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

Gene ID: 55745, updated on 17-Jun-2019

Summary

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
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
Expression
Ubiquitous expression in kidney (RPKM 5.4), duodenum (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See AP5M1 in Genome Data Viewer
Location:
14q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (57268888..57298742)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (57735606..57756797)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1791 Neighboring gene zinc finger CCHC-type containing 7 pseudogene Neighboring gene exocyst complex component 5 Neighboring gene uncharacterized LOC105370516 Neighboring gene N(alpha)-acetyltransferase 30, NatC catalytic subunit

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10813

Gene Ontology Provided by GOA

Process Evidence Code Pubs
endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AP-type membrane coat adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AP-type membrane coat adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_018229.4NP_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
    Q9H0R1
    UniProtKB/TrEMBL
    A0A024R654
    Related
    ENSP00000261558.3, ENST00000261558.8
    Conserved Domains (1) summary
    cd09256
    Location:196482
    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_026895.1 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, BQ000414, CN352262, DB204683

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    57268888..57298742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536940.3XP_011535242.1  AP-5 complex subunit mu-1 isoform X1

    UniProtKB/TrEMBL
    E7EQ45
    Related
    ENSP00000390531.2, ENST00000431972.6
    Conserved Domains (1) summary
    cd09256
    Location:210496
    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)
  2. XM_006720196.2XP_006720259.1  AP-5 complex subunit mu-1 isoform X2

    Conserved Domains (1) summary
    cd09256
    Location:93379
    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)
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