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

Gene ID: 83894, updated on 25-Jan-2022

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, Nov 2021]
Expression
Restricted expression toward testis (RPKM 35.8) See more
Orthologs
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Genomic context

See TTC29 in Genome Data Viewer
Location:
4q31.22
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (146706617..146945882, complement)
105.20201022 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 POU class 4 homeobox 2 Neighboring gene uncharacterized LOC105377474 Neighboring gene uncharacterized LOC105377473 Neighboring gene uncharacterized LOC105377475 Neighboring gene uncharacterized LOC100996262

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?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
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
 
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

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_001300761.4NP_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/Swiss-Prot
    Q8NA56
    UniProtKB/TrEMBL
    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/Swiss-Prot
    Q8NA56
    UniProtKB/TrEMBL
    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
    Q8NA56
    UniProtKB/TrEMBL
    A0A140VK62, Q8TC83
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    146706617..146945882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714336.1XP_006714399.1  tetratricopeptide repeat protein 29 isoform X3

    Conserved Domains (2) summary
    sd00006
    Location:300328
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:336408
    TPR_12; Tetratricopeptide repeat
  2. XM_005263270.1XP_005263327.1  tetratricopeptide repeat protein 29 isoform X2

    Conserved Domains (2) summary
    sd00006
    Location:300328
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:336408
    TPR_12; Tetratricopeptide repeat
  3. XM_006714335.1XP_006714398.1  tetratricopeptide repeat protein 29 isoform X1

    Conserved Domains (2) summary
    sd00006
    Location:300328
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:336408
    TPR_12; Tetratricopeptide repeat
  4. XM_024454241.1XP_024310009.1  tetratricopeptide repeat protein 29 isoform X5

    Conserved Domains (2) summary
    sd00006
    Location:212240
    TPR; TPR repeat [structural motif]
    cl26000
    Location:136332
    YciM; Lipopolysaccharide biosynthesis regulator YciM, contains six TPR domains and a predicted metal-binding C-terminal domain [Cell wall/membrane/envelope biogenesis]
  5. XM_006714339.2XP_006714402.1  tetratricopeptide repeat protein 29 isoform X4

    Conserved Domains (2) summary
    sd00006
    Location:238266
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:274346
    TPR_12; Tetratricopeptide repeat
  6. XM_011532310.2XP_011530612.1  tetratricopeptide repeat protein 29 isoform X6

    Conserved Domains (2) summary
    sd00006
    Location:208252
    TPR; TPR repeat [structural motif]
    cl40670
    Location:261327
    PCRF; PCRF domain

RNA

  1. XR_938778.1 RNA Sequence

  2. XR_938777.1 RNA Sequence

  3. XR_427552.1 RNA Sequence

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