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

Gene ID: 26140, updated on 10-Oct-2024

Summary

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
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Genomic context

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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough ARPC4-TTLL3

Readthrough gene: ARPC4-TTLL3, Included gene: ARPC4

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

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_001025930.5NP_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:356648
    TTL; Tubulin-tyrosine ligase family
  2. NM_001366051.2NP_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:213505
    TTL; Tubulin-tyrosine ligase family
  3. NM_001387446.1NP_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:256548
    TTL; Tubulin-tyrosine ligase family
  4. NM_001387447.1NP_001374376.1  tubulin monoglycylase TTLL3 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    Conserved Domains (1) summary
    cl17255
    Location:256492
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  5. NM_001387448.1NP_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:213505
    TTL; Tubulin-tyrosine ligase family
  6. NM_001387449.1NP_001374378.1  tubulin monoglycylase TTLL3 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0AAQ5BIG3
    Conserved Domains (1) summary
    pfam03133
    Location:213505
    TTL; Tubulin-tyrosine ligase family
  7. NM_001387450.1NP_001374379.1  tubulin monoglycylase TTLL3 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0A994J3Y4
    Conserved Domains (1) summary
    pfam03133
    Location:271563
    TTL; Tubulin-tyrosine ligase family
  8. NM_001387451.1NP_001374380.1  tubulin monoglycylase TTLL3 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0AAQ5BIG3
    Conserved Domains (1) summary
    pfam03133
    Location:223515
    TTL; Tubulin-tyrosine ligase family
  9. NM_001387452.1NP_001374381.1  tubulin monoglycylase TTLL3 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    Conserved Domains (1) summary
    pfam03133
    Location:180472
    TTL; Tubulin-tyrosine ligase family
  10. NM_001387453.1NP_001374382.1  tubulin monoglycylase TTLL3 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0AAQ5BIG3
    Conserved Domains (1) summary
    pfam03133
    Location:180472
    TTL; Tubulin-tyrosine ligase family
  11. NM_001387454.1NP_001374383.1  tubulin monoglycylase TTLL3 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0A994J3Y4
    Conserved Domains (1) summary
    pfam03133
    Location:256548
    TTL; Tubulin-tyrosine ligase family
  12. NM_001387455.1NP_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:256548
    TTL; Tubulin-tyrosine ligase family
  13. NM_001387456.1NP_001374385.1  tubulin monoglycylase TTLL3 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0A994J3Y4
    Conserved Domains (1) summary
    pfam03133
    Location:256548
    TTL; Tubulin-tyrosine ligase family
  14. NM_001387457.1NP_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:256492
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  15. NM_001387458.1NP_001374387.1  tubulin monoglycylase TTLL3 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0AAQ5BIG3
    Conserved Domains (1) summary
    pfam03133
    Location:180472
    TTL; Tubulin-tyrosine ligase family
  16. NM_001387459.1NP_001374388.1  tubulin monoglycylase TTLL3 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0A994J3Y4
    Conserved Domains (1) summary
    pfam03133
    Location:223515
    TTL; Tubulin-tyrosine ligase family
  17. NM_001387460.1NP_001374389.1  tubulin monoglycylase TTLL3 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0A994J3Y4
    Conserved Domains (1) summary
    pfam03133
    Location:223515
    TTL; Tubulin-tyrosine ligase family
  18. NM_001387461.1NP_001374390.1  tubulin monoglycylase TTLL3 isoform 15

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0A994J3Y4
    Conserved Domains (1) summary
    pfam03133
    Location:213505
    TTL; Tubulin-tyrosine ligase family
  19. NM_001387462.1NP_001374391.1  tubulin monoglycylase TTLL3 isoform 16

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    A0A994J3Y4
    Conserved Domains (1) summary
    pfam03133
    Location:212504
    TTL; Tubulin-tyrosine ligase family
  20. NM_001387463.1NP_001374392.1  tubulin monoglycylase TTLL3 isoform 17

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    H3BLT7
    Conserved Domains (1) summary
    pfam03133
    Location:180472
    TTL; Tubulin-tyrosine ligase family
  21. NM_001387464.1NP_001374393.1  tubulin monoglycylase TTLL3 isoform 18

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    H3BLT7
    Conserved Domains (1) summary
    cl17255
    Location:223459
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  22. NM_001387465.1NP_001374394.1  tubulin monoglycylase TTLL3 isoform 18

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    UniProtKB/TrEMBL
    H3BLT7
    Conserved Domains (1) summary
    cl17255
    Location:223459
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
  23. NM_001387466.1NP_001374395.1  tubulin monoglycylase TTLL3 isoform 19

    Status: VALIDATED

    Source sequence(s)
    AC018809, AC022382
    Conserved Domains (1) summary
    pfam03133
    Location:172384
    TTL; Tubulin-tyrosine ligase family
  24. NM_001387467.1NP_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:1293
    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.