SMARCA1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1
Also known as: hSNF2L, ISWI, NURF140, SMCA1_HUMAN, SNF2L, SNF2L1, SNF2LB, SWI
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P28370
- Gene
- SMARCA1
- Ensembl
- ENSG00000102038
- Chromosome
- X
- Canonical length
- 1042 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Vesicles
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Canonical amino-acid sequenceUniProt
1042 residues, UniProt reviewed canonical sequence.
>P28370|SMARCA1
1 MEQDTAAVAA TVAAADATAT IVVIEDEQPG PSTSQEEGAA AAATEATAAT EKGEKKKEKN
61 VSSFQLKLAA KAPKSEKEMD PEYEEKMKAD RAKRFEFLLK QTELFAHFIQ PSAQKSPTSP
121 LNMKLGRPRI KKDEKQSLIS AGDYRHRRTE QEEDEELLSE SRKTSNVCIR FEVSPSYVKG
181 GPLRDYQIRG LNWLISLYEN GVNGILADEM GLGKTLQTIA LLGYLKHYRN IPGPHMVLVP
241 KSTLHNWMNE FKRWVPSLRV ICFVGDKDAR AAFIRDEMMP GEWDVCVTSY EMVIKEKSVF
301 KKFHWRYLVI DEAHRIKNEK SKLSEIVREF KSTNRLLLTG TPLQNNLHEL WALLNFLLPD
361 VFNSADDFDS WFDTKNCLGD QKLVERLHAV LKPFLLRRIK TDVEKSLPPK KEIKIYLGLS
421 KMQREWYTKI LMKDIDVLNS SGKMDKMRLL NILMQLRKCC NHPYLFDGAE PGPPYTTDEH
481 IVSNSGKMVV LDKLLAKLKE QGSRVLIFSQ MTRLLDILED YCMWRGYEYC RLDGQTPHEE
541 REEAIEAFNA PNSSKFIFML STRAGGLGIN LASADVVILY DSDWNPQVDL QAMDRAHRIG
601 QKKPVRVFRL ITDNTVEERI VERAEIKLRL DSIVIQQGRL IDQQSNKLAK EEMLQMIRHG
661 ATHVFASKES ELTDEDITTI LERGEKKTAE MNERLQKMGE SSLRNFRMDI EQSLYKFEGE
721 DYREKQKLGM VEWIEPPKRE RKANYAVDAY FREALRVSEP KIPKAPRPPK QPNVQDFQFF
781 PPRLFELLEK EILYYRKTIG YKVPRNPDIP NPALAQREEQ KKIDGAEPLT PEETEEKEKL
841 LTQGFTNWTK RDFNQFIKAN EKYGRDDIDN IAREVEGKSP EEVMEYSAVF WERCNELQDI
901 EKIMAQIERG EARIQRRISI KKALDAKIAR YKAPFHQLRI QYGTSKGKNY TEEEDRFLIC
961 MLHKMGFDRE NVYEELRQCV RNAPQFRFDW FIKSRTAMEF QRRCNTLISL IEKENMEIEE
1021 RERAEKKKRA TKTPMVKFSA FSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SMARCA1 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)
- 0.34
- Highest tissue expression
- 74 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 74 nTPM
- liver: 58 nTPM
- testis: 54 nTPM
- ovary: 53 nTPM
- thyroid gland: 42 nTPM
- parathyroid gland: 42 nTPM
Single-cell type
- sertoli cells: 488 nCPM
- leydig cells: 241 nCPM
- choroid plexus epithelial cells: 228 nCPM
- ovarian stromal cells: 223 nCPM
- peritubular myoid cells: 191 nCPM
- pituitary stem cells: 190 nCPM
Immune cell
- naive CD4 T-cell: 1.1 nTPM
- NK-cell: 0.5 nTPM
- naive CD8 T-cell: 0.3 nTPM
- plasmacytoid DC: 0.2 nTPM
- gdT-cell: 0.1 nTPM
- total PBMC: 0.1 nTPM
Brain region
- choroid plexus: 78 nTPM
- hypothalamus: 68 nTPM
- pons: 45 nTPM
- hippocampal formation: 43 nTPM
- midbrain: 42 nTPM
- thalamus: 39 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SMARCA1.
Disease | GeneticClinVar
17 pathogenic / likely-pathogenic of 392 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.14
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.44
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- chromatin remodeling
- heterochromatin formation
- neuron differentiation
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- regulation of DNA-templated transcription
Molecular functions
- ATP binding
- ATP hydrolysis activity
- ATP-dependent chromatin remodeler activity
- ATP-dependent DNA/DNA annealing activity
- chromatin binding
- DNA binding
- helicase activity
- nucleosome array spacer activity
- nucleosome binding
- RNA polymerase II-specific DNA-binding transcription factor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SNF2, N-terminal domain
- SANT/Myb domain
- Helicase, C-terminal domain-like
- Homedomain-like superfamily
- Helicase superfamily 1/2, ATP-binding domain
- ISWI, HAND domain
- SLIDE domain
- SANT domain
- P-loop containing nucleoside triphosphate hydrolase
- ISWI, HAND domain superfamily
- SNF2-like, N-terminal domain superfamily
- SNF2/RAD5-like, C-terminal helicase domain
- SNF2-related domain
- Helicase conserved C-terminal domain
- HAND
- SLIDE
- SMARCA1, N-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SMARCA1 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 SMARCA1 as an antibody target. Whether an autoantibody or antibody against SMARCA1 could matter depends on whether native SMARCA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SMARCA1 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 SMARCA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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