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KREMEN1 (kringle containing transmembrane protein 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83999
Gene nameGene Name - the full gene name approved by the HGNC.
Kringle containing transmembrane protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KREMEN1
SynonymsGene synonyms aliases
ECTD13, KREMEN, KRM1
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1057524917 T>C Pathogenic Coding sequence variant, intron variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021532 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT047897 hsa-miR-30c-5p CLASH 23622248
MIRT045608 hsa-miR-149-5p CLASH 23622248
MIRT043894 hsa-miR-378a-3p CLASH 23622248
MIRT042356 hsa-miR-484 CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17804805
GO:0005886 Component Plasma membrane IEA
GO:0006915 Process Apoptotic process ISS
GO:0007154 Process Cell communication TAS
GO:0016020 Component Membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q96MU8
Protein name Kremen protein 1 (Dickkopf receptor) (Kringle domain-containing transmembrane protein 1) (Kringle-containing protein marking the eye and the nose)
Protein 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
PDB 5FWS , 5FWT , 5FWU , 5FWV , 5FWW , 7BZT , 7BZU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00051 Kringle
32 114
Kringle domain
Domain
PF01822 WSC
119 200
WSC domain
Domain
PF00431 CUB
214 318
CUB domain
Domain
Sequence
MAPPAARLALLSAAALTLAARPAPSPGLGPECFTANGADYRGTQNWTALQGGKPCLFWNE
TFQHPYNTLKYPNGEGGLGEHNYCRNPDGDVSPWCYVAEHEDGVYWKYCEIPAC
QMPGNL
GCYKDHGNPPPLTGTSKTSNKLTIQTCISFCRSQRFKFAGMESGYACFCGNNPDYWKYGE
AASTECNSVCFGDHTQPCGG
DGRIILFDTLVGACGGNYSAMSSVVYSPDFPDTYATGRVC
YWTIRVPGASHIHFSFPLFDIRDSADMVELLDGYTHRVLARFHGRSRPPLSFNVSLDFVI
LYFFSDRINQAQGFAVLY
QAVKEELPQERPAVNQTVAEVITEQANLSVSAARSSKVLYVI
TTSPSHPPQTVPGSNSWAPPMGAGSHRVEGWTVYGLATLLILTVTAIVAKILLHVTFKSH
RVPASGDLRDCHQPGTSGEIWSIFYKPSTSISIFKKKLKGQSQQDDRNPLVSD
Sequence length 473
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Ectodermal dysplasia ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157 27049303
Oligodontia Oligodontia rs1591901585
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 20153141
Unknown
Disease name Disease term dbSNP ID References
Hypodontia Hypodontia

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