SERPINH1

GENERAL INFORMATION

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Gene name

SERPINH1

Gene description

Serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

14
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in selected cells, including fibroblasts. Distinct positivity in extracellular matrix.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA029198 , CAB004441
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

SERPINH1 (HGNC Symbol)

Synonyms

CBP1, CBP2, colligen, HSP47, SERPINH2

Description

Serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (HGNC Symbol)

Entrez gene summary

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]

Chromosome

11

Cytoband

q13.5

Chromosome location (bp)

75562056 - 75572783

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000149257 (version 78.38)

Entrez gene

871

UniProt

P50454 (UniProt - Evidence at protein level)

neXtProt

NX_P50454

Antibodypedia

SERPINH1 antibodies


PROTEIN BROWSER

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ENST00000358171
 
ENST00000524558
 
ENST00000525492
 
ENST00000525611
 
ENST00000525876
 
ENST00000526242
 
ENST00000526397
 
ENST00000528760
 
ENST00000528990
 
ENST00000529643
 
ENST00000530284
 
ENST00000532356
 
ENST00000533449
 
ENST00000533603
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SERPINH1-001 ENSP00000434657
ENST00000533603
P50454
Show all »
Show » Show » 418 46.4 Yes 0
SERPINH1-003 ENSP00000436305
ENST00000530284
E9PPV6
Show all »
Show » Show » 324 35.7 Yes 0
SERPINH1-004 ENSP00000350894
ENST00000358171
P50454
Show all »
Show » Show » 418 46.4 Yes 0
SERPINH1-006 ENSP00000434412
ENST00000524558
P50454
Show all »
Show » Show » 418 46.4 Yes 0
SERPINH1-009 ENSP00000433532
ENST00000525876
E9PKH2
Show all »
Show » Show » 201 23.1 No 0
SERPINH1-010 ENSP00000431384
ENST00000526242
E9PLA6
Show all »
Show » Show » 86 8.9 Yes 0
SERPINH1-011 ENSP00000434964
ENST00000526397
E9PMI5
Show all »
Show » Show » 249 27.2 Yes 0
SERPINH1-012 ENSP00000435936
ENST00000529643
E9PRS3
Show all »
Show » Show » 167 17.6 Yes 0
SERPINH1-013 ENSP00000434482
ENST00000525492
E9PQ34
Show all »
Show » Show » 142 15.3 Yes 0
SERPINH1-014 ENSP00000432007
ENST00000528990
E9PIG2
Show all »
Show » Show » 165 17.4 Yes 0
SERPINH1-015 ENSP00000431827
ENST00000533449
E9PJH8
Show all »
Show » Show » 150 15.5 Yes 0
SERPINH1-016 ENSP00000435452
ENST00000525611
E9PK86
Show all »
Show » Show » 247 27 Yes 0
SERPINH1-017 ENSP00000437108
ENST00000528760
E9PNX1
Show all »
Show » Show » 203 21.5 Yes 0
SERPINH1-018 ENSP00000436040
ENST00000532356
E9PR70
Show all »
Show » Show » 295 32.6 Yes 0