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

Gene ID: 9654, updated on 3-Nov-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 cilium. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 10.4), brain (RPKM 3.1) and 24 other tissues See more
Orthologs
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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: 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

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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)

Genotypes

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 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 ciliary basal body IEA
Inferred from Electronic Annotation
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

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

  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

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

    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

  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

  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

  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
    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

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

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

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

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

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

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

    UniProtKB/Swiss-Prot
    A8K6V5, Q14679, Q8WW29

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

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

    UniProtKB/Swiss-Prot
    A8K6V5, Q14679, Q8WW29

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

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

    UniProtKB/Swiss-Prot
    A8K6V5, Q14679, Q8WW29

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

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

    UniProtKB/Swiss-Prot
    A8K6V5, Q14679, Q8WW29

  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

Gene LinkOut

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