2. Gene
  3. TTLL1 - TTL family tubulin polyglutamylase complex subunit L1 Gene

TTLL1 - TTL family tubulin polyglutamylase complex subunit L1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：TTL 家族微管蛋白聚谷氨酰胺酶复合亚基 L1

种属: Homo sapiens

同用名: TPGS3; C22orf7; HS323M22B

基因 ID: 25809 | 基因类型: protein coding

关于 TTLL1

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:43,039,516-43,089,391 (from NCBI)

This gene has 4 transcripts (splice variants), 209 orthologues and 12 paralogues. Broad expression in testis (RPKM 7.3), brain (RPKM 5.8) and 24 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。预计在几个过程的上游或内部起作用，包括小脑浦肯野细胞分化；粘膜纤毛清除；和囊胚发育的调节。预计位于细胞质中；胞外区；和微管细胞骨架。预计在纤毛中活跃。 [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 several processes, including cerebellar Purkinje cell differentiation; mucociliary clearance; and regulation of blastocyst development. Predicted to be located in cytoplasm; extracellular region; and microtubule Cytoskeleton. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Apr 2022]

TTLL1 基因产物(1)

mRNA Protein Name
NM_012263.5 NP_036395.1 polyglutamylase complex subunit TTLL1
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 tubulin-glutamic acid ligase activity IDA
IDA: 通过直接分析推断
34782749 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in microtubule cytoskeleton organization IDA
IDA: 通过直接分析推断
34782749 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in microtubule IDA
IDA: 通过直接分析推断
34782749 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

TTLL1 蛋白结构

TTL

TTL: Tubulin-tyrosine ligase family (59 - 362)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 423 a.a.
蛋白主名 其他名称

polyglutamylase complex subunit TTLL1

PGs3

关联疾病

疾病名称 别名
Cough Variant Asthma
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
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15228 TTLL1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus TTLL1 VGNC VGNC:66685
Mus musculus TTLL1 MGD MGI:2443047
Bos taurus TTLL1 VGNC VGNC:36489
Rattus norvegicus TTLL1 RGD RGD:1309124
Macaca mulatta TTLL1 VGNC VGNC:78903
Canis familiaris TTLL1 VGNC VGNC:47973
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