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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000396501.4 | MPDU1-022 | 1125 | 192aa | ENSP00000379758.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KTK8 J3QW43 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000423172.2 | MPDU1-006 | 888 | 186aa | ENSP00000414071.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DT74 J3QS48 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000582151.1 | MPDU1-029 | 728 | 52aa | ENSP00000462500.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KSI4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
