Aliases for AP5M1 Gene

Aliases for AP5M1 Gene

  • Adaptor Related Protein Complex 5 Subunit Mu 1 2 3 5
  • Adaptor Related Protein Complex 5 Mu 1 Subunit 2 3
  • 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
  • AP-5 Complex Subunit Mu-1 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
  • Adaptor-Related Protein Complex 5 Subunit Mu-1 4
  • 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 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 Subunit Mu 1) is a Protein Coding gene. Diseases associated with AP5M1 include Nasopharyngeal Carcinoma and Buruli Ulcer.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for AP5M1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP5M1 Gene

Genomics for AP5M1 Gene

GeneHancer (GH) Regulatory Elements for AP5M1 Gene

Promoters and enhancers for AP5M1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J057264 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 506.9 -0.9 -914 6.9 EP300 ZBTB40 ZNF217 SIN3A NRF1 POLR2G GTF2E2 PHF8 ZFX CTCF AP5M1 EXOC5 HSALNG0101564 NAA30 lnc-CCDC198-3
GH14J057382 Enhancer 0.8 Ensembl ENCODE 16.1 +113.5 113513 3.6 FOS TCF7 USF1 FOSL1 JUND ZNF146 ZNF3 USF2 GATA2 JUN AP5M1 EXOC5 NAA30 lnc-EXOC5-2
GH14J057290 Enhancer 0.6 UCNEbase ENCODE 11.7 +21.8 21792 1.1 EZH2 AP5M1 EXOC5 piR-58541 piR-61614-048
GH14J057292 Enhancer 1.1 UCNEbase Ensembl ENCODE 5.9 +23.4 23413 1 TCF7 CREM ZNF3 KDM1A NFIL3 HLF CEBPB PKNOX1 EP300 SOX13 AP5M1 piR-58541 piR-61614-048
GH14J057361 Enhancer 0.7 Ensembl ENCODE 6.6 +94.4 94413 5 NR2F2 MAFF FOS GATA2 JUN MAFK POLR2A NAA30 AP5M1 lnc-EXOC5-2 ENSG00000259008
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP5M1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP5M1

Genomic Locations for AP5M1 Gene

Genomic Locations for AP5M1 Gene
chr14:57,268,888-57,298,742
(GRCh38/hg38)
Size:
29,855 bases
Orientation:
Plus strand
chr14:57,735,606-57,756,797
(GRCh37/hg19)
Size:
21,192 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.
    Miscellaneous:
    • [Isoform 2]: May be due to an intron retention.
    SequenceCaution:
    • Sequence=BAD18791.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD18791.1; Type=Frameshift; 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

Gene Families for AP5M1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AP5M1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AP5M1 Gene

GenScript: Design optimal peptide antigens:
  • Putative HIV-1 infection-related protein (MUDEN_HUMAN)

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP5M1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
endosome 5
cytosol 5
lysosome 5
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for AP5M1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AP5M1 Gene

Pathways & Interactions for AP5M1 Gene

PathCards logo

SuperPathways for AP5M1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AP5M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport IBA,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

mRNA/cDNA for AP5M1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP5M1

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

Expression for AP5M1 Gene

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



Protein tissue co-expression partners for AP5M1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AP5M1 31 30
  • 91.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AP5M1 31 30
  • 90.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ap5m1 17 31 30
  • 86.3 (n)
rat
(Rattus norvegicus)
Mammalia Ap5m1 30
  • 85.14 (n)
oppossum
(Monodelphis domestica)
Mammalia AP5M1 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP5M1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MUDENG 30
  • 67.32 (n)
AP5M1 31
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP5M1 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap5m1 30
  • 64.74 (n)
Str.20418 30
zebrafish
(Danio rerio)
Actinopterygii ap5m1 31 30
  • 57.43 (n)
OneToOne
Dr.13330 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for AP5M1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP5M1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs10137359 - p.Gly226Arg
rs10140245 - p.Glu379Asp

Additional dbSNP identifiers (rs#s) for AP5M1 Gene

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)

Additional Variant Information for AP5M1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AP5M1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AP5M1 Gene - From: LncRNADisease and DISEASES

Disorder Aliases PubMed IDs
nasopharyngeal carcinoma
  • npc
buruli ulcer
  • buruli ulcer, susceptibility to
spastic paraplegia 48, autosomal recessive
  • spg48
- elite association - COSMIC cancer census association via MalaCards
Search AP5M1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AP5M1

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

No data available for 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 MR … Kim TH (Biochemical and biophysical research communications 2008) 2 3 4 54
  2. The fifth adaptor protein complex. (PMID: 22022230) Hirst J … Robinson MS (PLoS biology 2011) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Toward 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 research 2001) 3 4 54

Products for AP5M1 Gene

Sources for AP5M1 Gene