Seroatlas · Human Serome Atlas

SGMS1

Phosphatidylcholine:ceramide cholinephosphotransferase 1

Also known as: MGC17342, MOB, SMS1, SMS1_HUMAN, TMEM23

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

Protein identityUniProt · HPA

UniProt accession: Q86VZ5
Gene: SGMS1
Ensembl: ENSG00000198964
Chromosome: 10
Canonical length: 413 aa
Protein class: Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Nucleoli fibrillar center,Golgi apparatus,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

413 residues, UniProt reviewed canonical sequence.

>Q86VZ5|SGMS1
     1  MKEVVYWSPK KVADWLLENA MPEYCEPLEH FTGQDLINLT QEDFKKPPLC RVSSDNGQRL
    61  LDMIETLKME HHLEAHKNGH ANGHLNIGVD IPTPDGSFSI KIKPNGMPNG YRKEMIKIPM
   121  PELERSQYPM EWGKTFLAFL YALSCFVLTT VMISVVHERV PPKEVQPPLP DTFFDHFNRV
   181  QWAFSICEIN GMILVGLWLI QWLLLKYKSI ISRRFFCIVG TLYLYRCITM YVTTLPVPGM
   241  HFNCSPKLFG DWEAQLRRIM KLIAGGGLSI TGSHNMCGDY LYSGHTVMLT LTYLFIKEYS
   301  PRRLWWYHWI CWLLSVVGIF CILLAHDHYT VDVVVAYYIT TRLFWWYHTM ANQQVLKEAS
   361  QMNLLARVWW YRPFQYFEKN VQGIVPRSYH WPFPWPVVHL SRQVKYSRLV NDT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGMS1 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: Other membrane
Secreted: No
Transmembrane segments: 6
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 50 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 50 nTPM
liver: 26 nTPM
skin: 24 nTPM
placenta: 23 nTPM
thyroid gland: 23 nTPM
bone marrow: 23 nTPM

Single-cell type

choroid plexus epithelial cells: 789 nCPM
retinal pigment epithelial cells: 627 nCPM
oligodendrocytes: 537 nCPM
rod photoreceptor cells: 518 nCPM
oligodendrocyte progenitor cells: 512 nCPM
sertoli cells: 479 nCPM

Immune cell

eosinophil: 28 nTPM
neutrophil: 17 nTPM
T-reg: 16 nTPM
MAIT T-cell: 10 nTPM
NK-cell: 10 nTPM
classical monocyte: 9.3 nTPM

Brain region

white matter: 95 nTPM
choroid plexus: 84 nTPM
medulla oblongata: 74 nTPM
basal ganglia: 68 nTPM
pons: 68 nTPM
spinal cord: 63 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): 0.35
gnomAD pLI: 0.95
gnomAD missense Z: 2.67
DepMap mean gene effect: 0
DepMap dependency class: selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SGMS1 as an antibody target. Whether an autoantibody or antibody against SGMS1 could matter depends on whether native SGMS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SGMS1 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 SGMS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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