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    TTLL3 tubulin tyrosine ligase like 3 [ Homo sapiens (human) ]

    Gene ID: 26140, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TTLL3provided by HGNC
    Official Full Name
    tubulin tyrosine ligase like 3provided by HGNC
    Primary source
    HGNC:HGNC:24483
    See related
    Ensembl:ENSG00000214021 MIM:619195; AllianceGenome:HGNC:24483
    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
    HOTTL
    Summary
    Enables protein-glycine ligase activity. Predicted to be involved in axoneme assembly; flagellated sperm motility; and protein polyglycylation. Predicted to be located in sperm flagellum. Predicted to be active in axoneme and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 13.9), testis (RPKM 13.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTLL3 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9809727..9836365)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (9801679..9828366)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9851411..9878049)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 8-oxoguanine DNA glycosylase Neighboring gene calcium/calmodulin dependent protein kinase I Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14040 Neighboring gene Sharpr-MPRA regulatory region 4794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14041 Neighboring gene transcriptional adaptor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9832484-9832984 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14042 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9834089-9834615 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9834616-9835142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19409 Neighboring gene ARPC4-TTLL3 readthrough Neighboring gene actin related protein 2/3 complex subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14044 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:9866222-9866442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9867034-9867534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9867535-9868035 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9868869-9869369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9876763-9877262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19411 Neighboring gene RNA pseudouridine synthase D3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:9890179-9891039 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9895593-9896262 Neighboring gene MARK2 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 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. Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1. Trichet V, et al. Gene, 2000 Oct 17. PMID 11054573
    2. Evolutionary divergence of enzymatic mechanisms for posttranslational polyglycylation. Rogowski K, et al. Cell, 2009 Jun 12. PMID 19524510
    3. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. So J, et al. Sci Signal, 2015 Apr 7. PMID 25852190
    4. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
    5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of another human tubulin tyrosine ligase-like gene family member
      Title: Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1.
    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

    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

    Readthrough ARPC4-TTLL3

    Readthrough gene: ARPC4-TTLL3, Included gene: ARPC4

    Homology

    Clone Names

    • FLJ13898, MGC120529, MGC120530, MGC120532, DKFZp434B103, DKFZp686D076

    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-glycine ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-glycine ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein-glycine ligase activity, initiating IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-glycine ligase activity, initiating ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in protein polyglycylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    tubulin monoglycylase TTLL3
    Names
    tubulin tyrosine ligase-like family, member 3
    tubulin--tyrosine ligase-like protein 3
    NP_001021100.3
    NP_001352980.1
    NP_001374375.1
    NP_001374376.1
    NP_001374377.1
    NP_001374378.1
    NP_001374379.1
    NP_001374380.1
    NP_001374381.1
    NP_001374382.1
    NP_001374383.1
    NP_001374384.1
    NP_001374385.1
    NP_001374386.1
    NP_001374387.1
    NP_001374388.1
    NP_001374389.1
    NP_001374390.1
    NP_001374391.1
    NP_001374392.1
    NP_001374393.1
    NP_001374394.1
    NP_001374395.1
    NP_001374396.1

    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_001025930.5 → NP_001021100.3  tubulin monoglycylase TTLL3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1), and represents use of a different promoter relative to variant 3.
      Source sequence(s)
      AC018809, AC022382, AK023960
      UniProtKB/TrEMBL
      J3KQB2
      Conserved Domains (1) summary
      pfam03133
      Location:356 → 648
      TTL; Tubulin-tyrosine ligase family

    2. NM_001366051.2 → NP_001352980.1  tubulin monoglycylase TTLL3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR relative to variant 1, and represents use of a different promoter, resulting in the use of a downstream start codon relative to variant 1. The encoded isoform is shorter at the N-terminus relative to variant 1.
      Source sequence(s)
      AC018809, AC022382, AK023960
      Consensus CDS
      CCDS93200.1
      UniProtKB/Swiss-Prot
      Q4KMS8, Q6AWA3, Q6ZU95, Q8NDN8, Q96GG8, Q9H876, Q9UI99, Q9Y4R7
      Related
      ENSP00000392549.5, ENST00000426895.10
      Conserved Domains (1) summary
      pfam03133
      Location:213 → 505
      TTL; Tubulin-tyrosine ligase family

    3. NM_001387446.1 → NP_001374375.1  tubulin monoglycylase TTLL3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      Consensus CDS
      CCDS93199.1
      UniProtKB/TrEMBL
      A0A8I5KXU2
      Related
      ENSP00000510679.1, ENST00000685419.1
      Conserved Domains (1) summary
      pfam03133
      Location:256 → 548
      TTL; Tubulin-tyrosine ligase family

    4. NM_001387447.1 → NP_001374376.1  tubulin monoglycylase TTLL3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      Conserved Domains (1) summary
      cl17255
      Location:256 → 492
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    5. NM_001387448.1 → NP_001374377.1  tubulin monoglycylase TTLL3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0A994J3Y4
      Related
      ENSP00000515513.1, ENST00000703870.1
      Conserved Domains (1) summary
      pfam03133
      Location:213 → 505
      TTL; Tubulin-tyrosine ligase family

    6. NM_001387449.1 → NP_001374378.1  tubulin monoglycylase TTLL3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0AAQ5BIG3
      Conserved Domains (1) summary
      pfam03133
      Location:213 → 505
      TTL; Tubulin-tyrosine ligase family

    7. NM_001387450.1 → NP_001374379.1  tubulin monoglycylase TTLL3 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0A994J3Y4
      Conserved Domains (1) summary
      pfam03133
      Location:271 → 563
      TTL; Tubulin-tyrosine ligase family

    8. NM_001387451.1 → NP_001374380.1  tubulin monoglycylase TTLL3 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0AAQ5BIG3
      Conserved Domains (1) summary
      pfam03133
      Location:223 → 515
      TTL; Tubulin-tyrosine ligase family

    9. NM_001387452.1 → NP_001374381.1  tubulin monoglycylase TTLL3 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      Conserved Domains (1) summary
      pfam03133
      Location:180 → 472
      TTL; Tubulin-tyrosine ligase family

    10. NM_001387453.1 → NP_001374382.1  tubulin monoglycylase TTLL3 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0AAQ5BIG3
      Conserved Domains (1) summary
      pfam03133
      Location:180 → 472
      TTL; Tubulin-tyrosine ligase family

    11. NM_001387454.1 → NP_001374383.1  tubulin monoglycylase TTLL3 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0A994J3Y4
      Conserved Domains (1) summary
      pfam03133
      Location:256 → 548
      TTL; Tubulin-tyrosine ligase family

    12. NM_001387455.1 → NP_001374384.1  tubulin monoglycylase TTLL3 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0A994J3Y4
      Related
      ENSP00000312148.7, ENST00000310252.11
      Conserved Domains (1) summary
      pfam03133
      Location:256 → 548
      TTL; Tubulin-tyrosine ligase family

    13. NM_001387456.1 → NP_001374385.1  tubulin monoglycylase TTLL3 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0A994J3Y4
      Conserved Domains (1) summary
      pfam03133
      Location:256 → 548
      TTL; Tubulin-tyrosine ligase family

    14. NM_001387457.1 → NP_001374386.1  tubulin monoglycylase TTLL3 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0AAQ5BIG3
      Related
      ENSP00000520491.1, ENST00000715597.1
      Conserved Domains (1) summary
      cl17255
      Location:256 → 492
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    15. NM_001387458.1 → NP_001374387.1  tubulin monoglycylase TTLL3 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0AAQ5BIG3
      Conserved Domains (1) summary
      pfam03133
      Location:180 → 472
      TTL; Tubulin-tyrosine ligase family

    16. NM_001387459.1 → NP_001374388.1  tubulin monoglycylase TTLL3 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0A994J3Y4
      Conserved Domains (1) summary
      pfam03133
      Location:223 → 515
      TTL; Tubulin-tyrosine ligase family

    17. NM_001387460.1 → NP_001374389.1  tubulin monoglycylase TTLL3 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0A994J3Y4
      Conserved Domains (1) summary
      pfam03133
      Location:223 → 515
      TTL; Tubulin-tyrosine ligase family

    18. NM_001387461.1 → NP_001374390.1  tubulin monoglycylase TTLL3 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0A994J3Y4
      Conserved Domains (1) summary
      pfam03133
      Location:213 → 505
      TTL; Tubulin-tyrosine ligase family

    19. NM_001387462.1 → NP_001374391.1  tubulin monoglycylase TTLL3 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      A0A994J3Y4
      Conserved Domains (1) summary
      pfam03133
      Location:212 → 504
      TTL; Tubulin-tyrosine ligase family

    20. NM_001387463.1 → NP_001374392.1  tubulin monoglycylase TTLL3 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      H3BLT7
      Conserved Domains (1) summary
      pfam03133
      Location:180 → 472
      TTL; Tubulin-tyrosine ligase family

    21. NM_001387464.1 → NP_001374393.1  tubulin monoglycylase TTLL3 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      H3BLT7
      Conserved Domains (1) summary
      cl17255
      Location:223 → 459
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    22. NM_001387465.1 → NP_001374394.1  tubulin monoglycylase TTLL3 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      H3BLT7
      Conserved Domains (1) summary
      cl17255
      Location:223 → 459
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    23. NM_001387466.1 → NP_001374395.1  tubulin monoglycylase TTLL3 isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      Conserved Domains (1) summary
      pfam03133
      Location:172 → 384
      TTL; Tubulin-tyrosine ligase family

    24. NM_001387467.1 → NP_001374396.1  tubulin monoglycylase TTLL3 isoform 20

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382
      UniProtKB/TrEMBL
      B2RCJ2
      Related
      ENSP00000403874.1, ENST00000430793.1
      Conserved Domains (1) summary
      pfam03133
      Location:1 → 293
      TTL; Tubulin-tyrosine ligase family

    RNA

    1. NR_037162.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' terminal exons, and includes alternate internal exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of multiple upstream ORFs that are predicted to inhibit the translation of the longest ORF; upstream ORF translation would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA742169, AC018809, AC022382, BC028169

    2. NR_170661.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382

    3. NR_170662.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382

    4. NR_170663.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382

    5. NR_170664.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382

    6. NR_170665.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC018809, AC022382

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      9809727..9836365
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      9801679..9828366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_015644.3: Suppressed sequence

      Description
      NM_015644.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4R7.2 GenPept UniProtKB/Swiss-Prot:Q9Y4R7

    Gene LinkOut

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

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