IFT81 - intraflagellar transport 81 Gene

Homo sapiens

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

Gene ID: 28981 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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