Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SERPINH1 (serpin family H member 1)

Identity

Alias_namesCBP1
CBP2
SERPINH2
serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2
serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
Alias_symbol (synonym)HSP47
colligen
Other aliasAsTP3
OI10
PIG14
PPROM
RA-A47
gp46
HGNC (Hugo) SERPINH1
LocusID (NCBI) 871
Atlas_Id 46500
Location 11q13.5  [Link to chromosome band 11q13]
Location_base_pair Starts at 75562056 and ends at 75572804 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HBG2 (11p15.4) / SERPINH1 (11q13.5)HN1L (16p13.3) / SERPINH1 (11q13.5)SERPINH1 (11q13.5) / AP2M1 (3q27.1)
SERPINH1 (11q13.5) / TPI1 (12p13.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SERPINH1   1546
Cards
Entrez_Gene (NCBI)SERPINH1  871  serpin family H member 1
AliasesAsTP3; CBP1; CBP2; HSP47; 
OI10; PIG14; PPROM; RA-A47; SERPINH2; gp46
GeneCards (Weizmann)SERPINH1
Ensembl hg19 (Hinxton)ENSG00000149257 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149257 [Gene_View]  ENSG00000149257 [Sequence]  chr11:75562056-75572804 [Contig_View]  SERPINH1 [Vega]
ICGC DataPortalENSG00000149257
TCGA cBioPortalSERPINH1
AceView (NCBI)SERPINH1
Genatlas (Paris)SERPINH1
WikiGenes871
SOURCE (Princeton)SERPINH1
Genetics Home Reference (NIH)SERPINH1
Genomic and cartography
GoldenPath hg38 (UCSC)SERPINH1  -     chr11:75562056-75572804 +  11q13.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SERPINH1  -     11q13.5   [Description]    (hg19-Feb_2009)
EnsemblSERPINH1 - 11q13.5 [CytoView hg19]  SERPINH1 - 11q13.5 [CytoView hg38]
Mapping of homologs : NCBISERPINH1 [Mapview hg19]  SERPINH1 [Mapview hg38]
OMIM600943   610504   613848   
Gene and transcription
Genbank (Entrez)AB044778 AB044779 AI926019 AK075504 AK094047
RefSeq transcript (Entrez)NM_001207014 NM_001235
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SERPINH1
Cluster EST : UnigeneHs.596449 [ NCBI ]
CGAP (NCI)Hs.596449
Alternative Splicing GalleryENSG00000149257
Gene ExpressionSERPINH1 [ NCBI-GEO ]   SERPINH1 [ EBI - ARRAY_EXPRESS ]   SERPINH1 [ SEEK ]   SERPINH1 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPINH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)871
GTEX Portal (Tissue expression)SERPINH1
Human Protein AtlasENSG00000149257-SERPINH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50454   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50454  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50454
Splice isoforms : SwissVarP50454
PhosPhoSitePlusP50454
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    SERPIN (PS00284)   
Domains : Interpro (EBI)Serpin_CS    Serpin_dom    Serpin_fam    Serpin_H1_domain    Serpin_sf    SERPINH1   
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
Conserved Domain (NCBI)SERPINH1
DMDM Disease mutations871
Blocks (Seattle)SERPINH1
SuperfamilyP50454
Human Protein Atlas [tissue]ENSG00000149257-SERPINH1 [tissue]
Peptide AtlasP50454
HPRD02968
IPIIPI00032140   IPI00910487   IPI00981068   IPI00980095   IPI00978011   IPI00981937   IPI00979587   IPI00978907   IPI00976532   IPI00981668   IPI00985439   IPI00984900   IPI00984026   
Protein Interaction databases
DIP (DOE-UCLA)P50454
IntAct (EBI)P50454
FunCoupENSG00000149257
BioGRIDSERPINH1
STRING (EMBL)SERPINH1
ZODIACSERPINH1
Ontologies - Pathways
QuickGOP50454
Ontology : AmiGOchondrocyte development involved in endochondral bone morphogenesis  RNA binding  serine-type endopeptidase inhibitor activity  collagen binding  extracellular space  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum-Golgi intermediate compartment  response to unfolded protein  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  collagen fibril organization  collagen biosynthetic process  membrane raft  unfolded protein binding  protein maturation  
Ontology : EGO-EBIchondrocyte development involved in endochondral bone morphogenesis  RNA binding  serine-type endopeptidase inhibitor activity  collagen binding  extracellular space  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum-Golgi intermediate compartment  response to unfolded protein  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  collagen fibril organization  collagen biosynthetic process  membrane raft  unfolded protein binding  protein maturation  
NDEx NetworkSERPINH1
Atlas of Cancer Signalling NetworkSERPINH1
Wikipedia pathwaysSERPINH1
Orthology - Evolution
OrthoDB871
GeneTree (enSembl)ENSG00000149257
Phylogenetic Trees/Animal Genes : TreeFamSERPINH1
HOVERGENP50454
HOGENOMP50454
Homologs : HomoloGeneSERPINH1
Homology/Alignments : Family Browser (UCSC)SERPINH1
Gene fusions - Rearrangements
Fusion : QuiverSERPINH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSERPINH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPINH1
dbVarSERPINH1
ClinVarSERPINH1
1000_GenomesSERPINH1 
Exome Variant ServerSERPINH1
ExAC (Exome Aggregation Consortium)ENSG00000149257
GNOMAD BrowserENSG00000149257
Varsome BrowserSERPINH1
Genetic variants : HAPMAP871
Genomic Variants (DGV)SERPINH1 [DGVbeta]
DECIPHERSERPINH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSERPINH1 
Mutations
ICGC Data PortalSERPINH1 
TCGA Data PortalSERPINH1 
Broad Tumor PortalSERPINH1
OASIS PortalSERPINH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSERPINH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSERPINH1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Osteogenesis Imperfecta Variant Database
BioMutasearch SERPINH1
DgiDB (Drug Gene Interaction Database)SERPINH1
DoCM (Curated mutations)SERPINH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SERPINH1 (select a term)
intoGenSERPINH1
Cancer3DSERPINH1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600943    610504    613848   
Orphanet18793   
DisGeNETSERPINH1
MedgenSERPINH1
Genetic Testing Registry SERPINH1
NextProtP50454 [Medical]
TSGene871
GENETestsSERPINH1
Target ValidationSERPINH1
Huge Navigator SERPINH1 [HugePedia]
snp3D : Map Gene to Disease871
BioCentury BCIQSERPINH1
ClinGenSERPINH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD871
Chemical/Pharm GKB GenePA35034
Clinical trialSERPINH1
Miscellaneous
canSAR (ICR)SERPINH1 (select the gene name)
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSERPINH1
EVEXSERPINH1
GoPubMedSERPINH1
iHOPSERPINH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:51:38 CEST 2018
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