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

    Gene ID: 55745, updated on 2-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 5.4), duodenum (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    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)

    Genotypes

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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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