TTLL5 - tubulin tyrosine ligase like 5 Gene

Homo sapiens

Also known as STAMP; CORD19; KIAA0998

Gene ID: 23093 | Gene type: protein coding

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

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15232	TTLL5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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