Seroatlas · Human Serome Atlas

SMARCC1

SWI/SNF complex subunit SMARCC1

Also known as: BAF155, CRACC1, Rsc8, SMRC1_HUMAN, SRG3

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

Protein identityUniProt · HPA

UniProt accession: Q92922
Gene: SMARCC1
Ensembl: ENSG00000173473
Chromosome: 3
Canonical length: 1105 aa
Protein class: Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1105 residues, UniProt reviewed canonical sequence.

>Q92922|SMARCC1
     1  MAAAAGGGGP GTAVGATGSG IAAAAAGLAV YRRKDGGPAT KFWESPETVS QLDSVRVWLG
    61  KHYKKYVHAD APTNKTLAGL VVQLLQFQED AFGKHVTNPA FTKLPAKCFM DFKAGGALCH
   121  ILGAAYKYKN EQGWRRFDLQ NPSRMDRNVE MFMNIEKTLV QNNCLTRPNI YLIPDIDLKL
   181  ANKLKDIIKR HQGTFTDEKS KASHHIYPYS SSQDDEEWLR PVMRKEKQVL VHWGFYPDSY
   241  DTWVHSNDVD AEIEDPPIPE KPWKVHVKWI LDTDIFNEWM NEEDYEVDEN RKPVSFRQRI
   301  STKNEEPVRS PERRDRKASA NARKRKHSPS PPPPTPTESR KKSGKKGQAS LYGKRRSQKE
   361  EDEQEDLTKD MEDPTPVPNI EEVVLPKNVN LKKDSENTPV KGGTVADLDE QDEETVTAGG
   421  KEDEDPAKGD QSRSVDLGED NVTEQTNHII IPSYASWFDY NCIHVIERRA LPEFFNGKNK
   481  SKTPEIYLAY RNFMIDTYRL NPQEYLTSTA CRRNLTGDVC AVMRVHAFLE QWGLVNYQVD
   541  PESRPMAMGP PPTPHFNVLA DTPSGLVPLH LRSPQVPAAQ QMLNFPEKNK EKPVDLQNFG
   601  LRTDIYSKKT LAKSKGASAG REWTEQETLL LLEALEMYKD DWNKVSEHVG SRTQDECILH
   661  FLRLPIEDPY LENSDASLGP LAYQPVPFSQ SGNPVMSTVA FLASVVDPRV ASAAAKAALE
   721  EFSRVREEVP LELVEAHVKK VQEAARASGK VDPTYGLESS CIAGTGPDEP EKLEGAEEEK
   781  MEADPDGQQP EKAENKVENE TDEGDKAQDG ENEKNSEKEQ DSEVSEDTKS EEKETEENKE
   841  LTDTCKERES DTGKKKVEHE ISEGNVATAA AAALASAATK AKHLAAVEER KIKSLVALLV
   901  ETQMKKLEIK LRHFEELETI MDREKEALEQ QRQQLLTERQ NFHMEQLKYA ELRARQQMEQ
   961  QQHGQNPQQA HQHSGGPGLA PLGAAGHPGM MPHQQPPPYP LMHHQMPPPH PPQPGQIPGP
  1021  GSMMPGQHMP GRMIPTVAAN IHPSGSGPTP PGMPPMPGNI LGPRVPLTAP NGMYPPPPQQ
  1081  QPPPPPPADG VPPPPAPGPP ASAAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMARCC1 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): 0.51
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

thymus: 33 nTPM
tonsil: 28 nTPM
skin: 23 nTPM
breast: 22 nTPM
colon: 22 nTPM
prostate: 21 nTPM

Single-cell type

endometrial glandular cells: 432 nCPM
megakaryocyte-erythroid progenitors: 364 nCPM
endometrial luminal cells: 355 nCPM
respiratory deuterosomal cells: 316 nCPM
proximal tubule cells: 303 nCPM
neutrophils: 277 nCPM

Immune cell

memory B-cell: 3.9 nTPM
memory CD8 T-cell: 3.7 nTPM
naive CD8 T-cell: 3.3 nTPM
T-reg: 3.1 nTPM
memory CD4 T-cell: 3 nTPM
naive CD4 T-cell: 2.8 nTPM

Brain region

basal ganglia: 24 nTPM
white matter: 23 nTPM
spinal cord: 22 nTPM
midbrain: 21 nTPM
amygdala: 21 nTPM
thalamus: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMARCC1.

Disease | AllUniProt

Conditions SMARCC1 is implicated in, by any mechanism.

Hydrocephalus, congenital, 5 (HYC5) MIM:620241

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 235 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital hydrocephalus
Hydrocephalus, congenital, 5, susceptibility to
Global developmental delay
Inborn genetic diseases

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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 2.45
DepMap mean gene effect: -0.24
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SMARCC1 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 SMARCC1 as an antibody target. Whether an autoantibody or antibody against SMARCC1 could matter depends on whether native SMARCC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMARCC1 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 SMARCC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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