TTLL5 - tubulin tyrosine ligase like 5 Gene

Also Known as STAMP; CORD19; KIAA0998

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23093

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_015072.5 NP_055887.3 tubulin polyglutamylase TTLL5
Biological Process GO Annotation Evidence References Source
acts upstream of or within retina development in camera-type eye IMP
IMP: Inferred from mutant phenotype
24791901 GOA
Cellular Component GO Annotation Evidence References Source
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TTLL5 Protein Structure

TTL

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

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1281 a.a.
Protein Preferred Names Protein Names

tubulin polyglutamylase TTLL5

  • SRC1 and TIF2 associated binding protein

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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