TXNDC15
entrez
79770
canonical
uniprot
Q96J42
canonical
ensembl
ENSG00000113621
resolver
ensp
ENSP00000351157
resolver
genesymbol
TXNDC15
resolver
genesymbol_syn
C5orf14
resolver
hgnc
HGNC:20652
resolver
uniprot
D3DQA9
resolver
uniprot
Q96MT2
resolver
uniprot
Q9H639
resolver
uniprot_entry
TXD15_HUMAN
resolver
uniprot_sec
D3DQA9
resolver
uniprot_sec
Q96MT2
resolver
uniprot_sec
Q9H639
resolver
amino_acid_sequence
MVPAAGRRPPRVMRLLGWWQVLLWVLGLPVRGVEVAEESGRLWSEEQPAHPLQVGAVYLGEEELLHDPMGQDRAAEEANAVLGLDTQGDHMVMLSVIPGEAEDKVSSEPSGVTCGAGGAEDSRCNVRESLFSLDGAGAHFPDREEEYYTEPEVAESDAAPTEDSNNTESLKSPKVNCEERNITGLENFTLKILNMSQDLMDFLNPNGSDCTLVLFYTPWCRFSASLAPHFNSLPRAFPALHFLALDASQHSSLSTRFGTVAVPNILLFQGAKPMARFNHTDRTLETLKIFIFNQTGIEAKKNVVVTQADQIGPLPSTLIKSVDWLLVFSLFFLISFIMYATIRTESIRWLIPGQEQEHVE
uniprot
proteins
disease_involvement
DISEASE: Meckel syndrome 14 (MKS14) [MIM:619879]: A form of Meckel syndrome, an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Death occurs in the prenatal or perinatal period. {ECO:0000269|PubMed:27894351, ECO:0000269|PubMed:30851085, ECO:0000269|PubMed:31411728}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Involved in ciliogenesis (PubMed:27894351). {ECO:0000250|UniProtKB:Q6P6J9, ECO:0000269|PubMed:27894351}.
uniprot
proteins
mass_dalton
39885
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
27894351
uniprot
proteins
pubmed
30851085
uniprot
proteins
pubmed
31411728
uniprot
proteins
sequence_length
360
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q6P6J9}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 322..342; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins