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

    Gene ID: 79739, updated on 27-Nov-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, Nov 2024]
    Expression
    Broad expression in brain (RPKM 22.0), prostate (RPKM 4.2) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTLL7 in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (83865024..83999132, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (83705371..83839529, complement)
    RS_2024_09 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 ARF GTPase 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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 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_2024_08

    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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