SERPINH1 (serpin family H member 1)

2007-02-01  

Identity

HGNC
LOCATION
11q13.5
LOCUSID
ALIAS
AsTP3,CBP1,CBP2,HSP47,OI10,PIG14,PPROM,RA-A47,SERPINH2,gp46
FUSION GENES

Other Information

Locus ID:

NCBI: 871
MIM: 600943
HGNC: 1546
Ensembl: ENSG00000149257

Variants:

dbSNP: 871
ClinVar: 871
TCGA: ENSG00000149257
COSMIC: SERPINH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149257ENST00000358171P50454
ENSG00000149257ENST00000358171A0A024R5K8
ENSG00000149257ENST00000524558P50454
ENSG00000149257ENST00000524558A0A024R5K8
ENSG00000149257ENST00000525492E9PQ34
ENSG00000149257ENST00000525611E9PK86
ENSG00000149257ENST00000525876E9PKH2
ENSG00000149257ENST00000526242E9PLA6
ENSG00000149257ENST00000526397E9PMI5
ENSG00000149257ENST00000526638H0YEP8
ENSG00000149257ENST00000528760E9PNX1
ENSG00000149257ENST00000528990E9PIG2
ENSG00000149257ENST00000529643E9PRS3
ENSG00000149257ENST00000530284E9PPV6
ENSG00000149257ENST00000532356E9PR70
ENSG00000149257ENST00000533449E9PJH8
ENSG00000149257ENST00000533603P50454
ENSG00000149257ENST00000533603A0A024R5K8
ENSG00000149257ENST00000649490E9PPV6

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
180936172008Pirfenidone inhibits the expression of HSP47 in TGF-beta1-stimulated human lung fibroblasts.40
169388792006A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans.33
169388792006A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans.33
241416962013Tumor-suppressive microRNA-29a inhibits cancer cell migration and invasion via targeting HSP47 in cervical squamous cell carcinoma.32
188187482008Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.31
195275142009Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants.31
257447162015Chaperone Hsp47 Drives Malignant Growth and Invasion by Modulating an ECM Gene Network.27
164842152006Specific recognition of the collagen triple helix by chaperone HSP47. II. The HSP47-binding structural motif in collagens and related proteins.26
190193352009Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants.26
200430752010An 8-gene signature, including methylated and down-regulated glutathione peroxidase 3, of gastric cancer.24

Citation

Dessen P

SERPINH1 (serpin family H member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46500/serpinh1