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

    Gene ID: 83894, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 35.8) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (12 hits/1218 screens)

    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

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cilium movement  
    involved_in cilium movement PubMed 
    involved_in cilium movement PubMed 
    involved_in cilium organization PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm  
    located_in cytoskeleton  
    is_active_in sperm flagellum  
    located_in sperm flagellum PubMed 
    located_in sperm flagellum PubMed 

    General protein information

    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)

    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_001300761.4NP_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:300328
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:336408
      TPR_12; Tetratricopeptide repeat
    2. NM_001317806.3NP_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:274302
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:310382
      TPR_12; Tetratricopeptide repeat
    3. NM_031956.4NP_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:274302
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:310382
      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_006714339.3XP_006714402.1  tetratricopeptide repeat protein 29 isoform X7

      UniProtKB/TrEMBL
      B4DX45
      Conserved Domains (2) summary
      sd00006
      Location:238266
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:274346
      TPR_12; Tetratricopeptide repeat
    2. XM_006714336.2XP_006714399.1  tetratricopeptide repeat protein 29 isoform X4

      UniProtKB/TrEMBL
      B4DX45
      Conserved Domains (2) summary
      sd00006
      Location:300328
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:336408
      TPR_12; Tetratricopeptide repeat
    3. XM_005263270.2XP_005263327.1  tetratricopeptide repeat protein 29 isoform X3

      UniProtKB/TrEMBL
      B4DX45
      Conserved Domains (2) summary
      sd00006
      Location:300328
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:336408
      TPR_12; Tetratricopeptide repeat
    4. XM_006714335.2XP_006714398.1  tetratricopeptide repeat protein 29 isoform X2

      UniProtKB/TrEMBL
      B4DX45
      Conserved Domains (2) summary
      sd00006
      Location:300328
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:336408
      TPR_12; Tetratricopeptide repeat
    5. XM_047416240.1XP_047272196.1  tetratricopeptide repeat protein 29 isoform X1

      UniProtKB/TrEMBL
      B4DX45, G5E9Z5
    6. XM_047416242.1XP_047272198.1  tetratricopeptide repeat protein 29 isoform X6

      UniProtKB/TrEMBL
      B4DX45
    7. XM_047416241.1XP_047272197.1  tetratricopeptide repeat protein 29 isoform X5

      UniProtKB/TrEMBL
      B4DX45
    8. XM_047416243.1XP_047272199.1  tetratricopeptide repeat protein 29 isoform X8

      UniProtKB/TrEMBL
      E7EQZ6
    9. XM_011532310.3XP_011530612.1  tetratricopeptide repeat protein 29 isoform X9

      UniProtKB/TrEMBL
      Q8TC83
      Conserved Domains (2) summary
      sd00006
      Location:208252
      TPR; TPR repeat [structural motif]
      cl40670
      Location:261327
      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_054350965.1XP_054206940.1  tetratricopeptide repeat protein 29 isoform X7

      UniProtKB/TrEMBL
      B4DX45
    2. XM_054350962.1XP_054206937.1  tetratricopeptide repeat protein 29 isoform X4

      UniProtKB/TrEMBL
      B4DX45
    3. XM_054350961.1XP_054206936.1  tetratricopeptide repeat protein 29 isoform X3

      UniProtKB/TrEMBL
      B4DX45
    4. XM_054350960.1XP_054206935.1  tetratricopeptide repeat protein 29 isoform X2

      UniProtKB/TrEMBL
      B4DX45
    5. XM_054350959.1XP_054206934.1  tetratricopeptide repeat protein 29 isoform X1

      UniProtKB/TrEMBL
      B4DX45, G5E9Z5
    6. XM_054350964.1XP_054206939.1  tetratricopeptide repeat protein 29 isoform X6

      UniProtKB/TrEMBL
      B4DX45
    7. XM_054350963.1XP_054206938.1  tetratricopeptide repeat protein 29 isoform X5

      UniProtKB/TrEMBL
      B4DX45
    8. XM_054350966.1XP_054206941.1  tetratricopeptide repeat protein 29 isoform X8

      UniProtKB/TrEMBL
      E7EQZ6
    9. XM_054350967.1XP_054206942.1  tetratricopeptide repeat protein 29 isoform X9

      UniProtKB/TrEMBL
      Q8TC83
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