1. Gene
  2. KATNIP - katanin interacting protein Gene

KATNIP - katanin interacting protein Gene

中文名称:剑蛋白相互作用蛋白

种属: Homo sapiens

同用名: JBTS26; KIAA0556

基因 ID: 23247 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种新的、进化上保守的纤毛蛋白。在人类 hTERT-RPE1 细胞中,该蛋白存在于纤毛基部,装饰着纤毛轴丝,并在纤毛尖端富集。该蛋白在体外与微管结合,并在过表达时调节微管的稳定性。该基因的无效突变与 Joubert 综合征有关,Joubert 综合征是一种隐性疾病,其特征是独特的中后脑和小脑畸形,并且通常与更广泛的纤毛病症状有关。一致地,在血清饥饿纤毛发生测定中,来自突变患者的人成纤维细胞显示纤毛异常长的纤毛细胞数量减少。[RefSeq 提供,2016 年 2 月]

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 基因产物(1)

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

KATNIP 蛋白结构

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.
蛋白主名 其他名称

katanin-interacting protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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