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CRIM1 cysteine rich transmembrane BMP regulator 1 [ Homo sapiens (human) ]

Gene ID: 51232, updated on 22-May-2022

Summary

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Official Symbol
CRIM1provided by HGNC
Official Full Name
cysteine rich transmembrane BMP regulator 1provided by HGNC
Primary source
HGNC:HGNC:2359
See related
Ensembl:ENSG00000150938 MIM:606189; AllianceGenome:HGNC:2359
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
S52; CRIM-1
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 factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]
Expression
Broad expression in placenta (RPKM 93.7), fat (RPKM 55.7) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See CRIM1 in Genome Data Viewer
Location:
2p22.2
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (36355778..36551135)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (36362433..36557798)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (36582921..36778278)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene meiotic recombination hotspot M Neighboring gene Sharpr-MPRA regulatory region 8328 Neighboring gene uncharacterized LOC124907753 Neighboring gene CRIM1 divergent transcript Neighboring gene uncharacterized LOC124905989 Neighboring gene Sharpr-MPRA regulatory region 272 Neighboring gene Sharpr-MPRA regulatory region 355 Neighboring gene Sharpr-MPRA regulatory region 14108 Neighboring gene fasciculation and elongation protein zeta 2 Neighboring gene RACK1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Homozygote CRIM1 variant is associated with thiopurine-induced neutropenia in leukemic patients with both wildtype NUDT15 and TPMT. Park Y, et al. J Transl Med, 2020 Jul 1. PMID 32611418, Free PMC Article
  2. A novel role for CRIM1 in the corneal response to UV and pterygium development. Maurizi E, et al. Exp Eye Res, 2019 Feb. PMID 30365943
  3. Reduction of Membrane Protein CRIM1 Decreases E-Cadherin and Increases Claudin-1 and MMPs, Enhancing the Migration and Invasion of Renal Carcinoma Cells. Ogasawara N, et al. Biol Pharm Bull, 2018. PMID 29607933
  4. CRIM1, a newfound cancer-related player, regulates the adhesion and migration of lung cancer cells. Zeng H, et al. Growth Factors, 2015. PMID 26653968
  5. Inhibition of the proliferation and acceleration of migration of vascular endothelial cells by increased cysteine-rich motor neuron 1. Nakashima Y, et al. Biochem Biophys Res Commun, 2015 Jul 3. PMID 25956066

See all (40) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Homozygote CRIM1 variant is associated with thiopurine-induced neutropenia in leukemic patients with both wildtype NUDT15 and TPMT.
    Title: Homozygote CRIM1 variant is associated with thiopurine-induced neutropenia in leukemic patients with both wildtype NUDT15 and TPMT.
  2. We propose here a series of intracellular events where CRIM1 regulation of the ERK pathway prevents UV-induced cell proliferation and may play an important role in the in the pathogenesis of pterygium.
    Title: A novel role for CRIM1 in the corneal response to UV and pterygium development.
  3. CRIM1 regulates the expression of several epithelial-mesenchymal transition (EMT) related factors and appears to play a role in suppressing migration and invasion through control of EMT.
    Title: Reduction of Membrane Protein CRIM1 Decreases E-Cadherin and Increases Claudin-1 and MMPs, Enhancing the Migration and Invasion of Renal Carcinoma Cells.
  4. these findings implicate CRIM1 in endothelial cell development and homeostasis in the coronary vasculature.
    Title: CRIM1 is necessary for coronary vascular endothelial cell development and homeostasis.
  5. These observations provide evidence for the first time that CRIM1 plays a role in cancer cells by enhancing the migration and adhesion and increasing the expression of N-CAD and E-CAD.
    Title: CRIM1, a newfound cancer-related player, regulates the adhesion and migration of lung cancer cells.
  6. CRIM1 is the causative gene for Colobomatous macrophthalmia with microcornea syndrome and is important for eye development.
    Title: CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
  7. Knock down of CRIM1 had no effect on VEGF-induced proliferation or migration of umbilical vein endothelial cells (HUVECs), indicating that basal CRIM1 is not involved in the proliferation or migration of endothelial cells.
    Title: Inhibition of the proliferation and acceleration of migration of vascular endothelial cells by increased cysteine-rich motor neuron 1.
  8. Data suggest that CRIM1 plays role in cancer progression/metastasis, epithelial-mesenchymal transition, and neoplastic angiogenesis. [REVIEW]
    Title: CRIM1, the antagonist of BMPs, is a potential risk factor of cancer.
  9. BMPs inhibitor CRIM1 is increased and correlates with higher levels of serum PIPIII showing an imbalance in favor of pro-fibrotic mechanisms in CHF.
    Title: Fibrosis markers and CRIM1 increase in chronic heart failure of increasing severity.
  10. CRIM1 is an early response gene in the presence of both angiogenic stimulation (VEGF) and environmental (extracellular matrix) factors, and Erk and FAK might be involved in the upregulation of CRIM1 mRNA expression in vascular endothelial cells.
    Title: Induction of cysteine-rich motor neuron 1 mRNA expression in vascular endothelial cells.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of total serum and mite-specific IgEs in asthma patients.
EBI GWAS Catalog
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of cysteine rich transmembrane BMP regulator 1 (CRIM1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC138194

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables PDZ domain binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables insulin-like growth factor receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in insulin-like growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within negative regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of negative regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
cysteine-rich motor neuron 1 protein
Names
cysteine rich transmembrane BMP regulator 1 (chordin-like)
cysteine-rich repeat-containing protein S52

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_016441.3 → NP_057525.1  cysteine-rich motor neuron 1 protein precursor

    See identical proteins and their annotated locations for NP_057525.1

    Status: REVIEWED

    Source sequence(s)
    AB209139, AC009414, AF167706
    Consensus CDS
    CCDS1783.1
    UniProtKB/Swiss-Prot
    Q9NZV1
    Related
    ENSP00000280527.2, ENST00000280527.7
    Conserved Domains (4) summary
    smart00214
    Location:403 → 456
    VWC; von Willebrand factor (vWF) type C domain
    pfam00219
    Location:39 → 90
    IGFBP; Insulin-like growth factor binding protein
    pfam02822
    Location:567 → 592
    Antistasin; Antistasin family
    cl17735
    Location:683 → 734
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    36355778..36551135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532898.4 → XP_011531200.1  cysteine-rich motor neuron 1 protein isoform X1

    Conserved Domains (4) summary
    smart00214
    Location:444 → 497
    VWC; von Willebrand factor (vWF) type C domain
    pfam00219
    Location:39 → 90
    IGFBP; Insulin-like growth factor binding protein
    pfam02822
    Location:608 → 633
    Antistasin; Antistasin family
    cl17735
    Location:724 → 775
    VWC; von Willebrand factor type C domain

  2. XM_011532899.4 → XP_011531201.1  cysteine-rich motor neuron 1 protein isoform X2

    Conserved Domains (4) summary
    smart00214
    Location:444 → 497
    VWC; von Willebrand factor (vWF) type C domain
    pfam00219
    Location:39 → 90
    IGFBP; Insulin-like growth factor binding protein
    pfam02822
    Location:608 → 633
    Antistasin; Antistasin family
    cl17735
    Location:724 → 775
    VWC; von Willebrand factor type C domain

  3. XM_011532901.4 → XP_011531203.1  cysteine-rich motor neuron 1 protein isoform X3

    Conserved Domains (4) summary
    smart00214
    Location:444 → 497
    VWC; von Willebrand factor (vWF) type C domain
    pfam00219
    Location:39 → 90
    IGFBP; Insulin-like growth factor binding protein
    pfam02822
    Location:608 → 633
    Antistasin; Antistasin family
    cl17735
    Location:724 → 775
    VWC; von Willebrand factor type C domain

  4. XM_017004258.3 → XP_016859747.1  cysteine-rich motor neuron 1 protein isoform X4

  5. XM_017004259.2 → XP_016859748.1  cysteine-rich motor neuron 1 protein isoform X6

  6. XM_047444642.1 → XP_047300598.1  cysteine-rich motor neuron 1 protein isoform X7

  7. XM_017004260.3 → XP_016859749.1  cysteine-rich motor neuron 1 protein isoform X8

  8. XM_005264357.6 → XP_005264414.1  cysteine-rich motor neuron 1 protein isoform X5

    Conserved Domains (4) summary
    smart00214
    Location:345 → 398
    VWC; von Willebrand factor (vWF) type C domain
    pfam00219
    Location:39 → 90
    IGFBP; Insulin-like growth factor binding protein
    pfam02822
    Location:509 → 534
    Antistasin; Antistasin family
    cl17735
    Location:625 → 676
    VWC; von Willebrand factor type C domain

  9. XM_047444643.1 → XP_047300599.1  cysteine-rich motor neuron 1 protein isoform X9

  10. XM_047444644.1 → XP_047300600.1  cysteine-rich motor neuron 1 protein isoform X10

  11. XM_024452948.2 → XP_024308716.1  cysteine-rich motor neuron 1 protein isoform X11

    Conserved Domains (3) summary
    smart00214
    Location:245 → 298
    VWC; von Willebrand factor (vWF) type C domain
    pfam02822
    Location:409 → 434
    Antistasin; Antistasin family
    cl17735
    Location:525 → 576
    VWC; von Willebrand factor type C domain

  12. XM_047444645.1 → XP_047300601.1  cysteine-rich motor neuron 1 protein isoform X12

RNA

  1. XR_007076383.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315908.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    6693..7538 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    36362433..36557798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NZV1.1 GenPept UniProtKB/Swiss-Prot:Q9NZV1

Gene LinkOut

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