KATNIP - katanin interacting protein Gene

Also Known as JBTS26; KIAA0556

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23247

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

DUF4457: Domain of unknown function (DUF4457) (463 - 606)

DUF4457

DUF4457: Domain of unknown function (DUF4457) (965 - 1108)

DUF4457

DUF4457: Domain of unknown function (DUF4457) (979 - 1128)

DUF4457

DUF4457: Domain of unknown function (DUF4457) (1213 - 1534)

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  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07088 KATNIP Human Pre-designed siRNA Set A Pre-designed Set / 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
Others KATNIP NCBI