U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TTLL8 tubulin tyrosine ligase like 8 [ Homo sapiens (human) ]

Gene ID: 164714, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
TTLL8provided by HGNC
Official Full Name
tubulin tyrosine ligase like 8provided by HGNC
Primary source
HGNC:HGNC:34000
See related
Ensembl:ENSG00000138892 MIM:619193; AllianceGenome:HGNC:34000
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
Summary
Predicted to enable protein-glycine ligase activity, initiating. Predicted to be involved in cilium 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
Restricted expression toward testis (RPKM 2.3) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See TTLL8 in Genome Data Viewer
Location:
22q13.33
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50018575..50058298, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50523480..50564968, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50457004..50496727, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50358856-50359356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13944 Neighboring gene microRNA 6821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50421116-50422037 Neighboring gene Pim-3 proto-oncogene, serine/threonine kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50437830-50438788 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50438789-50439748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50439749-50440706 Neighboring gene interleukin 17 receptor E like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50451079-50451679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50510246-50511128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50511129-50512010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50512330-50512836 Neighboring gene modulator of VRAC current 1 Neighboring gene Sharpr-MPRA regulatory region 9327 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:50523503-50524127 Neighboring gene Mov10 like RNA helicase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19297 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50578307-50578491

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. Janke C, et al. Science, 2005 Jun 17. PMID 15890843
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

Go to the top of the page Help

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-glycine ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
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 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
  
involved_in protein polyglycylation ISS
Inferred from Sequence or Structural Similarity
more info
  
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

Go to the top of the page Help
Preferred Names
protein monoglycylase TTLL8
Names
tubulin tyrosine ligase-like family, member 8
tubulin--tyrosine ligase-like protein 8

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001350317.3 → NP_001337246.1  protein monoglycylase TTLL8

    Status: VALIDATED

    Source sequence(s)
    AL022327
    Consensus CDS
    CCDS93183.1
    UniProtKB/Swiss-Prot
    A6PVC2, B5MDV0
    UniProtKB/TrEMBL
    A0A1C7CYW9
    Related
    ENSP00000392252.2, ENST00000433387.2
    Conserved Domains (1) summary
    pfam03133
    Location:348 → 574
    TTL; Tubulin-tyrosine ligase family

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    50018575..50058298 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452173.1 → XP_024307941.1  protein monoglycylase TTLL8 isoform X2

    UniProtKB/Swiss-Prot
    A6PVC2, B5MDV0
    Conserved Domains (1) summary
    pfam03133
    Location:347 → 573
    TTL; Tubulin-tyrosine ligase family

  2. XM_024452172.1 → XP_024307940.1  protein monoglycylase TTLL8 isoform X1

    UniProtKB/Swiss-Prot
    A6PVC2, B5MDV0
    Conserved Domains (1) summary
    pfam03133
    Location:348 → 574
    TTL; Tubulin-tyrosine ligase family

  3. XM_024452174.1 → XP_024307942.1  protein monoglycylase TTLL8 isoform X3

    Conserved Domains (1) summary
    pfam03133
    Location:217 → 443
    TTL; Tubulin-tyrosine ligase family

  4. XM_024452177.1 → XP_024307945.1  protein monoglycylase TTLL8 isoform X4

    Conserved Domains (1) summary
    pfam03133
    Location:137 → 363
    TTL; Tubulin-tyrosine ligase family

  5. XM_024452175.1 → XP_024307943.1  protein monoglycylase TTLL8 isoform X4

    Conserved Domains (1) summary
    pfam03133
    Location:137 → 363
    TTL; Tubulin-tyrosine ligase family

  6. XM_024452176.1 → XP_024307944.1  protein monoglycylase TTLL8 isoform X4

    Conserved Domains (1) summary
    pfam03133
    Location:137 → 363
    TTL; Tubulin-tyrosine ligase family

  7. XM_047441179.1 → XP_047297135.1  protein monoglycylase TTLL8 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    50523480..50564968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325212.1 → XP_054181187.1  protein monoglycylase TTLL8 isoform X2

  2. XM_054325211.1 → XP_054181186.1  protein monoglycylase TTLL8 isoform X1

  3. XM_054325213.1 → XP_054181188.1  protein monoglycylase TTLL8 isoform X3

  4. XM_054325216.1 → XP_054181191.1  protein monoglycylase TTLL8 isoform X4

  5. XM_054325214.1 → XP_054181189.1  protein monoglycylase TTLL8 isoform X4

  6. XM_054325215.1 → XP_054181190.1  protein monoglycylase TTLL8 isoform X4

  7. XM_054325217.1 → XP_054181192.1  protein monoglycylase TTLL8 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001080447.1: Suppressed sequence

    Description
    NM_001080447.1: 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
A6PVC2.4 GenPept UniProtKB/Swiss-Prot:A6PVC2

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials