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

    Gene ID: 51232, updated on 5-Mar-2024

    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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    Location:
    2p22.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (36355778..36551135)
    RS_2023_10 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 ribosomal protein L21 pseudogene 36 Neighboring gene meiotic recombination hotspot M Neighboring gene Sharpr-MPRA regulatory region 8328 Neighboring gene uncharacterized LOC124907753 Neighboring gene CRIM1 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:36607886-36608402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:36609434-36609948 Neighboring gene uncharacterized LOC124905989 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:36676488-36677687 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:36685741-36686420 Neighboring gene Sharpr-MPRA regulatory region 272 Neighboring gene Sharpr-MPRA regulatory region 355 Neighboring gene Sharpr-MPRA regulatory region 14108 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:36734536-36735080 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:36788221-36789420 Neighboring gene fasciculation and elongation protein zeta 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:36824452-36825379 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:36825380-36826306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:36827234-36828159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15576 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 (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing of long non-coding RNA SDCBP2-AS1/microRNA-656-3p/CRIM1 axis promotes ferroptosis of lung cancer cells.
      Title: Silencing of long non-coding RNA SDCBP2-AS1/microRNA-656-3p/CRIM1 axis promotes ferroptosis of lung cancer cells.
    2. CircCRIM1 mediates proliferation, migration, and invasion of trophoblast cell through regulating miR-942-5p/IL1RAP axis.
      Title: CircCRIM1 mediates proliferation, migration, and invasion of trophoblast cell through regulating miR-942-5p/IL1RAP axis.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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 
    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 membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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
      Q2M2G4, Q59GH0, Q7LCQ5, Q9H318, 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: GCF_000001405.40-RS_2023_10

    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

      UniProtKB/TrEMBL
      Q4ZG85
      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)

    mRNA and Protein(s)

    1. XM_054342406.1 → XP_054198381.1  cysteine-rich motor neuron 1 protein isoform X1

    2. XM_054342407.1 → XP_054198382.1  cysteine-rich motor neuron 1 protein isoform X2

    3. XM_054342408.1 → XP_054198383.1  cysteine-rich motor neuron 1 protein isoform X3

    4. XM_054342409.1 → XP_054198384.1  cysteine-rich motor neuron 1 protein isoform X4

    5. XM_054342411.1 → XP_054198386.1  cysteine-rich motor neuron 1 protein isoform X6

    6. XM_054342412.1 → XP_054198387.1  cysteine-rich motor neuron 1 protein isoform X7

    7. XM_054342413.1 → XP_054198388.1  cysteine-rich motor neuron 1 protein isoform X8

    8. XM_054342410.1 → XP_054198385.1  cysteine-rich motor neuron 1 protein isoform X5

    9. XM_054342414.1 → XP_054198389.1  cysteine-rich motor neuron 1 protein isoform X9

    10. XM_054342415.1 → XP_054198390.1  cysteine-rich motor neuron 1 protein isoform X10

    11. XM_054342416.1 → XP_054198391.1  cysteine-rich motor neuron 1 protein isoform X12

    RNA

    1. XR_008486389.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZV1.1 GenPept UniProtKB/Swiss-Prot:Q9NZV1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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