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

Gene ID: 64478, updated on 22-Sep-2022

Summary

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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 2.2), testis (RPKM 1.7) and 5 other tissues See more
Orthologs
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Genomic context

See CSMD1 in Genome Data Viewer
Location:
8p23.2
Exon count:
73
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (2935361..4994914, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (2689262..4747707, complement)
105.20220307 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 uncharacterized LOC105377785 Neighboring gene Sharpr-MPRA regulatory region 746 Neighboring gene uncharacterized LOC124901871 Neighboring gene Sharpr-MPRA regulatory region 9194 Neighboring gene uncharacterized LOC105377791 Neighboring gene RNA, 5S ribosomal pseudogene 251 Neighboring gene uncharacterized LOC105377790 Neighboring gene meiotic recombination hotspot CF Neighboring gene Sharpr-MPRA regulatory region 9772 Neighboring gene uncharacterized LOC105377789 Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4 Neighboring gene uncharacterized LOC107986907 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene ribosomal L24 domain containing 1 pseudogene 7

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-10-24)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2018-10-24)

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_033225.6NP_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
    Q96PZ7, Q96RM4
    UniProtKB/TrEMBL
    A0A0U1RQY1, Q59FF8
    Related
    ENSP00000489225.1, ENST00000635120.2
    Conserved Domains (4) summary
    cd00033
    Location:527581
    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)
    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.
    cl27761
    Location:26192855
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011534752.3XP_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_011534753.4XP_011533055.1  CUB and sushi domain-containing protein 1 isoform X3

    Related
    ENSP00000334828.6, ENST00000335551.11
    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_011534754.2XP_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_017013731.2XP_016869220.1  CUB and sushi domain-containing protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

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