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 factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010] See more...

Aliases for CRIM1 Gene

Aliases for CRIM1 Gene

  • Cysteine Rich Transmembrane BMP Regulator 1 2 3 5
  • Cysteine Rich Transmembrane BMP Regulator 1 (Chordin-Like) 2 3
  • Cysteine-Rich Repeat-Containing Protein S52 3 4
  • Cysteine-Rich Motor Neuron 1 Protein 3 4
  • CRIM-1 3 4
  • S52 3 4
  • Cysteine-Rich Motor Neuron 1 2
  • CRIM1 5

External Ids for CRIM1 Gene

Previous HGNC Symbols for CRIM1 Gene

  • S52

Previous GeneCards Identifiers for CRIM1 Gene

  • GC02P036548
  • GC02P036730
  • GC02P036557
  • GC02P036495
  • GC02P036324
  • GC02P036583

Summaries for CRIM1 Gene

Entrez Gene Summary for CRIM1 Gene

  • 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 factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]

GeneCards Summary for CRIM1 Gene

CRIM1 (Cysteine Rich Transmembrane BMP Regulator 1) is a Protein Coding gene. Diseases associated with CRIM1 include Macrophthalmia, Colobomatous, With Microcornea and Spinal Muscular Atrophy, Type Iv. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and enzyme inhibitor activity. An important paralog of this gene is OTOG.

UniProtKB/Swiss-Prot Summary for CRIM1 Gene

  • 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 processing and delivery to the cell surface.

Gene Wiki entry for CRIM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CRIM1 Gene

Genomics for CRIM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CRIM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J036353 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 602.7 +2.3 2253 11.3 GATAD2A CTCF ATF7 PRDM10 TFE3 SOX13 RCOR2 FOXA1 PRDM1 ZIC2 CRIM1 HSALNG0014195 CRIM1-DT FEZ2 lnc-VIT-3
GH02J036481 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19 +132.5 132523 13.4 CEBPG GATAD2A REST RCOR2 FOXA1 RXRB SP1 CEBPA SOX13 CEBPB CRIM1 FEZ2 VIT RF00994-475 ENSG00000273090 L13712-015
GH02J036448 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +100.6 100613 15.2 GATAD2A CTCF LEF1 IKZF1 RCOR2 JUND PKNOX1 RXRB REST IRF2 CRIM1 CRIM1-DT HEATR5B RF00994-475 L13712-015 FEZ2
GH02J036391 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.5 +39.6 39622 8.4 GATAD2A ATF7 ZNF629 SOX13 PATZ1 REST ZNF600 CEBPA SCRT2 CEBPB CRIM1 CRIM1-DT lnc-VIT-3 L13712-015 FEZ2
GH02J036596 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 +241.8 241822 2.8 GATAD2A TFE3 POLR2A ZNF143 ZIC2 RBFOX2 RXRB SMAD5 IRF2 HDAC1 FEZ2 CRIM1 piR-36588-222 piR-48950-081 L13712-015
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRIM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CRIM1

Top Transcription factor binding sites by QIAGEN in the CRIM1 gene promoter:
  • AP-1
  • ATF-2
  • Brachyury
  • c-Jun
  • c-Rel
  • FOXL1
  • FOXO4
  • GATA-1
  • S8

Genomic Locations for CRIM1 Gene

Genomic Locations for CRIM1 Gene
chr2:36,355,778-36,551,135
(GRCh38/hg38)
Size:
195,358 bases
Orientation:
Plus strand
chr2:36,583,069-36,778,278
(GRCh37/hg19)
Size:
195,210 bases
Orientation:
Plus strand

Genomic View for CRIM1 Gene

Genes around CRIM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRIM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRIM1 Gene

Proteins for CRIM1 Gene

  • Protein details for CRIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZV1-CRIM1_HUMAN
    Recommended name:
    Cysteine-rich motor neuron 1 protein
    Protein Accession:
    Q9NZV1
    Secondary Accessions:
    • Q2M2G4
    • Q59GH0
    • Q7LCQ5
    • Q9H318

    Protein attributes for CRIM1 Gene

    Size:
    1036 amino acids
    Molecular mass:
    113738 Da
    Quaternary structure:
    • Interacts with BMP4 and BMP7.
    SequenceCaution:
    • Sequence=BAD92376.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for CRIM1 Gene

Post-translational modifications for CRIM1 Gene

  • N-glycosylated.
  • Glycosylation at Asn71, Asn113, Asn330, Asn474, Ser596, Ser598, and Asn746
  • Ubiquitination at Lys978
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CRIM1 Gene

Domains & Families for CRIM1 Gene

Gene Families for CRIM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CRIM1 Gene

Suggested Antigen Peptide Sequences for CRIM1 Gene

GenScript: Design optimal peptide antigens:
  • Cysteine-rich repeat-containing protein S52 (CRIM1_HUMAN)
genes like me logo Genes that share domains with CRIM1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CRIM1 Gene

Function for CRIM1 Gene

Molecular function for CRIM1 Gene

UniProtKB/Swiss-Prot 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 processing and delivery to the cell surface.

Phenotypes From GWAS Catalog for CRIM1 Gene

Gene Ontology (GO) - Molecular Function for CRIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity IEA --
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0005010 insulin-like growth factor-activated receptor activity TAS 10642437
GO:0005515 protein binding IEA --
GO:0005520 insulin-like growth factor binding IEA --
genes like me logo Genes that share ontologies with CRIM1: view
genes like me logo Genes that share phenotypes with CRIM1: view

Animal Models for CRIM1 Gene

MGI Knock Outs for CRIM1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CRIM1

CRISPR Products

miRNA for CRIM1 Gene

miRTarBase miRNAs that target CRIM1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRIM1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CRIM1 Gene

Localization for CRIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRIM1 Gene

[Processed cysteine-rich motor neuron 1 protein]: Secreted.
Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRIM1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for CRIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
genes like me logo Genes that share ontologies with CRIM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CRIM1 Gene

Pathways & Interactions for CRIM1 Gene

PathCards logo

SuperPathways for CRIM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IEA --
GO:0007399 nervous system development TAS 10642437
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0043086 negative regulation of catalytic activity IEA --
GO:0048009 insulin-like growth factor receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with CRIM1: view

No data available for Pathways by source and SIGNOR curated interactions for CRIM1 Gene

Drugs & Compounds for CRIM1 Gene

No Compound Related Data Available

Transcripts for CRIM1 Gene

mRNA/cDNA for CRIM1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRIM1

Alternative Splicing Database (ASD) splice patterns (SP) for CRIM1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
SP1: - - - - -
SP2:
SP3: - -
SP4: - - - -
SP5:
SP6:

ExUns: 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for CRIM1 Gene

GeneLoc Exon Structure for
CRIM1

Expression for CRIM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CRIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRIM1 Gene

This gene is overexpressed in Artery - Tibial (x4.4).

Protein differential expression in normal tissues from HIPED for CRIM1 Gene

This gene is overexpressed in Amniocyte (65.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CRIM1 Gene



Protein tissue co-expression partners for CRIM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CRIM1

SOURCE GeneReport for Unigene cluster for CRIM1 Gene:

Hs.699247

mRNA Expression by UniProt/SwissProt for CRIM1 Gene:

Q9NZV1-CRIM1_HUMAN
Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, lung, placenta, brain, heart, spleen, liver and small intestine. Expressed in blood vessels (at protein level).

Evidence on tissue expression from TISSUES for CRIM1 Gene

  • Nervous system(4.6)
  • Muscle(2.8)
  • Heart(2.8)
  • Kidney(2.8)
  • Skin(2.4)
  • Lung(2.4)
  • Eye(2.4)
  • Intestine(2)
genes like me logo Genes that share expression patterns with CRIM1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CRIM1 Gene

Orthologs for CRIM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CRIM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CRIM1 30 31
  • 98.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CRIM1 30 31
  • 91.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CRIM1 30 31
  • 89.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Crim1 30
  • 87.93 (n)
Mouse
(Mus musculus)
Mammalia Crim1 30 17 31
  • 87.81 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CRIM1 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CRIM1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CRIM1 30 31
  • 79.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CRIM1 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488895 30
  • 75.78 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12291 30
Zebrafish
(Danio rerio)
Actinopterygii crim1 30 31
  • 69.54 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea crm-1 30 31
  • 48.25 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToOne
Species where no ortholog for CRIM1 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)
  • 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 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)

Evolution for CRIM1 Gene

ENSEMBL:
Gene Tree for CRIM1 (if available)
TreeFam:
Gene Tree for CRIM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CRIM1: view image

Paralogs for CRIM1 Gene

(1) SIMAP similar genes for CRIM1 Gene using alignment to 7 proteins:

  • CRIM1_HUMAN
  • H7C1Z0_HUMAN
  • H7C2T6_HUMAN
  • H7C458_HUMAN
  • Q4ZG85_HUMAN
  • Q53TH9_HUMAN
  • Q53TR0_HUMAN
genes like me logo Genes that share paralogs with CRIM1: view

Variants for CRIM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CRIM1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
708457 Benign: not provided 36,356,616(+) T/C SYNONYMOUS_VARIANT
710585 Likely Benign: not provided 36,537,489(+) C/T MISSENSE_VARIANT
712501 Benign: not provided 36,479,528(+) C/G SYNONYMOUS_VARIANT
712502 Benign: not provided 36,548,576(+) A/G MISSENSE_VARIANT
721608 Likely Benign: not provided 36,441,430(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CRIM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CRIM1 Gene

Variant ID Type Subtype PubMed ID
esv1790942 CNV deletion 17803354
esv2536024 CNV deletion 19546169
esv2664333 CNV deletion 23128226
esv2719922 CNV deletion 23290073
esv2759040 CNV loss 17122850
esv2759041 CNV gain 17122850
esv3575231 CNV gain 25503493
esv3590393 CNV loss 21293372
nsv213151 CNV deletion 16902084
nsv2680 CNV insertion 18451855
nsv476068 CNV novel sequence insertion 20440878
nsv581468 CNV loss 21841781
nsv833803 CNV gain 17160897
nsv955053 CNV deletion 24416366

Variation tolerance for CRIM1 Gene

Residual Variation Intolerance Score: 13.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.11; 69.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRIM1 Gene

Human Gene Mutation Database (HGMD)
CRIM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRIM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRIM1 Gene

Disorders for CRIM1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CRIM1 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
macrophthalmia, colobomatous, with microcornea
  • macom
spinal muscular atrophy, type iv
  • sma4
amyloidosis, hereditary, transthyretin-related
  • hereditary amyloidosis, transthyretin-related
- elite association - COSMIC cancer census association via MalaCards
Search CRIM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CRIM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CRIM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CRIM1 Gene

Publications for CRIM1 Gene

  1. CRIM1 regulates the rate of processing and delivery of bone morphogenetic proteins to the cell surface. (PMID: 12805376) Wilkinson L … Little M (The Journal of biological chemistry 2003) 3 4 23
  2. CRIM1, a novel gene encoding a cysteine-rich repeat protein, is developmentally regulated and implicated in vertebrate CNS development and organogenesis. (PMID: 10642437) Kolle G … Yamada T (Mechanisms of development 2000) 2 3 4
  3. 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
  4. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PMID: 19260139) Polasek O … Rudan I (Croatian medical journal 2009) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for CRIM1 Gene

  • Signalway ELISA kits for CRIM1

Sources for CRIM1 Gene