ENSMUSG00000032965


Mus musculus

Features
Gene ID: ENSMUSG00000032965
  
Biological name :Ift57
  
Synonyms : Ift57 / Intraflagellar transport / Q8BXG3
  
Possible biological names infered from orthology : intraflagellar transport 57 / Q9NWB7
  
Species: Mus musculus
  
Chr. number: 16
Strand: 1
Band: B5
Gene start: 49699233
Gene end: 49765126
  
Corresponding Affymetrix probe sets: 10436169 (MoGene1.0st)   1418929_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000046645
Ensembl peptide - ENSMUSP00000117882
Ensembl peptide - ENSMUSP00000116412
NCBI entrez gene - 73916     See in Manteia.
MGI - MGI:1921166
RefSeq - NM_028680
RefSeq Peptide - NP_082956
swissprot - A0A0R4J1U0
swissprot - F7B458
swissprot - B2RQZ0
swissprot - Q8BXG3
Ensembl - ENSMUSG00000032965
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ift57ENSDARG00000021022Danio rerio
 IFT57ENSGALG00000015356Gallus gallus
 IFT57ENSG00000114446Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR019530  Intra-flagellar transport protein 57


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006915 apoptotic process ISO
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 biological_processGO:0007224 smoothened signaling pathway IMP
 biological_processGO:0042073 intraciliary transport IC
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0044458 motile cilium assembly IMP
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IMP
 biological_processGO:0060972 left/right pattern formation IMP
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium TAS
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030992 intraciliary transport particle B IDA
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0032391 photoreceptor connecting cilium IDA
 cellular_componentGO:0036064 ciliary basal body ISO
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0044292 dendrite terminus IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Hedgehog off state
Intraflagellar transport
Hedgehog on state


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000455 abnormal maxilla morphology "malformation of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0000926 absent floor plate "missing ventral midline thinning of the developing neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35802]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004132 absent embryonic cilia "absence of cilia on the cells of the embryonic node " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004180 failure of initiation of embryo turning "failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004188 delayed embryo turning "completion of axial rotation occurs later than in controls but is eventually completed" [smb:Susan M Bello, Mouse Genome Informatics Curator ""]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004190 abnormal direction of embryo turning "axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage (Mus E8.5-E9.5); clockwise rotation is frequently associated with heart and visceral defects" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development"]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004203 abnormal cranial flexure "any structural abnormality or absence of the sharp, ventrally concave bend in the developing midbrain of the embryo" [J:10730, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0006197 ocular hypotelorism "the distance between the eyes is reduced" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Gli3Xt-J/Gli3+
Genetic Background: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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