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Protein

Intraflagellar transport protein 57 homolog

Gene

IFT57

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processApoptosis, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114446.4
HGNCiHGNC:17367 IFT57
MIMi606621 gene
neXtProtiNX_Q9NWB7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Orofaciodigital syndrome 18 (OFD18)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.
See also OMIM:617927

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi409K → D: Impairs the interaction with HIP1. 1 Publication1

Keywords - Diseasei

Ciliopathy

Organism-specific databases

DisGeNETi55081
MIMi617927 phenotype
OpenTargetsiENSG00000114446
PharmGKBiPA27890

Polymorphism and mutation databases

BioMutaiIFT57
DMDMi74734638

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003288841 – 429Intraflagellar transport protein 57 homologAdd BLAST429

Proteomic databases

EPDiQ9NWB7
MaxQBiQ9NWB7
PaxDbiQ9NWB7
PeptideAtlasiQ9NWB7
PRIDEiQ9NWB7
ProteomicsDBi82925

PTM databases

iPTMnetiQ9NWB7
PhosphoSitePlusiQ9NWB7

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

BgeeiENSG00000114446 Expressed in 220 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_IFT57
ExpressionAtlasiQ9NWB7 baseline and differential
GenevisibleiQ9NWB7 HS

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. Interacts with TTC25 (PubMed:25860617).By similarity4 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi120396, 59 interactors
CORUMiQ9NWB7
IntActiQ9NWB7, 29 interactors
STRINGi9606.ENSP00000264538

Structurei

3D structure databases

ProteinModelPortaliQ9NWB7
SMRiQ9NWB7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni335 – 426pDEDAdd BLAST92

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili304 – 369Sequence analysisAdd BLAST66

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

eggNOGiKOG0972 Eukaryota
ENOG410XT77 LUCA
GeneTreeiENSGT00390000006307
HOGENOMiHOG000007186
HOVERGENiHBG054573
InParanoidiQ9NWB7
KOiK04638
OMAiQTYRLDM
OrthoDBiEOG091G0GDF
PhylomeDBiQ9NWB7
TreeFamiTF106156

Family and domain databases

InterProiView protein in InterPro
IPR019530 Intra-flagellar_transport_57
PANTHERiPTHR16011 PTHR16011, 1 hit
PfamiView protein in Pfam
PF10498 IFT57, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WBM2F8WBM2_HUMAN
Intraflagellar transport protein 57...
IFT57
81Annotation score:
C9JB84C9JB84_HUMAN
Intraflagellar transport protein 57...
IFT57
157Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti293I → V in AAH09690 (PubMed:15489334).Curated1

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

Similar proteinsi

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
CCDSiCCDS2951.1
RefSeqiNP_060480.1, NM_018010.3
UniGeneiHs.412196

3D structure databases

ProteinModelPortaliQ9NWB7
SMRiQ9NWB7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120396, 59 interactors
CORUMiQ9NWB7
IntActiQ9NWB7, 29 interactors
STRINGi9606.ENSP00000264538

PTM databases

iPTMnetiQ9NWB7
PhosphoSitePlusiQ9NWB7

Polymorphism and mutation databases

BioMutaiIFT57
DMDMi74734638

Proteomic databases

EPDiQ9NWB7
MaxQBiQ9NWB7
PaxDbiQ9NWB7
PeptideAtlasiQ9NWB7
PRIDEiQ9NWB7
ProteomicsDBi82925

Protocols and materials databases

DNASUi55081
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55081
DisGeNETi55081
EuPathDBiHostDB:ENSG00000114446.4
GeneCardsiIFT57
HGNCiHGNC:17367 IFT57
HPAiHPA035514
HPA035515
MIMi606621 gene
617927 phenotype
neXtProtiNX_Q9NWB7
OpenTargetsiENSG00000114446
PharmGKBiPA27890
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0972 Eukaryota
ENOG410XT77 LUCA
GeneTreeiENSGT00390000006307
HOGENOMiHOG000007186
HOVERGENiHBG054573
InParanoidiQ9NWB7
KOiK04638
OMAiQTYRLDM
OrthoDBiEOG091G0GDF
PhylomeDBiQ9NWB7
TreeFamiTF106156

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

Miscellaneous databases

ChiTaRSiIFT57 human
GeneWikiiIFT57
GenomeRNAii55081
PROiPR:Q9NWB7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114446 Expressed in 220 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_IFT57
ExpressionAtlasiQ9NWB7 baseline and differential
GenevisibleiQ9NWB7 HS

Family and domain databases

InterProiView protein in InterPro
IPR019530 Intra-flagellar_transport_57
PANTHERiPTHR16011 PTHR16011, 1 hit
PfamiView protein in Pfam
PF10498 IFT57, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiIFT57_HUMAN
AccessioniPrimary (citable) accession number: Q9NWB7
Secondary accession number(s): Q96DA9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: October 1, 2000
Last modified: October 10, 2018
This is version 143 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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