Seroatlas · Human Serome Atlas

SMC3

Structural maintenance of chromosomes protein 3

Also known as: BAM, bamacan, CSPG6, HCAP, SMC3_HUMAN, SMC3L1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UQE7
Gene: SMC3
Ensembl: ENSG00000108055
Chromosome: 10
Canonical length: 1217 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1217 residues, UniProt reviewed canonical sequence.

>Q9UQE7|SMC3
     1  MYIKQVIIQG FRSYRDQTIV DPFSSKHNVI VGRNGSGKSN FFYAIQFVLS DEFSHLRPEQ
    61  RLALLHEGTG PRVISAFVEI IFDNSDNRLP IDKEEVSLRR VIGAKKDQYF LDKKMVTKND
   121  VMNLLESAGF SRSNPYYIVK QGKINQMATA PDSQRLKLLR EVAGTRVYDE RKEESISLMK
   181  ETEGKREKIN ELLKYIEERL HTLEEEKEEL AQYQKWDKMR RALEYTIYNQ ELNETRAKLD
   241  ELSAKRETSG EKSRQLRDAQ QDARDKMEDI ERQVRELKTK ISAMKEEKEQ LSAERQEQIK
   301  QRTKLELKAK DLQDELAGNS EQRKRLLKER QKLLEKIEEK QKELAETEPK FNSVKEKEER
   361  GIARLAQATQ ERTDLYAKQG RGSQFTSKEE RDKWIKKELK SLDQAINDKK RQIAAIHKDL
   421  EDTEANKEKN LEQYNKLDQD LNEVKARVEE LDRKYYEVKN KKDELQSERN YLWREENAEQ
   481  QALAAKREDL EKKQQLLRAA TGKAILNGID SINKVLDHFR RKGINQHVQN GYHGIVMNNF
   541  ECEPAFYTCV EVTAGNRLFY HIVDSDEVST KILMEFNKMN LPGEVTFLPL NKLDVRDTAY
   601  PETNDAIPMI SKLRYNPRFD KAFKHVFGKT LICRSMEVST QLARAFTMDC ITLEGDQVSH
   661  RGALTGGYYD TRKSRLELQK DVRKAEEELG ELEAKLNENL RRNIERINNE IDQLMNQMQQ
   721  IETQQRKFKA SRDSILSEMK MLKEKRQQSE KTFMPKQRSL QSLEASLHAM ESTRESLKAE
   781  LGTDLLSQLS LEDQKRVDAL NDEIRQLQQE NRQLLNERIK LEGIITRVET YLNENLRKRL
   841  DQVEQELNEL RETEGGTVLT ATTSELEAIN KRVKDTMARS EDLDNSIDKT EAGIKELQKS
   901  MERWKNMEKE HMDAINHDTK ELEKMTNRQG MLLKKKEECM KKIRELGSLP QEAFEKYQTL
   961  SLKQLFRKLE QCNTELKKYS HVNKKALDQF VNFSEQKEKL IKRQEELDRG YKSIMELMNV
  1021  LELRKYEAIQ LTFKQVSKNF SEVFQKLVPG GKATLVMKKG DVEGSQSQDE GEGSGESERG
  1081  SGSQSSVPSV DQFTGVGIRV SFTGKQGEMR EMQQLSGGQK SLVALALIFA IQKCDPAPFY
  1141  LFDEIDQALD AQHRKAVSDM IMELAVHAQF ITTTFRPELL ESADKFYGVK FRNKVSHIDV
  1201  ITAEMAKDFV EDDTTHG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMC3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 34 nTPM

Expression across tissuesHPA

Tissue

thymus: 34 nTPM
testis: 32 nTPM
bone marrow: 27 nTPM
retina: 22 nTPM
tonsil: 21 nTPM
lymph node: 20 nTPM

Single-cell type

early primary spermatocytes: 1,402 nCPM
differentiating spermatogonia: 704 nCPM
undifferentiated spermatogonia: 298 nCPM
oocytes: 295 nCPM
erythrocyte progenitors: 274 nCPM
megakaryocyte progenitors: 197 nCPM

Immune cell

T-reg: 9.9 nTPM
basophil: 8.3 nTPM
memory CD8 T-cell: 6.9 nTPM
MAIT T-cell: 6.8 nTPM
naive CD8 T-cell: 6.6 nTPM
memory CD4 T-cell: 6.5 nTPM

Brain region

cerebellum: 20 nTPM
white matter: 12 nTPM
choroid plexus: 10 nTPM
basal ganglia: 9.8 nTPM
spinal cord: 9.7 nTPM
hypothalamus: 9.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMC3.

Disease | AllUniProt

Conditions SMC3 is implicated in, by any mechanism.

Cornelia de Lange syndrome 3 with or without midline brain defects (CDLS3) MIM:610759

Disease | GeneticClinVar

80 pathogenic / likely-pathogenic of 788 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cornelia de Lange syndrome 3
Inborn genetic diseases
De Lange syndrome
SMC3-related disorder
Wiedemann-Steiner syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.04
gnomAD pLI: 1
gnomAD missense Z: 6.4
DepMap mean gene effect: -1.28
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

RecF/RecN/SMC, N-terminal
SMCs flexible hinge
Structural maintenance of chromosomes protein
P-loop containing nucleoside triphosphate hydrolase
SMCs flexible hinge superfamily
RecF/RecN/SMC N terminal domain
SMC proteins Flexible Hinge Domain
Structural maintenance of chromosomes 3, ABC domain, eukaryotic

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SMC3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SMC3 as an antibody target. Whether an autoantibody or antibody against SMC3 could matter depends on whether native SMC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMC3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SMC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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