TTLL5 tubulin tyrosine ligase like 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTLL5provided by HGNC
Official Full Name: tubulin tyrosine ligase like 5provided by HGNC
Primary source: HGNC:HGNC:19963
See related: Ensembl:ENSG00000119685 MIM:612268; AllianceGenome:HGNC:19963
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: STAMP; CORD19; KIAA0998
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]
Expression: Broad expression in testis (RPKM 39.2), thyroid (RPKM 5.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.3

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (75661246..75955079)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (69870350..70164265)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (76127589..76421422)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.
Title: Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.
Impaired glutamylation of RPGR[ORF15] underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.
Title: Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Title: Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Title: Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Binding of CSAP to TTLL5 promotes relocalization of TTLL5 toward microtubules.
Title: CSAP Acts as a Regulator of TTLL-Mediated Microtubule Glutamylation.
in a study of 3 family members from 2 generations, identified in a previously misdiagnosed incomplete congenital stationary night blindness (icCSNB) case a splice-site mutation in intron 3 of TTLL5 (c.182-3_182-1delinsAA); reinvestigation of the clinical data corrected the diagnosis to cone dystrophy
Title: Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
5 homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe) and p.(Glu543Lys)] in TTLL5, in 8 patients from 6 families were identified. 2 male patients carrying truncating TTLL5 variants also displayed a reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. TTLL has multiple viable isoforms, being highly expressed in retina, testis and spermatozoon flagellum.
Title: Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
this study has performed exome sequencing in 28 individuals with a similar disease phenotype and subsequently used a casecontrol approach to identify mutations in TTLL5 as a cause of recessive retinal dystrophy.
Title: Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
This study indicates that a physiological function of STAMP in several settings is to modify cell growth rates in a manner that can be independent of steroid hormones.
Title: STAMP alters the growth of transformed and ovarian cancer cells.
STAMP is an important new, downstream component of GR action in both gene activation and gene repression.
Title: STAMP, a novel predicted factor assisting TIF2 actions in glucocorticoid receptor-mediated induction and repression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cone-rod dystrophy 19 MedGen: C4014501 OMIM: 615860 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-68622 (e-PCR)
- UniSTS:95489

MARC_23958-23959:1031924164:1 (e-PCR)
- UniSTS:268812

SHGC-58923 (e-PCR)
- UniSTS:94477

D10S275 (e-PCR)
- UniSTS:147992

WI-12476 (e-PCR)
- UniSTS:26906

RH68902 (e-PCR)
- UniSTS:4380

SHGC-144613 (e-PCR)
- UniSTS:172316

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-85765 (e-PCR)
- UniSTS:182850

RH45771 (e-PCR)
- UniSTS:9286

D14S101E (e-PCR)
- UniSTS:147797

G35922 (e-PCR)
- UniSTS:39290

G36179 (e-PCR)
- UniSTS:44159

D14S61 (e-PCR), detects polymorphism
- UniSTS:33447

SHGC-133005 (e-PCR)
- UniSTS:170970

RH104210 (e-PCR)
- UniSTS:98535

D14S1266 (e-PCR)
- UniSTS:154604

D14S61 (e-PCR), detects polymorphism
- UniSTS:72189

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein-glutamic acid ligase activity, elongating	IEA Inferred from Electronic Annotation more info
enables protein-glutamic acid ligase activity, initiating	IEA Inferred from Electronic Annotation more info
enables tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin-glutamic acid ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin-glutamic acid ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables tubulin-glutamic acid ligase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in protein modification process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: tubulin polyglutamylase TTLL5

Names: SRC1 and TIF2 associated binding protein; SRC1 and TIF2-associated modulatory protein; tubulin tyrosine ligase-like family, member 5

NP_055887.3

EC 6.-.-.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.