IFT81 (intraflagellar transport 81)

Gene

• Entrez ID: 28981
• Gene name: Intraflagellar transport 81
• Gene symbol: IFT81
• Synonyms (NCBI Gene): CDV-1, CDV-1R, CDV1, CDV1R, DV1, SRTD19
• Chromosome: 12
• Chromosome location: 12q24.11
• Summary: 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

SNPs

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
rs1555266475	CTT>-	Likely-pathogenic, uncertain-significance	Inframe deletion, non coding transcript variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant

miRNA

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
MIRT1061152	hsa-miR-3658	CLIP-seq
MIRT1061153	hsa-miR-3667-5p	CLIP-seq
MIRT1061154	hsa-miR-3675-3p	CLIP-seq
MIRT1061155	hsa-miR-4261	CLIP-seq
MIRT1061156	hsa-miR-4646-5p	CLIP-seq
MIRT1061157	hsa-miR-4668-5p	CLIP-seq
MIRT1061158	hsa-miR-4786-5p	CLIP-seq
MIRT1061159	hsa-miR-494	CLIP-seq
MIRT1061160	hsa-miR-499-5p	CLIP-seq
MIRT1061161	hsa-miR-661	CLIP-seq
MIRT1061162	hsa-miR-769-5p	CLIP-seq
MIRT1061163	hsa-miR-921	CLIP-seq
MIRT1061150	hsa-miR-3153	CLIP-seq
MIRT1061151	hsa-miR-3174	CLIP-seq
MIRT1061153	hsa-miR-3667-5p	CLIP-seq
MIRT1061155	hsa-miR-4261	CLIP-seq
MIRT1061156	hsa-miR-4646-5p	CLIP-seq
MIRT1061157	hsa-miR-4668-5p	CLIP-seq
MIRT1061158	hsa-miR-4786-5p	CLIP-seq
MIRT1061159	hsa-miR-494	CLIP-seq
MIRT1061161	hsa-miR-661	CLIP-seq
MIRT1061162	hsa-miR-769-5p	CLIP-seq
MIRT1061163	hsa-miR-921	CLIP-seq
MIRT2550041	hsa-miR-141	CLIP-seq
MIRT2550042	hsa-miR-200a	CLIP-seq
MIRT2550043	hsa-miR-4433	CLIP-seq
MIRT2550044	hsa-miR-4459	CLIP-seq
MIRT2550045	hsa-miR-4768-3p	CLIP-seq
MIRT2550046	hsa-miR-500a	CLIP-seq
MIRT2550041	hsa-miR-141	CLIP-seq
MIRT2550042	hsa-miR-200a	CLIP-seq
MIRT1061150	hsa-miR-3153	CLIP-seq
MIRT1061151	hsa-miR-3174	CLIP-seq
MIRT1061153	hsa-miR-3667-5p	CLIP-seq
MIRT1061155	hsa-miR-4261	CLIP-seq
MIRT2550043	hsa-miR-4433	CLIP-seq
MIRT2550044	hsa-miR-4459	CLIP-seq
MIRT1061156	hsa-miR-4646-5p	CLIP-seq
MIRT1061157	hsa-miR-4668-5p	CLIP-seq
MIRT2550045	hsa-miR-4768-3p	CLIP-seq
MIRT1061159	hsa-miR-494	CLIP-seq
MIRT2550046	hsa-miR-500a	CLIP-seq
MIRT1061161	hsa-miR-661	CLIP-seq
MIRT1061163	hsa-miR-921	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28428259, 28625565, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0008589	Process	Regulation of smoothened signaling pathway	IMP	27666822
GO:0015631	Function	Tubulin binding	IBA
GO:0015631	Function	Tubulin binding	IDA	23990561
GO:0015631	Function	Tubulin binding	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA
GO:0030992	Component	Intraciliary transport particle B	IEA
GO:0030992	Component	Intraciliary transport particle B	IPI	26980730
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0031514	Component	Motile cilium	ISS
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IMP	23990561
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	23990561, 36606424
GO:0042073	Process	Intraciliary transport	IBA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	23990561, 27666822
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0097225	Component	Sperm midpiece	IEA
GO:0097228	Component	Sperm principal piece	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0120316	Process	Sperm flagellum assembly	IEA
GO:0120316	Process	Sperm flagellum assembly	ISS

Other IDs

• MIM: 605489
• HGNC: 14313
• e!Ensembl: ENSG00000122970

Protein

• 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

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis, moderately in ovary, heart, liver, skeletal muscle, kidney and pancreas, low in prostate, brain, placenta and lung and not detected in spleen, thymus, small intestine and colon. Isoform CDV-1R is abundantly
• Sequence:

  MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQ
  TAKRMLSLLGILKYKPSGNATDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLAR
  FLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE
  EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRL
  QRVQNQLKSMRQAAADAKPESLMKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVS
  EPAMGHSDLLELESKINEINTEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAE
  ELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDEFKRYVNKLRSKSTVFKKKHQIIAE
  LKAEFGLLQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKG
  RTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQKYQELTQECDEKKSQYDSCAAGLE
  SNRSKLEQEVRRLREECLQEESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAI
  REQYTKNTAEQENLGKKLREKQKVIRESHGPNMKQAKMWRDLEQLMECKKQCFLKQQSQT
  SIGQVIQEGGEDRLIL

• Sequence length: 676

Pathways

Reactome:

Intraflagellar transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hepatocellular carcinoma	Likely pathogenic	rs775681854	RCV005934981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs200335504	RCV000755163	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs200079673	RCV005909091	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs200335504	RCV004817788	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic	rs761469100	RCV000736123	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 19 with or without polydactyly	Likely pathogenic; Pathogenic	rs1868517084, rs372027811, rs2499921727, rs200335504, rs751222088, rs576969206, rs201791587	RCV001328713 RCV001783473 RCV003493340 RCV000755722 RCV000755740 RCV000585747 RCV001822868	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY	Likely pathogenic; Pathogenic	rs200335504, rs751222088	RCV000585764 RCV000585777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive retinitis pigmentosa	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathy	Uncertain significance	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IFT81-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26275418	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	26275418	Associate	★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis Neuronal 1	Neuronal ceroid lipofuscinosis	Pubtator	26275418	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	26275418	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	28460050		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	28460050		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30809043	Associate	★☆☆☆☆ Found in Text Mining only
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	30080953		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	30080953		★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	26275418	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	26275418	Associate	★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	28460050		★☆☆☆☆ Found in Text Mining only
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	GENOMICS_ENGLAND_DG	26275418, 27666822, 30080953		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	UNIPROT_DG	27666822		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	CLINVAR_DG	27666822		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY	SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only