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    TTLL6 tubulin tyrosine ligase like 6 [ Homo sapiens (human) ]

    Gene ID: 284076, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TTLL6provided by HGNC
    Official Full Name
    tubulin tyrosine ligase like 6provided by HGNC
    Primary source
    HGNC:HGNC:26664
    See related
    Ensembl:ENSG00000170703 MIM:610849; AllianceGenome:HGNC:26664
    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
    Also known as
    TTL.6
    Summary
    Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization; protein polyglutamylation; and regulation of cilium beat frequency involved in ciliary motility. Predicted to act upstream of or within microtubule bundle formation; microtubule severing; and positive regulation of cilium movement. Located in ciliary basal body. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 10.4), colon (RPKM 1.9) and 5 other tissues See more
    Orthologs
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    Genomic context

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    See TTLL6 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48762234..48817229, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49625842..49680794, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46839596..46894591, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371811 Neighboring gene uncharacterized LOC105371812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46829979-46830896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46830949-46831938 Neighboring gene RNA, 7SL, cytoplasmic 125, pseudogene Neighboring gene uncharacterized LOC105371813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46908401-46909282 Neighboring gene calcium binding and coiled-coil domain 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12340 Neighboring gene uncharacterized LOC105371814 Neighboring gene SUMO2 pseudogene 17

    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. The testis-specific apoptosis related gene TTL.6 underwent adaptive evolution in the lineage leading to humans. Chen XH, et al. Gene, 2006 Mar 29. PMID 16443334
    2. XBP1 variant 1 promotes mitosis of cancer cells involving upregulation of the polyglutamylase TTLL6. Zhong Y, et al. Hum Mol Genet, 2022 Aug 17. PMID 35333353, Free PMC Article
    3. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Lee JE, et al. Nat Genet, 2012 Jan 15. PMID 22246503, Free PMC Article
    4. Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. Ruderfer DM, et al. Mol Psychiatry, 2014 Sep. PMID 24280982, Free PMC Article
    5. Glutamylation of an HIV-1 protein inhibits the immune response by hijacking STING. Qian G, et al. Cell Rep, 2023 May 30. PMID 37099423

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. XBP1 variant 1 promotes mitosis of cancer cells involving upregulation of the polyglutamylase TTLL6.
      Title: XBP1 variant 1 promotes mitosis of cancer cells involving upregulation of the polyglutamylase TTLL6.
    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
    Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
    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

    • FLJ35808

    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 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-glutamic acid ligase activity ISS
    Inferred from Sequence or Structural Similarity
    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 binding ISS
    Inferred from Sequence or Structural Similarity
    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 microtubule bundle formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule severing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cilium movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein polyglutamylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cilium beat frequency involved in ciliary motility ISS
    Inferred from Sequence or Structural Similarity
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 polyglutamylase TTLL6
    Names
    protein polyglutamylase TTLL6
    tubulin tyrosine ligase-like family member 6
    tubulin--tyrosine ligase-like protein 6

    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_001130918.3 → NP_001124390.1  tubulin polyglutamylase TTLL6 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC068531, AK302952
      Consensus CDS
      CCDS45724.1
      UniProtKB/Swiss-Prot
      B4DZJ5, C9J233, Q24KB1, Q24KB2, Q24KB6, Q24KF3, Q24KJ5, Q24KN7, Q24KS9, Q24KX1, Q24L13, Q24L55, Q24L76, Q658K6, Q8IYW6, Q8N841, Q8NA62
      Related
      ENSP00000377043.3, ENST00000393382.8
      Conserved Domains (1) summary
      pfam03133
      Location:154 → 441
      TTL; Tubulin-tyrosine ligase family

    2. NM_001366314.2 → NP_001353243.1  tubulin polyglutamylase TTLL6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC068531
      Conserved Domains (1) summary
      pfam03133
      Location:1 → 281
      TTL; Tubulin-tyrosine ligase family

    3. NM_173623.4 → NP_775894.2  tubulin polyglutamylase TTLL6 isoform 2

      See identical proteins and their annotated locations for NP_775894.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus when compared to isoform 1.
      Source sequence(s)
      AC068531, BC033563
      Consensus CDS
      CCDS11537.2
      UniProtKB/TrEMBL
      A0AAA9X7X9
      Related
      ENSP00000399211.2, ENST00000433608.6
      Conserved Domains (1) summary
      cl17255
      Location:27 → 134
      ATP-grasp_4; ATP-grasp 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      48762234..48817229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024491.3 → XP_016879980.1  tubulin polyglutamylase TTLL6 isoform X1

    2. XM_017024493.3 → XP_016879982.1  tubulin polyglutamylase TTLL6 isoform X2

    3. XM_047435804.1 → XP_047291760.1  tubulin polyglutamylase TTLL6 isoform X2

    4. XM_047435803.1 → XP_047291759.1  tubulin polyglutamylase TTLL6 isoform X2

    5. XM_017024492.2 → XP_016879981.1  tubulin polyglutamylase TTLL6 isoform X2

    6. XM_017024495.3 → XP_016879984.1  tubulin polyglutamylase TTLL6 isoform X3

      Conserved Domains (1) summary
      cl17255
      Location:2 → 187
      ATP-grasp_4; ATP-grasp domain

    7. XM_047435805.1 → XP_047291761.1  tubulin polyglutamylase TTLL6 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      49625842..49680794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315783.1 → XP_054171758.1  tubulin polyglutamylase TTLL6 isoform X1

    2. XM_054315784.1 → XP_054171759.1  tubulin polyglutamylase TTLL6 isoform X2

    3. XM_054315786.1 → XP_054171761.1  tubulin polyglutamylase TTLL6 isoform X2

    4. XM_054315785.1 → XP_054171760.1  tubulin polyglutamylase TTLL6 isoform X2

    5. XM_054315787.1 → XP_054171762.1  tubulin polyglutamylase TTLL6 isoform X2

    6. XM_054315788.1 → XP_054171763.1  tubulin polyglutamylase TTLL6 isoform X3

    7. XM_054315789.1 → XP_054171764.1  tubulin polyglutamylase TTLL6 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N841.3 GenPept UniProtKB/Swiss-Prot:Q8N841

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