IFT81 - intraflagellar transport 81 Gene

Also Known as DV1; CDV1; CDV-1; CDV1R; CDV-1R; SRTD19

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 28981

About IFT81

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:110,124,357-110,218,793 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 13.7), thyroid (RPKM 5.6) and 23 other tissues.

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 in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]

IFT81 Products (6)

mRNA	Protein	Name
NM_001143779.2	NP_001137251.1	intraflagellar transport protein 81 homolog isoform 1
NM_001347946.2	NP_001334875.1	intraflagellar transport protein 81 homolog isoform 2
NM_001347947.2	NP_001334876.1	intraflagellar transport protein 81 homolog isoform 3
NM_001347948.2	NP_001334877.1	intraflagellar transport protein 81 homolog isoform 3
NM_014055.4	NP_054774.2	intraflagellar transport protein 81 homolog isoform 1
NM_031473.4	NP_113661.2	intraflagellar transport protein 81 homolog isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28428259	GOA
enables tubulin binding	IDA IDA: Inferred from direct assay	23990561	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	23990561	GOA
involved in intraciliary transport involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	23990561	GOA
involved in regulation of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	27666822	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in ciliary basal body	IDA IDA: Inferred from direct assay	23990561	GOA
part of intraciliary transport particle B	IPI IPI: Inferred from physical interaction	26980730	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
intraflagellar transport protein 81 homolog	carnitine deficiency-associated gene expressed in ventricle 1

Related Diseases

Diseases	Alias
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	SRTD19 Short-Rib Thoracic Dysplasia 19 Without Polydactyly
Short Rib-Polydactyly Syndrome
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy
Alstrom Syndrome	ALMS Alström Syndrome Alss Alstrom-Hallgren Syndrome Alstroem Syndrome
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	MFHIEN
Spondylometaphyseal Dysplasia, Sedaghatian Type	SMDS Sedaghatian Chondrodysplasia Spondylometaphyseal Dysplasia Sedaghatian Type Congenital Lethal Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia, Congenital Lethal Lethal Metaphyseal Dysplasia
Ceroid Lipofuscinosis, Neuronal, 1	Neuronal Ceroid Lipofuscinosis 1 CLN1 Infantile Neuronal Ceroid Lipofuscinosis Cln1 Disease Santavuori-Haltia Disease Ceroid Lipofuscinosis, Neuronal, 1, Variable Age At Onset Neuronal Ceroid Lipofuscinosis 1 Variable Age Of Onset Ceroid Lipofuscinosis Neuronal 1 Cln1 Variable Age At Onset Infantile Batten Disease Neuronal Ceroid Lipofuscinosis, Infantile Hagberg-Santavuori Disease Incl Juvenile Neuronal Ceroid Lipofuscinosis With Granular Osmiophilic Deposits Neuronal Ceroid Lipofuscinosis With Variable Age At Onset Santavuori Disease Lipofuscinosis, Ceroid, Neuronal, Type 1 Ceroid Lipofuscinosis, Neuronal 1, Infantile
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Dengue Hemorrhagic Fever	Severe Dengue Dengue Haemorrhagic Fever Dhf Severe Dengue Haemorrhagic Fever Severe Dengue Fever Dengue Shock Syndrome
Dengue Shock Syndrome	Dss
Spastic Paraplegia 36, Autosomal Dominant	SPG36 Hereditary Spastic Paraplegia 36 Autosomal Dominant Spastic Paraplegia Type 36 Autosomal Dominant Spastic Paraplegia 36
Hepatitis D	Delta Hepatitis Hepatitis Delta Hdv Hepatitis D Virus Hepatitis D Infection
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 3 Saldino-Noonan Syndrome SRTD3 Atd3 Srps1 Srps3 Verma-Naumoff Syndrome Srps2b Short Rib-Polydactyly Syndrome, Verma-Naumoff Type Short Rib-Polydactyly Syndrome, Type I Polydactyly With Neonatal Chondrodystrophy, Type I Polydactyly With Neonatal Chondrodystrophy, Type Iii Short Rib-Polydactyly Syndrome, Type Iib Short Rib-Polydactyly Syndrome Type 3 Polydactyly With Neonatal Chondrodystrophy Type Iii Short Rib-Polydactyly Syndrome Type Iii Short Rib-Polydactyly Syndrome Type 1 Short Rib-Polydactyly Syndrome, Saldino-Noonan Type Majewski Syndrome Short Rib-Polydactyly Syndrome, Type Iii Type I Short Rib Polydactyly Syndrome Srps Type 3 Short Rib Polydactyly Syndrome Verma Naumoff Type Verma Naumoff Syndrome Polydactyly With Neonatal Chondrodystrophy Type 1 Srps Type 1 Short Rib-Polydactyly Syndrome Saldino-Noonan Type Jatd Jeune Asphyxiating Thoracic Dystrophy Jeune Syndrome 3 Polydactyly With Neonatal Chondrodystrophy Type I Short Rib-Polydactyly Syndrome Type I Short Rib-Polydactyly Syndrome Type Iib Srps Type Iib Srps Type Iii
Cone-Rod Dystrophy 16	Retinitis Pigmentosa 64 Retinal Dystrophy With Early Macular Involvement CORD16 RP64
Osteopathia Striata With Cranial Sclerosis	Hyperostosis Generalisata With Striations Robinow-Unger Syndrome OSCS Osteopathia Striata Cranial Sclerosis Osteopathia Striata-Cranial Sclerosis Syndrome Horan-Beighton Syndrome Os-Cs Osteopathia Striata - Cranial Sclerosis Voorhoeve Disease Osc
Dengue Disease	Dengue Fever Dengue Df Dengue Shock Syndrome Dengue Virus Infection Breakbone Fever Classic Dengue Classical Dengue Dengue Hemorrhagic Fever Hemorrhagic Dengue Philippine Hemorrhagic Fever Singapore Hemorrhagic Fever Thai Hemorrhagic Fever Severe Dengue Dengue Fever Without Warning Signs Dengue Haemorrhagic Fever Grade 1 Dengue Haemorrhagic Fever Without Warning Signs Bangkok Haemorrhagic Fever Singapore Haemorrhagic Fever Thailand Haemorrhagic Fever Southeast Asia Haemorrhagic Fever Dhf -[Dengue Haemorrhagic Fever] Dengue Fever With Warning Signs Dengue Haemorrhagic Fever With Warning Signs Dengue Haemorrhagic Fever Grade 2 Philippine Haemorrhagic Fever
White-Sutton Syndrome	WHSUS Mrd37 Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome Mental Retardation, Autosomal Dominant 37 Autosomal Dominant Mental Retardation 37 Pogz-Related Intellectual Disability Syndrome
Retinal Degeneration	Degeneration Of Retina
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06609	IFT81 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	IFT81	VGNC	VGNC:41891
Mus musculus	IFT81	MGD	MGI:1098597
Rattus norvegicus	IFT81	RGD	RGD:727862
Felis catus	IFT81	VGNC	VGNC:62886
Bos taurus	IFT81	VGNC	VGNC:30073
Macaca mulatta	IFT81	VGNC	VGNC:73389
Others	IFT81	NCBI