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AP4B1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
AP4B1
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

2MJ7

Identifiers
AliasesAP4B1, BETA-4, CPSQ5, SPG47, adaptor related protein complex 4 beta 1 subunit, adaptor related protein complex 4 subunit beta 1
External IDsOMIM:607245;MGI:1337130;HomoloGene:38203;GeneCards:AP4B1;OMA:AP4B1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for AP4B1
Genomic location for AP4B1
Band1p13.2Start113,894,194bp[1]
End113,905,201bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for AP4B1
Genomic location for AP4B1
Band3|3 F2.2Start103,716,836bp[2]
End103,729,341bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • granulocyte

  • cerebellar hemisphere

  • right hemisphere of cerebellum

  • thymus

  • rectum

  • spleen

  • body of pancreas

  • mucosa of ileum

  • right uterine tube

  • pancreatic epithelial cell
Top expressed in
  • spermatocyte

  • spermatid

  • bone marrow

  • granulocyte

  • testicle

  • proximal tubule

  • ganglionic eminence

  • liver

  • right kidney

  • quadriceps femoris muscle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10717

67489

Ensembl

ENSG00000134262

ENSMUSG00000032952

UniProt

Q9Y6B7

Q9WV76

RefSeq (mRNA)

NM_001253852
NM_001253853
NM_001308312
NM_006594

NM_001163552
NM_001163553
NM_026193

RefSeq (protein)

NP_001240781
NP_001240782
NP_001295241
NP_006585

NP_001157024
NP_001157025
NP_080469

Location (UCSC)Chr 1: 113.89 – 113.91 MbChr 3: 103.72 – 103.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AP-4 complex subunit beta-1 is aprotein that in humans is encoded by theAP4B1gene.[5][6]

Function

[edit]

The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1, this protein) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1)[6]

Interactions

[edit]

AP4B1 has been shown tointeract withAP4M1.[7]

Clinical relevance

[edit]

AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[8][9]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000134262Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000032952Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Dell'Angelica EC, Mullins C, Bonifacino JS (Apr 1999)."AP-4, a novel protein complex related to clathrin adaptors".J Biol Chem.274 (11):7278–85.doi:10.1074/jbc.274.11.7278.PMID 10066790.
  6. ^ab"Entrez Gene: AP4B1 adaptor-related protein complex 4, beta 1 subunit".
  7. ^Hirst J, Bright NA, Rous B, Robinson MS (August 1999)."Characterization of a fourth adaptor-related protein complex".Mol. Biol. Cell.10 (8):2787–802.doi:10.1091/mbc.10.8.2787.PMC 25515.PMID 10436028.
  8. ^Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L (June 2011)."Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature".Am. J. Hum. Genet.88 (6):788–95.doi:10.1016/j.ajhg.2011.04.019.PMC 3113253.PMID 21620353.
  9. ^"Cerebral Palsy Linked to Genetic Abnormalities". medscape.

External links

[edit]
  • HumanAP4B1 genome location andAP4B1 gene details page in theUCSC Genome Browser.
  • PDBe-KB provides an overview of all the structure information available in the PDB for Human AP-4 complex subunit beta-1

Further reading

[edit]
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