CSMD1 CUB and Sushi multiple domains 1 [Homo sapiens] - Gene

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Summary

Official Symbol: CSMD1provided by HGNC
Official Full Name: CUB and Sushi multiple domains 1provided by HGNC
Primary source: 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; KIAA1890

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Genomic context

Location :: 8p23.2

Sequence :: Chromosome: 8; NC_000008.10 (2792875..4852328, complement)

See CSMD1 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

data demonstrate a significant role of complement control-related genes in the etiology of schizophrenia.
Title: The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia.
Reduction of CSMD1 expression significantly associated with high tumour grade and decreased overall survival in invasive ductal breast carcinoma
Title: Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma.
Consistent genetic factors for ATP2B1, CSK, ARSG and CSMD1 were present, which have been shown to be associated with high blood pressure and hypertension in two Korean cohorts.
Title: Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Characterization of CSMD1 in a large set of primary lung, head and neck, breast, and skin cancer tissues is reported.
Title: Characterization CSMD1 in a large set of primary lung, head and neck, breast and skin cancer tissues.
Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
Observational study of gene-disease association. (HuGE Navigator)
Title: Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Association analyses identify six new psoriasis susceptibility loci in the Chinese population.
CSMD1 mutations may play a role in the development of colorectal cancer.
Title: Somatic mutations to CSMD1 in colorectal adenocarcinomas.
Simple inactivation of CSMD1 may not explain the deletions observed in oropharyngeal squamous cell carcinoma and may call into question the role of this gene in head and neck carcinogenesis.
Title: The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis.

Submit: New GeneRIF Correction See all (19)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Common genetic variation and performance on standardized cognitive tests.

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.

Genome-wide Association Study Identifies BICD1 as a Susceptibility Gene for Emphysema.

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:122185	BioGRID:107076	BCL6		BioGRID	PubMed	Affinity Capture-MS

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: CUB and sushi domain-containing protein 1

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

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NCBI Reference Sequences (RefSeq)

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)

NM_033225.5 → NP_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/TrEMBL

F5GZ18

UniProtKB/TrEMBL

Q59FF8

UniProtKB/Swiss-Prot

Q96PZ7

Related

ENSP00000441462, ENST00000537824

Conserved Domains (4) summary

cd00041
Location:758 – 865
Blast Score: 293

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00033
Location:2680 – 2734
Blast Score: 164

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:3032 – 3271
Blast Score: 255

PHA02927; secreted complement-binding protein; Provisional

cl00043
Location:2432 – 2490
Blast Score: 105

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

2792875..4852328, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

2576730..4633499, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009428.4 (31791..167171)	None
genomic	AC009707.9 (26216..176192)	None
genomic	AC010941.6	None
genomic	AC012543.4 (13337..159696)	None
genomic	AC021523.8 (10013..170298)	None
genomic	AC022068.6 (12177..202042)	None
genomic	AC022846.9	None
genomic	AC022910.9 (10..180929)	None
genomic	AC023296.6 (83606..189531)	None
genomic	AC026991.9	None
genomic	AC027251.6 (20298..130376)	None
genomic	AC087367.3 (59567..133138)	None
genomic	AC087692.7 (17172..146548)	None
genomic	AC090875.9 (99892..165504)	None
genomic	AC103782.2	None
genomic	AC103826.2 (57223..75714)	None
genomic	AC105998.4 (7970..41941)	None
genomic	AC107945.4	None
genomic	AC113147.3	None
genomic	AC135324.4 (57631..77513)	None
genomic	AY407073.1	None
genomic	CH471153.1	EAW80463.1
		EAW80464.1
genomic	FJ695212.1	None
mRNA	AA889055.1	None
mRNA	AB067477.1	BAB67783.1
mRNA	AB209502.1	BAD92739.1
mRNA	AF333704.2	AAK73475.2
mRNA	AK126857.1	None
mRNA	AK126936.1	None
mRNA	AK127129.1	None
mRNA	AW293447.1	None
mRNA	AY017307.1	AAG52948.1
mRNA	AY358174.1	AAQ88541.1
mRNA	BP229721.1	None
mRNA	BX107340.1	None
mRNA	CD634856.1	None
mRNA	D51420.1	None
other-genetic	BC156304.1	AAI56305.1