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    TTLL4 tubulin tyrosine ligase like 4 [ Homo sapiens (human) ]

    Gene ID: 9654, updated on 27-Dec-2024

    Summary

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    Official Symbol
    TTLL4provided by HGNC
    Official Full Name
    tubulin tyrosine ligase like 4provided by HGNC
    Primary source
    HGNC:HGNC:28976
    See related
    Ensembl:ENSG00000135912 MIM:618738; AllianceGenome:HGNC:28976
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within regulation of blastocyst development. Predicted to be located in cytosol. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 10.4), brain (RPKM 3.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTLL4 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218710835..218759724)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219197391..219244038)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219575558..219620139)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17128 Neighboring gene ring finger protein 25 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12324 Neighboring gene serine/threonine kinase 36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219563769-219564269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17129 Neighboring gene uncharacterized LOC124907983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12326 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:219584289-219584586 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:219609538-219610737 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:219611731-219612930 Neighboring gene cytochrome P450 family 27 subfamily A member 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:219687585-219688784 Neighboring gene microRNA 9500 Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Tubulin Tyrosine Ligase Like 4 (TTLL4) overexpression in breast cancer cells is associated with brain metastasis and alters exosome biogenesis. Arnold J, et al. J Exp Clin Cancer Res, 2020 Sep 30. PMID 32998758, Free PMC Article
    2. Author Correction: Structural basis for polyglutamate chain initiation and elongation by TTLL family enzymes. Mahalingan KK, et al. Nat Struct Mol Biol, 2020 Sep. PMID 32792670
    3. Polyglutamylation is a post-translational modification with a broad range of substrates. van Dijk J, et al. J Biol Chem, 2008 Feb 15. PMID 18045879
    4. Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1. Trichet V, et al. Gene, 2000 Oct 17. PMID 11054573
    5. Involvement of the tubulin tyrosine ligase-like family member 4 polyglutamylase in PELP1 polyglutamylation and chromatin remodeling in pancreatic cancer cells. Kashiwaya K, et al. Cancer Res, 2010 May 15. PMID 20442285

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tubulin Tyrosine Ligase Like 4 (TTLL4) overexpression in breast cancer cells is associated with brain metastasis and alters exosome biogenesis.
      Title: Tubulin Tyrosine Ligase Like 4 (TTLL4) overexpression in breast cancer cells is associated with brain metastasis and alters exosome biogenesis.
    2. Characterization of another human tubulin tyrosine ligase-like gene family member
      Title: Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    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

    Homology

    Clone Names

    • KIAA0173

    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 ISS
    Inferred from Sequence or Structural Similarity
    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 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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 microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptidyl-glutamic acid modification ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein polyglutamylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of blastocyst development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in 9+0 non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tubulin monoglutamylase TTLL4
    Names
    protein monoglutamylase TTLL4
    tubulin polyglutamylase TTLL4
    tubulin tyrosine ligase-like family, member 4
    tubulin--tyrosine ligase-like protein 4

    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.

    mRNA and Protein(s)

    1. NM_014640.5 → NP_055455.3  tubulin monoglutamylase TTLL4

      See identical proteins and their annotated locations for NP_055455.3

      Status: VALIDATED

      Source sequence(s)
      AC009974, AK291770, DB097392
      Consensus CDS
      CCDS2422.1
      UniProtKB/Swiss-Prot
      A8K6V5, Q14679, Q8WW29
      UniProtKB/TrEMBL
      E7EX20
      Related
      ENSP00000375951.1, ENST00000392102.6
      Conserved Domains (1) summary
      pfam03133
      Location:654 → 946
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      218710835..218759724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446455.1 → XP_047302411.1  tubulin monoglutamylase TTLL4 isoform X4

      UniProtKB/TrEMBL
      E7EX20

    2. XM_047446454.1 → XP_047302410.1  tubulin monoglutamylase TTLL4 isoform X3

      UniProtKB/TrEMBL
      E7EX20

    3. XM_006712875.3 → XP_006712938.1  tubulin monoglutamylase TTLL4 isoform X4

      UniProtKB/TrEMBL
      E7EX20
      Conserved Domains (1) summary
      pfam03133
      Location:654 → 946
      TTL; Tubulin-tyrosine ligase family

    4. XM_047446456.1 → XP_047302412.1  tubulin monoglutamylase TTLL4 isoform X4

      UniProtKB/TrEMBL
      E7EX20

    5. XM_047446457.1 → XP_047302413.1  tubulin monoglutamylase TTLL4 isoform X4

      UniProtKB/TrEMBL
      E7EX20
      Related
      ENSP00000393332.1, ENST00000457313.5

    6. XM_017005388.2 → XP_016860877.1  tubulin monoglutamylase TTLL4 isoform X1

      UniProtKB/TrEMBL
      E7EX20

    7. XM_047446452.1 → XP_047302408.1  tubulin monoglutamylase TTLL4 isoform X2

      UniProtKB/Swiss-Prot
      A8K6V5, Q14679, Q8WW29
      UniProtKB/TrEMBL
      E7EX20

    8. XM_017005387.2 → XP_016860876.1  tubulin monoglutamylase TTLL4 isoform X1

      UniProtKB/TrEMBL
      E7EX20

    9. XM_047446453.1 → XP_047302409.1  tubulin monoglutamylase TTLL4 isoform X2

      UniProtKB/Swiss-Prot
      A8K6V5, Q14679, Q8WW29
      UniProtKB/TrEMBL
      E7EX20

    10. XM_017005390.2 → XP_016860879.1  tubulin monoglutamylase TTLL4 isoform X1

      UniProtKB/TrEMBL
      E7EX20

    11. XM_047446450.1 → XP_047302406.1  tubulin monoglutamylase TTLL4 isoform X2

      UniProtKB/Swiss-Prot
      A8K6V5, Q14679, Q8WW29
      UniProtKB/TrEMBL
      E7EX20

    12. XM_017005391.2 → XP_016860880.1  tubulin monoglutamylase TTLL4 isoform X1

      UniProtKB/TrEMBL
      E7EX20

    13. XM_047446451.1 → XP_047302407.1  tubulin monoglutamylase TTLL4 isoform X2

      UniProtKB/Swiss-Prot
      A8K6V5, Q14679, Q8WW29
      UniProtKB/TrEMBL
      E7EX20
      Related
      ENSP00000258398.4, ENST00000258398.8

    14. XM_047446459.1 → XP_047302415.1  tubulin monoglutamylase TTLL4 isoform X5

    15. XM_047446458.1 → XP_047302414.1  tubulin monoglutamylase TTLL4 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219197391..219244038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344685.1 → XP_054200660.1  tubulin monoglutamylase TTLL4 isoform X4

      UniProtKB/TrEMBL
      E7EX20

    2. XM_054344683.1 → XP_054200658.1  tubulin monoglutamylase TTLL4 isoform X3

      UniProtKB/TrEMBL
      E7EX20

    3. XM_054344684.1 → XP_054200659.1  tubulin monoglutamylase TTLL4 isoform X4

      UniProtKB/TrEMBL
      E7EX20

    4. XM_054344686.1 → XP_054200661.1  tubulin monoglutamylase TTLL4 isoform X4

      UniProtKB/TrEMBL
      E7EX20

    5. XM_054344687.1 → XP_054200662.1  tubulin monoglutamylase TTLL4 isoform X4

      UniProtKB/TrEMBL
      E7EX20

    6. XM_054344678.1 → XP_054200653.1  tubulin monoglutamylase TTLL4 isoform X1

      UniProtKB/TrEMBL
      E7EX20

    7. XM_054344681.1 → XP_054200656.1  tubulin monoglutamylase TTLL4 isoform X2

      UniProtKB/Swiss-Prot
      A8K6V5, Q14679, Q8WW29
      UniProtKB/TrEMBL
      E7EX20

    8. XM_054344675.1 → XP_054200650.1  tubulin monoglutamylase TTLL4 isoform X1

      UniProtKB/TrEMBL
      E7EX20

    9. XM_054344682.1 → XP_054200657.1  tubulin monoglutamylase TTLL4 isoform X2

      UniProtKB/Swiss-Prot
      A8K6V5, Q14679, Q8WW29
      UniProtKB/TrEMBL
      E7EX20

    10. XM_054344676.1 → XP_054200651.1  tubulin monoglutamylase TTLL4 isoform X1

      UniProtKB/TrEMBL
      E7EX20

    11. XM_054344679.1 → XP_054200654.1  tubulin monoglutamylase TTLL4 isoform X2

      UniProtKB/Swiss-Prot
      A8K6V5, Q14679, Q8WW29
      UniProtKB/TrEMBL
      E7EX20

    12. XM_054344677.1 → XP_054200652.1  tubulin monoglutamylase TTLL4 isoform X1

      UniProtKB/TrEMBL
      E7EX20

    13. XM_054344680.1 → XP_054200655.1  tubulin monoglutamylase TTLL4 isoform X2

      UniProtKB/Swiss-Prot
      A8K6V5, Q14679, Q8WW29
      UniProtKB/TrEMBL
      E7EX20

    14. XM_054344689.1 → XP_054200664.1  tubulin monoglutamylase TTLL4 isoform X5

    15. XM_054344688.1 → XP_054200663.1  tubulin monoglutamylase TTLL4 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14679.2 GenPept UniProtKB/Swiss-Prot:Q14679

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