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

Gene ID: 64478, updated on 2-Nov-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, Nov 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 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)

Genotypes

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

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

  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

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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