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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]
KREMEN1 (Kringle Containing Transmembrane Protein 1) is a Protein Coding gene. Diseases associated with KREMEN1 include Ectodermal Dysplasia 13, Hair/Tooth Type and Hand, Foot And Mouth Disease. Among its related pathways are Signaling by GPCR and HIV Life Cycle. An important paralog of this gene is KREMEN2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 17804805 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | TAS | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0043025 | neuronal cell body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | HIV Life Cycle |
.45
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2 | Negative regulation of TCF-dependent signaling by WNT ligand antagonists | ||
3 | Signaling by Wnt |
.71
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|
4 | WNT Signaling |
WNT Signaling
-
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|
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | ISS | -- |
GO:0007154 | cell communication | TAS | -- |
GO:0016055 | Wnt signaling pathway | IEA | -- |
GO:0030279 | negative regulation of ossification | IEA | -- |
GO:0048681 | negative regulation of axon regeneration | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | - | ||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KREMEN1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KREMEN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KREMEN1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kremen1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kremen1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KREMEN1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KREMEN1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KREMEN1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kremen1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | kremen 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kremen1 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057524917 | Pathogenic: Ectodermal dysplasia 13, hair/tooth type. Ectodermal dysplasia 13, hair/tooth type (ECTD13) [MIM:617392] | 29,125,411(+) |
T/Cp.Phe207Ser NM_001039570.3(KREMEN1):c.626T>C (p.Phe209Ser) |
MISSENSE | |
rs117146420 | Benign: not provided | 29,142,001(+) |
G/A NM_001039570.3(KREMEN1):c.1266G>A (p.Ser422=) |
SYNONYMOUS | |
rs142876972 | Likely Benign: not provided | 29,138,647(+) |
G/A NM_001039570.3(KREMEN1):c.988G>A (p.Glu330Lys) |
MISSENSE | |
rs16987136 | Benign: not provided | 29,138,633(+) |
A/G NM_001039570.3(KREMEN1):c.974A>G (p.Glu325Gly) |
MISSENSE | |
rs16987139 | Benign: not provided | 29,138,676(+) |
C/T NM_001039570.3(KREMEN1):c.1017C>T (p.Ala339=) |
SYNONYMOUS |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ectodermal dysplasia 13, hair/tooth type |
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hand, foot and mouth disease |
|
|
ectodermal dysplasia |
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osteoporosis-pseudoglioma syndrome |
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|
hyperostosis |
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