KREMEN1 (kringle containing transmembrane protein 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83999
Gene name Gene Name - the full gene name approved by the HGNC.
Kringle containing transmembrane protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KREMEN1
Synonyms (NCBI Gene) Gene synonyms aliases
ECTD13, KREMEN, KRM1
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1057524917 T>C Pathogenic Coding sequence variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1142)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IBA
GO:0005515 Function Protein binding IPI 17804805, 27524201
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0006915 Process Apoptotic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609898 17550 ENSG00000183762
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
TFQHPYNTLKYPNGEGGLGEHNYCRNPDGDVSPWCYVAEHEDGVYWKYCEIPACQMPGNL
GCYKDHGNPPPLTGTSKTSNKLTIQTCISFCRSQRFKFAGMESGYACFCGNNPDYWKYGE
AASTECNSVCFGDHTQPCGGDGRIILFDTLVGACGGNYSAMSSVVYSPDFPDTYATGRVC
YWTIRVPGASHIHFSFPLFDIRDSADMVELLDGYTHRVLARFHGRSRPPLSFNVSLDFVI
LYFFSDRINQAQGFAVLYQAVKEELPQERPAVNQTVAEVITEQANLSVSAARSSKVLYVI
TTSPSHPPQTVPGSNSWAPPMGAGSHRVEGWTVYGLATLLILTVTAIVAKILLHVTFKSH
RVPASGDLRDCHQPGTSGEIWSIFYKPSTSISIFKKKLKGQSQQDDRNPLVSD
Sequence length 473
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ectodermal dysplasia ectodermal dysplasia 13, hair/tooth type rs1057524917 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenocortical Carcinoma Associate 25490274
Anodontia Associate 28813618
Deafness oligodontia syndrome Associate 27049303
Ectodermal Dysplasia Associate 27049303
Glaucoma Stimulate 39342991
Idiopathic Pulmonary Fibrosis Associate 20650998
Multiple Myeloma Associate 20846389
Neurodegenerative Diseases Associate 25175702
Osteoblastoma Associate 24236197
Parkinson Disease Associate 25175702