KREMEN1
Kremen protein 1
Also known as: KREM1_HUMAN, KREMEN, KRM1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96MU8
- Gene
- KREMEN1
- Ensembl
- ENSG00000183762
- Chromosome
- 22
- Canonical length
- 473 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
OverviewNCBI 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 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]
Canonical amino-acid sequenceUniProt
473 residues, UniProt reviewed canonical sequence.
>Q96MU8|KREMEN1
1 MAPPAARLAL LSAAALTLAA RPAPSPGLGP ECFTANGADY RGTQNWTALQ GGKPCLFWNE
61 TFQHPYNTLK YPNGEGGLGE HNYCRNPDGD VSPWCYVAEH EDGVYWKYCE IPACQMPGNL
121 GCYKDHGNPP PLTGTSKTSN KLTIQTCISF CRSQRFKFAG MESGYACFCG NNPDYWKYGE
181 AASTECNSVC FGDHTQPCGG DGRIILFDTL VGACGGNYSA MSSVVYSPDF PDTYATGRVC
241 YWTIRVPGAS HIHFSFPLFD IRDSADMVEL LDGYTHRVLA RFHGRSRPPL SFNVSLDFVI
301 LYFFSDRINQ AQGFAVLYQA VKEELPQERP AVNQTVAEVI TEQANLSVSA ARSSKVLYVI
361 TTSPSHPPQT VPGSNSWAPP MGAGSHRVEG WTVYGLATLL ILTVTAIVAK ILLHVTFKSH
421 RVPASGDLRD CHQPGTSGEI WSIFYKPSTS ISIFKKKLKG QSQQDDRNPL VSDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KREMEN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 45 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 45 nTPM
- tongue: 40 nTPM
- esophagus: 35 nTPM
- skin: 34 nTPM
- skeletal muscle: 27 nTPM
- salivary gland: 27 nTPM
Single-cell type
- neutrophils: 501 nCPM
- myosatellite cells: 226 nCPM
- esophageal apical cells: 207 nCPM
- bergmann glia: 152 nCPM
- pituitary stem cells: 146 nCPM
- erythrocyte progenitors: 125 nCPM
Immune cell
- neutrophil: 4.5 nTPM
- basophil: 1.3 nTPM
- plasmacytoid DC: 0.6 nTPM
- NK-cell: 0.3 nTPM
- classical monocyte: 0.2 nTPM
- intermediate monocyte: 0.2 nTPM
Brain region
- basal ganglia: 46 nTPM
- thalamus: 26 nTPM
- hippocampal formation: 26 nTPM
- cerebral cortex: 21 nTPM
- amygdala: 21 nTPM
- midbrain: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KREMEN1.
Disease | AllUniProt
Conditions KREMEN1 is implicated in, by any mechanism.
- Ectodermal dysplasia 13, hair/tooth type (ECTD13) MIM:617392
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 142 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Ectodermal dysplasia 13, hair/tooth type
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.64
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.78
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- cell communication
- limb development
- negative regulation of axon regeneration
- negative regulation of canonical Wnt signaling pathway
- negative regulation of ossification
- regulation of canonical Wnt signaling pathway
- signal transduction
- Wnt signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KREMEN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KREMEN1 as an antibody target. Whether an autoantibody or antibody against KREMEN1 could matter depends on whether native KREMEN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KREMEN1 is annotated at the cell surface, where native KREMEN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KREMEN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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