KREMEN1
entrez
83999
canonical
uniprot
Q96MU8
canonical
ensembl
ENSG00000183762
resolver
ensp
ENSP00000331242
resolver
ensp
ENSP00000383189
resolver
ensp
ENSP00000533453
resolver
ensp
ENSP00000533454
resolver
ensp
ENSP00000533455
resolver
ensp
ENSP00000613479
resolver
genesymbol
KREMEN1
resolver
genesymbol_syn
KREMEN
resolver
genesymbol_syn
KRM1
resolver
hgnc
HGNC:17550
resolver
uniprot
B0QY46
resolver
uniprot
B0QY47
resolver
uniprot
B1AJR5
resolver
uniprot
Q5TIB9
resolver
uniprot
Q6P3X6
resolver
uniprot
Q9BY70
resolver
uniprot
Q9UGS5
resolver
uniprot
Q9UGU1
resolver
uniprot_entry
KREM1_HUMAN
resolver
uniprot_sec
B0QY46
resolver
uniprot_sec
B0QY47
resolver
uniprot_sec
B1AJR5
resolver
uniprot_sec
Q5TIB9
resolver
uniprot_sec
Q6P3X6
resolver
uniprot_sec
Q9BY70
resolver
uniprot_sec
Q9UGS5
resolver
uniprot_sec
Q9UGU1
resolver
amino_acid_sequence
MAPPAARLALLSAAALTLAARPAPSPGLGPECFTANGADYRGTQNWTALQGGKPCLFWNETFQHPYNTLKYPNGEGGLGEHNYCRNPDGDVSPWCYVAEHEDGVYWKYCEIPACQMPGNLGCYKDHGNPPPLTGTSKTSNKLTIQTCISFCRSQRFKFAGMESGYACFCGNNPDYWKYGEAASTECNSVCFGDHTQPCGGDGRIILFDTLVGACGGNYSAMSSVVYSPDFPDTYATGRVCYWTIRVPGASHIHFSFPLFDIRDSADMVELLDGYTHRVLARFHGRSRPPLSFNVSLDFVILYFFSDRINQAQGFAVLYQAVKEELPQERPAVNQTVAEVITEQANLSVSAARSSKVLYVITTSPSHPPQTVPGSNSWAPPMGAGSHRVEGWTVYGLATLLILTVTAIVAKILLHVTFKSHRVPASGDLRDCHQPGTSGEIWSIFYKPSTSISIFKKKLKGQSQQDDRNPLVSD
uniprot
proteins
disease_involvement
DISEASE: Ectodermal dysplasia 13, hair/tooth type (ECTD13) [MIM:617392]: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin. {ECO:0000269|PubMed:27049303}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. In the absence of DKK1, potentiates Wnt-beta-catenin signaling by maintaining LRP5 or LRP6 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate decisions in the developing cochlea with an inhibitory role in hair cell fate specification. {ECO:0000250|UniProtKB:Q90Y90, ECO:0000250|UniProtKB:Q99N43}.
uniprot
proteins
mass_dalton
51744
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17804805
uniprot
proteins
pubmed
27049303
uniprot
proteins
pubmed
27524201
uniprot
proteins
sequence_length
473
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q99N43}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 393..413; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins