KREMEN1 - kringle containing transmembrane protein 1 Gene

Also Known as KRM1; ECTD13; KREMEN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83999

About KREMEN1

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:29,073,035-29,168,333 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 9.8), esophagus (RPKM 9.6) and 23 other tissues.

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 signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Mutations in this gene result in ectodermal dysplasia. This protein has also been found to be a functional receptor for Coxsackievirus A10 and may be an alternative entry receptor for SARS-CoV-2. [provided by RefSeq, Nov 2021]

KREMEN1 Products (2)

mRNA Protein Name
NM_001039570.3 NP_001034659.2 kremen protein 1 isoform 3 precursor
NM_032045.5 NP_114434.3 kremen protein 1 isoform 2 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17804805 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KREMEN1 Protein Structure

Kringle

Kringle: Kringle domain (32 - 114)

WSC

WSC: WSC domain (120 - 200)

CUB

CUB: CUB domain (214 - 318)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 473 a.a.
Protein Preferred Names Protein Names

kremen protein 1

  • dickkopf receptor

KREMEN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KREMEN1 Q96MU8 DKK1 Homo sapiens O94907
SPR
27524201
Intra
KREMEN1 Q96MU8 DKK1 Homo sapiens O94907 17804805
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant KREMEN1 Proteins

Cat. No. Product Name Accession Purity
HY-P76471 KREMEN1 Protein, Human (HEK293, His) Q96MU8-2/NP_114434.3 (A20-T394) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Ectodermal Dysplasia 13, Hair/Tooth Type
  • ECTD13

  • Ectodermal Dysplasia 13

Hand, Foot And Mouth Disease
  • Vesicular Stomatitis And Exanthem

Ectodermal Dysplasia
  • Congenital Ectodermal Defect

  • Congenital Ectodermal Dysplasia

  • Ectodermal Dysplasia Syndrome

  • Dysplasia, Ectodermal

Osteoporosis-Pseudoglioma Syndrome
  • OPPG

  • Ops

  • Osteoporosis With Pseudoglioma

  • Osteogenesis Imperfecta, Ocular Form

  • Ocular Form Of Osteogenesis Imperfecta

  • Osteogenesis Imperfecta Ocular Form

  • Osteoporosis Pseudoglioma Syndrome

  • Pseudoglioma With Bone Fragility

Hyperostosis
  • Hypertrophy Of Bone

  • Bone Hypertrophy

  • Bone Thickening

  • Periosteum Thickening

Mouth Disease
  • Mouth Diseases

  • Mouth Disorders

Schopf-Schulz-Passarge Syndrome
  • SSPS

  • Eccrine Tumors With Ectodermal Dysplasia

  • Eccrine Tumors-Ectodermal Dysplasia

  • Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

  • Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

  • Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

  • Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis

  • Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia And Hypotrichosis

Sclerosteosis 2
  • SOST2

  • Sclerosteosis, Type 2

Gapo Syndrome
  • GAPOS

  • Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy

  • Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome

  • Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy

Van Buchem Disease
  • Hyperostosis Corticalis Generalisata

  • Hyperphosphatasemia Tarda

  • VBCH

  • Sost-Related Sclerosing Bone Dysplasia

  • Endosteal Hyperostosis Autosomal Recessive

  • Sclerosteosis

  • Endosteal Hyperostosis, Autosomal Recessive

  • Hyperotosis Corticalis Generalisata Familiaris

  • Sost Sclerosing Bone Dysplasia

  • Smith-Lemli-Opitz Syndrome

Sclerosteosis
  • Cortical Hyperostosis With Syndactyly

  • Sost

  • Cortical Hyperostosis-Syndactyly Syndrome

Tooth Agenesis
  • Oligodontia

  • Hypodontia

  • Selective Tooth Agenesis

  • Tooth Agenesis, Selective

  • Familial Tooth Agenesis

  • Anodontia

  • Congenital Absence Of One Tooth

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta KREMEN1 VGNC VGNC:74066
Mus musculus KREMEN1 MGD MGI:1933988
Bos taurus KREMEN1 VGNC VGNC:53911
Felis catus KREMEN1 VGNC VGNC:63167
Rattus norvegicus KREMEN1 RGD RGD:620789
Canis familiaris KREMEN1 VGNC VGNC:42511
Others KREMEN1 NCBI