Description
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) [Source:HGNC Symbol;Acc:6901]
Gene Synonyms
3MC1, CRARF, CRARF1, MAP1, MASP, MASP3, MAp44, PRSS5, RaRF
Location
Chromosome 3: 186,935,942-187,009,810 reverse strand.
GRCh37:CM000665.1
About this gene
This gene has 15 transcripts (splice variants), 12 paralogues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000296280.6 | MASP1-003 | 4015 | 728aa | ENSP00000296280.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33908 | C9JLU5 P48740 Q9NSY8 | NM_139125.3 | 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, |
| ENST00000337774.5 | MASP1-001 | 4407 | 699aa | ENSP00000336792.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33907 | C9JLU5 P48740 | NM_001879.5 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000392472.2 | MASP1-005 | 3900 | 615aa | ENSP00000376264.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | P48740 Q9NSY8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000169293.6 | MASP1-002 | 2440 | 380aa | ENSP00000169293.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33909 | C9JLU5 F8W876 P48740 | NM_001031849.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000392470.2 | MASP1-004 | 1673 | 354aa | ENSP00000376262.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JLU5 F8W876 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000392475.2 | MASP1-007 | 962 | 204aa | ENSP00000376267.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JLU5 C9JMA2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000425937.1 | MASP1-010 | 553 | 55aa | ENSP00000409047.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JLU5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000439271.1 | MASP1-008 | 542 | 118aa | ENSP00000412021.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J1C7 C9JLU5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000495249.1 | MASP1-009 | 587 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000490558.1 | MASP1-013 | 563 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000465015.1 | MASP1-012 | 510 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000468121.1 | MASP1-014 | 498 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000480349.1 | MASP1-006 | 5982 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000460839.1 | MASP1-011 | 770 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000483719.1 | MASP1-015 | 410 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
