SMC3 structural maintenance of chromosomes 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SMC3provided by HGNC
Official Full Name: structural maintenance of chromosomes 3provided by HGNC
Primary source: HGNC:HGNC:2468
See related: Ensembl:ENSG00000108055 MIM:606062; AllianceGenome:HGNC:2468
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAM; BMH; HCAP; CDLS3; CSPG6; SMC3L1
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]
Expression: Ubiquitous expression in testis (RPKM 37.2), bone marrow (RPKM 22.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.2

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (110567695..110606048)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (111451468..111489803)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (112327453..112365806)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Title: Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma.
Title: RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma.
SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
Title: SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model.
Title: Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model.
Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes.
Title: Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes.
SMC3 protein levels impact on karyotype.
Title: SMC3 protein levels impact on karyotype and outcome in acute myeloid leukemia.
H2 inhibited lung cancer progression through down-regulating SMC3.
Title: Hydrogen gas inhibits lung cancer progression through targeting SMC3.
Both the SMC1A and SMC3 gene mutation tests were negative in all Chinese patients with Cornelia de Lange syndrome.
Title: Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
We identified a large number of mutations in the CC region of both Smc1 and Smc3... we introduced them to the yeast Smc1 and Smc3 CC domains and characterized the effect of these mutant alleles on cohesin's function. We identified a missense mutation in the region of the kink domain of Smc3, which was previously identified in kidney carcinoma
Title: Identification of a region in the coiled-coil domain of Smc3 that is essential for cohesin activity.
Results show that SMC3 is upregulated in asthma patients and suggest that it may play an important role in atopic asthma development, especially in asthma epithelial-mesenchymal transition.
Title: SMC3 may play an important role in atopic asthma development.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cornelia de Lange syndrome 3 MedGen: C1853099 OMIM: 610759 GeneReviews: Cornelia de Lange Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Interaction of HIV-1 Tat with SMC3 in T-cells is identified by a proteomic strategy based on affinity chromatography coupled with mass spectrometry	PubMed
Vpr	vpr	HIV-1 Vpr decreases the amount of Smc1 and Smc3 proteins in the chromatin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103755 (e-PCR)
- UniSTS:98080

SMC3-1 (e-PCR)
- UniSTS:513658

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables beta-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein complex binding	IDA Inferred from Direct Assay more info	PubMed
enables mediator complex binding	IEA Inferred from Electronic Annotation more info
enables microtubule motor activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in establishment of meiotic sister chromatid cohesion	NAS Non-traceable Author Statement more info	PubMed
involved_in establishment of mitotic sister chromatid cohesion	NAS Non-traceable Author Statement more info	PubMed
involved_in meiotic cell cycle	IDA Inferred from Direct Assay more info
involved_in mitotic cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in mitotic sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sister chromatid cohesion	NAS Non-traceable Author Statement more info	PubMed
involved_in stem cell population maintenance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	TAS Traceable Author Statement more info
located_in chromosome, centromeric region	TAS Traceable Author Statement more info
part_of cohesin complex	IDA Inferred from Direct Assay more info	PubMed
part_of cohesin complex	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in lateral element	IEA Inferred from Electronic Annotation more info
part_of meiotic cohesin complex	IDA Inferred from Direct Assay more info	PubMed
part_of meiotic cohesin complex	NAS Non-traceable Author Statement more info	PubMed
part_of mitotic cohesin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mitotic cohesin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of mitotic cohesin complex	ISS Inferred from Sequence or Structural Similarity more info
located_in mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: structural maintenance of chromosomes protein 3

Names: SMC protein 3; basement membrane-associated chondroitin proteoglycan; chondroitin sulfate proteoglycan 6 (bamacan); chromosome-associated polypeptide

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.

Genomic

NG_012217.1 RefSeqGene

Range

5001..41944

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_774

mRNA and Protein(s)

NM_005445.4 → NP_005436.1 structural maintenance of chromosomes protein 3

See identical proteins and their annotated locations for NP_005436.1

Status: REVIEWED

Source sequence(s)

AF020043, AL359260, CA439554

Consensus CDS

CCDS31285.1

UniProtKB/Swiss-Prot

A8K156, O60464, Q5T482, Q9UQE7

UniProtKB/TrEMBL

Q86VX4

Related

ENSP00000354720.5, ENST00000361804.5

Conserved Domains (1) summary

COG1196
Location:1 → 1194

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]