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    TTLL11 tubulin tyrosine ligase like 11 [ Homo sapiens (human) ]

    Gene ID: 158135, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TTLL11provided by HGNC
    Official Full Name
    tubulin tyrosine ligase like 11provided by HGNC
    Primary source
    HGNC:HGNC:18113
    See related
    Ensembl:ENSG00000175764 MIM:620694; AllianceGenome:HGNC:18113
    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
    C9orf20; C9orf148; TTLL11-IT1; bA244O19.1
    Summary
    Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to act upstream of or within microtubule severing and protein polyglutamylation. Predicted to be located in cytosol. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 2.0), testis (RPKM 1.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTLL11 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (121815674..122093308, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (134011659..134290781, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (124577953..124855587, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene DAB2 interacting protein Neighboring gene uncharacterized LOC105376257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124500148-124500924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124504941-124505640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124510791-124511314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:124514713-124515213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124516632-124517247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124517370-124517953 Neighboring gene Sharpr-MPRA regulatory region 3775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124543874-124544863 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:124552172-124552712 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:124556939-124557676 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:124558413-124559150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124573577-124574096 Neighboring gene uncharacterized LOC107987125 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124578825-124579621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124589529-124590300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124650231-124650789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124659227-124659916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124688418-124688918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124748015-124748516 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:124801206-124802405 Neighboring gene uncharacterized LOC124902262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124855115-124855828 Neighboring gene uncharacterized LOC124902263 Neighboring gene microRNA 4478

    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. TTLL11 gene is associated with sustained attention performance and brain networks: A genome-wide association study of a healthy Chinese sample. Liu H, et al. Genes Brain Behav, 2023 Feb. PMID 36511133, Free PMC Article
    2. Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family. Mathieu H, et al. Sci Rep, 2021 May 26. PMID 34040021, Free PMC Article
    3. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. Janke C, et al. Science, 2005 Jun 17. PMID 15890843
    4. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. Letra A, et al. Am J Med Genet A, 2010 Jul. PMID 20583170, Free PMC Article
    5. Genome-wide association study of periodontal pathogen colonization. Divaris K, et al. J Dent Res, 2012 Jul. PMID 22699663, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TTLL11 gene is associated with sustained attention performance and brain networks: A genome-wide association study of a healthy Chinese sample.
      Title: TTLL11 gene is associated with sustained attention performance and brain networks: A genome-wide association study of a healthy Chinese sample.
    2. Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.
      Title: Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association study of periodontal pathogen colonization.
    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

    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, 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 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 microtubule severing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein modification process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tubulin polyglutamylase TTLL11
    Names
    TTLL11 intronic transcript 1
    TTLL11 intronic transcript 1 (non-protein coding)
    tubulin tyrosine ligase like11
    tubulin tyrosine ligase-like family, member 11
    tubulin--tyrosine ligase-like protein 11

    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_001139442.2 → NP_001132914.2  tubulin polyglutamylase TTLL11 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL162423, AL442634, AL445587, AL596244
      Consensus CDS
      CCDS48012.2
      UniProtKB/Swiss-Prot
      A0A8I5KQZ2, F8W6M1, Q8NHH1
      Related
      ENSP00000321346.6, ENST00000321582.11
      Conserved Domains (1) summary
      cl17255
      Location:181 → 482
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    2. NM_001386831.1 → NP_001373760.1  tubulin polyglutamylase TTLL11 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL162423, AL442634, AL445587
      Conserved Domains (1) summary
      cl17255
      Location:181 → 482
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    3. NM_001386832.1 → NP_001373761.1  tubulin polyglutamylase TTLL11 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL445587

    4. NM_001386833.1 → NP_001373762.1  tubulin polyglutamylase TTLL11 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL445587, AL596244

    5. NM_194252.3 → NP_919228.3  tubulin polyglutamylase TTLL11 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF521886, AL445587
      Consensus CDS
      CCDS6834.3
      Related
      ENSP00000362881.4, ENST00000373776.5
      Conserved Domains (1) summary
      cl17255
      Location:181 → 423
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    RNA

    1. NR_171569.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL445587
      Related
      ENST00000411790.1

    2. NR_171570.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL445587

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      121815674..122093308 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422825.1 → XP_047278781.1  tubulin polyglutamylase TTLL11 isoform X2

    2. XM_017014309.3 → XP_016869798.1  tubulin polyglutamylase TTLL11 isoform X1

    RNA

    1. XR_001746188.2 RNA Sequence

    2. XR_929721.4 RNA Sequence

    3. XR_929720.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      134011659..134290781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362063.1 → XP_054218038.1  tubulin polyglutamylase TTLL11 isoform X2

    2. XM_054362064.1 → XP_054218039.1  tubulin polyglutamylase TTLL11 isoform X3

    3. XM_054362066.1 → XP_054218041.1  tubulin polyglutamylase TTLL11 isoform X5

    4. XM_054362067.1 → XP_054218042.1  tubulin polyglutamylase TTLL11 isoform X6

    5. XM_054362065.1 → XP_054218040.1  tubulin polyglutamylase TTLL11 isoform X4

    6. XM_054362062.1 → XP_054218037.1  tubulin polyglutamylase TTLL11 isoform X1

    RNA

    1. XR_008487943.1 RNA Sequence

    2. XR_008487944.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHH1.3 GenPept UniProtKB/Swiss-Prot:Q8NHH1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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