SERPINH1

Protein identityUniProt · HPA

UniProt accession

P50454

Gene

SERPINH1

Ensembl

ENSG00000149257

Chromosome

11

Canonical length

418 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Endoplasmic reticulum

Secretome location

Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]

Canonical amino-acid sequenceUniProt

418 residues, UniProt reviewed canonical sequence.

>P50454|SERPINH1
     1  MRSLLLLSAF CLLEAALAAE VKKPAAAAAP GTAEKLSPKA ATLAERSAGL AFSLYQAMAK
    61  DQAVENILVS PVVVASSLGL VSLGGKATTA SQAKAVLSAE QLRDEEVHAG LGELLRSLSN
   121  STARNVTWKL GSRLYGPSSV SFADDFVRSS KQHYNCEHSK INFRDKRSAL QSINEWAAQT
   181  TDGKLPEVTK DVERTDGALL VNAMFFKPHW DEKFHHKMVD NRGFMVTRSY TVGVMMMHRT
   241  GLYNYYDDEK EKLQIVEMPL AHKLSSLIIL MPHHVEPLER LEKLLTKEQL KIWMGKMQKK
   301  AVAISLPKGV VEVTHDLQKH LAGLGLTEAI DKNKADLSRM SGKKDLYLAS VFHATAFELD
   361  TDGNPFDQDI YGREELRSPK LFYADHPFIF LVRDTQSGSL LFIGRLVRPK GDKMRDEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SERPINH1 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

236 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SERPINH1.

Disease | AllUniProt

Conditions SERPINH1 is implicated in, by any mechanism.

• Osteogenesis imperfecta 10 (OI10) MIM:613848

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 298 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Osteogenesis imperfecta type 10
• Preterm premature rupture of membranes

ReferencesPubMed · IEDB

Publications for SERPINH1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.75

gnomAD pLI

0.03

gnomAD missense Z

0.05

DepMap mean gene effect

0.2

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chondrocyte development involved in endochondral bone morphogenesis
• collagen biosynthetic process
• collagen fibril organization
• protein maturation
• response to unfolded protein

Molecular functions

• collagen binding
• RNA binding
• serine-type endopeptidase inhibitor activity
• unfolded protein binding

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum lumen
• endoplasmic reticulum-Golgi intermediate compartment
• extracellular matrix
• extracellular space
• membrane raft

Protein domainsUniProt · Pfam · InterPro

• Serpin family
• Serpin, conserved site
• Serpin domain
• Serpin superfamily
• Serpin superfamily, domain 1
• Serpin superfamily, domain 2
• Serpin (serine protease inhibitor)
• Serpin H1, serpin domain

KeywordsUniProt

• Acetylation
• Chaperone
• Endoplasmic reticulum
• Glycoprotein
• Osteogenesis imperfecta
• Phosphoprotein
• Signal
• Stress response