TTC12
entrez
54970
canonical
uniprot
Q9H892
canonical
ensembl
ENSG00000149292
resolver
ensp
ENSP00000419652
resolver
ensp
ENSP00000433757
resolver
ensp
ENSP00000550170
resolver
ensp
ENSP00000615082
resolver
ensp
ENSP00000615083
resolver
enst
ENST00000483239
resolver
genesymbol
TTC12
resolver
hgnc
HGNC:23700
resolver
uniprot
A8K8G6
resolver
uniprot
J3KR69
resolver
uniprot
Q53G14
resolver
uniprot
Q8N5H9
resolver
uniprot
Q9NWY3
resolver
uniprot_entry
A8K8G6_HUMAN
resolver
uniprot_entry
J3KR69_HUMAN
resolver
uniprot_entry
Q53G14_HUMAN
resolver
uniprot_entry
TTC12_HUMAN
resolver
uniprot_sec
Q8N5H9
resolver
uniprot_sec
Q9NWY3
resolver
amino_acid_sequence
MDADKEKDLQKFLKNVDEISNLIQEMNSDDPVVQQKAVLETEKRLLLMEEDQEEDECRTTLNKTMISPPQTAMKSAEEINSEAFLASVEKDAKERAKRRRENKVLADALKEKGNEAFAEGNYETAILRYSEGLEKLKDMKVLYTNRAQAYMKLEDYEKALVDCEWALKCDEKCTKAYFHMGKANLALKNYSVSRECYKKILEINPKLQTQVKGYLNQVDLQEKADLQEKEAHELLDSGKNTAVTTKNLLETLSKPDQIPLFYAGGIEILTEMINECTEQTLFRMHNGFSIISDNEVIRRCFSTAGNDAVEEMVCVSVLKLWQAVCSRNEENQRVLVIHHDRARLLAALLSSKVLAIRQQSFALLLHLAQTESGRSLIINHLDLTRLLEALVSFLDFSDKEANTAMGLFTDLALEERFQVWFQANLPGVLPALTGVLKTDPKVSSSSALCQCIAIMGNLSAEPTTRRHMAACEEFGDGCLSLLARCEEDVDLFREVIYTLLGLMMNLCLQAPFVSEVWAVEVSRRCLSLLNSQDGGILTRAAGVLSRTLSSSLKIVEEALRAGVVKKMMKFLKTGGETASRYAIKILAICTNSYHEAREEVIRLDKKLSVMMKLLSSEDEVLVGNAALCLGNCMEVPNVASSLLKTDLLQVLLKLAGSDTQKTAVQVNAGIALGKLCTAEPRFAAQLRKLHGLEILNSTMKYISDS
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 45 (CILD45) [MIM:618801]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm. {ECO:0000269|PubMed:31978331}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cytoplasmic protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both respiratory cells and sperm flagella. {ECO:0000269|PubMed:31978331}.
uniprot
proteins
mass_dalton
78756
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
31978331
uniprot
proteins
sequence_length
705
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:31978331}.
uniprot
proteins