TTC29
entrez
83894
canonical
uniprot
Q8NA56
canonical
ensembl
ENSG00000137473
resolver
ensp
ENSP00000316740
resolver
ensp
ENSP00000423505
resolver
ensp
ENSP00000425778
resolver
enst
ENST00000504425
resolver
enst
ENST00000513335
resolver
genesymbol
NYD-SP14
resolver
genesymbol
TTC29
resolver
hgnc
HGNC:29936
resolver
uniprot
A0A140VK62
resolver
uniprot
A4GU95
resolver
uniprot
E7EQ14
resolver
uniprot
G5E9Z5
resolver
uniprot
Q8TC83
resolver
uniprot
Q9BXB6
resolver
uniprot_entry
A0A140VK62_HUMAN
resolver
uniprot_entry
E7EQ14_HUMAN
resolver
uniprot_entry
G5E9Z5_HUMAN
resolver
uniprot_entry
Q8TC83_HUMAN
resolver
uniprot_entry
TTC29_HUMAN
resolver
uniprot_sec
A4GU95
resolver
uniprot_sec
Q9BXB6
resolver
amino_acid_sequence
MTTLPPLPMTRPKLTALARQKLPCSSRKIPRSQLIKEKDDIDHYLEVNFKGLSKEEVAAYRNSYKKNICVDMLRDGYHKSFTELFALMERWDALREAARVRSLFWLQKPLEEQPDKLDYLYHYLTRAEDAERKESFEDVHNNLYALACYFNNSEDKWVRNHFYERCFKIAQLIKIDCGKKEAEAHMHMGLLYEEDGQLLEAAEHYEAFHQLTQGRIWKDETGRSLNLLACESLLRTYRLLSDKMLENKEYKQAIKILIKASEIAKEGSDKKMEAEASYYLGLAHLAAEEYETALTVLDTYCKISTDLDDDLSLGRGYEAIAKVLQSQGEMTEAIKYLKKFVKIARNNFQSLDLVRASTMLGDIYNEKGYYNKASECFQQAFDTTVELMSMPLMDETKVHYGIAKAHQMMLTVNNYIESADLTSLNYLLSWKESRGNIEPDPVTEEFRGSTVEAVSQNSERLEELSRFPGDQKNET
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 42 (SPGF42) [MIM:618745]: 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. {ECO:0000269|PubMed:31735292, ECO:0000269|PubMed:31735294}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
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. {ECO:0000269|PubMed:31735292, ECO:0000269|PubMed:31735294}.
uniprot
proteins
mass_dalton
55082
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
31735292
uniprot
proteins
pubmed
31735294
uniprot
proteins
pubmed
37934199
uniprot
proteins
sequence_length
475
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:31735292, ECO:0000269|PubMed:31735294, ECO:0000269|PubMed:37934199}.
uniprot
proteins