1. Gene
  2. CROCC - ciliary rootlet coiled-coil, rootletin Gene

CROCC - ciliary rootlet coiled-coil, rootletin Gene

中文名称:纤毛细根卷曲螺旋,rootletin

种属: Homo sapiens

同用名: ROLT; CROCC1; TAX1BP2

基因 ID: 9696 | 基因类型: protein coding

关于 CROCC

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,914,085-16,972,964 (from NCBI)

This gene has 13 transcripts (splice variants), 146 orthologues and 4 paralogues. Ubiquitous expression in skin (RPKM 4.6), spleen (RPKM 3.7) and 25 other tissues.

功能概要

预测启用驱动蛋白结合活性和结构分子活性。参与多个过程,包括中心粒-中心粒凝聚;纤毛组装的正调控;和蛋白质定位到纤毛的正调节。位于细胞骨架中;胞质溶胶;和质膜。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable Kinesin binding activity and structural molecule activity. Involved in several processes, including centriole-centriole cohesion; positive regulation of cilium assembly; and positive regulation of protein localization to cilium. Located in cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

CROCC 基因产物(1)

mRNA Protein Name
NM_014675.5 NP_055490.4 rootletin
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
18086858 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in centriole-centriole cohesion IMP
IMP: 通过突变表型推断
24554434 GOA
involved in centrosome cycle IDA
IDA: 通过直接分析推断
16203858 GOA
involved in positive regulation of cilium assembly IMP
IMP: 通过突变表型推断
27623382 GOA
involved in positive regulation of protein localization to cilium IMP
IMP: 通过突变表型推断
27623382 GOA
involved in protein localization IMP
IMP: 通过突变表型推断
18086858 GOA
involved in protein localization to organelle IMP
IMP: 通过突变表型推断
24554434 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriole IDA
IDA: 通过直接分析推断
24421332 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CROCC 蛋白结构

Rootletin

Rootletin: Ciliary rootlet component, centrosome cohesion (156 - 335)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2017 a.a.
蛋白主名 其他名称

rootletin

Tax1-binding protein 2

关联疾病

疾病名称 别名
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Felis catus CROCC VGNC VGNC:97390
Canis familiaris CROCC VGNC VGNC:54719
Bos taurus CROCC VGNC VGNC:55340
Rattus norvegicus CROCC RGD RGD:1305364
Macaca mulatta CROCC VGNC VGNC:97756
Mus musculus CROCC MGD MGI:3529431