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 | - | 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, 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, |
