J. … Robinson M.S. (PLoS Biol. 2011) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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 64
  5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 64

Products for AP5M1 Gene

Sources for AP5M1 Gene

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