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TTC29 tetratricopeptide repeat domain 29 [ Homo sapiens (human) ]

Gene ID: 83894, updated on 11-Apr-2024

Summary

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Official Symbol
TTC29provided by HGNC
Official Full Name
tetratricopeptide repeat domain 29provided by HGNC
Primary source
HGNC:HGNC:29936
See related
Ensembl:ENSG00000137473 MIM:618735; AllianceGenome:HGNC:29936
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
SPGF42; TBPP2A; NYD-SP14
Summary
Involved in cilium movement and cilium organization. Located in sperm flagellum. Implicated in spermatogenic failure 42. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 35.8) See more
Orthologs
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Genomic context

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Location:
4q31.22
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (146706617..146945864, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (150030294..150269471, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (147627769..147867016, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 44, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147554253-147554753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:147558399-147558980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:147558981-147559562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147559563-147560143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147560144-147560725 Neighboring gene POU class 4 homeobox 2 Neighboring gene uncharacterized LOC105377474 Neighboring gene uncharacterized LOC105377473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15740 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:147878312-147879511 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:147880304-147881503 Neighboring gene uncharacterized LOC105377475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147911753-147912419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:147912420-147913085 Neighboring gene uncharacterized LOC100996262

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
  • 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. Regulation of rat tetratricopeptide repeat domain 29 gene expression by follicle-stimulating hormone. Ohta M, et al. Biosci Biotechnol Biochem, 2012. PMID 22878202
  2. Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice. Liu C, et al. Am J Hum Genet, 2019 Dec 5. PMID 31735294, Free PMC Article
  3. Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility. Lorès P, et al. Am J Hum Genet, 2019 Dec 5. PMID 31735292, Free PMC Article
  4. A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly. Chouraki V, et al. Mol Psychiatry, 2014 Dec. PMID 24535457, Free PMC Article
  5. Human gingiva transcriptome during wound healing. Wang Y, et al. J Clin Periodontol, 2017 Apr. PMID 28005267

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
    Title: Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
  2. Mutations in TTC29 results in Asthenozoospermia and Male Infertility.
    Title: Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
  3. TTC29 expression is significantly upregulated in human masticatory mucosa during wound healing
    Title: Human gingiva transcriptome during wound healing.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spermatogenic failure 42
MedGen: C5231488 OMIM: 618745 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium movement IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cilium movement IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium organization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in sperm flagellum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm flagellum IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
tetratricopeptide repeat protein 29
Names
TPR repeat protein 29
testicular secretory protein Li 62
testis development protein NYD-SP14

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_001300761.4 → NP_001287690.1  tetratricopeptide repeat protein 29 isoform 1

    See identical proteins and their annotated locations for NP_001287690.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest isoform (1).
    Source sequence(s)
    AC093887, AF345910, AK093145, AK314066, BG208860
    Consensus CDS
    CCDS75200.1
    UniProtKB/TrEMBL
    B4DX45, G5E9Z5
    Related
    ENSP00000423505.1, ENST00000513335.5
    Conserved Domains (2) summary
    sd00006
    Location:300 → 328
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:336 → 408
    TPR_12; Tetratricopeptide repeat

  2. NM_001317806.3 → NP_001304735.1  tetratricopeptide repeat protein 29 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR, uses a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (3) has a shorter N-terminus and is lacking a single internal amino acid, compared to isoform 1.
    Source sequence(s)
    AC093887, AF345910, AK093145, AK314066, BG208860
    Consensus CDS
    CCDS82965.1
    UniProtKB/TrEMBL
    B4DX45, E7EQ14
    Related
    ENSP00000425778.1, ENST00000504425.5
    Conserved Domains (2) summary
    sd00006
    Location:274 → 302
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:310 → 382
    TPR_12; Tetratricopeptide repeat

  3. NM_031956.4 → NP_114162.2  tetratricopeptide repeat protein 29 isoform 2

    See identical proteins and their annotated locations for NP_114162.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC093887, AF345910, AK093145, BC024193, BG208860, DB034049
    Consensus CDS
    CCDS47141.1
    UniProtKB/Swiss-Prot
    A4GU95, Q8NA56, Q9BXB6
    UniProtKB/TrEMBL
    A0A140VK62, B4DX45
    Related
    ENSP00000316740.4, ENST00000325106.9
    Conserved Domains (2) summary
    sd00006
    Location:274 → 302
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:310 → 382
    TPR_12; Tetratricopeptide repeat

RNA

  1. NR_133922.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate internal exon and also includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093887, AK225725, BG208860, DB034049
    Related
    ENST00000508306.5

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    146706617..146945864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714339.3 → XP_006714402.1  tetratricopeptide repeat protein 29 isoform X7

    UniProtKB/TrEMBL
    B4DX45
    Conserved Domains (2) summary
    sd00006
    Location:238 → 266
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:274 → 346
    TPR_12; Tetratricopeptide repeat

  2. XM_006714336.2 → XP_006714399.1  tetratricopeptide repeat protein 29 isoform X4

    UniProtKB/TrEMBL
    B4DX45
    Conserved Domains (2) summary
    sd00006
    Location:300 → 328
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:336 → 408
    TPR_12; Tetratricopeptide repeat

  3. XM_005263270.2 → XP_005263327.1  tetratricopeptide repeat protein 29 isoform X3

    UniProtKB/TrEMBL
    B4DX45
    Conserved Domains (2) summary
    sd00006
    Location:300 → 328
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:336 → 408
    TPR_12; Tetratricopeptide repeat

  4. XM_006714335.2 → XP_006714398.1  tetratricopeptide repeat protein 29 isoform X2

    UniProtKB/TrEMBL
    B4DX45
    Conserved Domains (2) summary
    sd00006
    Location:300 → 328
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:336 → 408
    TPR_12; Tetratricopeptide repeat

  5. XM_047416240.1 → XP_047272196.1  tetratricopeptide repeat protein 29 isoform X1

    UniProtKB/TrEMBL
    G5E9Z5

  6. XM_047416242.1 → XP_047272198.1  tetratricopeptide repeat protein 29 isoform X6

  7. XM_047416241.1 → XP_047272197.1  tetratricopeptide repeat protein 29 isoform X5

  8. XM_047416243.1 → XP_047272199.1  tetratricopeptide repeat protein 29 isoform X8

  9. XM_011532310.3 → XP_011530612.1  tetratricopeptide repeat protein 29 isoform X9

    UniProtKB/TrEMBL
    Q8TC83
    Conserved Domains (2) summary
    sd00006
    Location:208 → 252
    TPR; TPR repeat [structural motif]
    cl40670
    Location:261 → 327
    PCRF; PCRF domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    150030294..150269471 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350965.1 → XP_054206940.1  tetratricopeptide repeat protein 29 isoform X7

  2. XM_054350962.1 → XP_054206937.1  tetratricopeptide repeat protein 29 isoform X4

  3. XM_054350961.1 → XP_054206936.1  tetratricopeptide repeat protein 29 isoform X3

  4. XM_054350960.1 → XP_054206935.1  tetratricopeptide repeat protein 29 isoform X2

  5. XM_054350959.1 → XP_054206934.1  tetratricopeptide repeat protein 29 isoform X1

    UniProtKB/TrEMBL
    G5E9Z5

  6. XM_054350964.1 → XP_054206939.1  tetratricopeptide repeat protein 29 isoform X6

  7. XM_054350963.1 → XP_054206938.1  tetratricopeptide repeat protein 29 isoform X5

  8. XM_054350966.1 → XP_054206941.1  tetratricopeptide repeat protein 29 isoform X8

  9. XM_054350967.1 → XP_054206942.1  tetratricopeptide repeat protein 29 isoform X9

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NA56.2 GenPept UniProtKB/Swiss-Prot:Q8NA56

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