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

    Gene ID: 83894, updated on 27-Nov-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, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 35.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC29 in Genome Data Viewer
    Location:
    4q31.22
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (146706617..146945864, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (150030294..150269471, complement)
    RS_2024_09 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. Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function. Dacheux D, et al. Elife, 2023 Nov 7. PMID 37934199, Free PMC Article
    5. 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

    See all (18) 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
    		Compare labs

    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)

    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_2024_08

    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

    Gene LinkOut

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

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