Seroatlas · Human Serome Atlas

MBTPS1

Membrane-bound transcription factor site-1 protease

Also known as: KIAA0091, MBTP1_HUMAN, PCSK8, S1P, SKI-1

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

Protein identityUniProt · HPA

UniProt accession
Q14703
Gene
MBTPS1
Ensembl
ENSG00000140943
Chromosome
16
Canonical length
1052 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]

Canonical amino-acid sequenceUniProt

1052 residues, UniProt reviewed canonical sequence.

>Q14703|MBTPS1
     1  MKLVNIWLLL LVVLLCGKKH LGDRLEKKSF EKAPCPGCSH LTLKVEFSST VVEYEYIVAF
    61  NGYFTAKARN SFISSALKSS EVDNWRIIPR NNPSSDYPSD FEVIQIKEKQ KAGLLTLEDH
   121  PNIKRVTPQR KVFRSLKYAE SDPTVPCNET RWSQKWQSSR PLRRASLSLG SGFWHATGRH
   181  SSRRLLRAIP RQVAQTLQAD VLWQMGYTGA NVRVAVFDTG LSEKHPHFKN VKERTNWTNE
   241  RTLDDGLGHG TFVAGVIASM RECQGFAPDA ELHIFRVFTN NQVSYTSWFL DAFNYAILKK
   301  IDVLNLSIGG PDFMDHPFVD KVWELTANNV IMVSAIGNDG PLYGTLNNPA DQMDVIGVGG
   361  IDFEDNIARF SSRGMTTWEL PGGYGRMKPD IVTYGAGVRG SGVKGGCRAL SGTSVASPVV
   421  AGAVTLLVST VQKRELVNPA SMKQALIASA RRLPGVNMFE QGHGKLDLLR AYQILNSYKP
   481  QASLSPSYID LTECPYMWPY CSQPIYYGGM PTVVNVTILN GMGVTGRIVD KPDWQPYLPQ
   541  NGDNIEVAFS YSSVLWPWSG YLAISISVTK KAASWEGIAQ GHVMITVASP AETESKNGAE
   601  QTSTVKLPIK VKIIPTPPRS KRVLWDQYHN LRYPPGYFPR DNLRMKNDPL DWNGDHIHTN
   661  FRDMYQHLRS MGYFVEVLGA PFTCFDASQY GTLLMVDSEE EYFPEEIAKL RRDVDNGLSL
   721  VIFSDWYNTS VMRKVKFYDE NTRQWWMPDT GGANIPALNE LLSVWNMGFS DGLYEGEFTL
   781  ANHDMYYASG CSIAKFPEDG VVITQTFKDQ GLEVLKQETA VVENVPILGL YQIPAEGGGR
   841  IVLYGDSNCL DDSHRQKDCF WLLDALLQYT SYGVTPPSLS HSGNRQRPPS GAGSVTPERM
   901  EGNHLHRYSK VLEAHLGDPK PRPLPACPRL SWAKPQPLNE TAPSNLWKHQ KLLSIDLDKV
   961  VLPNFRSNRP QVRPLSPGES GAWDIPGGIM PGRYNQEVGQ TIPVFAFLGA MVVLAFFVVQ
  1021  INKAKSRPKR RKPRVKRPQL MQQVHPPKTP SV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MBTPS1 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
Secreted
Secreted
Yes
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
101 nTPM

Expression across tissuesHPA

Tissue

  • retina: 101 nTPM
  • ovary: 56 nTPM
  • parathyroid gland: 55 nTPM
  • thyroid gland: 51 nTPM
  • adipose tissue: 43 nTPM
  • fallopian tube: 43 nTPM

Single-cell type

  • rod photoreceptor cells: 389 nCPM
  • corticotrophs: 215 nCPM
  • lactotrophs: 206 nCPM
  • cone photoreceptor cells: 203 nCPM
  • somatotrophs: 187 nCPM
  • endometrial glandular cells: 185 nCPM

Immune cell

  • total PBMC: 18 nTPM
  • NK-cell: 17 nTPM
  • naive CD4 T-cell: 17 nTPM
  • MAIT T-cell: 17 nTPM
  • gdT-cell: 16 nTPM
  • classical monocyte: 16 nTPM

Brain region

  • choroid plexus: 61 nTPM
  • hypothalamus: 60 nTPM
  • cerebellum: 59 nTPM
  • basal ganglia: 57 nTPM
  • cerebral cortex: 50 nTPM
  • hippocampal formation: 48 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MBTPS1.

Disease | AllUniProt

Conditions MBTPS1 is implicated in, by any mechanism.

  • Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) MIM:618392
  • Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome (CAOP) MIM:621252

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 608 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spondyloepiphyseal dysplasia, kondo-fu type
  • See cases

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)
0.59
gnomAD pLI
0
gnomAD missense Z
-1.45
DepMap mean gene effect
-0.58
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MBTPS1 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 MBTPS1 as an antibody target. Whether an autoantibody or antibody against MBTPS1 could matter depends on whether native MBTPS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MBTPS1 is annotated as secreted, so native MBTPS1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label MBTPS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MBTPS1. 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).

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