Q8NA56 · TTC29_HUMAN

  • Protein
    Tetratricopeptide repeat protein 29
  • Gene
    TTC29
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Axonemal protein which is implicated in axonemal and/or peri-axonemal structure assembly and regulates flagellum assembly and beating and therefore sperm motility.

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentcytoplasm
Cellular Componentcytoskeleton
Cellular Componentsperm flagellum
Biological Processcilium movement
Biological Processcilium organization

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Tetratricopeptide repeat protein 29
  • Short names
    TPR repeat protein 29
  • Alternative names
    • Protein TBPP2A
    • Testis development protein NYD-SP14

Gene names

    • Name
      TTC29

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q8NA56
  • Secondary accessions
    • A4GU95
    • Q9BXB6

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Spermatogenic failure 42 (SPGF42)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive infertility disorder characterized by almost immotile spermatozoa due to multiple morphologic abnormalities of the flagella, including short, absent, coiled, and bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece.
  • See also
    MIM:618745
Natural variants in SPGF42
Variant IDPosition(s)ChangeDescription
VAR_083646250-475missingin SPGF42
VAR_083647369-475missingin SPGF42; loss of protein expression

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_03317994in dbSNP:rs35123039
Natural variantVAR_033180140in dbSNP:rs17610219
Natural variantVAR_083646250-475in SPGF42
Natural variantVAR_033181276in dbSNP:rs10013280
Natural variantVAR_083647369-475in SPGF42; loss of protein expression

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 709 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain.

TypeIDPosition(s)Description
ChainPRO_00002944351-475Tetratricopeptide repeat protein 29

Proteomic databases

PTM databases

Expression

Tissue specificity

Expressed in spermatozoa (at protein level).

Gene expression databases

Organism-specific databases

Interaction

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for repeat, region.

TypeIDPosition(s)Description
Repeat92-131TPR 1
Repeat136-173TPR 2
Repeat182-215TPR 3
Repeat234-267TPR 4
Repeat274-307TPR 5
Repeat314-347TPR 6
Repeat354-387TPR 7
Region437-475Disordered

Domain

The TPR repeats are required for axonemal localization and flagellar beating.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

Q8NA56-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    475
  • Mass (Da)
    55,082
  • Last updated
    2007-07-10 v2
  • Checksum
    09BF33E42330C53A
MTTLPPLPMTRPKLTALARQKLPCSSRKIPRSQLIKEKDDIDHYLEVNFKGLSKEEVAAYRNSYKKNICVDMLRDGYHKSFTELFALMERWDALREAARVRSLFWLQKPLEEQPDKLDYLYHYLTRAEDAERKESFEDVHNNLYALACYFNNSEDKWVRNHFYERCFKIAQLIKIDCGKKEAEAHMHMGLLYEEDGQLLEAAEHYEAFHQLTQGRIWKDETGRSLNLLACESLLRTYRLLSDKMLENKEYKQAIKILIKASEIAKEGSDKKMEAEASYYLGLAHLAAEEYETALTVLDTYCKISTDLDDDLSLGRGYEAIAKVLQSQGEMTEAIKYLKKFVKIARNNFQSLDLVRASTMLGDIYNEKGYYNKASECFQQAFDTTVELMSMPLMDETKVHYGIAKAHQMMLTVNNYIESADLTSLNYLLSWKESRGNIEPDPVTEEFRGSTVEAVSQNSERLEELSRFPGDQKNET

Q8NA56-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 1-1: M → MIPMFTVTLEDSGTLWKSLHSSSESE

Computationally mapped potential isoform sequences

There are 5 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
E7EQZ6E7EQZ6_HUMANTTC29363
E7EQ14E7EQ14_HUMANTTC29474
D6RJF6D6RJF6_HUMANTTC2926
D6R945D6R945_HUMANTTC2993
G5E9Z5G5E9Z5_HUMANTTC29501

Sequence caution

The sequence AAK29064.1 differs from that shown. Reason: Frameshift

Features

Showing features for alternative sequence, sequence conflict.

TypeIDPosition(s)Description
Alternative sequenceVSP_0266381in isoform 2
Sequence conflict239in Ref. 3; BAC04072

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AF345910
EMBL· GenBank· DDBJ
AAK29064.1
EMBL· GenBank· DDBJ
mRNA Frameshift
EF432564
EMBL· GenBank· DDBJ
ABO31099.1
EMBL· GenBank· DDBJ
mRNA
AK093145
EMBL· GenBank· DDBJ
BAC04072.1
EMBL· GenBank· DDBJ
mRNA
AC092435
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AC097497
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AC093887
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.

Genome annotation databases

Similar Proteins

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
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