Gene Gene information from NCBI Gene database.
Entrez ID 51232
Gene name Cysteine rich transmembrane BMP regulator 1
Gene symbol CRIM1
Synonyms (NCBI Gene)
CRIM-1S52
Chromosome 2
Chromosome location 2p22.2
Summary This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth f
miRNA miRNA information provided by mirtarbase database.
492
miRTarBase ID miRNA Experiments Reference
MIRT004053 hsa-miR-20b-5p Luciferase reporter assayqRT-PCR 21042576
MIRT004053 hsa-miR-20b-5p Luciferase reporter assayqRT-PCR 21042576
MIRT006756 hsa-miR-20a-5p Luciferase reporter assay 21743293
MIRT006756 hsa-miR-20a-5p Luciferase reporter assay 21743293
MIRT020040 hsa-miR-375 Microarray 20215506
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0004857 Function Enzyme inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005010 Function Insulin-like growth factor receptor activity TAS 10642437
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606189 2359 ENSG00000150938
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZV1
Protein name Cysteine-rich motor neuron 1 protein (CRIM-1) (Cysteine-rich repeat-containing protein S52) [Cleaved into: Processed cysteine-rich motor neuron 1 protein]
Protein function May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its pr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00219 IGFBP 37 90 Insulin-like growth factor binding protein Domain
PF00093 VWC 336 390 von Willebrand factor type C domain Family
PF00093 VWC 403 456 von Willebrand factor type C domain Family
PF02822 Antistasin 469 498 Antistasin family Domain
PF02822 Antistasin 505 532 Antistasin family Domain
PF02822 Antistasin 539 564 Antistasin family Domain
PF02822 Antistasin 567 592 Antistasin family Domain
PF00093 VWC 608 662 von Willebrand factor type C domain Family
PF00093 VWC 679 734 von Willebrand factor type C domain Family
PF00093 VWC 753 808 von Willebrand factor type C domain Family
PF00093 VWC 819 873 von Willebrand factor type C domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in pancreas, kidney, skeletal muscle, lung, placenta, brain, heart, spleen, liver and small intestine. Expressed in blood vessels (at protein level). {ECO:0000269|PubMed:10642437, ECO:0000269|PubMed:12464430}.
Sequence
MYLVAGDRGLAGCGHLLVSLLGLLLLLARSGTRALVCLPCDESKCEEPRNCPGSIVQGVC
GCCYTCASQRNESCGGTFGIYGTCDRGLRC
VIRPPLNGDSLTEYEAGVCEDENWTDDQLL
GFKPCNENLIAGCNIINGKCECNTIRTCSNPFEFPSQDMCLSALKRIEEEKPDCSKARCE
VQFSPRCPEDSVLIEGYAPPGECCPLPSRCVCNPAGCLRKVCQPGNLNILVSKASGKPGE
CCDLYECKPVFGVDCRTVECPPVQQTACPPDSYETQVRLTADGCCTLPTRCECLSGLCGF
PVCEVGSTPRIVSRGDGTPGKCCDVFECVNDTKPACVFNNVEYYDGDMFRMDNCRFCRCQ
GGVAICFTAQCGEINCERYYVPEGECCPVC
EDPVYPFNNPAGCYANGLILAHGDRWREDD
CTFCQCVNGERHCVATVCGQTCTNPVKVPGECCPVC
EEPTIITVDPPACGELSNCTLTGK
DCINGFKRDHNGCRTCQC
INTEELCSERKQGCTLNCPFGFLTDAQNCEICECRPRPKKCR
PIICDKYCPLGLLKNKHGCDICRC
KKCPELSCSKICPLGFQQDSHGCLICKCREASASAG
PPILSGTCLTVDGHHHKNEESWHDGCRECYCLNGREMCALITCPVPACGNPTIHPGQCCP
SC
ADDFVVQKPELSTPSICHAPGGEYFVEGETWNIDSCTQCTCHSGRVLCETEVCPPLLC
QNPSRTQDSCCPQC
TDQPFRPSLSRNNSVPNYCKNDEGDIFLAAESWKPDVCTSCICIDS
VISCFSESCPSVSCERPVLRKGQCCPYC
IEDTIPKKVVCHFSGKAYADEERWDLDSCTHC
YCLQGQTLCSTVSCPPLPCVEPINVEGSCCPMC
PEMYVPEPTNIPIEKTNHRGEVDLEVP
LWPTPSENDIVHLPRDMGHLQVDYRDNRLHPSEDSSLDSIASVVVPIIICLSIIIAFLFI
NQKKQWIPLLCWYRTPTKPSSLNNQLVSVDCKKGTRVQVDSSQRMLRIAEPDARFSGFYS
MQKQNHLQADNFYQTV
Sequence length 1036
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME GWAS catalog, Orphanet
GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRIM1-related disorder Likely benign; Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31301086
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 23967269
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 23967269
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary atresia Pubtator 40665272 Associate
★☆☆☆☆
Found in Text Mining only
Cancer Pain Cancer Pubtator 27456940 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35484574 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 29607933 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 27803996
★☆☆☆☆
Found in Text Mining only
Colobomatous macrophthalmia-microcornea syndrome Macrophthalmia, colobomatous, with microcornea Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects Congenital heart defects BEFREE 26821812
★☆☆☆☆
Found in Text Mining only