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AP5M1 adaptor related protein complex 5 subunit mu 1 [ Homo sapiens (human) ]

Gene ID: 55745, updated on 10-Dec-2024

Summary

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Official Symbol
AP5M1provided by HGNC
Official Full Name
adaptor related protein complex 5 subunit mu 1provided by HGNC
Primary source
HGNC:HGNC:20192
See related
Ensembl:ENSG00000053770 MIM:614368; AllianceGenome:HGNC:20192
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
Mu5; MuD; MUDENG; C14orf108
Summary
Involved in endosomal transport. Located in several cellular components, including cytosol; late endosome; and lysosome. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in kidney (RPKM 5.4), duodenum (RPKM 5.4) and 25 other tissues See more
Orthologs
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Genomic context

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See AP5M1 in Genome Data Viewer
Location:
14q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (57268971..57298742)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (51475418..51505190)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (57735689..57765460)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903324 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:57526716-57527915 Neighboring gene zinc finger CCHC-type containing 7 pseudogene Neighboring gene exocyst complex component 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5791 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:57735423-57736006 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:57810066-57810610 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:57831098-57831989 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:57849692-57850526 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:57857288-57858283 Neighboring gene N-alpha-acetyltransferase 30, NatC catalytic subunit Neighboring gene uncharacterized LOC105370519 Neighboring gene coiled-coil domain containing 198

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. MUDENG is cleaved by caspase-3 during TRAIL-induced cell death. Shin JN, et al. Biochem Biophys Res Commun, 2013 May 31. PMID 23665015
  2. BAX is an essential key mediator of AP5M1-induced apoptosis in cervical carcinoma cells. Won M, et al. Biochem Biophys Res Commun, 2019 Oct 15. PMID 31427081
  3. A novel protein, MUDENG, induces cell death in cytotoxic T cells. Lee MR, et al. Biochem Biophys Res Commun, 2008 Jun 6. PMID 18395520
  4. The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy? Muthu M, et al. Int J Mol Sci, 2020 Aug 4. PMID 32759789, Free PMC Article
  5. The fifth adaptor protein complex. Hirst J, et al. PLoS Biol, 2011 Oct. PMID 22022230, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy?
    Title: The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy?
  2. The AP5M1 upregulated the level of BAX protein, a key pro-apoptotic B cell lymphoma (BCL)-2 family member regulating mitochondrial apoptotic cell death pathway.
    Title: BAX is an essential key mediator of AP5M1-induced apoptosis in cervical carcinoma cells.
  3. These results suggest that the adaptin domain plays a key role in MUDENG-mediated cell death.
    Title: MUDENG is cleaved by caspase-3 during TRAIL-induced cell death.
  4. The gene encoding the protein MUDENG (Mu-2 related death-inducing gene) was cloned and characterized.
    Title: A novel protein, MUDENG, induces cell death in cytotoxic T cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10813

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 endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in late endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
AP-5 complex subunit mu-1
Names
AP-5 complex subunit mu
MHD domain-containing death-inducing protein
MU-2/AP1M2 domain containing, death-inducing
Mu-2 related death-inducing
adapter-related protein complex 5 mu subunit
adapter-related protein complex 5 subunit mu-1
adaptor related protein complex 5 mu 1 subunit
mu-2-related death-inducing protein
putative HIV-1 infection-related protein

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_018229.4 → NP_060699.3  AP-5 complex subunit mu-1

    See identical proteins and their annotated locations for NP_060699.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AK001675, AL355834, BQ000414, CN352262
    Consensus CDS
    CCDS9729.1
    UniProtKB/Swiss-Prot
    O95354, Q6ZMD7, Q96DX3, Q9H0R1, Q9NVC5
    UniProtKB/TrEMBL
    B4E1V4
    Related
    ENSP00000261558.3, ENST00000261558.8
    Conserved Domains (1) summary
    cd09256
    Location:196 → 482
    AP_MuD_MHD; Mu-homology domain (MHD) of a adaptor protein (AP) encoded by mu-2 related death-inducing gene, MuD (also known as MUDENG)

RNA

  1. NR_026895.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5' most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK001675, AL355834, BQ000414, CN352262, DB204683

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    57268971..57298742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536940.4 → XP_011535242.1  AP-5 complex subunit mu-1 isoform X1

    UniProtKB/TrEMBL
    B4E1V4, E7EQ45
    Related
    ENSP00000390531.2, ENST00000431972.6
    Conserved Domains (1) summary
    cd09256
    Location:210 → 496
    AP_MuD_MHD; Mu-homology domain (MHD) of a adaptor protein (AP) encoded by mu-2 related death-inducing gene, MuD (also known as MUDENG)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    51475418..51505190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376358.1 → XP_054232333.1  AP-5 complex subunit mu-1 isoform X1

    UniProtKB/TrEMBL
    B4E1V4, E7EQ45
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0R1.2 GenPept UniProtKB/Swiss-Prot:Q9H0R1

Gene LinkOut

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Chemical Information
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