Description
mannose-P-dolichol utilization defect 1 [Source:HGNC Symbol;Acc:7207]
Gene Synonyms
CDGIF, CDGIf, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15
Location
Chromosome 17: 7,486,847-7,496,107 forward strand.
GRCh37:CM000679.1
About this gene
This gene has 27 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000250124.6 | MPDU1-001 | 1601 | 247aa | ENSP00000250124.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11115 | J3KTK8 O75352 | NM_004870.3 | 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, |
| ENST00000396501.4 | MPDU1-022 | 1125 | 192aa | ENSP00000379758.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KTK8 J3QW43 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000423172.2 | MPDU1-006 | 888 | 186aa | ENSP00000414071.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DT74 J3QS48 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000582151.1 | MPDU1-029 | 728 | 52aa | ENSP00000462500.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KSI4 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000579445.1 | MPDU1-026 | 582 | 193aa | ENSP00000464158.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KTK8 J3QRD5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000584378.1 | MPDU1-024 | 475 | 154aa | ENSP00000462839.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KT75 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000581380.1 | MPDU1-028 | 456 | 152aa | ENSP00000463966.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QQZ4 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000585217.1 | MPDU1-025 | 438 | 116aa | ENSP00000463037.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KTK8 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000572936.1 | MPDU1-010 | 1102 | 61aa | ENSP00000459306.1 | Nonsense mediated decay | I3L1D2 | - | - | |
| ENST00000571822.1 | MPDU1-007 | 1020 | 61aa | ENSP00000458741.1 | Nonsense mediated decay | I3L1D2 | - | - | |
| ENST00000572719.1 | MPDU1-009 | 917 | 109aa | ENSP00000459498.1 | Nonsense mediated decay | I3L295 J3QS48 | - | - | |
| ENST00000574558.1 | MPDU1-012 | 900 | 32aa | ENSP00000461499.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000359822.6 | MPDU1-027 | 840 | 61aa | ENSP00000352876.6 | Nonsense mediated decay | I3L1D2 | - | - | |
| ENST00000576272.1 | MPDU1-016 | 809 | 54aa | ENSP00000460864.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000580834.1 | MPDU1-019 | 714 | 109aa | ENSP00000463056.1 | Nonsense mediated decay | I3L295 J3QS48 | - | - | |
| ENST00000570458.1 | MPDU1-015 | 591 | 61aa | ENSP00000459409.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000584479.1 | MPDU1-020 | 572 | 109aa | ENSP00000462229.1 | Nonsense mediated decay | I3L295 J3QS48 | - | - | |
| ENST00000580708.1 | MPDU1-023 | 563 | 101aa | ENSP00000464524.1 | Nonsense mediated decay | J3QS48 | - | - | |
| ENST00000576066.1 | MPDU1-011 | 491 | 75aa | ENSP00000461183.1 | Nonsense mediated decay | I3L4E0 | - | - | |
| ENST00000577088.1 | MPDU1-004 | 1645 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000572836.1 | MPDU1-003 | 1523 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000571877.1 | MPDU1-008 | 1195 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000581886.1 | MPDU1-021 | 924 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000585188.1 | MPDU1-018 | 863 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000571391.1 | MPDU1-013 | 677 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000578267.1 | MPDU1-017 | 582 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000575256.1 | MPDU1-014 | 392 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
