KREMEN1 (kringle containing transmembrane protein 1)
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Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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83999 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Kringle containing transmembrane protein 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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KREMEN1 |
SynonymsGene synonyms aliases
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ECTD13, KREMEN, KRM1 |
ChromosomeChromosome number
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22 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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22q12.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1057524917 |
T>C |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
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 |
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Sequence |
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Sequence length |
473 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Ectodermal dysplasia |
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE |
rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157 |
27049303 |
Oligodontia |
Oligodontia |
rs1591901585 |
|
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
20153141 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Hypodontia |
Hypodontia |
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