Seroatlas · Human Serome Atlas

SMARCA5

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5

Also known as: hISWI, hSNF2H, ISWI, SMCA5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O60264
Gene: SMARCA5
Ensembl: ENSG00000153147
Chromosome: 4
Canonical length: 1052 aa
Protein class: Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nucleoli fibrillar center

OverviewNCBI Gene

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1052 residues, UniProt reviewed canonical sequence.

>O60264|SMARCA5
     1  MSSAAEPPPP PPPESAPSKP AASIASGGSN SSNKGGPEGV AAQAVASAAS AGPADAEMEE
    61  IFDDASPGKQ KEIQEPDPTY EEKMQTDRAN RFEYLLKQTE LFAHFIQPAA QKTPTSPLKM
   121  KPGRPRIKKD EKQNLLSVGD YRHRRTEQEE DEELLTESSK ATNVCTRFED SPSYVKWGKL
   181  RDYQVRGLNW LISLYENGIN GILADEMGLG KTLQTISLLG YMKHYRNIPG PHMVLVPKST
   241  LHNWMSEFKR WVPTLRSVCL IGDKEQRAAF VRDVLLPGEW DVCVTSYEML IKEKSVFKKF
   301  NWRYLVIDEA HRIKNEKSKL SEIVREFKTT NRLLLTGTPL QNNLHELWSL LNFLLPDVFN
   361  SADDFDSWFD TNNCLGDQKL VERLHMVLRP FLLRRIKADV EKSLPPKKEV KIYVGLSKMQ
   421  REWYTRILMK DIDILNSAGK MDKMRLLNIL MQLRKCCNHP YLFDGAEPGP PYTTDMHLVT
   481  NSGKMVVLDK LLPKLKEQGS RVLIFSQMTR VLDILEDYCM WRNYEYCRLD GQTPHDERQD
   541  SINAYNEPNS TKFVFMLSTR AGGLGINLAT ADVVILYDSD WNPQVDLQAM DRAHRIGQTK
   601  TVRVFRFITD NTVEERIVER AEMKLRLDSI VIQQGRLVDQ NLNKIGKDEM LQMIRHGATH
   661  VFASKESEIT DEDIDGILER GAKKTAEMNE KLSKMGESSL RNFTMDTESS VYNFEGEDYR
   721  EKQKIAFTEW IEPPKRERKA NYAVDAYFRE ALRVSEPKAP KAPRPPKQPN VQDFQFFPPR
   781  LFELLEKEIL FYRKTIGYKV PRNPELPNAA QAQKEEQLKI DEAESLNDEE LEEKEKLLTQ
   841  GFTNWNKRDF NQFIKANEKW GRDDIENIAR EVEGKTPEEV IEYSAVFWER CNELQDIEKI
   901  MAQIERGEAR IQRRISIKKA LDTKIGRYKA PFHQLRISYG TNKGKNYTEE EDRFLICMLH
   961  KLGFDKENVY DELRQCIRNS PQFRFDWFLK SRTAMELQRR CNTLITLIER ENMELEEKEK
  1021  AEKKKRGPKP STQKRKMDGA PDGRGRKKKL KL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMARCA5 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): 0.35
Highest tissue expression: 31 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 31 nTPM
testis: 31 nTPM
thymus: 28 nTPM
lung: 26 nTPM
lymph node: 25 nTPM
adrenal gland: 25 nTPM

Single-cell type

erythrocyte progenitors: 263 nCPM
alveolar cells type 2: 217 nCPM
pituicytes/fscs: 207 nCPM
megakaryocyte progenitors: 193 nCPM
corticotrophs: 173 nCPM
megakaryocyte-erythroid progenitors: 166 nCPM

Immune cell

non-classical monocyte: 22 nTPM
T-reg: 17 nTPM
eosinophil: 16 nTPM
NK-cell: 16 nTPM
MAIT T-cell: 15 nTPM
memory CD8 T-cell: 14 nTPM

Brain region

white matter: 55 nTPM
basal ganglia: 43 nTPM
medulla oblongata: 42 nTPM
spinal cord: 41 nTPM
cerebellum: 39 nTPM
pons: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMARCA5.

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 156 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short stature
SMARCA5-related disorder
SMARCA5-associated neurodevelopmental disorder
Neurodevelopmental disorder
Microcephaly

Disease | ImmuneIEDB

Conditions an epitope on SMARCA5 was assayed in.

colorectal cancer T cell

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): 0.07
gnomAD pLI: 1
gnomAD missense Z: 5.42
DepMap mean gene effect: -0.55
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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SMARCA5 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 SMARCA5 as an antibody target. Whether an autoantibody or antibody against SMARCA5 could matter depends on whether native SMARCA5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMARCA5 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 SMARCA5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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