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

    Gene ID: 23093, updated on 9-Dec-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
    NEW
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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
    • 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 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

    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)

    NEW Try the new Transcript table

    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)