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

Gene ID: 54970, updated on 6-Nov-2022

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
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Genomic context

See TTC12 in Genome Data Viewer
Location:
11q23.2
Exon count:
27
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (113314583..113373297)
110 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 uncharacterized LOC124902814 Neighboring gene NCAM1 antisense RNA1 Neighboring gene Sharpr-MPRA regulatory region 12815 Neighboring gene ankyrin repeat and kinase domain containing 1

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

Homology

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
PubMed 
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
PubMed 
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
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_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/Swiss-Prot
    Q9H892
    UniProtKB/TrEMBL
    J3KR69
    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
    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
    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
    Q9NWY3
    UniProtKB/TrEMBL
    A8K8G6
    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
    Q9NWY3
    UniProtKB/TrEMBL
    A8K8G6
    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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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.