Description
ER membrane protein complex subunit 1 [Source:HGNC Symbol;Acc:28957]
Gene Synonyms
KIAA0090, RP1-43E13.1
Location
Chromosome 1: 19,542,158-19,578,046 reverse strand.
GRCh37:CM000663.1
About this gene
This gene has 14 transcripts (splice variants) and is associated with 7 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000477853.1 | EMC1-003 | 6664 | 993aa | ENSP00000420608.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS190 | Q8N766 | NM_015047.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000375199.3 | EMC1-009 | 5408 | 992aa | ENSP00000364345.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS59191 | Q8N766 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000375208.3 | EMC1-002 | 4084 | 971aa | ENSP00000364354.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS59190 | Q8N766 | NM_001271429.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000486405.1 | EMC1-013 | 583 | 178aa | ENSP00000419345.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C5A2 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000356068.2 | EMC1-006 | 355 | 75aa | ENSP00000364329.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5TG59 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000475079.1 | EMC1-011 | 557 | 75aa | ENSP00000418481.1 | Nonsense mediated decay | Q5TG59 | - | - | |
| ENST00000486238.1 | EMC1-015 | 425 | 86aa | ENSP00000417070.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000480380.1 | EMC1-007 | 3892 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000461353.1 | EMC1-008 | 2175 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000467423.1 | EMC1-005 | 1767 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000494770.1 | EMC1-004 | 780 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000496654.1 | EMC1-014 | 159 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000488681.1 | EMC1-010 | 562 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000462505.1 | EMC1-012 | 524 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
