Gene: SERPINH1 ENSG00000149257

Description

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) [Source:HGNC Symbol;Acc:1546]

Gene Synonyms

AsTP3, CBP1, CBP2, HSP47, OI10, PPROM, RA-A47, SERPINH2, colligen, gp46

Location

Chromosome 11: 75,273,101-75,283,828 forward strand.

GRCh37:CM000673.1

About this gene

This gene has 15 transcripts (splice variants) and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000524558.1	SERPINH1-006	3391	418aa	ENSP00000434412.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8239	B4DN87 E9PIG2 E9PJH8 E9PK86 E9PKH2 E9PMI5 E9PNX1 E9PR70 E9PRS3 P50454 Q9NPA9	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000533603.1	SERPINH1-001	2299	418aa	ENSP00000434657.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8239	B4DN87 E9PIG2 E9PJH8 E9PK86 E9PKH2 E9PMI5 E9PNX1 E9PR70 E9PRS3 P50454 Q9NPA9	NM_001207014.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000525876.1	SERPINH1-009	2283	201aa	ENSP00000433532.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PKH2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000358171.3	SERPINH1-004	2225	418aa	ENSP00000350894.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8239	B4DN87 E9PIG2 E9PJH8 E9PK86 E9PKH2 E9PMI5 E9PNX1 E9PR70 E9PRS3 P50454 Q9NPA9	NM_001235.3	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000530284.1	SERPINH1-003	1358	324aa	ENSP00000436305.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIG2 E9PJH8 E9PK86 E9PMI5 E9PNX1 E9PPV6 E9PR70 E9PRS3 Q9NPA9	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000532356.1	SERPINH1-018	998	295aa	ENSP00000436040.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIG2 E9PJH8 E9PK86 E9PMI5 E9PNX1 E9PR70 E9PRS3 Q9NPA9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000525611.1	SERPINH1-016	974	247aa	ENSP00000435452.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIG2 E9PJH8 E9PK86 E9PNX1 E9PRS3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000526397.1	SERPINH1-011	882	249aa	ENSP00000434964.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIG2 E9PJH8 E9PK86 E9PMI5 E9PNX1 E9PRS3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000528760.1	SERPINH1-017	773	203aa	ENSP00000437108.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIG2 E9PJH8 E9PNX1 E9PRS3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000529643.1	SERPINH1-012	660	166aa	ENSP00000435936.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIG2 E9PJH8 E9PRS3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000528990.1	SERPINH1-014	587	165aa	ENSP00000432007.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIG2 E9PJH8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000533449.1	SERPINH1-015	582	150aa	ENSP00000431827.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PJH8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000525492.1	SERPINH1-013	529	142aa	ENSP00000434482.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PQ34	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000526242.1	SERPINH1-010	474	85aa	ENSP00000431384.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PLA6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000526638.1	SERPINH1-019	719	56aa	ENSP00000436306.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,

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Gene: SERPINH1 ENSG00000149257

Summary