TTLL5 (tubulin tyrosine ligase like 5)

2014-11-01  

Identity

HGNC
TTLL5
LOCATION
14q24.3
LOCUSID
23093
ALIAS
CORD19,KIAA0998,STAMP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23093
MIM: 612268
HGNC: 19963
Ensembl: ENSG00000119685

Variants:

dbSNP: 23093
ClinVar: 23093
TCGA: ENSG00000119685
COSMIC: TTLL5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119685ENST00000286650Q6EMB2
ENSG00000119685ENST00000298832Q6EMB2
ENSG00000119685ENST00000554510G3V4R8
ENSG00000119685ENST00000555018A0A087WUG0
ENSG00000119685ENST00000556893Q6EMB2
ENSG00000119685ENST00000556977Q2TAY9
ENSG00000119685ENST00000557636G3V2J9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382646102023Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.0
382646102023Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.0
353652352022Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.2
364459682022Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.7
353652352022Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.2
364459682022Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.7
342038832021Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.7
342038832021Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.7
305178722018CSAP Acts as a Regulator of TTLL-Mediated Microtubule Glutamylation.8
305178722018CSAP Acts as a Regulator of TTLL-Mediated Microtubule Glutamylation.8
283567052017Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.6
283567052017Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.6
281731582016Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.18
281731582016Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.18
247919012014Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.45

Citation

Dessen P

TTLL5 (tubulin tyrosine ligase like 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75315