Entity Details

Primary name IFT57_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NWB7
EntryNameIFT57_HUMAN
FullNameIntraflagellar transport protein 57 homolog
TaxID9606
Evidenceevidence at protein level
Length429
SequenceStatuscomplete
DateCreated2008-04-08
DateModified2021-06-02

Ontological Relatives

GenesIFT57

GO terms

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GOName
GO:0001843 neural tube closure
GO:0001947 heart looping
GO:0003677 DNA binding
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005929 cilium
GO:0005930 axoneme
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007224 smoothened signaling pathway
GO:0030992 intraciliary transport particle B
GO:0032391 photoreceptor connecting cilium
GO:0035735 intraciliary transport involved in cilium assembly
GO:0036064 ciliary basal body
GO:0042073 intraciliary transport
GO:0042981 regulation of apoptotic process
GO:0044292 dendrite terminus
GO:0044458 motile cilium assembly
GO:0050680 negative regulation of epithelial cell proliferation
GO:0060972 left/right pattern formation
GO:0097542 ciliary tip
GO:1905515 non-motile cilium assembly

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR019530 Intra-flagellar transport protein 57FamilyFamily

Diseases

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Disease IDSourceNameDescription
617927 OMIMOrofaciodigital syndrome 18 (OFD18)A 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
IFT57_HUMANBL1S2_HUMANBioGRID, IntAct18188704 details
IFT57_HUMANZDH17_HUMANBioGRID, IntAct24705354 details
IFT57_HUMANIFT20_HUMANBioGRID, HPRD, IntAct12821668 26186194 27173435 28514442 29615496 32296183 unassigned1312 details
IFT57_HUMANEXOC5_HUMANBioGRID, IntAct32296183 details
IFT57_HUMANSKA2_HUMANBioGRID, IntAct32296183 details
IFT57_HUMANYAF2_HUMANBioGRID, IntAct32296183 details
IFT57_HUMANHD_HUMANIntAct32814053 details
IFT57_HUMANHIP1_HUMANBioGRID, HPRD11788820 19934260 details
IFT57_HUMANUBX10_HUMANBioGRID26389662 details
IFT57_HUMANWASH1_HUMANBioGRID32296183 details
IFT57_HUMANIFT57_HUMANHPRD16169070 details
IFT57_HUMANSMAD2_HUMANIntAct20195357 details
IFT57_HUMANIF172_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANTT30A_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANMIPT3_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANCOR1B_HUMANBioGRID, IntAct26186194 27173435 unassigned1312 details
IFT57_HUMANCLUA1_HUMANBioGRID, IntAct26186194 27173435 28514442 29615496 unassigned1312 details
IFT57_HUMANIFT80_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANCOR1A_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANDDX24_HUMANBioGRID, IntAct27173435 unassigned1312 details
IFT57_HUMANIFT74_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANIFT88_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANIFT46_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANIFT22_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANTT30B_HUMANBioGRID, IntAct26186194 27173435 28514442 unassigned1312 details
IFT57_HUMANTXND3_HUMANBioGRID, IntAct27173435 unassigned1312 details
IFT57_HUMANCASP8_HUMANBioGRID11788820 details
IFT57_HUMANBFAR_HUMANBioGRID14502241 details
IFT57_HUMANCASP1_HUMANBioGRID19934260 details
IFT57_HUMANCEP43_HUMANBioGRID28625565 details
IFT57_HUMANPRP19_HUMANBioGRID29395067 details