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

Gene ID: 64478, updated on 13-Jan-2015
Official Symbol
CSMD1provided by HGNC
Official Full Name
CUB and Sushi multiple domains 1provided by HGNC
Primary source
HGNC:HGNC:14026
Locus tag
UNQ5952/PRO19863
See related
Ensembl:ENSG00000183117; HPRD:10523; 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
See CSMD1 in Epigenomics, MapViewer
Location:
8p23.2
Exon count:
70
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (2935353..4994806, 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 LOC101927815 Neighboring gene uncharacterized LOC101927815 Neighboring gene RNA, 5S ribosomal pseudogene 251 Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4 Neighboring gene ribosomal L24 domain containing 1 pseudogene 7 Neighboring gene ribosomal protein L23a pseudogene 54

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of behavioral disinhibition.
NHGRI GWA Catalog
Common genetic variation and performance on standardized cognitive tests.
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 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
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
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
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
CUB and sushi domain-containing protein 1
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
    UniProtKB/TrEMBL
    Q59FF8
    UniProtKB/Swiss-Prot
    Q96PZ7
    Related
    ENSP00000441462, ENST00000537824
    Conserved Domains (3) 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
    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.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    2935353..4994806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

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

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    2576730..4633499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)