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AP4M1 adaptor related protein complex 4 subunit mu 1 [ Homo sapiens (human) ]

Gene ID: 9179, updated on 29-Dec-2018

Summary

Official Symbol
AP4M1provided by HGNC
Official Full Name
adaptor related protein complex 4 subunit mu 1provided by HGNC
Primary source
HGNC:HGNC:574
See related
Ensembl:ENSG00000221838 MIM:602296
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MU-4; CPSQ3; SPG50; MU-ARP2
Summary
This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 12.8), endometrium (RPKM 6.9) and 25 other tissues See more
Orthologs

Genomic context

See AP4M1 in Genome Data Viewer
Location:
7q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (100101413..100107180)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99699130..99704803)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene microRNA 106b Neighboring gene minichromosome maintenance complex component 7 Neighboring gene microRNA 93 Neighboring gene TATA-box binding protein associated factor 6 Neighboring gene canopy FGF signaling regulator 4 Neighboring gene metallo-beta-lactamase domain containing 1

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

Pathways from BioSystems

  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Golgi to endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Golgi to lysosome transport IDA
Inferred from Direct Assay
more info
PubMed 
intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
protein targeting IDA
Inferred from Direct Assay
more info
PubMed 
protein targeting to lysosome IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
AP-4 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
clathrin adaptor complex IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
early endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
AP-4 complex subunit mu-1
Names
AP-4 adaptor complex mu subunit
adapter-related protein complex 4 mu-1 subunit
adapter-related protein complex 4 subunit mu-1
adaptor related protein complex 4 mu 1 subunit
adaptor-related protein complex AP-4 mu4 subunit
mu subunit of AP-4
mu-adaptin-related protein-2
mu4
mu4-adaptin

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.

Genomic

  1. NG_016312.1 RefSeqGene

    Range
    5001..10674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363671.1NP_001350600.1  AP-4 complex subunit mu-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC073842
    Consensus CDS
    CCDS87527.1
    Conserved Domains (2) summary
    cl02092
    Location:64137
    Clat_adaptor_s; Clathrin adaptor complex small chain
    cd09253
    Location:182460
    AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
  2. NM_004722.3NP_004713.2  AP-4 complex subunit mu-1 isoform 1

    See identical proteins and their annotated locations for NP_004713.2

    Status: REVIEWED

    Source sequence(s)
    AF020796, BC012023, DC413622, Y08387
    Consensus CDS
    CCDS5685.1
    UniProtKB/Swiss-Prot
    O00189
    Related
    ENSP00000352603.4, ENST00000359593.8
    Conserved Domains (2) summary
    cl02092
    Location:1130
    Clat_adaptor_s; Clathrin adaptor complex small chain
    cd09253
    Location:175453
    AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4

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.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    100101413..100107180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250689.4XP_005250746.1  AP-4 complex subunit mu-1 isoform X1

    See identical proteins and their annotated locations for XP_005250746.1

    UniProtKB/TrEMBL
    C9JC87
    Conserved Domains (2) summary
    cl02092
    Location:64137
    Clat_adaptor_s; Clathrin adaptor complex small chain
    cd09253
    Location:182460
    AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
  2. XM_005250690.4XP_005250747.1  AP-4 complex subunit mu-1 isoform X4

    See identical proteins and their annotated locations for XP_005250747.1

    Related
    ENSP00000401613.1, ENST00000438383.5
    Conserved Domains (1) summary
    cd09253
    Location:107385
    AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
  3. XM_017012791.2XP_016868280.1  AP-4 complex subunit mu-1 isoform X6

    Conserved Domains (1) summary
    cl10970
    Location:1228
    AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)
  4. XM_011516685.2XP_011514987.1  AP-4 complex subunit mu-1 isoform X1

    UniProtKB/TrEMBL
    C9JC87
    Related
    ENSP00000403663.1, ENST00000429084.5
    Conserved Domains (2) summary
    cl02092
    Location:64137
    Clat_adaptor_s; Clathrin adaptor complex small chain
    cd09253
    Location:182460
    AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
  5. XM_006716175.4XP_006716238.1  AP-4 complex subunit mu-1 isoform X2

    Conserved Domains (2) summary
    cl02092
    Location:64137
    Clat_adaptor_s; Clathrin adaptor complex small chain
    cl10970
    Location:182419
    AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)
  6. XM_024446995.1XP_024302763.1  AP-4 complex subunit mu-1 isoform X3

    Conserved Domains (2) summary
    cl02092
    Location:1130
    Clat_adaptor_s; Clathrin adaptor complex small chain
    cl10970
    Location:175412
    AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)
  7. XM_017012790.2XP_016868279.1  AP-4 complex subunit mu-1 isoform X5

    Related
    ENSP00000406676.1, ENST00000422582.5
  8. XM_024446996.1XP_024302764.1  AP-4 complex subunit mu-1 isoform X6

    Conserved Domains (1) summary
    cl10970
    Location:1228
    AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)
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