Seroatlas · Human Serome Atlas

SMARCD1

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1

Also known as: BAF60A, CRACD1, Rsc6p, SMRD1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96GM5
Gene
SMARCD1
Ensembl
ENSG00000066117
Chromosome
12
Canonical length
515 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles

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 has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

515 residues, UniProt reviewed canonical sequence.

>Q96GM5|SMARCD1
     1  MAARAGFQSV APSGGAGASG GAGAAAALGP GGTPGPPVRM GPAPGQGLYR SPMPGAAYPR
    61  PGMLPGSRMT PQGPSMGPPG YGGNPSVRPG LAQSGMDQSR KRPAPQQIQQ VQQQAVQNRN
   121  HNAKKKKMAD KILPQRIREL VPESQAYMDL LAFERKLDQT IMRKRLDIQE ALKRPIKQKR
   181  KLRIFISNTF NPAKSDAEDG EGTVASWELR VEGRLLEDSA LSKYDATKQK RKFSSFFKSL
   241  VIELDKDLYG PDNHLVEWHR TATTQETDGF QVKRPGDVNV RCTVLLMLDY QPPQFKLDPR
   301  LARLLGIHTQ TRPVIIQALW QYIKTHKLQD PHEREFVICD KYLQQIFESQ RMKFSEIPQR
   361  LHALLMPPEP IIINHVISVD PNDQKKTACY DIDVEVDDTL KTQMNSFLLS TASQQEIATL
   421  DNKIHETIET INQLKTQREF MLSFARDPQG FINDWLQSQC RDLKTMTDVV GNPEEERRAE
   481  FYFQPWAQEA VCRYFYSKVQ QRRQELEQAL GIRNT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMARCD1 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)
0.46
Highest tissue expression
53 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 53 nTPM
  • tonsil: 45 nTPM
  • parathyroid gland: 44 nTPM
  • bone marrow: 42 nTPM
  • lymph node: 33 nTPM
  • spleen: 30 nTPM

Single-cell type

  • differentiating spermatogonia: 49 nCPM
  • megakaryocytes: 43 nCPM
  • breast secretory cells: 43 nCPM
  • megakaryocyte progenitors: 43 nCPM
  • megakaryocyte-erythroid progenitors: 41 nCPM
  • hematopoietic stem cells: 41 nCPM

Immune cell

  • memory B-cell: 3.6 nTPM
  • plasmacytoid DC: 3.5 nTPM
  • basophil: 3.4 nTPM
  • naive CD8 T-cell: 3.3 nTPM
  • gdT-cell: 2.9 nTPM
  • MAIT T-cell: 2.9 nTPM

Brain region

  • basal ganglia: 33 nTPM
  • white matter: 33 nTPM
  • thalamus: 31 nTPM
  • cerebral cortex: 30 nTPM
  • medulla oblongata: 30 nTPM
  • midbrain: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMARCD1.

Disease | AllUniProt

Conditions SMARCD1 is implicated in, by any mechanism.

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 128 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Coffin-Siris syndrome 11
  • Alopecia, androgenetic, 1

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)
0.21
gnomAD pLI
1
gnomAD missense Z
3.44
DepMap mean gene effect
-0.25
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 SMARCD1 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 SMARCD1 as an antibody target. Whether an autoantibody or antibody against SMARCD1 could matter depends on whether native SMARCD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMARCD1 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 SMARCD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SMARCD1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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