1. Gene
  2. TTLL3 - tubulin tyrosine ligase like 3 Gene

TTLL3 - tubulin tyrosine ligase like 3 Gene

中文名称:微管蛋白酪氨酸连接酶样 3

种属: Homo sapiens

同用名: HOTTL

基因 ID: 26140 | 基因类型: protein coding

关于 TTLL3

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:9,809,727-9,836,365 (from NCBI)

This gene has 35 transcripts (splice variants), 240 orthologues and 12 paralogues. Ubiquitous expression in ovary (RPKM 13.9), testis (RPKM 13.9) and 24 other tissues.

功能概要

启用蛋白质-甘氨酸连接酶活性。预计参与轴丝组装和带鞭毛的精子活动。预测位于轴丝;微管细胞骨架;和精子鞭毛。 [由基因组资源联盟提供,2022 年 4 月]

Enables protein-glycine Ligase activity. Predicted to be involved in axoneme assembly and flagellated sperm motility. Predicted to be located in axoneme; microtubule cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022]

TTLL3 基因产物(24)

mRNA Protein Name
NM_001025930.5 NP_001021100.3 tubulin monoglycylase TTLL3 isoform 1
NM_001366051.2 NP_001352980.1 tubulin monoglycylase TTLL3 isoform 2
NM_001387446.1 NP_001374375.1 tubulin monoglycylase TTLL3 isoform 3
NM_001387447.1 NP_001374376.1 tubulin monoglycylase TTLL3 isoform 4
NM_001387448.1 NP_001374377.1 tubulin monoglycylase TTLL3 isoform 5
NM_001387449.1 NP_001374378.1 tubulin monoglycylase TTLL3 isoform 6
NM_001387450.1 NP_001374379.1 tubulin monoglycylase TTLL3 isoform 7
NM_001387451.1 NP_001374380.1 tubulin monoglycylase TTLL3 isoform 8
NM_001387452.1 NP_001374381.1 tubulin monoglycylase TTLL3 isoform 9
NM_001387453.1 NP_001374382.1 tubulin monoglycylase TTLL3 isoform 10
NM_001387454.1 NP_001374383.1 tubulin monoglycylase TTLL3 isoform 11
NM_001387455.1 NP_001374384.1 tubulin monoglycylase TTLL3 isoform 11
NM_001387456.1 NP_001374385.1 tubulin monoglycylase TTLL3 isoform 11
NM_001387457.1 NP_001374386.1 tubulin monoglycylase TTLL3 isoform 12
NM_001387458.1 NP_001374387.1 tubulin monoglycylase TTLL3 isoform 13
NM_001387459.1 NP_001374388.1 tubulin monoglycylase TTLL3 isoform 14
NM_001387460.1 NP_001374389.1 tubulin monoglycylase TTLL3 isoform 14
NM_001387461.1 NP_001374390.1 tubulin monoglycylase TTLL3 isoform 15
NM_001387462.1 NP_001374391.1 tubulin monoglycylase TTLL3 isoform 16
NM_001387463.1 NP_001374392.1 tubulin monoglycylase TTLL3 isoform 17
NM_001387464.1 NP_001374393.1 tubulin monoglycylase TTLL3 isoform 18
NM_001387465.1 NP_001374394.1 tubulin monoglycylase TTLL3 isoform 18
NM_001387466.1 NP_001374395.1 tubulin monoglycylase TTLL3 isoform 19
NM_001387467.1 NP_001374396.1 tubulin monoglycylase TTLL3 isoform 20
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein-glycine ligase activity IDA
IDA: 通过直接分析推断
19524510 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in protein polyglycylation IDA
IDA: 通过直接分析推断
19524510 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

TTLL3 蛋白结构

TTL

TTL: Tubulin-tyrosine ligase family (359 - 644)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 915 a.a.
蛋白主名 其他名称

tubulin monoglycylase TTLL3

tubulin tyrosine ligase-like family, member 3

关联疾病

疾病名称 别名
Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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
Mus musculus TTLL3 MGD MGI:2141418
Rattus norvegicus TTLL3 RGD RGD:1311255