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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
  • CRIM-1 3 4
  • S52 3 4
  • Cysteine-Rich Motor Neuron 1 Protein 3
  • Cysteine-Rich Motor Neuron 1 2

External Ids for CRIM1 Gene

Previous HGNC Symbols for CRIM1 Gene

  • S52

Previous GeneCards Identifiers for CRIM1 Gene

  • GC02P036548
  • GC02P036730
  • GC02P036557
  • GC02P036495
  • 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. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and enzyme inhibitor activity. An important paralog of this gene is KCP.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for CRIM1 Gene

Genomics for CRIM1 Gene

Regulatory Elements for CRIM1 Gene

Enhancers for CRIM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G036481 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19 +132.0 131996 11.8 FOXA2 SIN3A DMAP1 GATA2 FOS DEK NFYC PPARG KAT8 SSRP1 CRIM1 FEZ2 VIT ENSG00000273090 GC02P036388
GH02G036448 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +100.5 100547 15.1 FOXA2 PKNOX1 ATF1 ZNF133 ZFP64 ARID4B SIN3A DMAP1 ETS1 TCF12 CRIM1 LOC100288911 HEATR5B ENSG00000273090 GC02P036388
GH02G036437 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.7 +84.6 84632 6.2 ELF3 CTCF ESRRA JUN ZSCAN4 SIN3A CEBPG RAD21 GATA2 SCRT2 CRIM1 LOC100288911 GC02P036388 ENSG00000273090
GH02G036432 1.5 Ensembl ENCODE dbSUPER 18.7 +78.1 78089 2.5 FOXA2 ATF1 MLX ARID4B ZNF48 SLC30A9 FOS SP5 JUNB MXD4 CRIM1 LOC100288911 GC02P036388 ENSG00000273090
GH02G036402 1.5 Ensembl ENCODE dbSUPER 18.3 +53.1 53086 13.1 HDGF PKNOX1 SIN3A FEZF1 ZNF2 GLIS2 GATA2 FOS ZNF263 ZHX2 CRIM1 ENSG00000272054 LOC100288911 PRKD3 GC02P036388 ENSG00000273090
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRIM1 on UCSC Golden Path with GeneCards custom track

Promoters for CRIM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000115221 1229 4401 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 ZNF2 ZNF48 SLC30A9 GLIS2

Genomic Location for CRIM1 Gene

Chromosome:
2
Start:
36,355,771 bp from pter
End:
36,551,135 bp from pter
Size:
195,365 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.
  • Ubiquitination at Lys978
  • Glycosylation at isoforms=71, isoforms=113, isoforms=330, isoforms=474, Ser596, and isoforms=746
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CRIM1 Gene

Domains & Families for CRIM1 Gene

Protein Domains for CRIM1 Gene

Suggested Antigen Peptide Sequences for CRIM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CRIM1: view

No data available for Gene Families 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.

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:0005520 insulin-like growth factor binding IEA --
GO:0030165 PDZ domain binding IDA 23209302
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

Clone Products

Flow Cytometry Products

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
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

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 --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CRIM1: view

Pathways & Interactions for CRIM1 Gene

SuperPathways for CRIM1 Gene

No Data Available

Interacting Proteins for CRIM1 Gene

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

Transcripts for CRIM1 Gene

Unigene Clusters for CRIM1 Gene

Cysteine rich transmembrane BMP regulator 1 (chordin-like):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
CRIM1

Expression for CRIM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CRIM1 Gene



Protein tissue co-expression partners for CRIM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRIM1 Gene:

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(4.4)
  • Kidney(2.5)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with CRIM1: view

Primer Products

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 34 35
  • 98.88 (n)
dog
(Canis familiaris)
Mammalia CRIM1 34 35
  • 91.28 (n)
cow
(Bos Taurus)
Mammalia CRIM1 34 35
  • 89.31 (n)
rat
(Rattus norvegicus)
Mammalia Crim1 34
  • 87.93 (n)
mouse
(Mus musculus)
Mammalia Crim1 34 16 35
  • 87.81 (n)
oppossum
(Monodelphis domestica)
Mammalia CRIM1 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRIM1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRIM1 34 35
  • 79.7 (n)
lizard
(Anolis carolinensis)
Reptilia CRIM1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488895 34
  • 75.78 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12291 34
zebrafish
(Danio rerio)
Actinopterygii crim1 34 35
  • 69.54 (n)
worm
(Caenorhabditis elegans)
Secernentea crm-1 34 35
  • 48.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for CRIM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CRIM1 Gene

Paralogs for CRIM1 Gene

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

genes like me logo Genes that share paralogs with CRIM1: view

Variants for CRIM1 Gene

Sequence variations from dbSNP and Humsavar for CRIM1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000001620 -- 36,434,235(+) ATCAC(A/G)TGATA intron-variant
rs1000001808 -- 36,545,297(+) AGTCA(A/G)ATTCC intron-variant
rs1000019181 -- 36,450,984(+) CAGCC(A/G)AATGG intron-variant
rs1000020188 -- 36,543,137(+) GCAAC(A/C)AGATA intron-variant
rs1000022339 -- 36,400,481(+) ACCTC(C/T)GTGTG intron-variant

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)

Relevant External Links for CRIM1 Gene

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

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

Disorders for CRIM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CRIM1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
macrophthalmia, colobomatous, with microcornea
  • colobomatous macrophthalmia-microcornea syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CRIM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CRIM1

Genetic Association Database (GAD)
CRIM1
Human Genome Epidemiology (HuGE) Navigator
CRIM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRIM1
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.H. (J. Biol. Chem. 2003) 3 4 22 64
  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.V. … Yamada T. (Mech. Dev. 2000) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PMID: 19260139) Polasek O. … Rudan I. (Croat. Med. J. 2009) 3 46 64
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4 64

Products for CRIM1 Gene

Sources for CRIM1 Gene

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