1. Gene
  2. TTLL6 - tubulin tyrosine ligase like 6 Gene

TTLL6 - tubulin tyrosine ligase like 6 Gene

中文名称:微管蛋白酪氨酸连接酶 6

种属: Homo sapiens

同用名: TTL.6

基因 ID: 284076 | 基因类型: protein coding

关于 TTLL6

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,762,234-48,817,229 (from NCBI)

This gene has 9 transcripts (splice variants), 120 orthologues and 12 paralogues. Biased expression in testis (RPKM 10.4), colon (RPKM 1.9) and 5 other tissues.

功能概要

预计会启用微管蛋白结合活性和微管蛋白-谷氨酸连接酶活性。预计参与微管细胞骨架组织和蛋白质聚谷氨酰化。预测作用于微管束形成的上游或内部;微管切断;和纤毛运动的积极调节。位于睫状体基部。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable tubulin binding activity and tubulin-glutamic acid Ligase activity. Predicted to be involved in microtubule Cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within microtubule bundle formation; microtubule severing; and positive regulation of cilium movement. Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]

TTLL6 基因产物(3)

mRNA Protein Name
NM_001130918.3 NP_001124390.1 tubulin polyglutamylase TTLL6 isoform 1
NM_001366314.2 NP_001353243.1 tubulin polyglutamylase TTLL6 isoform 3
NM_173623.4 NP_775894.2 tubulin polyglutamylase TTLL6 isoform 2
基因本体论
  • 分子功能
  • 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
22246503 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in ciliary basal body IDA
IDA: 通过直接分析推断
22246503 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

TTLL6 蛋白结构

TTL

TTL: Tubulin-tyrosine ligase family (155 - 435)

  • 0
  • 200
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  • 800
  • 891 a.a.
蛋白主名 其他名称

tubulin polyglutamylase TTLL6

protein polyglutamylase TTLL6

关联疾病

疾病名称 别名
Joubert Syndrome 33

JBTS33

Joubert Syndrome, Type 33

Joubert Syndrome 15

JBTS15

Joubert Syndrome, Type 15

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

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
Bos taurus TTLL6 VGNC VGNC:36494
Rattus norvegicus TTLL6 RGD RGD:1311922
Canis familiaris TTLL6 VGNC VGNC:47977
Felis catus TTLL6 VGNC VGNC:66688
Macaca mulatta TTLL6 VGNC VGNC:79632
Mus musculus TTLL6 MGD MGI:2683461