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Q9NWB7

- IFT57_HUMAN

UniProt

Q9NWB7 - IFT57_HUMAN

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Protein

Intraflagellar transport protein 57 homolog

Gene

IFT57

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.By similarity3 Publications

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. activation of cysteine-type endopeptidase activity involved in apoptotic process Source: MGI
  2. apoptotic process Source: MGI
  3. cilium assembly Source: RefGenome
  4. heart looping Source: Ensembl
  5. intraciliary transport Source: RefGenome
  6. left/right pattern formation Source: Ensembl
  7. negative regulation of epithelial cell proliferation Source: Ensembl
  8. neural tube closure Source: Ensembl
  9. regulation of apoptotic process Source: MGI
  10. regulation of transcription, DNA-templated Source: UniProtKB-KW
  11. smoothened signaling pathway Source: Ensembl
  12. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Apoptosis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_267634. Hedgehog 'off' state.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:IFT57
Synonyms:DERP8, ESRRBL1, HIPPI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:17367. IFT57.

Subcellular locationi

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

GO - Cellular componenti

  1. centrosome Source: RefGenome
  2. ciliary basal body Source: UniProtKB
  3. cilium Source: RefGenome
  4. dendrite terminus Source: Ensembl
  5. Golgi apparatus Source: RefGenome
  6. intraciliary transport particle B Source: RefGenome
  7. photoreceptor connecting cilium Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi409 – 4091K → D: Impairs the interaction with HIP1. 1 Publication

Organism-specific databases

PharmGKBiPA27890.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 429429Intraflagellar transport protein 57 homologPRO_0000328884Add
BLAST

Proteomic databases

MaxQBiQ9NWB7.
PaxDbiQ9NWB7.
PRIDEiQ9NWB7.

PTM databases

PhosphoSiteiQ9NWB7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9NWB7.
CleanExiHS_IFT57.
ExpressionAtlasiQ9NWB7. baseline and differential.
GenevestigatoriQ9NWB7.

Organism-specific databases

HPAiHPA035514.
HPA035515.

Interactioni

Subunit structurei

Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT20 and IFT88. Interacts with BLOC1S2 and RYBP. Interacts with HOMER1, possibly preventing 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.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BLOC1S2Q6QNY13EBI-725672,EBI-465872
ZDHHC17Q8IUH52EBI-725672,EBI-524753

Protein-protein interaction databases

BioGridi120396. 42 interactions.
IntActiQ9NWB7. 8 interactions.
STRINGi9606.ENSP00000264538.

Structurei

3D structure databases

ProteinModelPortaliQ9NWB7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni335 – 42692pDEDAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili304 – 36966Sequence AnalysisAdd
BLAST

Domaini

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

Sequence similaritiesi

Belongs to the IFT57 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG263230.
GeneTreeiENSGT00390000006307.
HOGENOMiHOG000007186.
HOVERGENiHBG054573.
InParanoidiQ9NWB7.
KOiK04638.
OMAiFTWKRPT.
OrthoDBiEOG75B85X.
PhylomeDBiQ9NWB7.
TreeFamiTF106156.

Family and domain databases

InterProiIPR019530. Intra-flagellar_transport_57.
[Graphical view]
PANTHERiPTHR16011. PTHR16011. 1 hit.
PfamiPF10498. IFT57. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NWB7-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MTAALAVVTT SGLEDGVPRS RGEGTGEVVL ERGPGAAYHM FVVMEDLVEK
60 70 80 90 100
LKLLRYEEEF LRKSNLKAPS RHYFALPTNP GEQFYMFCTL AAWLINKAGR
110 120 130 140 150
PFEQPQEYDD PNATISNILS ELRSFGRTAD FPPSKLKSGY GEHVCYVLDC
160 170 180 190 200
FAEEALKYIG FTWKRPIYPV EELEEESVAE DDAELTLNKV DEEFVEEETD
210 220 230 240 250
NEENFIDLNV LKAQTYHLDM NETAKQEDIL ESTTDAAEWS LEVERVLPQL
260 270 280 290 300
KVTIRTDNKD WRIHVDQMHQ HRSGIESALK ETKGFLDKLH NEITRTLEKI
310 320 330 340 350
SSREKYINNQ LENLVQEYRA AQAQLSEAKE RYQQGNGGVT ERTRLLSEVM
360 370 380 390 400
EELEKVKQEM EEKGSSMTDG APLVKIKQSL TKLKQETVEM DIRIGIVEHT
410 420
LLQSKLKEKS NMTRNMHATV IPEPATGFY
Length:429
Mass (Da):49,108
Last modified:October 1, 2000 - v1
Checksum:iD80200D957AE5AC4
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti293 – 2931I → V in AAH09690. (PubMed:15489334)Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2951.1.
RefSeqiNP_060480.1. NM_018010.3.
UniGeneiHs.412196.

Genome annotation databases

EnsembliENST00000264538; ENSP00000264538; ENSG00000114446.
GeneIDi55081.
KEGGihsa:55081.
UCSCiuc003dwx.4. human.

Polymorphism databases

DMDMi74734638.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS2951.1.
RefSeqi NP_060480.1. NM_018010.3.
UniGenei Hs.412196.

3D structure databases

ProteinModelPortali Q9NWB7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120396. 42 interactions.
IntActi Q9NWB7. 8 interactions.
STRINGi 9606.ENSP00000264538.

PTM databases

PhosphoSitei Q9NWB7.

Polymorphism databases

DMDMi 74734638.

Proteomic databases

MaxQBi Q9NWB7.
PaxDbi Q9NWB7.
PRIDEi Q9NWB7.

Protocols and materials databases

DNASUi 55081.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264538 ; ENSP00000264538 ; ENSG00000114446 .
GeneIDi 55081.
KEGGi hsa:55081.
UCSCi uc003dwx.4. human.

Organism-specific databases

CTDi 55081.
GeneCardsi GC03M107879.
HGNCi HGNC:17367. IFT57.
HPAi HPA035514.
HPA035515.
MIMi 606621. gene.
neXtProti NX_Q9NWB7.
PharmGKBi PA27890.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG263230.
GeneTreei ENSGT00390000006307.
HOGENOMi HOG000007186.
HOVERGENi HBG054573.
InParanoidi Q9NWB7.
KOi K04638.
OMAi FTWKRPT.
OrthoDBi EOG75B85X.
PhylomeDBi Q9NWB7.
TreeFami TF106156.

Enzyme and pathway databases

Reactomei REACT_267634. Hedgehog 'off' state.

Miscellaneous databases

ChiTaRSi IFT57. human.
GeneWikii IFT57.
GenomeRNAii 55081.
NextBioi 58626.
PROi Q9NWB7.
SOURCEi Search...

Gene expression databases

Bgeei Q9NWB7.
CleanExi HS_IFT57.
ExpressionAtlasi Q9NWB7. baseline and differential.
Genevestigatori Q9NWB7.

Family and domain databases

InterProi IPR019530. Intra-flagellar_transport_57.
[Graphical view ]
PANTHERi PTHR16011. PTHR16011. 1 hit.
Pfami PF10498. IFT57. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.

Entry informationi

Entry nameiIFT57_HUMAN
AccessioniPrimary (citable) accession number: Q9NWB7
Secondary accession number(s): Q96DA9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: October 1, 2000
Last modified: November 26, 2014
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3