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    CSMD1 CUB and Sushi multiple domains 1 [ Homo sapiens (human) ]

    Gene ID: 64478, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CSMD1provided by HGNC
    Official Full Name
    CUB and Sushi multiple domains 1provided by HGNC
    Primary source
    HGNC:HGNC:14026
    See related
    Ensembl:ENSG00000183117 MIM:608397; AllianceGenome:HGNC:14026
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PPP1R24
    Summary
    Predicted to act upstream of or within several processes, including learning or memory; mammary gland branching involved in pregnancy; and reproductive structure development. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Biased expression in brain (RPKM 2.2), testis (RPKM 1.7) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CSMD1 in Genome Data Viewer
    Location:
    8p23.2
    Exon count:
    73
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (2935361..4994914, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (2689262..4747707, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (2792883..4852436, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3021 Neighboring gene uncharacterized LOC107986865 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:2547000-2547500 Neighboring gene uncharacterized LOC105377785 Neighboring gene Sharpr-MPRA regulatory region 12422 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2670718-2671218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2671219-2671719 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2734767-2735966 Neighboring gene Sharpr-MPRA regulatory region 746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:2743811-2744593 Neighboring gene uncharacterized LOC124901871 Neighboring gene Sharpr-MPRA regulatory region 9194 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:2842983-2843550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2883555-2884056 Neighboring gene NANOG hESC enhancer GRCh37_chr8:2916031-2916747 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:2928398-2928606 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:2964721-2965920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2990813-2991505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:3020562-3021062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:3021063-3021563 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:3025942-3027141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:3068799-3069337 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:3101495-3102167 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:3102841-3103512 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:3102168-3102840 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:3203901-3204560 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103217 Neighboring gene uncharacterized LOC105377791 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:3350221-3351420 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:3396011-3396511 Neighboring gene NANOG hESC enhancer GRCh37_chr8:3603183-3603684 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:3626209-3626796 Neighboring gene RNA, 5S ribosomal pseudogene 251 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:3705437-3706209 Neighboring gene uncharacterized LOC105377790 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:3923362-3924011 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:3995671-3995899 Neighboring gene meiotic recombination hotspot CF Neighboring gene Sharpr-MPRA regulatory region 9772 Neighboring gene uncharacterized LOC105377789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:4439891-4440392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:4712232-4712805 Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4 Neighboring gene uncharacterized LOC107986907 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:4985613-4986121 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene ribosomal L24 domain containing 1 pseudogene 7

    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. Neuropsychological effects of the CSMD1 genome-wide associated schizophrenia risk variant rs10503253. Donohoe G, et al. Genes Brain Behav, 2013 Mar. PMID 23320435
    2. Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion. Kamal M, et al. Oncol Rep, 2017 Jul. PMID 28534981
    3. Replicated association between the European GWAS locus rs10503253 at CSMD1 and schizophrenia in Asian population. Liu W, et al. Neurosci Lett, 2017 Apr 24. PMID 28344127
    4. Complement inhibitor CSMD1 acts as tumor suppressor in human breast cancer. Escudero-Esparza A, et al. Oncotarget, 2016 Nov 22. PMID 27764775, Free PMC Article
    5. No association between the rs10503253 polymorphism in the CSMD1 gene and schizophrenia in a Han Chinese population. Liu Y, et al. BMC Psychiatry, 2016 Jul 4. PMID 27377754, Free PMC Article

    See all (116) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
      Title: Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
    2. CSMD1 rs10503253 increases schizophrenia risk in a Tunisian population-group.
      Title: CSMD1 rs10503253 increases schizophrenia risk in a Tunisian population-group.
    3. CSMD1 regulates brain complement activity and circuit development.
      Title: CSMD1 regulates brain complement activity and circuit development.
    4. Tumor suppressor role of the complement inhibitor CSMD1 and its role in TNF-induced neuroinflammation in gliomas.
      Title: Tumor suppressor role of the complement inhibitor CSMD1 and its role in TNF-induced neuroinflammation in gliomas.
    5. The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases.
      Title: The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases.
    6. CSMD1 suppresses cancer progression by inhibiting proliferation, epithelial-mesenchymal transition, chemotherapy-resistance and inducing immunosuppression in esophageal squamous cell carcinoma.
      Title: CSMD1 suppresses cancer progression by inhibiting proliferation, epithelial-mesenchymal transition, chemotherapy-resistance and inducing immunosuppression in esophageal squamous cell carcinoma.
    7. New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.
      Title: New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.
    8. CSMD1 Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer.
      Title: CSMD1 Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer.
    9. Complement inhibitor CSMD1 modulates epidermal growth factor receptor oncogenic signaling and sensitizes breast cancer cells to chemotherapy.
      Title: Complement inhibitor CSMD1 modulates epidermal growth factor receptor oncogenic signaling and sensitizes breast cancer cells to chemotherapy.
    10. Inhibition of CUB and sushi multiple domains 1 (CSMD1) expression by miRNA-190a-3p enhances hypertrophic scar-derived fibroblast migration in vitro.
      Title: Inhibition of CUB and sushi multiple domains 1 (CSMD1) expression by miRNA-190a-3p enhances hypertrophic scar-derived fibroblast migration in vitro.
    Submit: New GeneRIF Correction See all GeneRIFs (59)

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-10-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-10-08)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog
    Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
    EBI GWAS Catalog
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    EBI GWAS Catalog
    Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
    EBI GWAS Catalog
    Genome-wide association study identifies five new schizophrenia loci.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study link novel loci to endometriosis.
    EBI GWAS Catalog
    Genome-wide association study of antibody response to smallpox vaccine.
    EBI GWAS Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog
    Genome-wide association study of serum selenium concentrations.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    EBI GWAS Catalog
    Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
    EBI GWAS Catalog
    Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
    EBI GWAS Catalog
    Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.
    EBI GWAS Catalog
    GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    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)

    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

    • KIAA1890

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in conditioned place preference IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in female gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mammary gland branching involved in pregnancy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oviduct epithelium development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in startle response IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    CUB and sushi domain-containing protein 1
    Names
    protein phosphatase 1, regulatory subunit 24

    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_033225.6 → NP_150094.5  CUB and sushi domain-containing protein 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AB209502, AC022068, AC022910, AC023296, AC105998, AC135324, AF333704, AK126857, BX107340, CD634856, D51420
      Consensus CDS
      CCDS55189.1
      UniProtKB/Swiss-Prot
      A0A0U1RQY1, Q0H0J5, Q96PZ7, Q96QU9, Q96RM4
      UniProtKB/TrEMBL
      E5RIG2
      Related
      ENSP00000489225.1, ENST00000635120.2
      Conserved Domains (4) summary
      cd00033
      Location:527 → 581
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:145 → 202
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:758 → 865
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl27761
      Location:2619 → 2855
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      2935361..4994914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534752.3 → XP_011533054.1  CUB and sushi domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      E5RIG2
      Conserved Domains (5) summary
      cd00033
      Location:2680 → 2734
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:145 → 202
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:2619 → 2855
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:758 → 865
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:2978 → 3032
      Sushi; Sushi repeat (SCR repeat)

    2. XM_011534753.4 → XP_011533055.1  CUB and sushi domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      H7BXU2, Q59FF8
      Related
      ENSP00000334828.6, ENST00000335551.11
      Conserved Domains (4) summary
      cd00033
      Location:1711 → 1765
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:1650 → 1886
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:482 → 587
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:2009 → 2063
      Sushi; Sushi repeat (SCR repeat)

    3. XM_011534754.2 → XP_011533056.1  CUB and sushi domain-containing protein 1 isoform X4

      Conserved Domains (4) summary
      cd00033
      Location:1354 → 1408
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:1293 → 1529
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:125 → 230
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:1652 → 1706
      Sushi; Sushi repeat (SCR repeat)

    4. XM_017013731.2 → XP_016869220.1  CUB and sushi domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      E5RIG2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      2689262..4747707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361009.1 → XP_054216984.1  CUB and sushi domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      E5RIG2

    2. XM_054361011.1 → XP_054216986.1  CUB and sushi domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      Q59FF8

    3. XM_054361012.1 → XP_054216987.1  CUB and sushi domain-containing protein 1 isoform X4

    4. XM_054361010.1 → XP_054216985.1  CUB and sushi domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      E5RIG2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PZ7.3 GenPept UniProtKB/Swiss-Prot:Q96PZ7

    Gene LinkOut

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