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

Gene ID: 23093, updated on 8-Oct-2024

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
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Genomic context

See TTLL5 in Genome Data Viewer
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_000014.9Genomic Context describing neighboring genes Neighboring gene FLVCR choline and putative heme transporter 2 Neighboring gene RNA, 5S ribosomal pseudogene 387 Neighboring gene Sharpr-MPRA regulatory region 2473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8762 Neighboring gene MPRA-validated peak2202 silencer Neighboring gene ergosterol biosynthesis 28 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76278539-76279044 Neighboring gene NANOG hESC enhancer GRCh37_chr14:76329885-76330389 Neighboring gene ribosomal protein S2 pseudogene 43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5951 Neighboring gene NANOG hESC enhancer GRCh37_chr14:76383602-76384103 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:76399606-76399787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76451759-76452260 Neighboring gene VISTA enhancer hs2157 Neighboring gene transforming growth factor beta 3 Neighboring gene ubiquitin conjugating enzyme E2 L3 pseudogene Neighboring gene intraflagellar transport 43

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC117189

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 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

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

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.

Genomic

  1. NG_016974.1 RefSeqGene

    Range
    5039..298872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015072.5NP_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
    B9EGH8, B9EGH9, Q6EMB2, Q9BUB0, Q9H0G4, Q9H7W2, Q9P1V5, Q9UPZ4
    UniProtKB/TrEMBL
    G3V2J9
    Related
    ENSP00000298832.9, ENST00000298832.14
    Conserved Domains (1) summary
    pfam03133
    Location:117395
    TTL; Tubulin-tyrosine ligase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    75661246..75955079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    69870350..70164265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)