Gene Gene information from NCBI Gene database.
Entrez ID 83999
Gene name Kringle containing transmembrane protein 1
Gene symbol KREMEN1
Synonyms (NCBI Gene)
ECTD13KREMENKRM1
Chromosome 22
Chromosome location 22q12.1
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609898 17550 ENSG00000183762
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ectodermal dysplasia 13, hair/tooth type Pathogenic rs1057524917 RCV000445554
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 25490274 Associate
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 25490274
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 24330574
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 28813618 Associate
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 25490274
★☆☆☆☆
Found in Text Mining only
Ectodermal Dysplasia Ectodermal Dysplasia BEFREE 27049303
★☆☆☆☆
Found in Text Mining only
Ectodermal Dysplasia Ectodermal dysplasia Pubtator 27049303 Associate
★☆☆☆☆
Found in Text Mining only
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE Ectodermal dysplasia GENOMICS_ENGLAND_DG 27049303
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE Ectodermal dysplasia UNIPROT_DG 27049303
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE Ectodermal dysplasia CTD_human_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)