Seroatlas · Human Serome Atlas

SEM1

Putative protein SEM1, isoform 2

Also known as: C7orf76, DSS1, ECD, FLJ42280, PSMD15, SEML_HUMAN, SHFD1, Shfdg1, SHFM1, SHSF1

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

Protein identityUniProt · HPA

UniProt accession: Q6ZVN7
Gene: SEM1
Ensembl: ENSG00000127922
Chromosome: 7
Canonical length: 128 aa
Protein class: Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

128 residues, UniProt reviewed canonical sequence.

>Q6ZVN7|SEM1
     1  MYCQDSNICA VFAVQGGKVG RKHGIKRGRR PSIRSPAQRA RGPWIHESKH PAFAKQQINL
    61  EMPNSRATTE LAWVCSSTSR KKKWARSLTL STAPLSPPPS LVHCEDCSCL PGCHSGDLYN
   121  LAPAERTC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEM1 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.7
Highest tissue expression: 409 nTPM

Expression across tissuesHPA

Tissue

liver: 409 nTPM
skeletal muscle: 387 nTPM
heart muscle: 300 nTPM
esophagus: 293 nTPM
epididymis: 277 nTPM
adrenal gland: 268 nTPM

Single-cell type

syncytiotrophoblasts: 1,052 nCPM
extravillous trophoblasts: 904 nCPM
hepatocytes: 870 nCPM
esophageal suprabasal cells: 804 nCPM
late primary spermatocytes: 756 nCPM
cytotrophoblasts: 737 nCPM

Immune cell

plasmacytoid DC: 736 nTPM
myeloid DC: 661 nTPM
T-reg: 632 nTPM
intermediate monocyte: 528 nTPM
non-classical monocyte: 472 nTPM
classical monocyte: 444 nTPM

Brain region

hypothalamus: 64 nTPM
midbrain: 64 nTPM
white matter: 60 nTPM
pons: 57 nTPM
medulla oblongata: 55 nTPM
basal ganglia: 54 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): 1.53
gnomAD pLI: 0.02
DepMap mean gene effect: -1.07
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

double-strand break repair via homologous recombination

Cellular components

proteasome complex

Protein domainsUniProt · Pfam · InterPro

Protein of unknown function DUF5543
Family of unknown function (DUF5543)

KeywordsUniProt

Alternative promoter usage

InteractionsUniProt · HPA

Protein binding partners of SEM1 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 SEM1 as an antibody target. Whether an autoantibody or antibody against SEM1 could matter depends on whether native SEM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SEM1 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 SEM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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