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AFTPH

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Protein-coding gene in the species Homo sapiens
AFTPH
Identifiers
AliasesAFTPH, Nbla10388, aftiphilin
External IDsMGI: 1923012; HomoloGene: 9764; GeneCards: AFTPH; OMA:AFTPH - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)
Chromosome 2 (human)Genomic location for AFTPHGenomic location for AFTPH
Band2p14Start64,524,305 bp
End64,593,005 bp
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)
Chromosome 11 (mouse)Genomic location for AFTPHGenomic location for AFTPH
Band11|11 A3.1Start20,635,084 bp
End20,691,589 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • renal medulla

  • male germ cell

  • sperm

  • buccal mucosa cell

  • cardia

  • epithelium of nasopharynx

  • cerebellar vermis

  • mucosa of ileum

  • beta cell

  • pylorus
Top expressed in
  • dentate gyrus of hippocampal formation granule cell

  • spermatocyte

  • submandibular gland

  • lacrimal gland

  • dorsomedial hypothalamic nucleus

  • neural layer of retina

  • habenula

  • vestibular sensory epithelium

  • granulocyte

  • olfactory epithelium
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

54812

216549

Ensembl

ENSG00000119844

ENSMUSG00000049659

UniProt

Q6ULP2

Q80WT5

RefSeq (mRNA)

NM_001002243
NM_017657
NM_203437

NM_001252503
NM_001290545
NM_181411

RefSeq (protein)
NP_001002243
NP_060127
NP_982261
NP_001362898
NP_001362899

NP_001362900
NP_001362901
NP_001362902

NP_001239432
NP_001277474
NP_852076

Location (UCSC)Chr 2: 64.52 – 64.59 MbChr 11: 20.64 – 20.69 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse
Protein family
Clathrin-binding box of Aftiphilin
Identifiers
SymbolClathrin_bdg
PfamPF15045
InterProIPR029205
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary

Aftiphilin is a protein that in humans is encoded by the AFTPH gene. It forms a stable complex with p200 and synergin gamma. It contains a clathrin box with two known clathrin-binding sequence motifs, is involved in vesicle trafficking and is found in many eukaryotes.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000119844Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000049659Ensembl, 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. Mattera R, Ritter B, Sidhu SS, McPherson PS, Bonifacino JS (Feb 2004). "Definition of the consensus motif recognized by gamma-adaptin ear domains". J Biol Chem. 279 (9): 8018–28. doi:10.1074/jbc.M311873200. PMID 14665628.
  6. ^ Hirst J, Borner GH, Harbour M, Robinson MS (Apr 2005). "The aftiphilin/p200/gamma-synergin complex". Mol Biol Cell. 16 (5): 2554–65. doi:10.1091/mbc.E04-12-1077. PMC 1087257. PMID 15758025.
  7. ^ Burman JL, Wasiak S, Ritter B, de Heuvel E, McPherson PS (Apr 2005). "Aftiphilin is a component of the clathrin machinery in neurons". FEBS Lett. 579 (10): 2177–84. doi:10.1016/j.febslet.2005.03.008. PMID 15811338. S2CID 23970781.
  8. Lui-Roberts WW, Ferraro F, Nightingale TD, Cutler DF (December 2008). "Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells". Mol. Biol. Cell. 19 (12): 5072–81. doi:10.1091/mbc.E08-03-0301. PMC 2592662. PMID 18815278.

External links

Further reading


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