IFT57

Protein-coding gene in the species Homo sapiens
IFT57
Identifiers
AliasesIFT57, ESRRBL1, HIPPI, MHS4R2, intraflagellar transport 57, OFD18
External IDsOMIM: 606621; MGI: 1921166; HomoloGene: 32383; GeneCards: IFT57; OMA:IFT57 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for IFT57
Genomic location for IFT57
Band3q13.12-q13.13Start108,160,812 bp[1]
End108,222,435 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for IFT57
Genomic location for IFT57
Band16|16 B5Start49,519,596 bp[2]
End49,585,489 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • bronchial epithelial cell

  • sperm

  • caput epididymis

  • left testis

  • mucosa of paranasal sinus

  • right testis

  • olfactory zone of nasal mucosa

  • epithelium of nasopharynx

  • corpus epididymis

  • right uterine tube
Top expressed in
  • Epithelium of choroid plexus

  • fossa

  • islet of Langerhans

  • seminiferous tubule

  • condyle

  • ciliary body

  • barrel cortex

  • vestibular sensory epithelium

  • lateral geniculate nucleus

  • medial geniculate nucleus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • DNA binding
  • protein binding
Cellular component
  • intraciliary transport particle B
  • cytoplasm
  • ciliary basal body
  • centrosome
  • Golgi apparatus
  • cell projection
  • photoreceptor connecting cilium
  • dendrite terminus
  • ciliary tip
  • axoneme
  • cytoskeleton
  • cilium
Biological process
  • regulation of apoptotic process
  • regulation of transcription, DNA-templated
  • intraciliary transport
  • transcription, DNA-templated
  • heart looping
  • neural tube closure
  • negative regulation of epithelial cell proliferation
  • smoothened signaling pathway
  • left/right pattern formation
  • activation of cysteine-type endopeptidase activity involved in apoptotic process
  • apoptotic process
  • intraciliary transport involved in cilium assembly
  • motile cilium assembly
  • non-motile cilium assembly
  • cilium assembly
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

55081

73916

Ensembl

ENSG00000114446

ENSMUSG00000032965

UniProt

Q9NWB7

Q8BXG3

RefSeq (mRNA)

NM_018010

NM_028680

RefSeq (protein)

NP_060480

NP_082956

Location (UCSC)Chr 3: 108.16 – 108.22 MbChr 16: 49.52 – 49.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Intraflagellar transport protein 57 homolog is a protein that in humans is encoded by the IFT57 gene.[5]

Interactions

IFT57 has been shown to interact with Caspase 8.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000114446 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032965 – 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. ^ "Entrez Gene: IFT57 intraflagellar transport 57 homolog (Chlamydomonas)".
  6. ^ Gervais FG, Singaraja R, Xanthoudakis S, Gutekunst CA, Leavitt BR, Metzler M, Hackam AS, Tam J, Vaillancourt JP, Houtzager V, Rasper DM, Roy S, Hayden MR, Nicholson DW (Feb 2002). "Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi". Nat. Cell Biol. 4 (2): 95–105. doi:10.1038/ncb735. PMID 11788820. S2CID 10439592.

Further reading

  • Gervais FG, Singaraja R, Xanthoudakis S, Gutekunst CA, Leavitt BR, Metzler M, Hackam AS, Tam J, Vaillancourt JP, Houtzager V, Rasper DM, Roy S, Hayden MR, Nicholson DW (2002). "Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi". Nat. Cell Biol. 4 (2): 95–105. doi:10.1038/ncb735. PMID 11788820. S2CID 10439592.
  • Mattson MP (2002). "Accomplices to neuronal death". Nature. 415 (6870): 377–9. doi:10.1038/415377a. PMID 11807533. S2CID 39428123.
  • Cheng CM, Huang SP, Chang YF, Chung WY, Yuo CY (2003). "The viral death protein Apoptin interacts with Hippi, the protein interactor of Huntingtin-interacting protein 1". Biochem. Biophys. Res. Commun. 305 (2): 359–64. doi:10.1016/S0006-291X(03)00764-2. PMID 12745083.
  • Baker SA, Freeman K, Luby-Phelps K, Pazour GJ, Besharse JC (2003). "IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia". J. Biol. Chem. 278 (36): 34211–8. doi:10.1074/jbc.M300156200. PMID 12821668.
  • Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR (2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome". Nat. Genet. 36 (9): 989–93. doi:10.1038/ng1414. PMID 15314642.
  • Majumder P, Chattopadhyay B, Mazumder A, Das P, Bhattacharyya NP (2006). "Induction of apoptosis in cells expressing exogenous Hippi, a molecular partner of huntingtin-interacting protein Hip1". Neurobiol. Dis. 22 (2): 242–56. doi:10.1016/j.nbd.2005.11.003. PMID 16364650. S2CID 23232258.
  • Banerjee M, Majumder P, Bhattacharyya NP, Dattagupta JK, Sen U (2006). "Cloning, expression, purification, crystallization and preliminary crystallographic analysis of pseudo death-effector domain of HIPPI, a molecular partner of Huntingtin-interacting protein HIP-1". Acta Crystallographica Section F. 62 (Pt 12): 1247–50. doi:10.1107/S1744309106046628. PMC 2225382. PMID 17142908.
  • Majumder P, Chattopadhyay B, Sukanya S, Ray T, Banerjee M, Mukhopadhyay D, Bhattacharyya NP (2007). "Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo". Biochem. Biophys. Res. Commun. 353 (1): 80–5. doi:10.1016/j.bbrc.2006.11.138. PMID 17173859.


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