Description
complement component 1, r subcomponent [Source:HGNC Symbol;Acc:1246]
Location
Chromosome 12: 7,187,513-7,245,203 reverse strand.
GRCh37:CM000674.1
About this gene
This gene has 17 transcripts (splice variants), 12 paralogues and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000542285.1 | C1R-201 | 2112 | 653aa | ENSP00000438615.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GWL0 F5H1N6 F5H3A3 H0YFH3 | - | 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, | |
| ENST00000542220.2 | C1R-001 | 1257 | 346aa | ENSP00000438682.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GWL0 F5H1N6 F5H3A3 F6T9X8 | NM_001733.4 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000602480.1 | C1R-002 | 1168 | 281aa | ENSP00000474998.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | NM_001733.4 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000536053.2 | C1R-003 | 1156 | 360aa | ENSP00000444271.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DPQ0 F5GWL0 F5GZR1 F5H1N6 F5H3A3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000535233.2 | C1R-004 | 1020 | 312aa | ENSP00000438636.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H2D0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000602286.1 | C1R-005 | 956 | 281aa | ENSP00000473278.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000541042.1 | C1R-007 | 591 | 71aa | ENSP00000441601.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GWL0 F5H1N6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000540242.1 | C1R-008 | 575 | 156aa | ENSP00000442946.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H6Y3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000538050.1 | C1R-009 | 553 | 49aa | ENSP00000444009.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H1N6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000543835.1 | C1R-010 | 521 | 156aa | ENSP00000445285.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GWL0 F5H1N6 F5H3N3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000540610.1 | C1R-011 | 519 | 93aa | ENSP00000439223.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GWL0 F5H1N6 F5H3A3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000543362.1 | C1R-006 | 832 | 144aa | ENSP00000446356.1 | Nonsense mediated decay | F5H1V0 | - | - | |
| ENST00000602298.1 | C1R-015 | 564 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000540394.2 | C1R-012 | 2103 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000536092.1 | C1R-013 | 632 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000545466.1 | C1R-014 | 597 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000543851.1 | C1R-016 | 476 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
