2. Gene
  3. TTLL5 - tubulin tyrosine ligase like 5 Gene

TTLL5 - tubulin tyrosine ligase like 5 Gene

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

中文名称：微管蛋白酪氨酸连接酶 5

种属: Homo sapiens

同用名: STAMP; CORD19; KIAA0998

基因 ID: 23093 | 基因类型: protein coding

关于 TTLL5

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:75,661,246-75,955,079 (from NCBI)

This gene has 22 transcripts (splice variants), 81 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 39.2), thyroid (RPKM 5.0) and 22 other tissues.

功能概要

该基因编码微管蛋白酪氨酸连接酶样蛋白家族的成员。这种蛋白质与两种糖皮质激素受体共激活因子、转录中间因子 2 和类固醇受体共激活因子 1 相互作用。这种蛋白质可能作为糖皮质激素受体介导的基因诱导和抑制的共同调节因子发挥作用。这种蛋白质也可以作为 α 微管蛋白聚谷氨酰胺酶发挥作用。[RefSeq 提供，2010 年 2 月]

This gene encodes a member of the tubulin tyrosine Ligase like protein family. This protein interacts with two Glucocorticoid Receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of Glucocorticoid Receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]

TTLL5 基因产物(1)

mRNA Protein Name
NM_015072.5 NP_055887.3 tubulin polyglutamylase TTLL5
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within retina development in camera-type eye IMP
IMP: 通过突变表型推断
24791901 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
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

TTLL5 蛋白结构

TTL

TTL: Tubulin-tyrosine ligase family (116 - 395)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1281 a.a.
蛋白主名 其他名称

tubulin polyglutamylase TTLL5

SRC1 and TIF2 associated binding protein

关联疾病

疾病名称 别名
Cone-Rod Dystrophy 19

CORD19

Dystrophy, Cone-Rod, Type 19
Choroidal Dystrophy, Central Areolar, 1

Choroidal Sclerosis

Choroidal Dystrophy

Choroidal Dystrophy, Central Areolar

Cacd

Central Areolar Choroidal Dystrophy

CACD1

Choroidal Dystrophy, Central Areolar 1

Choroidal Dystrophy Central Areolar

Central Areolar Choroidal Sclerosis

Choroidal Degenerations

Areolar Atrophy Of The Macula

Partial Central Choroid Dystrophy

Degenerative Choroidopathy

Chorioretinal Degeneration

Hereditary Chorioretinal Degeneration

Hereditary Degeneration Of Choroid

Hereditary Choroidal Dystrophies

Generalised Choroidal Dystrophy

Hereditary Choroidopathy
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
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
Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64

Retinal Dystrophy With Early Macular Involvement

CORD16

RP64
Bardet-Biedl Syndrome 16

BBS16

Bardet-Biedl Syndrome, Type 16
Cone-Rod Dystrophy 18

CORD18

Dystrophy, Cone-Rod, Type 18
Macular Degeneration, Age-Related, 2

Age Related Macular Degeneration 2

ARMD2

Macular Degeneration, Senile

Maculopathy, Age-Related, 2

Macular Degeneration, Age-Related, 2, Susceptibility To

Macular Degeneration, Age-Related, Type 2
Alternating Exotropia

Exotropia
Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3
Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3
Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital
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
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
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-RS15232 TTLL5 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TTLL5 RGD RGD:1563583
Felis catus TTLL5 VGNC VGNC:80812
Mus musculus TTLL5 MGD MGI:2443657
Macaca mulatta TTLL5 VGNC VGNC:99336
Canis familiaris TTLL5 VGNC VGNC:47976
Bos taurus TTLL5 VGNC VGNC:36493
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