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Aliases for KREMEN1 Gene

Aliases for KREMEN1 Gene

  • Kringle Containing Transmembrane Protein 1 2 3 5
  • Kringle-Containing Protein Marking The Eye And The Nose 3 4
  • Kringle Domain-Containing Transmembrane Protein 1 3 4
  • Dickkopf Receptor 3 4
  • KREMEN 3 4
  • KRM1 3 4
  • Kringle-Coding Gene Marking The Eye And The Nose 3
  • Kringle Containing Transmembrane Protein 2
  • Kremen Protein 1 3
  • ECTD13 3

External Ids for KREMEN1 Gene

Previous HGNC Symbols for KREMEN1 Gene

  • KREMEN

Previous GeneCards Identifiers for KREMEN1 Gene

  • GC22P026166
  • GC22P027793
  • GC22P029469
  • GC22P012433

Summaries for KREMEN1 Gene

Entrez Gene Summary for KREMEN1 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. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for KREMEN1 Gene

KREMEN1 (Kringle Containing Transmembrane Protein 1) is a Protein Coding gene. Diseases associated with KREMEN1 include Ectodermal Dysplasia 13, Hair/Tooth Type and Osteoblastoma. Among its related pathways are HIV Life Cycle and Signaling by Wnt. An important paralog of this gene is KREMEN2.

UniProtKB/Swiss-Prot for KREMEN1 Gene

  • 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 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate decisions in the developing cochlea with an inhibitory role in hair cell fate specification.

Gene Wiki entry for KREMEN1 Gene

Additional gene information for KREMEN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KREMEN1 Gene

Genomics for KREMEN1 Gene

GeneHancer (GH) Regulatory Elements for KREMEN1 Gene

Promoters and enhancers for KREMEN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J029070 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 681.7 +0.1 67 4.8 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 GLIS2 ZNF207 KREMEN1 C22orf31 ENSG00000226772 CCDC117 EMID1 XBP1
GH22J028740 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.1 -330.7 -330705 2.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 YBX1 IRF4 YY1 HSCB GC22M028742 GC22M028741 CHEK2 KREMEN1 EWSR1 CCDC117 THOC5 ENSG00000272858 ZNRF3
GH22J029077 Enhancer 1.3 Ensembl ENCODE dbSUPER 28.2 +6.0 6016 3.6 PKNOX1 SMAD1 NFIB NFRKB FEZF1 ZNF2 YY1 ZNF335 ZNF121 ZNF766 KREMEN1 C22orf31 ENSG00000226772
GH22J029201 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 +132.6 132648 8.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A YBX1 IRF4 TCF12 GLIS2 ZNF207 EMID1 LOC101929638 EWSR1 TTC28 KREMEN1 C22orf31 CHEK2 GC22P029193
GH22J029083 Enhancer 1.1 Ensembl ENCODE dbSUPER 27.6 +11.1 11087 1.1 PKNOX1 TEAD4 BACH1 FOSL1 CC2D1A CTBP1 ZNF766 POLR2A ETV6 ATF7 KREMEN1 ENSG00000226772 RNU6-810P CCDC117 EMID1 C22orf31
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KREMEN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KREMEN1 gene promoter:
  • Nkx6-1
  • Lmo2
  • CUTL1
  • FAC1
  • SREBP-1c
  • FOXC1
  • SREBP-1b
  • SREBP-1a
  • ITF-2
  • Pbx1a

Genomic Locations for KREMEN1 Gene

Genomic Locations for KREMEN1 Gene
chr22:29,073,078-29,168,333
(GRCh38/hg38)
Size:
95,256 bases
Orientation:
Plus strand
chr22:29,469,066-29,564,321
(GRCh37/hg19)
Size:
95,256 bases
Orientation:
Plus strand

Genomic View for KREMEN1 Gene

Genes around KREMEN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KREMEN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KREMEN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KREMEN1 Gene

Proteins for KREMEN1 Gene

  • Protein details for KREMEN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MU8-KREM1_HUMAN
    Recommended name:
    Kremen protein 1
    Protein Accession:
    Q96MU8
    Secondary Accessions:
    • B0QY46
    • B0QY47
    • B1AJR5
    • Q5TIB9
    • Q6P3X6
    • Q9BY70
    • Q9UGS5
    • Q9UGU1

    Protein attributes for KREMEN1 Gene

    Size:
    473 amino acids
    Molecular mass:
    51744 Da
    Quaternary structure:
    • Forms a ternary complex with DKK1 and LRP6 (PubMed:27524201). Interacts with LRP6 in a DKK1-dependent manner. Interacts with DKK1 and RSPO1 (via FU repeats) (PubMed:17804805).

    Three dimensional structures from OCA and Proteopedia for KREMEN1 Gene

    Alternative splice isoforms for KREMEN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KREMEN1 Gene

Post-translational modifications for KREMEN1 Gene

  • Glycosylation at Asn345, isoforms=2, 3333, isoforms=2, 3293, isoforms=2, 3217, Asn59, and Asn45
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for KREMEN1
  • Boster Bio Antibodies for KREMEN1

No data available for DME Specific Peptides for KREMEN1 Gene

Domains & Families for KREMEN1 Gene

Gene Families for KREMEN1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for KREMEN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KREMEN1: view

No data available for UniProtKB/Swiss-Prot for KREMEN1 Gene

Function for KREMEN1 Gene

Molecular function for KREMEN1 Gene

UniProtKB/Swiss-Prot 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 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate decisions in the developing cochlea with an inhibitory role in hair cell fate specification.

Phenotypes From GWAS Catalog for KREMEN1 Gene

Gene Ontology (GO) - Molecular Function for KREMEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17804805
genes like me logo Genes that share ontologies with KREMEN1: view
genes like me logo Genes that share phenotypes with KREMEN1: view

Human Phenotype Ontology for KREMEN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KREMEN1 Gene

MGI Knock Outs for KREMEN1:

Animal Model Products

  • Taconic Biosciences Mouse Models for KREMEN1

miRNA for KREMEN1 Gene

miRTarBase miRNAs that target KREMEN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KREMEN1 Gene

Localization for KREMEN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KREMEN1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KREMEN1 gene
Compartment Confidence
plasma membrane 4
extracellular 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KREMEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane TAS 11267660
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KREMEN1: view

Pathways & Interactions for KREMEN1 Gene

genes like me logo Genes that share pathways with KREMEN1: view

SIGNOR curated interactions for KREMEN1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for KREMEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process ISS --
GO:0007154 cell communication TAS 11267660
GO:0016055 Wnt signaling pathway IEA --
GO:0030279 negative regulation of ossification IEA --
GO:0060173 limb development ISS --
genes like me logo Genes that share ontologies with KREMEN1: view

Drugs & Compounds for KREMEN1 Gene

No Compound Related Data Available

Transcripts for KREMEN1 Gene

Unigene Clusters for KREMEN1 Gene

Kringle containing transmembrane protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KREMEN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8
SP1: -
SP2: -
SP3:

Relevant External Links for KREMEN1 Gene

GeneLoc Exon Structure for
KREMEN1
ECgene alternative splicing isoforms for
KREMEN1

Expression for KREMEN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KREMEN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KREMEN1 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for KREMEN1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KREMEN1 Gene



Protein tissue co-expression partners for KREMEN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KREMEN1 Gene:

KREMEN1

SOURCE GeneReport for Unigene cluster for KREMEN1 Gene:

Hs.229335

Evidence on tissue expression from TISSUES for KREMEN1 Gene

  • Eye(4.2)
  • Skin(2.8)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with KREMEN1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KREMEN1 Gene

Orthologs for KREMEN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KREMEN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KREMEN1 34 33
  • 99.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KREMEN1 34 33
  • 91.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KREMEN1 34 33
  • 89.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kremen1 33
  • 88.05 (n)
mouse
(Mus musculus)
Mammalia Kremen1 16 34 33
  • 87.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KREMEN1 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KREMEN1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves KREMEN1 34 33
  • 71.88 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kremen1 33
  • 69.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia kremen 33
zebrafish
(Danio rerio)
Actinopterygii kremen1 34 33
  • 62.5 (n)
OneToOne
Species where no ortholog for KREMEN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KREMEN1 Gene

ENSEMBL:
Gene Tree for KREMEN1 (if available)
TreeFam:
Gene Tree for KREMEN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KREMEN1: view image

Paralogs for KREMEN1 Gene

Paralogs for KREMEN1 Gene

(3) SIMAP similar genes for KREMEN1 Gene using alignment to 3 proteins:

  • KREM1_HUMAN
  • C1P671_HUMAN
  • H7BZ87_HUMAN
genes like me logo Genes that share paralogs with KREMEN1: view

Variants for KREMEN1 Gene

Sequence variations from dbSNP and Humsavar for KREMEN1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1057524917 pathogenic, Ectodermal dysplasia 13, hair/tooth type 29,125,411(+) T/C coding_sequence_variant, intron_variant, missense_variant
VAR_078807 Ectodermal dysplasia 13, hair/tooth type (ECTD13) [MIM:617392] p.Phe207Ser
rs1000012115 -- 29,154,357(+) A/C genic_downstream_transcript_variant, intron_variant
rs1000035348 -- 29,164,524(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000044623 -- 29,154,107(+) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KREMEN1 Gene

Variant ID Type Subtype PubMed ID
esv2128713 CNV deletion 18987734
esv24546 CNV loss 19812545
esv2724120 CNV deletion 23290073
esv3385945 CNV insertion 20981092
esv3446692 CNV insertion 20981092
nsv1149728 CNV insertion 26484159
nsv1153950 CNV insertion 26484159
nsv519517 CNV loss 19592680
nsv524259 CNV loss 19592680
nsv524483 CNV loss 19592680
nsv817986 CNV loss 17921354

Variation tolerance for KREMEN1 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.98; 79.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KREMEN1 Gene

Human Gene Mutation Database (HGMD)
KREMEN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KREMEN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KREMEN1 Gene

Disorders for KREMEN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KREMEN1 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KREM1_HUMAN
  • Ectodermal dysplasia 13, hair/tooth type (ECTD13) [MIM:617392]: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin. {ECO:0000269 PubMed:27049303}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KREMEN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KREMEN1: view

No data available for Genatlas for KREMEN1 Gene

Publications for KREMEN1 Gene

  1. Structure of the Dual-Mode Wnt Regulator Kremen1 and Insight into Ternary Complex Formation with LRP6 and Dickkopf. (PMID: 27524201) Zebisch M … Jones EY (Structure (London, England : 1993) 2016) 3 4 58
  2. Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. (PMID: 27049303) Issa YA … Kanaan M (European journal of human genetics : EJHG 2016) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58

Products for KREMEN1 Gene

  • Boster Bio Antibodies for KREMEN1
  • Boster Bio ELISA Kits for KREMEN1

Sources for KREMEN1 Gene

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