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
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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000525876.1 | SERPINH1-009 | 2283 | 201aa | ENSP00000433532.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PKH2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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, |