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IFT81 (intraflagellar transport 81)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
28981
Gene nameGene Name - the full gene name approved by the HGNC.
Intraflagellar transport 81
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
IFT81
SynonymsGene synonyms aliases
CDV-1, CDV-1R, CDV1, CDV1R, DV1, SRTD19
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.11
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs143130309 C>A,T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs200335504 C>T Pathogenic, likely-pathogenic Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs576969206 T>C,G Likely-pathogenic Coding sequence variant, intron variant, missense variant, non coding transcript variant, stop gained
rs751222088 G>C Likely-pathogenic, pathogenic Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs761469100 C>T Likely-pathogenic Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT018311 hsa-miR-335-5p Microarray 18185580
MIRT1061148 hsa-miR-208a CLIP-seq
MIRT1061149 hsa-miR-208b CLIP-seq
MIRT1061150 hsa-miR-3153 CLIP-seq
MIRT1061151 hsa-miR-3174 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28428259, 28625565
GO:0005813 Component Centrosome IBA 21873635
GO:0005929 Component Cilium IBA 21873635
GO:0005929 Component Cilium TAS
GO:0007283 Process Spermatogenesis ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WYA0
Protein name Intraflagellar transport protein 81 homolog (Carnitine deficiency-associated protein expressed in ventricle 1) (CDV-1)
Protein function Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region (PubMed:23
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18383 IFT81_CH
3 → 126
Intraflagellar transport 81 calponin homology domain
 Domain
Sequence 
MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQ
TAKRMLSLLGILKYKPSGNATDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLAR
FLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE
EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRL
QRVQNQLKSMRQAAADAKPESLMKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVS
EPAMGHSDLLELESKINEINTEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAE
ELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDEFKRYVNKLRSKSTVFKKKHQIIAE
LKAEFGLLQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKG
RTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQKYQELTQECDEKKSQYDSCAAGLE
SNRSKLEQEVRRLREECLQEESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAI
REQYTKNTAEQENLGKKLREKQKVIRESHGPNMKQAKMWRDLEQLMECKKQCFLKQQSQT
SIGQVIQEGGEDRLIL
Sequence length 676
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Intraflagellar transport
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Jeune thoracic dystrophy Jeune thoracic dystrophy rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905500, rs201188361, rs587776909, rs397514637, rs431905507, rs199952377, rs431905521, rs587777352, rs750396637, rs755338872, rs794727595, rs776315442, rs780539887, rs864622358, rs864622111, rs200460601, rs755883373, rs878852996, rs754919042, rs770185023, rs201858128, rs771487311, rs773858865, rs1043384862, rs562139820, rs771003300, rs754049402, rs552436294, rs943680446, rs746068882, rs368631447, rs1202784860, rs1236962991, rs1453462442, rs1553316926, rs776631281, rs764906529, rs1553753582, rs372576954, rs1553905326, rs748656635, rs377160857, rs1215108056, rs772599282, rs1191056931, rs745603321, rs1553815019, rs1553836165, rs761707323, rs1554770453, rs1554771175, rs555811074, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555049536, rs1555051720, rs745870321, rs1555052511, rs1555052524, rs1555053115, rs901629870, rs762666243, rs1555056464, rs1380132788, rs1555057838, rs753662982, rs747348765, rs1555063811, rs537704873, rs1350329646, rs758155107, rs1196317554, rs747857715, rs969015057, rs1555068270, rs1555068636, rs1555070451, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1218198013, rs780600124, rs1261505725, rs200710887, rs1555081345, rs181011657, rs759649136, rs1555098222, rs1453448143, rs766816050, rs368654019, rs1555052497, rs1223907858, rs759549373, rs1555096711, rs200335504, rs1555038664, rs747165335, rs1565311145, rs1565317399, rs1260978141, rs1565329461, rs767846762, rs376892534, rs1566883760, rs1309577378, rs1565423740, rs1565371538, rs1565359085, rs1159774355, rs1291197898, rs751891969, rs1565390180, rs1558104145, rs1401798992, rs561778796, rs1266078341, rs1565368793, rs373536938, rs765454943, rs1160036887, rs767206815, rs372878677
Macrocephaly Relative macrocephaly rs786204854, rs764333096, rs1557739557
Polydactyly POLYDACTYLY, POSTAXIAL rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Unknown
Disease name Disease term dbSNP ID References
Ambiguous genitalia Ambiguous Genitalia rs782562963
Pulmonary hypoplasia Congenital hypoplasia of lung rs1569032634
Congenital hypoplasia of radius Congenital hypoplasia of radius
Congenital omphalocele Congenital omphalocele

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