Seroatlas · Human Serome Atlas

SMARCAD1

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

Also known as: DKFZP762K2015, ETL1, KIAA1122, SMRCD_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H4L7
Gene: SMARCAD1
Ensembl: ENSG00000163104
Chromosome: 4
Canonical length: 1026 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

1026 residues, UniProt reviewed canonical sequence.

>Q9H4L7|SMARCAD1
     1  MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS RANTPDSDIT
    61  EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED VVSPNCSNTV QEKTFNKDTV
   121  IIVSEPSEDE ESQGLPTMAR RNDDISELED LSELEDLKDA KLQTLKELFP QRSDNDLLKL
   181  IESTSTMDGA IAAALLMFGD AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN
   241  ESAESSSNWE KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY
   301  VSQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN PKRVVEDSEY
   361  DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE LTLIPQCSQK KAQKITELRP
   421  FNSWEALFTK MSKTNGLSED LIWHCKTLIQ ERDVVIRLMN KCEDISNKLT KQVTMLTGNG
   481  GGWNIEQPSI LNQSLSLKPY QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY
   541  QEGNNGPHLI VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI
   601  VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN NRLLLTGTPV
   661  QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ SIYEKERIAH AKQIIKPFIL
   721  RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL YLGLFNRLKK SINNLEKNTE MCNVMMQLRK
   781  MANHPLLHRQ YYTAEKLKEM SQLMLKEPTH CEANPDLIFE DMEVMTDFEL HVLCKQYRHI
   841  NNFQLDMDLI LDSGKFRVLG CILSELKQKG DRVVLFSQFT MMLDILEVLL KHHQHRYLRL
   901  DGKTQISERI HLIDEFNTDM DIFVFLLSTK AGGLGINLTS ANVVILHDID CNPYNDKQAE
   961  DRCHRVGQTK EVLVIKLISQ GTIEESMLKI NQQKLKLEQD MTTVDEGDEG SMPADIATLL
  1021  KTSMGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMARCAD1 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): 0.39
Highest tissue expression: 20 nTPM

Expression across tissuesHPA

Tissue

skin: 20 nTPM
thymus: 17 nTPM
lymph node: 15 nTPM
breast: 14 nTPM
thyroid gland: 14 nTPM
endometrium: 14 nTPM

Single-cell type

somatotrophs: 162 nCPM
lactotrophs: 142 nCPM
thyrotrophs: 142 nCPM
sertoli cells: 136 nCPM
choroid plexus epithelial cells: 132 nCPM
oligodendrocyte progenitor cells: 128 nCPM

Immune cell

NK-cell: 4.5 nTPM
naive CD8 T-cell: 3.3 nTPM
memory B-cell: 2.9 nTPM
basophil: 2.8 nTPM
naive CD4 T-cell: 2.8 nTPM
memory CD4 T-cell: 2.6 nTPM

Brain region

cerebellum: 28 nTPM
white matter: 23 nTPM
hypothalamus: 21 nTPM
cerebral cortex: 20 nTPM
spinal cord: 19 nTPM
basal ganglia: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMARCAD1.

Disease | AllUniProt

Conditions SMARCAD1 is implicated in, by any mechanism.

Adermatoglyphia (ADERM) MIM:136000
Basan syndrome (BSNS) MIM:129200
Huriez syndrome (HRZ) MIM:181600

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 159 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Adermatoglyphia
Keratoderma with scleroatrophy of the extremities
Basan 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): 0.08
gnomAD pLI: 1
gnomAD missense Z: 3.49
DepMap mean gene effect: 0.02
DepMap dependency class: selective

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 SMARCAD1 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 SMARCAD1 as an antibody target. Whether an autoantibody or antibody against SMARCAD1 could matter depends on whether native SMARCAD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMARCAD1 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 SMARCAD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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