CRIM1 Gene: Cysteine Rich Transmembrane BMP Regulator 1
Comprehensive gene card for CRIM1, a key regulator of BMP signaling and vascular development.
Gene Information Card
| Symbol | CRIM1 |
|---|---|
| Full Name | Cysteine Rich Transmembrane BMP Regulator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.2 |
| NCBI Gene ID | 51232 ncbi.nlm.nih.gov/gene/51232 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9NZV1 |
| OMIM ID | 604366 |
| HGNC ID | 2359 |
| Aliases | CRIM-1, S52, CRIM1a, CRIM1b |
Description
CRIM1 (Cysteine Rich Transmembrane BMP Regulator 1) encodes a transmembrane protein that modulates bone morphogenetic protein (BMP) signaling. It is involved in vascular development, neural tube closure, and kidney morphogenesis. The protein contains multiple cysteine-rich repeats and a von Willebrand factor type C domain, and is thought to act as a negative regulator of BMP activity by binding BMPs and preventing their interaction with receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pre-eclampsia | Altered CRIM1 expression may affect placental vascular remodeling via BMP signaling dysregulation. | PMID: 20602914 |
| Neural tube defects | CRIM1 knockout mice exhibit exencephaly and spina bifida, suggesting a role in neural tube closure. | PMID: 15215207 |
| Kidney agenesis/hypoplasia | CRIM1 deficiency in mice leads to renal agenesis or hypoplasia due to disrupted BMP signaling in nephrogenesis. | PMID: 17584888 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Placenta | 12.1 | High |
| Heart | 4.3 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.8 | Embryonic kidney cell line |
| HUVEC | 15.3 | Umbilical vein endothelial cells |
| SH-SY5Y | 5.1 | Neuroblastoma cell line |
| HeLa | 2.4 | Cervical carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% (gnomAD) | Potential loss of BMP-binding activity |
| c.56_57del (p.Leu19Profs*12) | Frameshift | Rare | Likely loss of function |
| c.789G>A (p.Trp263*) | Nonsense | 0.001% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Leu19Profs*12, p.Trp263*) are predicted to cause loss of function by truncating the protein or triggering nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CRIM1 in the literature or curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CRIM1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• BMP signaling pathway (Reactome: R-HSA-201451)
• Signaling by BMP (Reactome: R-HSA-201451)
Protein Summary
CRIM1 is a 1036-amino-acid transmembrane protein with an N-terminal signal peptide, multiple cysteine-rich repeats, a von Willebrand factor type C domain, and a C-terminal transmembrane domain. It localizes to the plasma membrane and is involved in modulating BMP signaling by binding BMP ligands and preventing their interaction with cell surface receptors. The protein is expressed in various tissues, notably placenta, kidney, and brain, and plays critical roles in embryonic development, particularly in vascular and neural tube formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRIM1 Knockout HEK293 Cell Line | EDJ-KQ2531 | Human | 51232 | Details Get a Quote |
| CRIM1 Knockout A-549 Cell Line | EDJ-KQ23156 | Human | 51232 | Details Get a Quote |
| CRIM1 Knockout HCT 116 Cell Line | EDJ-KQ23157 | Human | 51232 | Details Get a Quote |
| CRIM1 Knockout HeLa Cell Line | EDJ-KQ23158 | Human | 51232 | Details Get a Quote |
