SMC3 - structural maintenance of chromosomes 3 Gene

Homo sapiens

Also known as BAM; BMH; HCAP; CDLS3; CSPG6; SMC3L1

Gene ID: 9126 | Gene type: protein coding

About SMC3

Cytogenetic location: 10q25.2 Genomic coordinates (GRCh38): 10:110,567,695-110,606,048 (from NCBI)

This gene has 13 transcripts (splice variants), 213 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 37.2), bone marrow (RPKM 22.4) and 25 other tissues.

Summary

This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]

SMC3 Products(1)

mRNA	Protein	Name
NM_005445.4	NP_005436.1	structural maintenance of chromosomes protein 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-tubulin binding	IDA IDA: Inferred from direct assay	11590136	GOA
enables dynein complex binding	IDA IDA: Inferred from direct assay	11590136	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9506951	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	11590136	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	11590136	GOA
involved in regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	19907496	GOA
involved in sister chromatid cohesion	IMP IMP: Inferred from mutant phenotype	15917200	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	16682347	GOA
part of cohesin complex	IDA IDA: Inferred from direct assay	9789013	GOA
part of meiotic cohesin complex	IDA IDA: Inferred from direct assay	21242291	GOA
part of mitotic cohesin complex	IPI IPI: Inferred from physical interaction	23242214	GOA
located in mitotic spindle pole	IDA IDA: Inferred from direct assay	11590136	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	11590136	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

SMC3 Protein Structure

SMC_N

SMC_hinge

0
200
400
600
800
1000
1217 a.a.

Protein Preferred Names

Protein Names

structural maintenance of chromosomes protein 3

SMC protein 3

SMC3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SMC3	Q9UQE7	STAG2	Homo sapiens	Q8N3U4	Anti Tag CoIP	17962804
Intra	SMC3	Q9UQE7	STAG2	Homo sapiens	Q8N3U4	Anti Bait CoIP	18235444
Intra	SMC3	Q9UQE7	STAG2	Homo sapiens	Q8N3U4	Anti Bait CoIP	17113138
Intra	SMC3	Q9UQE7	STAG2	Homo sapiens	Q8N3U4	Anti Bait CoIP	17349791
Intra	SMC3	Q9UQE7	STAG2	Homo sapiens	Q8N3U4	Anti Tag CoIP	26496610
Intra	SMC3	Q9UQE7	STAG2	Homo sapiens	Q8N3U4	Density Sedimentation	15737063
Intra	SMC3	Q9UQE7	STAG1	Homo sapiens	Q8WVM7	Anti Bait CoIP	17113138
Intra	SMC3	Q9UQE7	STAG1	Homo sapiens	Q8WVM7	Anti Tag CoIP	17962804
Intra	SMC3	Q9UQE7	STAG1	Homo sapiens	Q8WVM7	Anti Bait CoIP	17349791
Intra	SMC3	Q9UQE7	STAG1	Homo sapiens	Q8WVM7	Anti Tag CoIP	26496610
Intra	SMC3	Q9UQE7	STAG1	Homo sapiens	Q8WVM7	Anti Bait CoIP	17112726
Intra	SMC3	Q9UQE7	PDS5A	Homo sapiens	Q29RF7	Anti Bait CoIP	17113138
Intra	SMC3	Q9UQE7	PDS5A	Homo sapiens	Q29RF7	Anti Bait CoIP	17349791
Intra	SMC3	Q9UQE7	PDS5B	Homo sapiens	Q9NTI5	Anti Bait CoIP	17113138
Intra	SMC3	Q9UQE7	PDS5B	Homo sapiens	Q9NTI5	Anti Bait CoIP	17349791
Intra	SMC3	Q9UQE7	SMC1A	Homo sapiens	Q14683	Anti Bait CoIP	17113138
Intra	SMC3	Q9UQE7	SMC1A	Homo sapiens	Q14683	Anti Bait CoIP	17112726
Intra	SMC3	Q9UQE7	SMC1A	Homo sapiens	Q14683	Anti Bait CoIP	17349791
Intra	SMC3	Q9UQE7	SMC1A	Homo sapiens	Q14683	Anti Bait CoIP	21111234
Intra	SMC3	Q9UQE7	SMC1A	Homo sapiens	Q14683	Anti Tag CoIP	26496610
Intra	SMC3	Q9UQE7	RAD21	Homo sapiens	O60216	Anti Bait CoIP	17113138
Intra	SMC3	Q9UQE7	RAD21	Homo sapiens	O60216	Anti Bait CoIP	17349791
Intra	SMC3	Q9UQE7	RAD21	Homo sapiens	O60216	Anti Bait CoIP	22885700
Intra	SMC3	Q9UQE7	RAD21	Homo sapiens	O60216	Anti Tag CoIP	26496610
Intra	SMC3	Q9UQE7	RAD21	Homo sapiens	O60216	Anti Bait CoIP	18235444
Intra	SMC3	Q9UQE7	RAD21	Homo sapiens	O60216	Anti Bait CoIP	17112726
Intra	SMC3	Q9UQE7	RAD21	Homo sapiens	O60216	Anti Bait CoIP	15855230
Intra	SMC3	Q9UQE7	RAD21	Homo sapiens	O60216	Anti Bait CoIP	16802858

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 3	CDLS3
Cornelia De Lange Syndrome, Type 3

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Wiedemann-Steiner Syndrome

WDSTS	Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome	Wiedemann Grosse Dibbern Syndrome
Kmt2a-Related Neurodevelopmental Disorder	Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay
Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay	Wss
Growth Deficiency And Mental Retardation With Facial Dysmorphism

Cornelia De Lange Syndrome 1

De Lange Syndrome	CDLS1
Cdl	Cdls
Typus Degenerativus Amstelodamensis	Brachmann-De Lange Syndrome
Bdls	Amstelodamensis Typus Degenerativus
Cornelia De Lange Syndrome, Type 1

Roberts-Sc Phocomelia Syndrome

Roberts Syndrome	Sc Phocomelia Syndrome
RBS	Long Bone Deficiencies Associated With Cleft Lip-Palate
Sc Pseudothalidomide Syndrome	Appelt-Gerken-Lenz Syndrome
Pseudothalidomide Syndrome	Tetraphocomelia-Cleft Palate Syndrome
Hypomelia Hypotrichosis Facial Hemangioma Syndrome	Roberts Syndrome/Sc Phocomelia
Roberts Tetraphocomelia Syndrome	Sc Syndrome
Sc Phocomelia	Sc Disease
Sc	Hemoglobin Sc Disease

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Syndromic Intellectual Disability

Chronic Atrial And Intestinal Dysrhythmia

CAID	Caid Syndrome
Cohesinopathy Affecting Heart And Gut Rhythm	Chronic Atrial Intestinal Dysrhythmia Syndrome
Chronic Atrial And Intestinal Dysrhythmia Syndrome	Chronic Atrial Dysrhythmia-Intestinal Motility Disorder
Dysrhythmia, Atrial And Intestinal, Chronic

Warsaw Breakage Syndrome

WABS

WBRS

Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 4	CDLS4
Cornelia De Lange Syndrome, Type 4

Kbg Syndrome

KBGS	Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies	Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome	Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Uterine Corpus Endometrial Carcinoma

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Myeloproliferative Syndrome, Transient

Transient Abnormal Myelopoiesis	Transient Myeloproliferative Syndrome
Transient Myeloproliferative Disease	Mst
Tam	Leukemia, Transient, Of Down Syndrome
Tmd	Leukemia, Transient
Transient Leukemia	Transient Leukemia Of Down Syndrome

Joubert Syndrome 7

JBTS7	Cerebello-Oculo-Renal Syndrome 3
Cors3	Joubert Syndrome, Type 7

Trichorhinophalangeal Syndrome, Type Ii

Langer-Giedion Syndrome	Lgs
Trichorhinophalangeal Syndrome Type Ii	Trichorhinophalangeal Syndrome Type 2
TRPS2	Monosomy 8q24.1
Chromosome 8q24.1 Deletion Syndrome	Deletion 8q24.1
Giedion-Langer Syndrome	Trichorhinophalangeal Dysplasia Type Ii
Langer Giedion Syndrome	Trps 2
Tricho-Rhino-Phalangeal Syndrome Type Ii	Trichorhinophalangeal Syndrome With Exostosis
Trps Ii	Tricho-Rhino-Phalangeal Syndrome 2
8q24.1 Microdeletion Syndrome	8q24.1 Deletion Syndrome

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Hypertrichosis

Alpha-Thalassemia

Alpha Thalassemia	Alpha Thalassaemia
Alpha Plus Thalassemia	Thalassemia, Alpha-
Thalassemias, Alpha-	A-Thalassemia
Α-Thalassemia	A-THAL
Thalassemia	Alpha Thalassaemia Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150772	Tubulin/HDAC-IN-1		/	Unkown
HY-158308	HDAC6-IN-41	Inhibitor	/	Unkown
HY-RS13419	SMC3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SMC3	VGNC	VGNC:35000
Rattus norvegicus	SMC3	RGD	RGD:62006
Felis catus	SMC3	VGNC	VGNC:65477
Canis familiaris	SMC3	VGNC	VGNC:46544
Mus musculus	SMC3	MGD	MGI:1339795
Macaca mulatta	SMC3	VGNC	VGNC:77769

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