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Q9NWB7 (IFT57_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Intraflagellar transport protein 57 homolog
Alternative name(s):
Dermal papilla-derived protein 8
Estrogen-related receptor beta-like protein 1
HIP1-interacting protein
MHS4R2
Gene names
Name:IFT57
Synonyms:DERP8, ESRRBL1, HIPPI
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length429 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway By similarity. Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear. Ref.1 Ref.10 Ref.12

Subunit structure

Component of IFT complex B composed of IFT88, IFT57, TRAF3IP1, IFT52, IFT27, HSPB11/IFT25 and IFT20. Interacts with IFT20 and IFT88. Interacts with BLOC1S2 and RYBP. Interacts with HOMER1, possibly leading to prevent pro-apoptotic effects of IFT57 By similarity. Interacts with HIP1. In normal conditions, it poorly interacts with HIP1, HIP1 being strongly associated with HTT. However, in mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57, leading to apoptosis. Interacts with BFAR. Interacts with chicken anemia virus protein apoptin. Ref.1 Ref.8 Ref.9

Subcellular location

Cytoplasmcytoskeletoncilium basal body By similarity. Note: Concentrates within the inner segment of cilia By similarity.

Tissue specificity

Present in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at protein level). Ref.1

Domain

The pseudo DED region (pDED) meadiates the interaction with HIP1.

Sequence similarities

Belongs to the IFT57 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

BLOC1S2Q6QNY13EBI-725672,EBI-465872

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 429429Intraflagellar transport protein 57 homolog
PRO_0000328884

Regions

Region335 – 42692pDED
Coiled coil304 – 36966 Potential

Experimental info

Mutagenesis4091K → D: Impairs the interaction with HIP1. Ref.1
Sequence conflict2931I → V in AAH09690. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Q9NWB7 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: D80200D957AE5AC4

FASTA42949,108
        10         20         30         40         50         60 
MTAALAVVTT SGLEDGVPRS RGEGTGEVVL ERGPGAAYHM FVVMEDLVEK LKLLRYEEEF 

        70         80         90        100        110        120 
LRKSNLKAPS RHYFALPTNP GEQFYMFCTL AAWLINKAGR PFEQPQEYDD PNATISNILS 

       130        140        150        160        170        180 
ELRSFGRTAD FPPSKLKSGY GEHVCYVLDC FAEEALKYIG FTWKRPIYPV EELEEESVAE 

       190        200        210        220        230        240 
DDAELTLNKV DEEFVEEETD NEENFIDLNV LKAQTYHLDM NETAKQEDIL ESTTDAAEWS 

       250        260        270        280        290        300 
LEVERVLPQL KVTIRTDNKD WRIHVDQMHQ HRSGIESALK ETKGFLDKLH NEITRTLEKI 

       310        320        330        340        350        360 
SSREKYINNQ LENLVQEYRA AQAQLSEAKE RYQQGNGGVT ERTRLLSEVM EELEKVKQEM 

       370        380        390        400        410        420 
EEKGSSMTDG APLVKIKQSL TKLKQETVEM DIRIGIVEHT LLQSKLKEKS NMTRNMHATV 


IPEPATGFY 

« Hide

References

« Hide 'large scale' references
[1]"Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi."
Gervais F.G., Singaraja R., Xanthoudakis S., Gutekunst C.-A., Leavitt B.R., Metzler M., Hackam A.S., Tam J., Vaillancourt J.P., Houtzager V., Rasper D.M., Roy S., Hayden M.R., Nicholson D.W.
Nat. Cell Biol. 4:95-105(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH HIP1, MUTAGENESIS OF LYS-409.
[2]"Analysis of the coding capacity of the MHS4 critical region on chromosome 3q13.1."
Pasutto F., Schickel J., Deufel T., Rohe M.
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Testis.
[3]"Molecular cloning of a dermal papilla derived gene."
Ikeda A., Ukai Y., Yamashita M., Yoshimoto M.
Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Embryo.
[5]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung and Uterus.
[8]"The viral death protein Apoptin interacts with Hippi, the protein interactor of Huntingtin-interacting protein 1."
Cheng C.-M., Huang S.-P., Chang Y.-F., Chung W.-Y., Yuo C.-Y.
Biochem. Biophys. Res. Commun. 305:359-364(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CHICKEN ANEMIA VIRUS APOPTIN.
[9]"Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways."
Roth W., Kermer P., Krajewska M., Welsh K., Davis S., Krajewski S., Reed J.C.
Cell Death Differ. 10:1178-1187(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BFAR.
[10]"Homer1c interacts with Hippi and protects striatal neurons from apoptosis."
Sakamoto K., Yoshida S., Ikegami K., Minakami R., Kato A., Udo H., Sugiyama H.
Biochem. Biophys. Res. Commun. 352:1-5(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[11]"Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo."
Majumder P., Chattopadhyay B., Sukanya S., Ray T., Banerjee M., Mukhopadhyay D., Bhattacharyya N.P.
Biochem. Biophys. Res. Commun. 353:80-85(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: DNA-BINDING.
[12]"Interactions of HIPPI, a molecular partner of Huntingtin interacting protein HIP1, with the specific motif present at the putative promoter sequence of the caspase-1, caspase-8 and caspase-10 genes."
Majumder P., Choudhury A., Banerjee M., Lahiri A., Bhattacharyya N.P.
FEBS J. 274:3886-3899(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DNA-BINDING.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF245220 mRNA. Translation: AAK28373.1.
AF139576 mRNA. Translation: AAK13588.1.
AB014762 mRNA. Translation: BAB87803.1.
AK001009 mRNA. Translation: BAA91466.1.
CR457251 mRNA. Translation: CAG33532.1.
CH471052 Genomic DNA. Translation: EAW79730.1.
BC009690 mRNA. Translation: AAH09690.2.
BC011899 mRNA. Translation: AAH11899.1.
RefSeqNP_060480.1. NM_018010.3.
UniGeneHs.412196.

3D structure databases

ProteinModelPortalQ9NWB7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120396. 4 interactions.
IntActQ9NWB7. 7 interactions.
STRING9606.ENSP00000264538.

PTM databases

PhosphoSiteQ9NWB7.

Polymorphism databases

DMDM74734638.

Proteomic databases

PaxDbQ9NWB7.
PRIDEQ9NWB7.

Protocols and materials databases

DNASU55081.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264538; ENSP00000264538; ENSG00000114446.
GeneID55081.
KEGGhsa:55081.
UCSCuc003dwx.4. human.

Organism-specific databases

CTD55081.
GeneCardsGC03M107879.
HGNCHGNC:17367. IFT57.
HPAHPA035514.
HPA035515.
MIM606621. gene.
neXtProtNX_Q9NWB7.
PharmGKBPA27890.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG263230.
HOGENOMHOG000007186.
HOVERGENHBG054573.
InParanoidQ9NWB7.
KOK04638.
OMAFTWKRPT.
OrthoDBEOG75B85X.
PhylomeDBQ9NWB7.
TreeFamTF106156.

Gene expression databases

ArrayExpressQ9NWB7.
BgeeQ9NWB7.
CleanExHS_IFT57.
GenevestigatorQ9NWB7.

Family and domain databases

InterProIPR019530. Intra-flagellar_transport_57.
[Graphical view]
PANTHERPTHR16011. PTHR16011. 1 hit.
PfamPF10498. IFT57. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSIFT57. human.
GeneWikiIFT57.
GenomeRNAi55081.
NextBio58626.
PROQ9NWB7.
SOURCESearch...

Entry information

Entry nameIFT57_HUMAN
AccessionPrimary (citable) accession number: Q9NWB7
Secondary accession number(s): Q96DA9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM