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

Gene ID: 23093, updated on 17-Nov-2018

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; Vega:OTTHUMG00000171611
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

Genomic context

See TTLL5 in Genome Data Viewer
Location:
14q24.3
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (75661208..75955082)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76127551..76421425)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene feline leukemia virus subgroup C cellular receptor family member 2 Neighboring gene RNA, 5S ribosomal pseudogene 387 Neighboring gene ergosterol biosynthesis 28 homolog Neighboring gene ribosomal protein S2 pseudogene 43 Neighboring gene VISTA enhancer hs2157 Neighboring gene transforming growth factor beta 3 Neighboring gene intraflagellar transport 43

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117189

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
tubulin-glutamic acid ligase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
protein polyglutamylation TAS
Traceable Author Statement
more info
 
retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cilium IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016974.1 RefSeqGene

    Range
    5001..298875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015072.4NP_055887.3  tubulin polyglutamylase TTLL5

    See identical proteins and their annotated locations for NP_055887.3

    Status: REVIEWED

    Source sequence(s)
    AY237126, BC136472, DA195275, GD137472
    Consensus CDS
    CCDS32124.1
    UniProtKB/Swiss-Prot
    Q6EMB2
    Related
    ENSP00000298832.9, OTTHUMP00000246602, ENST00000298832.13, OTTHUMT00000414453
    Conserved Domains (1) summary
    pfam03133
    Location:117395
    TTL; Tubulin-tyrosine ligase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    75661208..75955082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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