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Protein

Intraflagellar transport protein 57 homolog

Gene

Ift57

Organism
Mus musculus (Mouse)
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. 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

Keywordsi

Molecular functionDNA-binding
Biological processApoptosis, Transcription, Transcription regulation

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 16

Organism-specific databases

MGIiMGI:1921166 Ift57

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, 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)DescriptionActionsGraphical viewLength
ChainiPRO_00003288851 – 429Intraflagellar transport protein 57 homologAdd BLAST429

Proteomic databases

PaxDbiQ8BXG3
PRIDEiQ8BXG3

PTM databases

iPTMnetiQ8BXG3
PhosphoSitePlusiQ8BXG3

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 Expressed in 260 organ(s), highest expression level in testis
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. Interacts with TTC25 (PubMed:25860617).By similarity7 Publications

Protein-protein interaction databases

BioGridi216353, 3 interactors
STRINGi10090.ENSMUSP00000046645

Structurei

3D structure databases

ProteinModelPortaliQ8BXG3
SMRiQ8BXG3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili305 – 369Sequence analysisAdd BLAST65

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

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

Sequences (2+)i

Sequence statusi: Complete.

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

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

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F7B458F7B458_MOUSE
Intraflagellar transport protein 57...
Ift57
301Annotation score:
A0A0R4J1U0A0A0R4J1U0_MOUSE
Intraflagellar transport protein 57...
Ift57
272Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti311L → P in AAK69403 (PubMed:11788820).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0328431 – 85Missing in isoform 2. 1 PublicationAdd BLAST85

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]
ENSMUST00000142682; ENSMUSP00000117882; ENSMUSG00000032965 [Q8BXG3-2]
GeneIDi73916
KEGGimmu:73916
UCSCiuc007zkf.1 mouse [Q8BXG3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
SMRiQ8BXG3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi216353, 3 interactors
STRINGi10090.ENSMUSP00000046645

PTM databases

iPTMnetiQ8BXG3
PhosphoSitePlusiQ8BXG3

Proteomic databases

PaxDbiQ8BXG3
PRIDEiQ8BXG3

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000046777; ENSMUSP00000046645; ENSMUSG00000032965 [Q8BXG3-1]
ENSMUST00000142682; ENSMUSP00000117882; ENSMUSG00000032965 [Q8BXG3-2]
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

PROiPR:Q8BXG3
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000032965 Expressed in 260 organ(s), highest expression level in testis
ExpressionAtlasiQ8BXG3 baseline and differential
GenevisibleiQ8BXG3 MM

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_MOUSE
AccessioniPrimary (citable) accession number: Q8BXG3
Secondary accession number(s): Q924M2, Q9CUS6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 117 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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