SMC3 - structural maintenance of chromosomes 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9126

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

SMC3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82806	SMC3 Antibody (YA2551)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150772	Tubulin/HDAC-IN-1		/	Unkown
HY-158308	HDAC6-IN-41	Inhibitor	/	Unkown
HY-181024	PROTAC HDAC8 Degrader-4	Degrader	/	Unkown
HY-181979	HDAC8-IN-15		/	Unkown
HY-182035	HDAC8-IN-16		/	Unkown
HY-RS13419	SMC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18370	Smc3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24849	Smc3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SMC3	NCBI