Seroatlas · Human Serome Atlas

SAMD8

Sphingomyelin synthase-related protein 1

Also known as: FLJ25082, SAMD8_HUMAN, SMSr

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

Protein identityUniProt · HPA

UniProt accession
Q96LT4
Gene
SAMD8
Ensembl
ENSG00000156671
Chromosome
10
Canonical length
415 aa
Protein class
Predicted membrane proteins
Subcellular location
Endoplasmic reticulum,Cytosol

OverviewNCBI Gene

Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

415 residues, UniProt reviewed canonical sequence.

>Q96LT4|SAMD8
     1  MAGPNQLCIR RWTTKHVAVW LKDEGFFEYV DILCNKHRLD GITLLTLTEY DLRSPPLEIK
    61  VLGDIKRLML SVRKLQKIHI DVLEEMGYNS DSPMGSMTPF ISALQSTDWL CNGELSHDCD
   121  GPITDLNSDQ YQYMNGKNKH SVRRLDPEYW KTILSCIYVF IVFGFTSFIM VIVHERVPDM
   181  QTYPPLPDIF LDSVPRIPWA FAMTEVCGMI LCYIWLLVLL LHKHRSILLR RLCSLMGTVF
   241  LLRCFTMFVT SLSVPGQHLQ CTGKIYGSVW EKLHRAFAIW SGFGMTLTGV HTCGDYMFSG
   301  HTVVLTMLNF FVTEYTPRSW NFLHTLSWVL NLFGIFFILA AHEHYSIDVF IAFYITTRLF
   361  LYYHTLANTR AYQQSRRARI WFPMFSFFEC NVNGTVPNEY CWPFSKPAIM KRLIG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SAMD8 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)
0.34
Highest tissue expression
33 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 33 nTPM
  • skeletal muscle: 25 nTPM
  • cerebral cortex: 24 nTPM
  • retina: 21 nTPM
  • midbrain: 20 nTPM
  • bone marrow: 16 nTPM

Single-cell type

  • neutrophils: 401 nCPM
  • esophageal apical cells: 245 nCPM
  • neutrophil progenitors: 198 nCPM
  • syncytiotrophoblasts: 176 nCPM
  • myonuclei: 169 nCPM
  • esophageal suprabasal cells: 149 nCPM

Immune cell

  • neutrophil: 19 nTPM
  • non-classical monocyte: 6.6 nTPM
  • naive B-cell: 5.9 nTPM
  • memory B-cell: 5.5 nTPM
  • intermediate monocyte: 4.8 nTPM
  • NK-cell: 4 nTPM

Brain region

  • white matter: 67 nTPM
  • midbrain: 58 nTPM
  • spinal cord: 57 nTPM
  • medulla oblongata: 55 nTPM
  • basal ganglia: 52 nTPM
  • cerebellum: 50 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SAMD8.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 30 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.73
gnomAD pLI
0
gnomAD missense Z
2.89
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 SAMD8 as an antibody target. Whether an autoantibody or antibody against SAMD8 could matter depends on whether native SAMD8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SAMD8 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 SAMD8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SAMD8. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...