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

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

    Summary

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    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
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    Genomic context

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    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

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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. 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

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    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

    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 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

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    Preferred Names
    protein monoglycylase TTLL8
    Names
    tubulin tyrosine ligase-like family, member 8
    tubulin--tyrosine ligase-like protein 8

    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_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

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