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structural maintenance of chromosomes 3

Summary

Gene Symbol

SMC3

Aliases

BAM
HCAP
SMC3L1
bamacan
bamacan proteoglycan

Organism

Homo sapiens (human)

External Links

NCBI Gene

9126

HGNC

2468

KEGG Gene ID

hsa:9126

PubChem

9126

Alliance of Genome Resources

HGNC:2468

Annotation

Keyword

3D-structure
ATP-binding
Acetylation
Centromere
Chromosome
Coiled coil
DNA repair
Direct protein sequencing
Disease variant
Intellectual disability
Meiosis
Mitosis
Nucleus
Phosphoprotein
Reference proteome
Ubl conjugation

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9UQE7	Basement membrane-associated chondroitin proteoglycan Chondroitin sulfate proteoglycan 6 Chromosome-associated polypeptide

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
mitotic sister chromatid cohesion	IBA
regulation of DNA replication	IMP	19907496
establishment of meiotic sister chromatid cohesion		32409525
meiotic cell cycle	IDA
mitotic spindle assembly	IMP	11590136

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular process [inference]

microtubule-based process [inference]

microtubule cytoskeleton organization [inference]

spindle organization [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

spindle assembly [inference]

mitotic spindle assembly

microtubule cytoskeleton organization involved in mitosis [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

cell cycle [inference]

cell cycle process [inference]

spindle organization [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

spindle assembly [inference]

mitotic spindle assembly

sister chromatid cohesion

mitotic sister chromatid cohesion

establishment of sister chromatid cohesion [inference]

mitotic cell cycle process [inference]

establishment of mitotic sister chromatid cohesion

microtubule cytoskeleton organization involved in mitosis [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cell division

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

microtubule cytoskeleton organization [inference]

spindle organization [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

spindle assembly [inference]

mitotic spindle assembly

microtubule cytoskeleton organization involved in mitosis [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

chromosome organization [inference]

sister chromatid cohesion

mitotic sister chromatid cohesion

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

spindle assembly [inference]

mitotic spindle assembly

cellular component assembly [inference]

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

spindle assembly [inference]

mitotic spindle assembly

reproductive process [inference]

meiotic cell cycle

multicellular organismal process [inference]

stem cell population maintenance

developmental process [inference]

maintenance of cell number [inference]

stem cell population maintenance

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of DNA metabolic process [inference]

regulation of DNA replication

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of DNA metabolic process [inference]

regulation of DNA replication

regulation of macromolecule metabolic process [inference]

regulation of DNA metabolic process [inference]

regulation of DNA replication

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of DNA metabolic process [inference]

regulation of DNA replication

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of DNA metabolic process [inference]

regulation of DNA replication

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GO Term	Evidence Code	PMID
nucleus		32409525
cytosol
chromosome
lateral element	IEA
mitotic cohesin complex	IBA IPI ISS	23242214

GO Hierarchy

cellular component

protein-containing complex [inference]

cohesin complex

protein-DNA complex [inference]

chromatin

cellular anatomical entity [inference]

lateral element

spindle pole [inference]

mitotic spindle pole

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

chromosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

chromosome

chromosomal region [inference]

chromosome, centromeric region

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GO Term	Evidence Code	PMID
double-stranded DNA binding	IBA
microtubule motor activity		11590136
chromatin binding	IEA
beta-tubulin binding	IDA	11590136
dynein complex binding	IDA	11590136

GO Hierarchy

molecular function

cytoskeletal motor activity [inference]

microtubule motor activity

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

ATP hydrolysis activity

binding [inference]

protein binding

cytoskeletal protein binding [inference]

tubulin binding [inference]

beta-tubulin binding

protein dimerization activity [inference]

protein heterodimerization activity

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

protein-containing complex binding [inference]

organic cyclic compound binding [inference]

nucleic acid binding [inference]

DNA binding [inference]

double-stranded DNA binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ATP-dependent activity [inference]

microtubule motor activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000108055

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K06669

Name

structural maintenance of chromosome 3 (chondroitin sulfate proteoglycan 6)

References

11076961

Disease

Disease Ontology

Displaying entries **1 - 10** of **168** in total

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DO ID	Disease Name	Source
DOID:0050536	obsolete SC phocomelia syndrome	DisGeNET
DOID:0050569	Seckel syndrome	DisGeNET
DOID:0050572	cone-rod dystrophy	DisGeNET
DOID:0050778	Meckel syndrome	DisGeNET
DOID:0060058	lymphoma	DisGeNET
DOID:0060254	Robinow syndrome	DisGeNET
DOID:0060260	ptosis	DisGeNET
DOID:0060261	congenital ptosis	DisGeNET
DOID:0060287	cornea plana	DisGeNET
DOID:0060320	inguinal hernia	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000003	Multicystic kidney dysplasia
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000059	Hypoplastic labia majora
HP:0000072	Hydroureter
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000130	Abnormality of the uterus
HP:0000175	Cleft palate

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:199	Cornelia de Lange syndrome
OMIM:610759	Cornelia de Lange syndrome 3

PubChem Disease

GHR Health Conditions

Cornelia de Lange syndrome

MedGen Diseases

Cornelia de Lange syndrome 3

OMIM Phenotypes

CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS3

KEGG Diseases

Cornelia de Lange syndrome

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	176559	WB:WBGene00004873
Drosophila melanogaster	32627	FB:FBgn0015615
Callorhinchus milii	103185247		CALMI31696
Latimeria chalumnae	102345584		LATCH11603
Danio rerio	324475	ZFIN:ZDB-GENE-030131-3196	DANRE23509
Astyanax mexicanus	103034304		ASTMX10503
Ictalurus punctatus	108259389		ICTPU22382
Electrophorus electricus	113580689		ELEEL26164
Salmo salar	106564479		SALSA18191
Salmo salar	106590166		SALSA18191

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements