Q9NWB7 (IFT57_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	IFT57
Synonyms:	DERP8, ESRRBL1, HIPPI

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	429 AA.
Sequence status	Complete.
Protein existence	Evidence 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 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	Cytoplasm › cytoskeleton › cilium 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.

Ontologies

Keywords
Biological process	Apoptosis Transcription Transcription regulation
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Domain	Coiled coil
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	activation of cysteine-type endopeptidase activity involved in apoptotic process Inferred from direct assay Ref.1. Source: MGI regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: Compara dendrite terminus Inferred from electronic annotation. Source: Compara microtubule basal body Inferred from sequence or structural similarity. Source: UniProtKB photoreceptor connecting cilium Inferred from electronic annotation. Source: Compara
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BLOC1S2	Q6QNY1	3	EBI-725672,EBI-465872

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 429	429	Intraflagellar transport protein 57 homolog		PRO_0000328884
Regions
	Region	335 – 426	92	pDED
	Coiled coil	304 – 369	66	Potential
Experimental info
	Mutagenesis	409	1	K → D: Impairs the interaction with HIP1. Ref.1
	Sequence conflict	293	1	I → V in AAH09690. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Q9NWB7 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: D80200D957AE5AC4	FASTA	429	49,108
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00017537.
RefSeq	NP_060480.1. NM_018010.3.
UniGene	Hs.412196.
3D structure databases
ProteinModelPortal	Q9NWB7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NWB7. 7 interactions.
STRING	9606.ENSP00000264538.
PTM databases
PhosphoSite	Q9NWB7.
Polymorphism databases
DMDM	74734638.
Proteomic databases
PaxDb	Q9NWB7.
PRIDE	Q9NWB7.
Protocols and materials databases
DNASU	55081.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264538; ENSP00000264538; ENSG00000114446.
GeneID	55081.
KEGG	hsa:55081.
UCSC	uc003dwx.4. human.
Organism-specific databases
CTD	55081.
GeneCards	GC03M107879.
HGNC	HGNC:17367. IFT57.
HPA	HPA035514. HPA035515.
MIM	606621. gene.
neXtProt	NX_Q9NWB7.
PharmGKB	PA27890.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG263230.
HOGENOM	HOG000007186.
HOVERGEN	HBG054573.
InParanoid	Q9NWB7.
KO	K04638.
OMA	FTWKRPT.
OrthoDB	EOG408N8J.
PhylomeDB	Q9NWB7.
Gene expression databases
ArrayExpress	Q9NWB7.
Bgee	Q9NWB7.
CleanEx	HS_IFT57.
Genevestigator	Q9NWB7.
Family and domain databases
InterPro	IPR019530. Intra-flagellar_transport_57. [Graphical view]
PANTHER	PTHR16011. PTHR16011. 1 hit.
Pfam	PF10498. IFT57. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	IFT57. human.
GenomeRNAi	55081.
NextBio	58626.
SOURCE	Search...

Entry information

Entry name

IFT57_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 98 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.