CSMD1 - CUB and Sushi multiple domains 1 Gene

Homo sapiens

Also known as PPP1R24

Gene ID: 64478 | Gene type: protein coding

About CSMD1

Cytogenetic location: 8p23.2 Genomic coordinates (GRCh38): 8:2,935,361-4,994,914 (from NCBI)

This gene has 17 transcripts (splice variants), 211 orthologues and 39 paralogues. Biased expression in brain (RPKM 2.2), testis (RPKM 1.7) and 5 other tissues.

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]

CSMD1 Products(1)

mRNA	Protein	Name
NM_033225.6	NP_150094.5	CUB and sushi domain-containing protein 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22538441	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CSMD1 Protein Structure

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

CUB

Sushi

0
600
1200
1800
2400
3000
3564 a.a.

Protein Preferred Names

Protein Names

CUB and sushi domain-containing protein 1

protein phosphatase 1, regulatory subunit 24

CSMD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CSMD1	Q96PZ7	SMAD3	Homo sapiens	P84022	Anti Bait CoIP	22538441
Intra	CSMD1	Q96PZ7	SMAD3	Homo sapiens	P84022	Anti Tag CoIP	22538441
Intra	CSMD1	Q96PZ7	SMAD3	Homo sapiens	P84022	IF	22538441

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Vallecula Cancer

Malignant Tumor Of Vallecula

Cannabis Dependence

Marijuana Abuse	Cannabinoid Addiction
Cannabinoid Dependence	Cannabis Addiction

Hallucinogen Dependence

Hallucinogen Addiction

Autosomal Dominant Intellectual Developmental Disorder 8

Autosomal Dominant Non-Syndromic Intellectual Disability 8	Mental Retardation, Autosomal Dominant 8
Autosomal Dominant Mental Retardation 8	Mrd8

Smallpox

Variola	Ordinary Smallpox
Alastrim	Amaas

Bipolar Disorder

Bipolar Depression	Manic Disorder
Depression, Bipolar	Bipolar Disorder Manic Phase
Depressive-Manic Psych.	Manic Bipolar Affective Disorder
Manic Bipolar I Disorder	Manic Depression
Manic Depressive Disorder	Mixed Bipolar Disorder
Bipolar Affective Disorder	Bipolar Affective Psychosis
Bipolar Spectrum Disorder	Manic Depressive Illness
Depression Bipolar	Bipolar Disorder, Mixed
Major Affective Disorder	Major Affective Disorder 1
Major Affective Disorder 2

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03239	CSMD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CSMD1	MGD	MGI:2137383
Bos taurus	CSMD1	VGNC	VGNC:59330
Canis familiaris	CSMD1	VGNC	VGNC:39662
Felis catus	CSMD1	VGNC	VGNC:61222
Rattus norvegicus	CSMD1	RGD	RGD:1305103
Macaca mulatta	CSMD1	VGNC	VGNC:71402

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