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TTLL7 tubulin tyrosine ligase like 7 [ Homo sapiens (human) ]

Gene ID: 79739, updated on 3-Apr-2024

Summary

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Official Symbol
TTLL7provided by HGNC
Official Full Name
tubulin tyrosine ligase like 7provided by HGNC
Primary source
HGNC:HGNC:26242
See related
Ensembl:ENSG00000137941 MIM:618813; AllianceGenome:HGNC:26242
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
Enables alpha-tubulin binding activity; beta-tubulin binding activity; and tubulin-glutamic acid ligase activity. Involved in protein polyglutamylation. Predicted to be located in 9+0 non-motile cilium and ciliary basal body. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 22.0), prostate (RPKM 4.2) and 14 other tissues See more
Orthologs
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Genomic context

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Location:
1p31.1
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (83865024..83999132, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (83705371..83839529, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (84330707..84464815, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985043 Neighboring gene long intergenic non-protein coding RNA 1725 Neighboring gene ADP ribosylation factor 4 pseudogene 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:84157955-84158489 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:84158490-84159025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1009 Neighboring gene uncharacterized LOC101927560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1013 Neighboring gene uncharacterized LOC124904205 Neighboring gene TTLL7 intronic transcript 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:84543332-84543857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1015 Neighboring gene protein kinase cAMP-activated catalytic subunit beta Neighboring gene TXN2 pseudogene 1

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
  • 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. Multivalent Microtubule Recognition by Tubulin Tyrosine Ligase-like Family Glutamylases. Garnham CP, et al. Cell, 2015 May 21. PMID 25959773, Free PMC Article
  2. Genome-wide scan of copy number variation in late-onset Alzheimer's disease. Heinzen EL, et al. J Alzheimers Dis, 2010. PMID 20061627, Free PMC Article
  3. Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. Niu N, et al. BMC Cancer, 2012 Sep 24. PMID 23006423, Free PMC Article
  4. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. Janke C, et al. Science, 2005 Jun 17. PMID 15890843
  5. Genome-wide association study of selenium concentrations. Cornelis MC, et al. Hum Mol Genet, 2015 Mar 1. PMID 25343990, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

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
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
EBI GWAS Catalog
Genome-wide association study of selenium concentrations.
EBI GWAS Catalog
Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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

  • FLJ23033, FLJ36855

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables alpha-tubulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables beta-tubulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables tubulin-glutamic acid ligase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
  
involved_in protein polyglutamylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein polyglutamylation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
tubulin polyglutamylase TTLL7
Names
testis development protein NYD-SP30
tubulin tyrosine ligase-like family, member 7
tubulin--tyrosine ligase-like protein 7

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_001350214.2 → NP_001337143.1  tubulin polyglutamylase TTLL7 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC104454, AI374651, AK126792, AL035706, AL138844, BC032829, HY139706
    Consensus CDS
    CCDS690.2
    UniProtKB/Swiss-Prot
    Q5TAX8, Q5TAX9, Q6P990, Q6ZT98, Q86YS1, Q9H5U4
    Conserved Domains (3) summary
    pfam03133
    Location:91 → 376
    TTL; Tubulin-tyrosine ligase family
    cl24005
    Location:383 → 448
    DUF2570; Protein of unknown function (DUF2570)
    cl25732
    Location:373 → 518
    SMC_N; RecF/RecN/SMC N terminal domain

  2. NM_001350215.2 → NP_001337144.1  tubulin polyglutamylase TTLL7 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AI374651, AK126792, AL035706, AL138844, HY028206
    Conserved Domains (3) summary
    pfam03133
    Location:64 → 349
    TTL; Tubulin-tyrosine ligase family
    cl24005
    Location:356 → 421
    DUF2570; Protein of unknown function (DUF2570)
    cl25732
    Location:346 → 491
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_024686.6 → NP_078962.4  tubulin polyglutamylase TTLL7 isoform 1

    See identical proteins and their annotated locations for NP_078962.4

    Status: VALIDATED

    Source sequence(s)
    AI374651, AK126792, AL035706, AL138844, BC032829, HY139706
    Consensus CDS
    CCDS690.2
    UniProtKB/Swiss-Prot
    Q5TAX8, Q5TAX9, Q6P990, Q6ZT98, Q86YS1, Q9H5U4
    Related
    ENSP00000260505.8, ENST00000260505.13
    Conserved Domains (3) summary
    pfam03133
    Location:91 → 376
    TTL; Tubulin-tyrosine ligase family
    cl24005
    Location:383 → 448
    DUF2570; Protein of unknown function (DUF2570)
    cl25732
    Location:373 → 518
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    83865024..83999132 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430691.1 → XP_047286647.1  tubulin polyglutamylase TTLL7 isoform X3

    Related
    ENST00000472688.5

  2. XM_047430680.1 → XP_047286636.1  tubulin polyglutamylase TTLL7 isoform X1

  3. XM_047430686.1 → XP_047286642.1  tubulin polyglutamylase TTLL7 isoform X2

    Related
    ENSP00000435334.1, ENST00000480174.5

  4. XM_047430700.1 → XP_047286656.1  tubulin polyglutamylase TTLL7 isoform X4

    Related
    ENSP00000484660.1, ENST00000610996.1

RNA

  1. XR_007063701.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    83705371..83839529 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338765.1 → XP_054194740.1  tubulin polyglutamylase TTLL7 isoform X3

  2. XM_054338763.1 → XP_054194738.1  tubulin polyglutamylase TTLL7 isoform X1

  3. XM_054338764.1 → XP_054194739.1  tubulin polyglutamylase TTLL7 isoform X2

  4. XM_054338766.1 → XP_054194741.1  tubulin polyglutamylase TTLL7 isoform X4

RNA

  1. XR_008486165.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZT98.2 GenPept UniProtKB/Swiss-Prot:Q6ZT98

Gene LinkOut

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