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    TTC12 tetratricopeptide repeat domain 12 [ Homo sapiens (human) ]

    Gene ID: 54970, updated on 5-Mar-2024

    Summary

    Official Symbol
    TTC12provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 12provided by HGNC
    Primary source
    HGNC:HGNC:23700
    See related
    Ensembl:ENSG00000149292 MIM:610732; AllianceGenome:HGNC:23700
    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
    TPARM; CILD45
    Summary
    Involved in axonemal dynein complex assembly and sperm axoneme assembly. Located in centrosome and cytoplasm. Implicated in primary ciliary dyskinesia 45. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 10.6), thyroid (RPKM 3.1) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    11q23.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (113314583..113373297)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (113325023..113383787)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (113185305..113244019)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene neural cell adhesion molecule 1 Neighboring gene NCAM1 antisense RNA1 Neighboring gene TTC12 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3908 Neighboring gene Sharpr-MPRA regulatory region 9915 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:113202304-113203503 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:113214693-113215892 Neighboring gene Sharpr-MPRA regulatory region 12815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5539 Neighboring gene ankyrin repeat and kinase domain containing 1 Neighboring gene dopamine receptor D2 Neighboring gene microRNA 4301

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13859, FLJ20535

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axonemal dynein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    tetratricopeptide repeat protein 12
    Names
    TPR repeat protein 12
    tetratricopeptide repeat and armadillo repeat protein

    NCBI Reference Sequences (RefSeq)

    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_001318533.2NP_001305462.1  tetratricopeptide repeat protein 12 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP000880, BC011546, DA954030
      Consensus CDS
      CCDS81627.1
      UniProtKB/TrEMBL
      J3KR69, Q53G14
      Related
      ENSP00000419652.2, ENST00000483239.6
      Conserved Domains (7) summary
      cd00020
      Location:532637
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00006
      Location:106134
      TPR; TPR repeat [structural motif]
      cd15830
      Location:106164
      BamD; BamD lipoprotein, a component of the beta-barrel assembly machinery
      pfam00515
      Location:143168
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:106168
      TPR_11; TPR repeat
      pfam13424
      Location:138212
      TPR_12; Tetratricopeptide repeat
      sd00043
      Location:561597
      ARM; armadillo repeat [structural motif]
    2. NM_001352037.2NP_001338966.1  tetratricopeptide repeat protein 12 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP000880, AP002840
      UniProtKB/TrEMBL
      Q53G14
      Conserved Domains (3) summary
      sd00006
      Location:81109
      TPR; TPR repeat [structural motif]
      sd00043
      Location:530566
      ARM; armadillo repeat [structural motif]
      cl26005
      Location:25168
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
    3. NM_001378063.1NP_001364992.1  tetratricopeptide repeat protein 12 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AP000880, AP002840
      UniProtKB/TrEMBL
      Q53G14
      Conserved Domains (3) summary
      TIGR00990
      Location:25167
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:81109
      TPR; TPR repeat [structural motif]
      sd00043
      Location:556592
      ARM; armadillo repeat [structural motif]
    4. NM_001378064.1NP_001364993.1  tetratricopeptide repeat protein 12 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 2 and 9, encodes isoform 2.
      Source sequence(s)
      AP000880, AP002840
      Consensus CDS
      CCDS8360.2
      UniProtKB/Swiss-Prot
      Q8N5H9, Q9H892, Q9NWY3
      UniProtKB/TrEMBL
      A8K8G6, Q53G14
      Conserved Domains (3) summary
      TIGR00990
      Location:50193
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:106134
      TPR; TPR repeat [structural motif]
      sd00043
      Location:555591
      ARM; armadillo repeat [structural motif]
    5. NM_001378065.1NP_001364994.1  tetratricopeptide repeat protein 12 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 2 and 7, encodes isoform 2.
      Source sequence(s)
      AP000880, AP002840
      Consensus CDS
      CCDS8360.2
      UniProtKB/Swiss-Prot
      Q8N5H9, Q9H892, Q9NWY3
      UniProtKB/TrEMBL
      A8K8G6, Q53G14
      Conserved Domains (3) summary
      TIGR00990
      Location:50193
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:106134
      TPR; TPR repeat [structural motif]
      sd00043
      Location:555591
      ARM; armadillo repeat [structural motif]
    6. NM_017868.4NP_060338.3  tetratricopeptide repeat protein 12 isoform 2

      See identical proteins and their annotated locations for NP_060338.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2, 7, and 9 all encode the same isoform (2).
      Source sequence(s)
      AK023921, AK223117, DB110945
      Consensus CDS
      CCDS8360.2
      UniProtKB/Swiss-Prot
      Q8N5H9, Q9H892, Q9NWY3
      UniProtKB/TrEMBL
      A8K8G6, Q53G14
      Related
      ENSP00000433757.1, ENST00000529221.6
      Conserved Domains (3) summary
      TIGR00990
      Location:50193
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:106134
      TPR; TPR repeat [structural motif]
      sd00043
      Location:555591
      ARM; armadillo repeat [structural motif]

    RNA

    1. NR_147891.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000880, BC032355
      Related
      ENST00000494714.5
    2. NR_165392.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000880, AP002840
      Related
      ENST00000464224.5
    3. NR_165393.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000880, AP002840

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      113314583..113373297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      113325023..113383787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001352038.2: Suppressed sequence

      Description
      NM_001352038.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.