Seroatlas · Human Serome Atlas

STEEP1

STING ER exit protein

Also known as: CXorf56, FLJ22965, STEEP_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H5V9
Gene: STEEP1
Ensembl: ENSG00000018610
Chromosome: X
Canonical length: 222 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Centrosome

OverviewNCBI Gene

While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

Canonical amino-acid sequenceUniProt

222 residues, UniProt reviewed canonical sequence.

>Q9H5V9|STEEP1
     1  MPKVVSRSVV CSDTRDREEY DDGEKPLHVY YCLCGQMVLV LDCQLEKLPM RPRDRSRVID
    61  AAKHAHKFCN TEDEETMYLR RPEGIERQYR KKCAKCGLPL FYQSQPKNAP VTFIVDGAVV
   121  KFGQGFGKTN IYTQKQEPPK KVMMTKRTKD MGKFSSVTVS TIDEEEEEIE AREVADSYAQ
   181  NAKVIEKQLE RKGMSKRRLQ ELAELEAKKA KMKGTLIDNQ FK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STEEP1 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: 0
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 15 nTPM
ovary: 13 nTPM
tongue: 12 nTPM
skeletal muscle: 12 nTPM
breast: 12 nTPM
blood vessel: 11 nTPM

Single-cell type

syncytiotrophoblasts: 57 nCPM
oocytes: 55 nCPM
extravillous trophoblasts: 32 nCPM
cytotrophoblasts: 29 nCPM
migrating cytotrophoblasts: 28 nCPM
retinal ganglion cells: 27 nCPM

Immune cell

naive B-cell: 16 nTPM
eosinophil: 14 nTPM
intermediate monocyte: 13 nTPM
non-classical monocyte: 12 nTPM
memory B-cell: 11 nTPM
T-reg: 10 nTPM

Brain region

hypothalamus: 18 nTPM
white matter: 18 nTPM
pons: 17 nTPM
basal ganglia: 17 nTPM
cerebral cortex: 16 nTPM
thalamus: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about STEEP1.

Disease | AllUniProt

Conditions STEEP1 is implicated in, by any mechanism.

Intellectual developmental disorder, X-linked 107 (XLID107) MIM:301013

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 87 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, X-linked 107

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): 0.31
gnomAD pLI: 0.95
DepMap mean gene effect: -0.21
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

protein-macromolecule adaptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

STEEP-like
STEEP1 domain
STEEP1 domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of STEEP1 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 STEEP1 as an antibody target. Whether an autoantibody or antibody against STEEP1 could matter depends on whether native STEEP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

STEEP1 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 STEEP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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