Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SERPINH1 (serpin family H member 1)

Identity

Alias (NCBI)AsTP3
CBP1
CBP2
HSP47
OI10
PIG14
PPROM
RA-A47
SERPINH2
gp46
HGNC (Hugo) SERPINH1
HGNC Alias symbHSP47
HGNC Alias namecollagen binding protein 1
 colligen
HGNC Previous nameCBP1
 CBP2
 SERPINH2
HGNC Previous nameserine (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)
LocusID (NCBI) 871
Atlas_Id 46500
Location 11q13.5  [Link to chromosome band 11q13]
Location_base_pair Starts at 75562253 and ends at 75572783 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    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]  chr11:75562253-75572783 [Contig_View]  SERPINH1 [Vega]
ICGC DataPortalENSG00000149257
TCGA cBioPortalSERPINH1
AceView (NCBI)SERPINH1
Genatlas (Paris)SERPINH1
SOURCE (Princeton)SERPINH1
Genetics Home Reference (NIH)SERPINH1
Genomic and cartography
GoldenPath hg38 (UCSC)SERPINH1  -     chr11:75562253-75572783 +  11q13.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SERPINH1  -     11q13.5   [Description]    (hg19-Feb_2009)
GoldenPathSERPINH1 - 11q13.5 [CytoView hg19]  SERPINH1 - 11q13.5 [CytoView hg38]
ImmunoBaseENSG00000149257
Genome Data Viewer NCBISERPINH1 [Mapview hg19]  
OMIM600943   610504   613848   
Gene and transcription
Genbank (Entrez)AB044778 AB044779 AI926019 AK075504 AK094047
RefSeq transcript (Entrez)NM_001207014 NM_001235
Consensus coding sequences : CCDS (NCBI)SERPINH1
Gene ExpressionSERPINH1 [ NCBI-GEO ]   SERPINH1 [ EBI - ARRAY_EXPRESS ]   SERPINH1 [ SEEK ]   SERPINH1 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPINH1 [ Firebrowse - Broad ]
GenevisibleExpression of SERPINH1 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
PhosPhoSitePlusP50454
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    SERPIN (PS00284)   
Domains : Interpro (EBI)Serpin_CS    Serpin_dom    Serpin_fam    Serpin_H1_domain    Serpin_sf    Serpin_sf_1    Serpin_sf_2    SERPINH1   
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
Conserved Domain (NCBI)SERPINH1
SuperfamilyP50454
AlphaFold pdb e-kbP50454   
Human Protein Atlas [tissue]ENSG00000149257-SERPINH1 [tissue]
HPRD02968
Protein Interaction databases
DIP (DOE-UCLA)P50454
IntAct (EBI)P50454
BioGRIDSERPINH1
STRING (EMBL)SERPINH1
ZODIACSERPINH1
Ontologies - Pathways
QuickGOP50454
Ontology : AmiGOchondrocyte development involved in endochondral bone morphogenesis  RNA binding  serine-type endopeptidase inhibitor activity  protein binding  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  collagen fibril organization  collagen fibril organization  collagen biosynthetic process  membrane raft  unfolded protein binding  protein maturation  collagen-containing extracellular matrix  collagen-containing extracellular matrix  
Ontology : EGO-EBIchondrocyte development involved in endochondral bone morphogenesis  RNA binding  serine-type endopeptidase inhibitor activity  protein binding  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  collagen fibril organization  collagen fibril organization  collagen biosynthetic process  membrane raft  unfolded protein binding  protein maturation  collagen-containing extracellular matrix  collagen-containing extracellular matrix  
NDEx NetworkSERPINH1
Atlas of Cancer Signalling NetworkSERPINH1
Wikipedia pathwaysSERPINH1
Orthology - Evolution
OrthoDB871
GeneTree (enSembl)ENSG00000149257
Phylogenetic Trees/Animal Genes : TreeFamSERPINH1
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
MonarchSERPINH1
1000_GenomesSERPINH1 
Exome Variant ServerSERPINH1
GNOMAD BrowserENSG00000149257
Varsome BrowserSERPINH1
ACMGSERPINH1 variants
VarityP50454
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]  
Somatic Mutations in Cancer : COSMIC3DSERPINH1
Mutations and Diseases : HGMDSERPINH1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSERPINH1
DgiDB (Drug Gene Interaction Database)SERPINH1
DoCM (Curated mutations)SERPINH1
CIViC (Clinical Interpretations of Variants in Cancer)SERPINH1
Cancer3DSERPINH1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600943    610504    613848   
Orphanet18793   
DisGeNETSERPINH1
MedgenSERPINH1
Genetic Testing Registry SERPINH1
NextProtP50454 [Medical]
GENETestsSERPINH1
Target ValidationSERPINH1
Huge Navigator SERPINH1 [HugePedia]
ClinGenSERPINH1
Clinical trials, drugs, therapy
MyCancerGenomeSERPINH1
Protein Interactions : CTDSERPINH1
Pharm GKB GenePA35034
PharosP50454
Clinical trialSERPINH1
Miscellaneous
canSAR (ICR)SERPINH1
HarmonizomeSERPINH1
DataMed IndexSERPINH1
Probes
Litterature
PubMed184 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSERPINH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:30:43 CEST 2021
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.