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Protein

Intraflagellar transport protein 57 homolog

Gene

Ift57

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: 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. 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.1 Publication

GO - Molecular functioni

GO - Biological processi

  • activation of cysteine-type endopeptidase activity involved in apoptotic process Source: MGI
  • apoptotic process Source: MGI
  • cilium assembly Source: GO_Central
  • cilium morphogenesis Source: MGI
  • heart looping Source: MGI
  • intraciliary transport Source: GO_Central
  • left/right pattern formation Source: MGI
  • negative regulation of epithelial cell proliferation Source: MGI
  • neural tube closure Source: MGI
  • regulation of apoptotic process Source: MGI
  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • smoothened signaling pathway Source: MGI
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Apoptosis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiR-MMU-5610787. Hedgehog 'off' state.
R-MMU-5620924. Intraflagellar transport.
R-MMU-5632684. Hedgehog 'on' state.

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 57 homolog
Alternative name(s):
HIP1-interacting protein
Gene namesi
Name:Ift57
Synonyms:Hippi
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 16

Organism-specific databases

MGIiMGI:1921166. Ift57.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: CACAO
  • centrosome Source: MGI
  • ciliary basal body Source: UniProtKB
  • cilium Source: MGI
  • dendrite terminus Source: MGI
  • Golgi apparatus Source: MGI
  • intraciliary transport particle B Source: UniProtKB
  • photoreceptor connecting cilium Source: MGI
  • primary cilium Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Golgi apparatus

Pathology & Biotechi

Disruption phenotypei

Mice show randomization of the embryo turning process and heart looping, which are hallmarks of defective left-right (LR) axis patterning. Motile monocilia normally present at the surface of the embryonic node, and proposed to initiate the break in LR symmetry, are absent. Furthermore, defects in central nervous system development are observed. The Sonic hedgehog (Shh) pathway is down-regulated in the neural tube, resulting in failure to establish ventral neural cell fate.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 429429Intraflagellar transport protein 57 homologPRO_0000328885Add
BLAST

Proteomic databases

MaxQBiQ8BXG3.
PaxDbiQ8BXG3.
PRIDEiQ8BXG3.

PTM databases

iPTMnetiQ8BXG3.
PhosphoSiteiQ8BXG3.

Expressioni

Tissue specificityi

Present in retina and testis. In brain, it is present in the cortex, striatum, globus pallidus, hypothalamus and cerebellum. Present at high level in neurons and neuropil throughout the brain (at protein level). Expressed in hippocampal neurons, where it colocalizes with HOMER1 at postsynaptic regions.3 Publications

Developmental stagei

Ubiquitous through the epiblast. Expression is detected in mesoderm and most strongly in ectoderm, but not in endoderm. Highly expressed in the region of the node, a depression at the surface of the embryo proposed to have a role in left-right axis patterning. At E8.5, it is widely expressed except in the heart. Stronger expression is observed in the anterior midline, the forebrain and the somites. Strong expression remains in the forebrain at E9.5 and E10.5 and extends to all regions of the neural tube. At those stages, high expression is also found in the branchial arches and in the limb buds. Embryo section at E9.5 also shows expression throughout the neural tube and the mesoderm, but not in the surface ectoderm. The strongest expression is observed on the luminal edge of the neural tube and in the ventral foregut.1 Publication

Gene expression databases

BgeeiENSMUSG00000032965.
ExpressionAtlasiQ8BXG3. baseline and differential.
GenevisibleiQ8BXG3. MM.

Interactioni

Subunit structurei

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 (By similarity). 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 leading to prevent pro-apoptotic effects of IFT57.By similarity6 Publications

Protein-protein interaction databases

BioGridi216353. 3 interactions.
STRINGi10090.ENSMUSP00000046645.

Structurei

3D structure databases

ProteinModelPortaliQ8BXG3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili305 – 36965Sequence analysisAdd
BLAST

Domaini

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

Sequence similaritiesi

Belongs to the IFT57 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0972. Eukaryota.
ENOG410XT77. LUCA.
GeneTreeiENSGT00390000006307.
HOGENOMiHOG000007186.
HOVERGENiHBG054573.
InParanoidiQ8BXG3.
KOiK04638.
OMAiVHAHDQD.
OrthoDBiEOG091G0GDF.
PhylomeDBiQ8BXG3.
TreeFamiTF106156.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8BXG3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAAAVIPP SGLDDGVSRA RGEGAGEAVV ERGPGAAYHM FVVMEDLVEK
60 70 80 90 100
LKLLRYEEEL LRKSNLKPPS RHYFALPTNP GEQFYMFCTL AAWLINKTGR
110 120 130 140 150
AFEQPQEYDD PNATISNILS ELRSFGRTAD FPPSKLKSGY GEQVCYVLDC
160 170 180 190 200
LAEEALKYIG FTWKRPSYPV EELEEETVPE DDAELTLSKV DEEFVEEETD
210 220 230 240 250
NEENFIDLNV LKAQTYRLDT NESAKQEDIL ESTTDAAEWS LEVERVLPQL
260 270 280 290 300
KVTIRTDNKD WRIHVDQMHQ HKSGIESALK ETKGFLDKLH NEISRTLEKI
310 320 330 340 350
GSREKYINNQ LEHLVQEYRG AQAQLSEARE RYQQGNGGVT ERTRLLSEVT
360 370 380 390 400
EELEKVKQEM EEKGSSMTDG TPLVKIKQSL TKLKQETVQM DIRIGVVEHT
410 420
LLQSKLKEKC NMTRDMHAAV TPESAIGFY
Length:429
Mass (Da):48,772
Last modified:March 1, 2003 - v1
Checksum:i6498169407BD49D2
GO
Isoform 2 (identifier: Q8BXG3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-85: Missing.

Note: No experimental confirmation available.
Show »
Length:344
Mass (Da):39,503
Checksum:i4F6842AAF9C7F77A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti311 – 3111L → P in AAK69403 (PubMed:11788820).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8585Missing in isoform 2. 1 PublicationVSP_032843Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF274590 mRNA. Translation: AAK69403.1.
DQ266091 mRNA. Translation: ABB72788.1.
AK014731 mRNA. Translation: BAB29522.1.
AK047217 mRNA. Translation: BAC32995.1.
CCDSiCCDS28211.1. [Q8BXG3-1]
RefSeqiNP_082956.2. NM_028680.3. [Q8BXG3-1]
UniGeneiMm.241276.
Mm.404371.

Genome annotation databases

EnsembliENSMUST00000046777; ENSMUSP00000046645; ENSMUSG00000032965. [Q8BXG3-1]
GeneIDi73916.
KEGGimmu:73916.
UCSCiuc007zkf.1. mouse. [Q8BXG3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF274590 mRNA. Translation: AAK69403.1.
DQ266091 mRNA. Translation: ABB72788.1.
AK014731 mRNA. Translation: BAB29522.1.
AK047217 mRNA. Translation: BAC32995.1.
CCDSiCCDS28211.1. [Q8BXG3-1]
RefSeqiNP_082956.2. NM_028680.3. [Q8BXG3-1]
UniGeneiMm.241276.
Mm.404371.

3D structure databases

ProteinModelPortaliQ8BXG3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi216353. 3 interactions.
STRINGi10090.ENSMUSP00000046645.

PTM databases

iPTMnetiQ8BXG3.
PhosphoSiteiQ8BXG3.

Proteomic databases

MaxQBiQ8BXG3.
PaxDbiQ8BXG3.
PRIDEiQ8BXG3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000046777; ENSMUSP00000046645; ENSMUSG00000032965. [Q8BXG3-1]
GeneIDi73916.
KEGGimmu:73916.
UCSCiuc007zkf.1. mouse. [Q8BXG3-1]

Organism-specific databases

CTDi55081.
MGIiMGI:1921166. Ift57.

Phylogenomic databases

eggNOGiKOG0972. Eukaryota.
ENOG410XT77. LUCA.
GeneTreeiENSGT00390000006307.
HOGENOMiHOG000007186.
HOVERGENiHBG054573.
InParanoidiQ8BXG3.
KOiK04638.
OMAiVHAHDQD.
OrthoDBiEOG091G0GDF.
PhylomeDBiQ8BXG3.
TreeFamiTF106156.

Enzyme and pathway databases

ReactomeiR-MMU-5610787. Hedgehog 'off' state.
R-MMU-5620924. Intraflagellar transport.
R-MMU-5632684. Hedgehog 'on' state.

Miscellaneous databases

PROiQ8BXG3.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000032965.
ExpressionAtlasiQ8BXG3. baseline and differential.
GenevisibleiQ8BXG3. MM.

Family and domain databases

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

Entry informationi

Entry nameiIFT57_MOUSE
AccessioniPrimary (citable) accession number: Q8BXG3
Secondary accession number(s): Q924M2, Q9CUS6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: March 1, 2003
Last modified: September 7, 2016
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.