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

    Gene ID: 64478, updated on 24-Sep-2017
    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; Vega:OTTHUMG00000163605
    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
    Orthologs
    Location:
    8p23.2
    Exon count:
    73
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (2935353..4995035, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (2792875..4852328, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377785 Neighboring gene uncharacterized LOC105377787 Neighboring gene uncharacterized LOC105377786 Neighboring gene protein app1-like Neighboring gene uncharacterized LOC105377791 Neighboring gene RNA, 5S ribosomal pseudogene 251 Neighboring gene uncharacterized LOC105377790 Neighboring gene uncharacterized LOC105377789 Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4 Neighboring gene uncharacterized LOC107986907 Neighboring gene ribosomal L24 domain containing 1 pseudogene 7 Neighboring gene RNA, 7SL, cytoplasmic 318, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Clone Names

    • KIAA1890

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    CUB and sushi domain-containing protein 1
    Names
    protein phosphatase 1, regulatory subunit 24

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

      Status: VALIDATED

      Source sequence(s)
      AB209502, AC022068, AC022910, AC023296, AC135324, AF333704, AK126857, BX107340, CD634856, D51420
      Consensus CDS
      CCDS55189.1
      UniProtKB/Swiss-Prot
      Q96PZ7
      UniProtKB/TrEMBL
      A0A0U1RQY1, Q59FF8
      Related
      ENSP00000489225.1, OTTHUMP00000281551, ENST00000635120.1, OTTHUMT00000488633
      Conserved Domains (5) summary
      cd00033
      Location:26802734
      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:145202
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:26192855
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:758865
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:29783032
      Sushi; Sushi repeat (SCR repeat)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      2935353..4995035 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534752.2XP_011533054.1  CUB and sushi domain-containing protein 1 isoform X1

      Conserved Domains (5) summary
      cd00033
      Location:26802734
      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:145202
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:26192855
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:758865
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:29783032
      Sushi; Sushi repeat (SCR repeat)
    2. XM_011534753.2XP_011533055.1  CUB and sushi domain-containing protein 1 isoform X3

      Related
      ENSP00000334828.6, OTTHUMP00000224497, ENST00000335551.11, OTTHUMT00000374654
      Conserved Domains (4) summary
      cd00033
      Location:17111765
      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:16501886
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:482587
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:20092063
      Sushi; Sushi repeat (SCR repeat)
    3. XM_011534754.1XP_011533056.1  CUB and sushi domain-containing protein 1 isoform X4

      Conserved Domains (4) summary
      cd00033
      Location:13541408
      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:12931529
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:125230
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:16521706
      Sushi; Sushi repeat (SCR repeat)
    4. XM_017013731.1XP_016869220.1  CUB and sushi domain-containing protein 1 isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      2881464..4940977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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