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

Gene ID: 26140, updated on 30-Mar-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 and flagellated sperm motility. Predicted to be located in axoneme; microtubule cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9809727..9836365)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (9801679..9828366)
105.20220307 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
  • 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 ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cilium movement 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 
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
  
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
    H0Y5E3
    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
    A0A994J3Y4
    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
    H0Y5E3
    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
    A0A994J3Y4
    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
    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_2023_10

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

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