P50454 · SERPH_HUMAN
- ProteinSerpin H1
- GeneSERPINH1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids418 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
Features
Showing features for site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 377-378 | Reactive bond homolog | ||||
Sequence: RS |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | collagen-containing extracellular matrix | |
Cellular Component | endoplasmic reticulum | |
Cellular Component | endoplasmic reticulum lumen | |
Cellular Component | endoplasmic reticulum-Golgi intermediate compartment | |
Cellular Component | extracellular space | |
Cellular Component | membrane raft | |
Molecular Function | collagen binding | |
Molecular Function | RNA binding | |
Molecular Function | serine-type endopeptidase inhibitor activity | |
Molecular Function | unfolded protein binding | |
Biological Process | chondrocyte development involved in endochondral bone morphogenesis | |
Biological Process | collagen biosynthetic process | |
Biological Process | collagen fibril organization | |
Biological Process | protein maturation | |
Biological Process | response to unfolded protein |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameSerpin H1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP50454
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Osteogenesis imperfecta 10 (OI10)
- Note
- DescriptionA form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae.
- See alsoMIM:613848
Natural variants in OI10
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_063602 | 78 | L>P | in OI10; dbSNP:rs137853892 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_028445 | 41 | in dbSNP:rs7105528 | |||
Sequence: A → P | ||||||
Natural variant | VAR_063602 | 78 | in OI10; dbSNP:rs137853892 | |||
Sequence: L → P |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 617 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, modified residue (large scale data), modified residue, glycosylation.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Signal | 1-18 | UniProt | |||||
Sequence: MRSLLLLSAFCLLEAALA | |||||||
Chain | PRO_0000032520 | 19-418 | UniProt | Serpin H1 | |||
Sequence: AEVKKPAAAAAPGTAEKLSPKAATLAERSAGLAFSLYQAMAKDQAVENILVSPVVVASSLGLVSLGGKATTASQAKAVLSAEQLRDEEVHAGLGELLRSLSNSTARNVTWKLGSRLYGPSSVSFADDFVRSSKQHYNCEHSKINFRDKRSALQSINEWAAQTTDGKLPEVTKDVERTDGALLVNAMFFKPHWDEKFHHKMVDNRGFMVTRSYTVGVMMMHRTGLYNYYDDEKEKLQIVEMPLAHKLSSLIILMPHHVEPLERLEKLLTKEQLKIWMGKMQKKAVAISLPKGVVEVTHDLQKHLAGLGLTEAIDKNKADLSRMSGKKDLYLASVFHATAFELDTDGNPFDQDIYGREELRSPKLFYADHPFIFLVRDTQSGSLLFIGRLVRPKGDKMRDEL | |||||||
Modified residue (large scale data) | 37 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 94 | UniProt | N6-succinyllysine | ||||
Sequence: K | |||||||
Glycosylation | 120 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 125 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Modified residue (large scale data) | 132 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 139 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 141 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 141 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 149 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 207 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 265 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 296 | UniProt | N6-succinyllysine | ||||
Sequence: K | |||||||
Modified residue | 319 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 327 | PRIDE | Phosphothreonine | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Binary interactions
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Motif | 415-418 | Prevents secretion from ER | ||||
Sequence: RDEL |
Sequence similarities
Belongs to the serpin family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length418
- Mass (Da)46,441
- Last updated2002-01-23 v2
- ChecksumB7719FCA13A55DEB
Computationally mapped potential isoform sequences
There are 12 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YEP8 | H0YEP8_HUMAN | SERPINH1 | 56 | ||
E9PRS3 | E9PRS3_HUMAN | SERPINH1 | 166 | ||
E9PPV6 | E9PPV6_HUMAN | SERPINH1 | 324 | ||
E9PQ34 | E9PQ34_HUMAN | SERPINH1 | 142 | ||
E9PR70 | E9PR70_HUMAN | SERPINH1 | 295 | ||
E9PNX1 | E9PNX1_HUMAN | SERPINH1 | 203 | ||
E9PLA6 | E9PLA6_HUMAN | SERPINH1 | 85 | ||
E9PMI5 | E9PMI5_HUMAN | SERPINH1 | 249 | ||
E9PJH8 | E9PJH8_HUMAN | SERPINH1 | 371 | ||
E9PK86 | E9PK86_HUMAN | SERPINH1 | 247 | ||
E9PKH2 | E9PKH2_HUMAN | SERPINH1 | 201 | ||
E9PIG2 | E9PIG2_HUMAN | SERPINH1 | 165 |
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 7-10 | in Ref. 1; CAA43795 | ||||
Sequence: LSAF → GTL | ||||||
Sequence conflict | 14-15 | in Ref. 1; CAA43795 | ||||
Sequence: EA → AV | ||||||
Sequence conflict | 25-26 | in Ref. 1; CAA43795 | ||||
Sequence: AA → VE | ||||||
Sequence conflict | 38 | in Ref. 1; CAA43795 | ||||
Sequence: P → S | ||||||
Sequence conflict | 41 | in Ref. 1; CAA43795 | ||||
Sequence: A → T | ||||||
Sequence conflict | 46-48 | in Ref. 1; CAA43795 | ||||
Sequence: RSA → PST | ||||||
Sequence conflict | 164 | in Ref. 1; CAA43795 | ||||
Sequence: R → P | ||||||
Sequence conflict | 168-169 | in Ref. 2; BAA11829 | ||||
Sequence: SA → RP | ||||||
Sequence conflict | 235 | in Ref. 1; CAA43795 | ||||
Sequence: M → T | ||||||
Sequence conflict | 255 | in Ref. 1; CAA43795 | ||||
Sequence: I → L | ||||||
Sequence conflict | 270 | in Ref. 9; AAH70087 | ||||
Sequence: L → F | ||||||
Sequence conflict | 409 | in Ref. 1; CAA43795 | ||||
Sequence: P → L |
Polymorphism
A functional SNP in the promoter of SERPINH1 is associated in African Americans with an increased risk for preterm premature rupture of membranes (PPROM) [MIM:610504]. PPROM is defined as rupture of the membranes before 37 weeks of gestation. SERPINH1 with the -656 T allele displays significantly reduced promoter activity compared to the major -656 C allele. Prematurity is correlated with an increased frequency of the -656 T allele.
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X61598 EMBL· GenBank· DDBJ | CAA43795.1 EMBL· GenBank· DDBJ | mRNA | ||
D83174 EMBL· GenBank· DDBJ | BAA11829.1 EMBL· GenBank· DDBJ | mRNA | ||
AB044778 EMBL· GenBank· DDBJ | BAA96788.1 EMBL· GenBank· DDBJ | mRNA | ||
AB044779 EMBL· GenBank· DDBJ | BAA96789.1 EMBL· GenBank· DDBJ | mRNA | ||
AY744367 EMBL· GenBank· DDBJ | AAU95378.1 EMBL· GenBank· DDBJ | mRNA | ||
AY264853 EMBL· GenBank· DDBJ | AAP93914.1 EMBL· GenBank· DDBJ | mRNA | ||
BT007094 EMBL· GenBank· DDBJ | AAP35758.1 EMBL· GenBank· DDBJ | mRNA | ||
AK122936 EMBL· GenBank· DDBJ | BAG53805.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471076 EMBL· GenBank· DDBJ | EAW74974.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC014623 EMBL· GenBank· DDBJ | AAH14623.1 EMBL· GenBank· DDBJ | mRNA | ||
BC036298 EMBL· GenBank· DDBJ | AAH36298.2 EMBL· GenBank· DDBJ | mRNA | ||
BC070087 EMBL· GenBank· DDBJ | AAH70087.1 EMBL· GenBank· DDBJ | mRNA |