AFTPH

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

  • sperm

  • cardia

  • cerebellar vermis

  • pylorus

  • parotid gland

  • nipple

  • superior surface of tongue

  • thoracic diaphragm

  • trachea
Top expressed in
  • spermatocyte

  • submandibular gland

  • lacrimal gland

  • dorsomedial hypothalamic nucleus

  • habenula

  • olfactory epithelium

  • left colon

  • thymus

  • cerebellar cortex

  • spermatid
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • clathrin binding
Cellular component
  • AP-1 adaptor complex
  • cytosol
  • Golgi apparatus
  • intracellular membrane-bounded organelle
  • nucleus
  • cytoplasm
  • trans-Golgi network membrane
Biological process
  • protein transport
  • intracellular transport
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[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
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.[5][6][7] It forms a stable complex with p200 and synergin gamma.[6][7] It contains a clathrin box with two known clathrin-binding sequence motifs, is involved in vesicle trafficking[8] and is found in many eukaryotes.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119844 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049659 – Ensembl, 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. ^ a b 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. ^ a b 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

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.


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