Description
RanBP-type and C3HC4-type zinc finger containing 1 [Source:HGNC Symbol;Acc:15864]
Gene Synonyms
C20orf18, HOIL-1, HOIL1, RBCK2, RNF54, UBCE7IP3, XAP3, XAP4, ZRANB4
Location
Chromosome 20: 388,142-411,610 forward strand.
GRCh37:CM000682.1
About this gene
This gene has 13 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000356286.5 | RBCK1-010 | 2774 | 510aa | ENSP00000348632.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13000 | Q5JWR1 Q9BYM8 | NM_031229.2 | 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, |
| ENST00000353660.3 | RBCK1-009 | 2511 | 468aa | ENSP00000254960.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS12998 | Q9BYM8 | NM_006462.4 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000382181.2 | RBCK1-006 | 2208 | 340aa | ENSP00000371616.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A6PVK0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000475269.1 | RBCK1-001 | 1200 | 105aa | ENSP00000417173.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A6PVJ6 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000441733.1 | RBCK1-013 | 961 | 116aa | ENSP00000387799.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A6PVJ7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000400247.3 | RBCK1-002 | 790 | 63aa | ENSP00000383106.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A6PVJ5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000414880.1 | RBCK1-007 | 765 | 255aa | ENSP00000393841.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000411647.1 | RBCK1-004 | 593 | 117aa | ENSP00000415080.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JWR1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000382214.3 | RBCK1-005 | 2752 | 336aa | ENSP00000371649.3 | Nonsense mediated decay | G3XAG9 Q5JWR1 | - | - | |
| ENST00000415942.1 | RBCK1-011 | 2613 | 272aa | ENSP00000405288.1 | Nonsense mediated decay | B4DML5 Q5JWR1 | - | - | |
| ENST00000400245.3 | RBCK1-003 | 1024 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000465226.1 | RBCK1-012 | 372 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000468272.1 | RBCK1-008 | 1486 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
