Seroatlas · Human Serome Atlas

SMNDC1

Survival of motor neuron-related-splicing factor 30

Also known as: SMNR, SPF30, SPF30_HUMAN, TDRD16C

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

Protein identityUniProt · HPA

UniProt accession: O75940
Gene: SMNDC1
Ensembl: ENSG00000119953
Chromosome: 10
Canonical length: 238 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

238 residues, UniProt reviewed canonical sequence.

>O75940|SMNDC1
     1  MSEDLAKQLA SYKAQLQQVE AALSGNGENE DLLKLKKDLQ EVIELTKDLL STQPSETLAS
    61  SDSFASTQPT HSWKVGDKCM AVWSEDGQCY EAEIEEIDEE NGTAAITFAG YGNAEVTPLL
   121  NLKPVEEGRK AKEDSGNKPM SKKEMIAQQR EYKKKKALKK AQRIKELEQE REDQKVKWQQ
   181  FNNRAYSKNK KGQVKRSIFA SPESVTGKVG VGTCGIADKP MTQYQDTSKY NVRHLMPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMNDC1 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): 0.5
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 30 nTPM
skeletal muscle: 23 nTPM
thymus: 19 nTPM
placenta: 17 nTPM
tonsil: 17 nTPM
tongue: 17 nTPM

Single-cell type

neutrophils: 109 nCPM
esophageal apical cells: 86 nCPM
neutrophil progenitors: 71 nCPM
suprabasal keratinocytes: 70 nCPM
endometrial secretory cells: 69 nCPM
platelets: 68 nCPM

Immune cell

neutrophil: 17 nTPM
eosinophil: 15 nTPM
non-classical monocyte: 9.9 nTPM
intermediate monocyte: 9.2 nTPM
classical monocyte: 8.9 nTPM
myeloid DC: 8.6 nTPM

Brain region

cerebellum: 21 nTPM
white matter: 18 nTPM
choroid plexus: 15 nTPM
spinal cord: 14 nTPM
basal ganglia: 14 nTPM
hypothalamus: 14 nTPM

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): 0.53
gnomAD pLI: 0.64
gnomAD missense Z: 2.48
DepMap mean gene effect: -0.98
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

RNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SMNDC1 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 SMNDC1 as an antibody target. Whether an autoantibody or antibody against SMNDC1 could matter depends on whether native SMNDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMNDC1 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 SMNDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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