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

Gene ID: 158135, updated on 2-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
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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)

Genotypes

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 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 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 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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