KATNIP - katanin interacting protein Gene

Homo sapiens

Also known as JBTS26; KIAA0556

Gene ID: 23247 | Gene type: protein coding

About KATNIP

Cytogenetic location: 16p12.1 Genomic coordinates (GRCh38): 16:27,550,144-27,780,344 (from NCBI)

This gene has 10 transcripts (splice variants), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 9.1), testis (RPKM 6.5) and 25 other tissues.

Summary

This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]

KATNIP Products(1)

mRNA	Protein	Name
NM_015202.5	NP_056017.4	katanin-interacting protein

KATNIP Protein Structure

DUF4457

0
300
600
900
1200
1500
1618 a.a.

Protein Preferred Names

Protein Names

katanin-interacting protein

Related Diseases

Diseases

Alias

Joubert Syndrome 26

JBTS26

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

Joubert Syndrome 25

JBTS25

Joubert Syndrome, Type 25

Cerebellar Malformation

Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21

Polymicrogyria

Pmg

Polymicrogyria, Bilateral Frontoparietal

Bilateral Frontoparietal Polymicrogyria	BFPP
Cerebellar Ataxia With Neuronal Migration Defect

Infantile Liver Failure Syndrome

Infantile Liver Failure

Acrocallosal Syndrome

ACLS	Schinzel Acrocallosal Syndrome
Joubert Syndrome 12	Schinzel Syndrome 1
Acrocallosal Syndrome, Schinzel Type	Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
Acs	Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly
Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum	JBTS12
Acrocallosal Syndrome

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS07088	KATNIP Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KATNIP	VGNC	VGNC:42348
Bos taurus	KATNIP	VGNC	VGNC:59340
Rattus norvegicus	KATNIP	RGD	RGD:1595846
Mus musculus	KATNIP	MGD	MGI:2442760
Felis catus	KATNIP	VGNC	VGNC:82555
Macaca mulatta	KATNIP	VGNC	VGNC:73927

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