SCNM1
Sodium channel modifier 1
Also known as: MGC3180, SCNM1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BWG6
- Gene
- SCNM1
- Ensembl
- ENSG00000163156
- Chromosome
- 1
- Canonical length
- 230 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, Oct 2009]
Canonical amino-acid sequenceUniProt
230 residues, UniProt reviewed canonical sequence.
>Q9BWG6|SCNM1
1 MSFKREGDDW SQLNVLKKRR VGDLLASYIP EDEALMLRDG RFACAICPHR PVLDTLAMLT
61 AHRAGKKHLS SLQLFYGKKQ PGKERKQNPK HQNELRREET KAEAPLLTQT RLITQSALHR
121 APHYNSCCRR KYRPEAPGPS VSLSPMPPSE VKLQSGKISR EPEPAAGPQA EESATVSAPA
181 PMSPTRRRAL DHYLTLRSSG WIPDGRGRWV KDENVEFDSD EEEPPDLPLDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SCNM1 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)
- 0.57
- Highest tissue expression
- 61 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 61 nTPM
- bone marrow: 44 nTPM
- lymph node: 37 nTPM
- blood vessel: 36 nTPM
- spinal cord: 33 nTPM
- spleen: 33 nTPM
Single-cell type
- hofbauer cells: 119 nCPM
- esophageal apical cells: 76 nCPM
- cone photoreceptor cells: 68 nCPM
- rod photoreceptor cells: 63 nCPM
- cdc: 60 nCPM
- megakaryocytes: 56 nCPM
Immune cell
- basophil: 287 nTPM
- plasmacytoid DC: 262 nTPM
- myeloid DC: 255 nTPM
- eosinophil: 204 nTPM
- neutrophil: 192 nTPM
- classical monocyte: 190 nTPM
Brain region
- white matter: 22 nTPM
- medulla oblongata: 20 nTPM
- thalamus: 20 nTPM
- cerebellum: 20 nTPM
- pons: 19 nTPM
- hypothalamus: 19 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SCNM1.
Disease | AllUniProt
Conditions SCNM1 is implicated in, by any mechanism.
- Orofaciodigital syndrome 19 (OFD19) MIM:620107
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 41 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Orofaciodigital syndrome 19
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)
- 1.1
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.13
- DepMap mean gene effect
- -0.41
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% 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
- Sodium channel modifier 1, zinc-finger
- Sodium channel modifier 1, acidic C-terminal domain
- Sodium channel modifier 1
- Zinc-finger of sodium channel modifier 1
- Acidic C-terminal region of sodium channel modifier 1 SCNM1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SCNM1 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 SCNM1 as an antibody target. Whether an autoantibody or antibody against SCNM1 could matter depends on whether native SCNM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SCNM1 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 SCNM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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