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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. Al... See more...
Aliases for KREMEN1 Gene
Aliases for KREMEN1 Gene
External Ids for KREMEN1 Gene
- HGNC: 17550
- NCBI Entrez Gene: 83999
- Ensembl: ENSG00000183762
- OMIM®: 609898
- UniProtKB/Swiss-Prot: Q96MU8
Previous HGNC Symbols for KREMEN1 Gene
- KREMEN
Previous GeneCards Identifiers for KREMEN1 Gene
- GC22P026166
- GC22P027793
- GC22P029469
- GC22P012433
Summaries 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 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.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for KREMEN1 Gene
- HGNC (17550)
- NCBI Entrez Gene (83999)
- Ensembl (ENSG00000183762)
- OMIM® (609898)
- UniProtKB/Swiss-Prot (Q96MU8)
- Open Targets Platform(ENSG00000183762)
- Monarch Initiative
- Search for KREMEN1 at DataMed
- Search for KREMEN1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KREMEN1 Gene
Genomics for KREMEN1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KREMEN1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KREMEN1
- Top Transcription factor binding sites by QIAGEN in the KREMEN1 gene promoter:
-
- CUTL1
- FAC1
- FOXC1
- ITF-2
- Lmo2
- Nkx6-1
- Pbx1a
- SREBP-1a
- SREBP-1b
- SREBP-1c
Genomic Locations for KREMEN1 Gene
Latest Assembly
- chr22:29,073,035-29,168,333
- (GRCh38/hg38)
- Size:
- 95,299 bases
- Orientation:
- Plus strand
Previous Assembly
- chr22:29,469,023-29,564,321
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 95,299 bases
- Orientation:
- Plus strand
- chr22:29,469,066-29,564,321
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 22q12.1 by HGNC
- 22q12.1 by Entrez Gene
- 22q12.1 by Ensembl
KREMEN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
- Miscellaneous:
-
- [Isoform 1]: Exon 1 splicing donor site is not canonical.
Three dimensional structures from OCA and Proteopedia for KREMEN1 Gene
Protein Expression for KREMEN1 Gene
Selected DME Specific Peptides for KREMEN1 Gene
- Q96MU8:
-
- CRNPDGD
- NYCRNPD
Post-translational modifications for KREMEN1 Gene
Other Protein References for KREMEN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences KREMEN1 / KREMEN-1 Antibody (LS-B5786) and KREMEN1 / KREMEN-1 Antibody (LS-B10086)
-
Custom Antibody ServicesOriGene Antibodies for KREMEN1
- Novus Biologicals Antibodies for KREMEN1
-
Abcam antibodies for KREMEN1
- Invitrogen Antibodies for KREMEN1 (AFLGC-Kremen1)
-
Biorbyt antibodies for KREMEN1
-
Boster Bio Antibodies for KREMEN1
-
Custom Antibody ServicesProSci Antibodies for KREMEN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for KREMEN1
- Sino Biological Antibodies for KREMEN1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for KREMEN1
- Origene Custom Protein Services for KREMEN1
- Novus Biologicals lysates for KREMEN1
- Sino Biological Recombinant Proteins for KREMEN1
- Sino Biological Cell Lysates for KREMEN1
-
Abcam proteins for KREMEN1
Assay products for research
- RayBiotech Custom Human KREMEN1 ELISA
-
Custom Assay ServicesOriGene ELISA Kits for KREMEN1
-
Boster Bio ELISA Kits for KREMEN1
Domains & Families for KREMEN1 Gene
Gene Families for KREMEN1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for KREMEN1 Gene
- InterPro:
- Blocks:
-
- Kringle
- CUB domain
- Carbohydrate-binding WSC
- ProtoNet:
Suggested Antigen Peptide Sequences for KREMEN1 Gene
- GenScript: Design optimal peptide antigens:
-
- Kringle-containing protein marking the eye and the nose (KREM1_HUMAN)
No data available for Graphical View of Domain Structure and 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17804805 |
Phenotypes for KREMEN1 Gene
- MGI mutant phenotypes for KREMEN1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KREMEN1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Reduced mammosphere formation
- Decreased POU5F1-GFP protein expression
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased NANOG protein expression
- Decreased OCT4 protein expression
Animal Models for KREMEN1 Gene
- MGI Knock Outs for KREMEN1:
-
- Kremen1 Kremen1<tm1Dgen>
Animal Models for research
-
Taconic Biosciences Mouse Models for KREMEN1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KREMEN1 - Starting at $85 >
- * KREMEN1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KREMEN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KREMEN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for KREMEN1
miRNA for KREMEN1 Gene
- miRTarBase miRNAs that target KREMEN1
-
- hsa-miR-145-5p (MIRT021532)
- hsa-miR-193b-3p (MIRT041497)
- hsa-miR-484 (MIRT042356)
- hsa-miR-378a-3p (MIRT043894)
- hsa-miR-149-5p (MIRT045608)
- hsa-miR-30c-5p (MIRT047897)
- hsa-let-7a-5p (MIRT300889)
- hsa-let-7b-5p (MIRT300890)
- hsa-let-7c-5p (MIRT300891)
- hsa-let-7d-5p (MIRT300892)
- hsa-let-7e-5p (MIRT300893)
- hsa-let-7f-5p (MIRT300894)
- hsa-miR-98-5p (MIRT300895)
- hsa-let-7g-5p (MIRT300896)
- hsa-let-7i-5p (MIRT300897)
- hsa-miR-570-5p (MIRT300898)
- hsa-miR-3915 (MIRT300900)
- hsa-miR-3927-3p (MIRT300901)
- hsa-miR-548ag (MIRT300902)
- hsa-miR-4458 (MIRT300903)
- hsa-miR-4459 (MIRT300904)
- hsa-miR-548ai (MIRT300905)
- hsa-miR-4476 (MIRT300906)
- hsa-miR-4500 (MIRT300907)
- hsa-miR-4650-3p (MIRT300909)
- hsa-miR-4773 (MIRT300911)
- hsa-miR-6831-5p (MIRT300913)
- hsa-miR-6876-5p (MIRT300914)
- hsa-miR-548ba (MIRT300915)
- hsa-miR-431-5p (MIRT438207)
- hsa-miR-4435 (MIRT474320)
- hsa-miR-3928-3p (MIRT474321)
- hsa-miR-665 (MIRT474322)
- hsa-miR-30d-5p (MIRT474323)
- hsa-miR-30b-5p (MIRT474324)
- hsa-miR-30a-5p (MIRT474325)
- hsa-miR-30e-5p (MIRT474326)
- hsa-miR-6807-5p (MIRT496686)
- hsa-miR-4663 (MIRT496687)
- hsa-miR-4693-3p (MIRT496688)
- hsa-miR-6751-3p (MIRT496689)
- hsa-miR-1199-5p (MIRT496690)
- hsa-miR-6761-5p (MIRT496691)
- hsa-miR-2681-3p (MIRT496692)
- hsa-miR-766-5p (MIRT536400)
- hsa-miR-4722-5p (MIRT536401)
- hsa-miR-6845-3p (MIRT536402)
- hsa-miR-4673 (MIRT536403)
- hsa-miR-4645-5p (MIRT536404)
- hsa-miR-454-3p (MIRT536405)
- hsa-miR-4295 (MIRT536406)
- hsa-miR-3666 (MIRT536407)
- hsa-miR-301b-3p (MIRT536408)
- hsa-miR-301a-3p (MIRT536409)
- hsa-miR-130b-3p (MIRT536410)
- hsa-miR-130a-3p (MIRT536411)
- hsa-miR-6165 (MIRT536412)
- hsa-miR-519c-3p (MIRT536413)
- hsa-miR-519b-3p (MIRT536414)
- hsa-miR-519a-3p (MIRT536415)
- hsa-miR-302a-3p (MIRT536416)
- hsa-miR-373-3p (MIRT536417)
- hsa-miR-302b-3p (MIRT536418)
- hsa-miR-520a-3p (MIRT536419)
- hsa-miR-302e (MIRT536420)
- hsa-miR-372-3p (MIRT536421)
- hsa-miR-520b (MIRT536422)
- hsa-miR-520c-3p (MIRT536423)
- hsa-miR-520d-3p (MIRT536424)
- hsa-miR-520e (MIRT536425)
- hsa-miR-302d-3p (MIRT536426)
- hsa-miR-302c-3p (MIRT536427)
- hsa-miR-1303 (MIRT623404)
- hsa-miR-5096 (MIRT623405)
- hsa-miR-197-3p (MIRT623406)
- hsa-miR-411-5p (MIRT623407)
- hsa-miR-4662a-5p (MIRT623408)
- hsa-miR-6832-5p (MIRT623409)
- hsa-miR-193b-5p (MIRT623410)
- hsa-miR-575 (MIRT623411)
- hsa-miR-4676-5p (MIRT623412)
- hsa-miR-6858-3p (MIRT623413)
- hsa-miR-483-5p (MIRT623414)
- hsa-miR-4279 (MIRT632789)
- hsa-miR-4722-3p (MIRT632790)
- hsa-miR-4740-3p (MIRT632791)
- hsa-miR-1207-3p (MIRT632792)
- hsa-miR-646 (MIRT632793)
- hsa-miR-122-3p (MIRT632794)
- hsa-miR-129-5p (MIRT667661)
- hsa-miR-3149 (MIRT667662)
- hsa-miR-4775 (MIRT667663)
- hsa-miR-4735-5p (MIRT667664)
- hsa-miR-590-3p (MIRT667665)
- hsa-miR-188-3p (MIRT667666)
- hsa-miR-4707-3p (MIRT667667)
- hsa-miR-324-3p (MIRT667668)
- hsa-miR-1913 (MIRT667669)
- hsa-miR-532-3p (MIRT667670)
- hsa-miR-3681-3p (MIRT667671)
- hsa-miR-216a-3p (MIRT667672)
- hsa-miR-128-3p (MIRT667673)
- hsa-miR-7151-3p (MIRT679060)
- hsa-miR-5095 (MIRT679061)
- hsa-miR-365b-5p (MIRT679062)
- hsa-miR-365a-5p (MIRT679063)
- hsa-miR-8052 (MIRT679064)
- hsa-miR-3199 (MIRT679065)
- hsa-miR-1976 (MIRT679066)
- hsa-miR-3653-5p (MIRT679067)
- hsa-miR-6747-3p (MIRT679068)
- hsa-miR-6727-3p (MIRT679069)
- hsa-miR-4438 (MIRT679070)
- hsa-miR-6762-3p (MIRT712426)
- hsa-miR-3140-3p (MIRT712427)
- hsa-miR-2467-3p (MIRT712428)
- hsa-miR-627-3p (MIRT712429)
- hsa-miR-4530 (MIRT712430)
- hsa-miR-922 (MIRT712431)
- hsa-miR-5582-5p (MIRT712432)
- hsa-miR-3190-5p (MIRT740971)
- hsa-miR-3136-5p (MIRT790236)
- hsa-miR-331-3p (MIRT790287)
- hsa-miR-3622b-5p (MIRT790318)
- hsa-miR-3945 (MIRT790381)
- hsa-miR-4253 (MIRT790389)
- hsa-miR-4439 (MIRT790450)
- hsa-miR-4513 (MIRT790509)
- hsa-miR-4732-3p (MIRT790594)
- hsa-miR-4757-5p (MIRT790614)
- hsa-miR-635 (MIRT790838)
- hsa-miR-6744-3p (MIRT790912)
- hsa-miR-6774-5p (MIRT790945)
- hsa-miR-6778-3p (MIRT790952)
- hsa-miR-6801-3p (MIRT790972)
- hsa-miR-6810-3p (MIRT790980)
- hsa-miR-6855-3p (MIRT791034)
- hsa-miR-6857-3p (MIRT791039)
- hsa-miR-6862-5p (MIRT791053)
- hsa-miR-6878-3p (MIRT791072)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KREMEN1
- Browse OriGene Inhibitory RNA Products For KREMEN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KREMEN1
Clone products for research
- Applied Biological Materials (abm): Clones for KREMEN1 - Starting at $45 >
- * KREMEN1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG207561
- MR207561
- MR207561L3
- MR207561L4
- RC208991
- RC208991L1
- RC208991L2
- RC208991L3
- RC208991L4
- RC219278
- RC219278L1
- RC219278L2
- RC219278L3
- RC219278L4
- RC227108
- RC227108L1
- RC227108L2
- RC227108L3
- RC227108L4
- RG208991
- RG219278
- RG227108
- RR203349
- RR203349L3
- RR203349L4
- MR207561L3V
- MR207561L4V
- RC208991L1V
- RC208991L2V
- RC208991L3V
- RC208991L4V
- RC219278L1V
- RC219278L2V
- RC219278L3V
- RC219278L4V
- RC227108L1V
- RC227108L2V
- RC227108L3V
- RC227108L4V
- RR203349L3V
- RR203349L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KREMEN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KREMEN1
Cell Lines for research
-
Horizon Cell Lines for KREMEN1
No data available for 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nuclear bodies (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for KREMEN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | HIV Life Cycle |
.45
|
|
| 2 | Negative regulation of TCF-dependent signaling by WNT ligand antagonists | ||
| 3 | Signaling by Wnt |
.71
|
|
| 4 | WNT Signaling |
WNT Signaling
-
|
|
| 5 | Signaling by GPCR | ||
Pathways by source for KREMEN1 Gene
2 BioSystems pathways for KREMEN1 Gene
1 Qiagen pathway for KREMEN1 Gene
- WNT Signaling
Interacting Proteins for KREMEN1 Gene
GPS-Prot Interaction Network for KREMEN1
| 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 | -- |
Transcripts for KREMEN1 Gene
mRNA/cDNA for KREMEN1 Gene
- 3 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000327813 2719 nts (view in UCSC)
- ENST00000400335 6181 nts (view in UCSC)
- ENST00000407188 1422 nts (view in UCSC)
- ENST00000453585 516 nts (view in UCSC)
- ENST00000474001 572 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KREMEN1 - Starting at $85 >
- * KREMEN1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KREMEN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KREMEN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for KREMEN1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KREMEN1
- Browse OriGene Inhibitory RNA Products For KREMEN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KREMEN1
Clone products for research
- Applied Biological Materials (abm): Clones for KREMEN1 - Starting at $45 >
- * KREMEN1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG207561
- MR207561
- MR207561L3
- MR207561L4
- RC208991
- RC208991L1
- RC208991L2
- RC208991L3
- RC208991L4
- RC219278
- RC219278L1
- RC219278L2
- RC219278L3
- RC219278L4
- RC227108
- RC227108L1
- RC227108L2
- RC227108L3
- RC227108L4
- RG208991
- RG219278
- RG227108
- RR203349
- RR203349L3
- RR203349L4
- MR207561L3V
- MR207561L4V
- RC208991L1V
- RC208991L2V
- RC208991L3V
- RC208991L4V
- RC219278L1V
- RC219278L2V
- RC219278L3V
- RC219278L4V
- RC227108L1V
- RC227108L2V
- RC227108L3V
- RC227108L4V
- RR203349L3V
- RR203349L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KREMEN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KREMEN1
| 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
Expression for KREMEN1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Lung (Respiratory System)
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Brain (Nervous System)
- Kidney (Urinary System)
- Thymus (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for KREMEN1 Gene
This gene is overexpressed in Whole Blood (x5.7).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KREMEN1
SOURCE GeneReport for Unigene cluster for KREMEN1 Gene:
Hs.229335Evidence on tissue expression from TISSUES for KREMEN1 Gene
- Eye(4.3)
- Skin(3.2)
- Nervous system(3)
Primer products for research
-
OriGene qPCR primer pairs for KREMEN1
-
OriGene qPCR primer pairs and template standards for KREMEN1
Gene Expression Assays for research
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.
| 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 |
- Species where no ortholog for KREMEN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Variants for KREMEN1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KREMEN1 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KREMEN1 Gene
Disorders for KREMEN1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ectodermal dysplasia 13, hair/tooth type |
|
|
| hand, foot and mouth disease |
|
|
| ectodermal dysplasia |
|
|
| osteoporosis-pseudoglioma syndrome |
|
|
| hyperostosis |
|
|
Search KREMEN1 in MalaCards
View complete list of genes associated with diseases
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 variants affecting the gene represented in this entry.
Additional Disease Information for KREMEN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for KREMEN1 Gene
Publications for KREMEN1 Gene
- 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 74
- 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
- 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 41
- 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 41
- 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 41
ExternalLinks
Products for KREMEN1 Gene
- Custom Antibody ServicesOriGene Antibodies for KREMEN1
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- MG207561
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- RC219278L1V
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- RC227108L1V
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- RR203349L3V
- RR203349L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For KREMEN1
- Sino Biological Human cDNA Clone for KREMEN1
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- Sino Biological Antibodies for KREMEN1
- Browse Sino Biological Assays
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- High-throughput Antibody Production Service
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- Novus Biologicals lysates for KREMEN1
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- Taconic Biosciences Mouse Models for KREMEN1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for KREMEN1 (AFLGC-Kremen1)
- VectorBuilder Custom and pre-made DNA vectors for KREMEN1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for KREMEN1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for KREMEN1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for KREMEN1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for KREMEN1
- antibodies-online: Show 34 available KREMEN1 Antibodies ranked by validation data
- Compare Top KREMEN1 Antibodies
- antibodies-online: Show 10 available KREMEN1 Elisa Kits ranked by validation data
- Compare Top KREMEN1 Elisa Kits
- antibodies-online: Show 11 available KREMEN1 Proteins ranked by validation data
- Compare Top KREMEN1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for KREMEN1
- Search Santa Cruz Biotechnology (SCBT) for KREMEN1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for KREMEN1
- Horizon Cell Lines for KREMEN1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KREMEN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KREMEN1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for KREMEN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KREMEN1
- Biorbyt antibodies for KREMEN1
Sources for KREMEN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB