Description
protein-O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:9202]
Gene Synonyms
LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
Location
Chromosome 9: 134,378,289-134,399,193 forward strand.
GRCh37:CM000671.1
About this gene
This gene has 19 transcripts (splice variants), 1 paralogue and is associated with 10 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000423007.1 | POMT1-204 | 3320 | 725aa | ENSP00000404119.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43894 | F5H3Z3 Q5JSZ6 Q5JT05 Q9Y6A1 | NM_001136113.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000372228.3 | POMT1-001 | 3123 | 747aa | ENSP00000361302.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6943 | Q5JSZ6 Q5JT03 Q5JT07 Q9Y6A1 | NM_007171.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000402686.3 | POMT1-003 | 3038 | 725aa | ENSP00000385797.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43894 | F5H3Z3 Q5JSZ6 Q5JT05 Q9Y6A1 | NM_001077365.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000341012.7 | POMT1-002 | 2912 | 671aa | ENSP00000343034.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43895 | F5H3Z3 Q5JT05 Q9Y6A1 | NM_001077366.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000404875.2 | POMT1-202 | 2821 | 608aa | ENSP00000384531.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS48045 | F5H3Z3 Q5JT05 Q9Y6A1 | NM_001136114.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000354713.4 | POMT1-201 | 2573 | 695aa | ENSP00000346748.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DTW4 F5H3Z3 Q5JT05 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000419118.2 | POMT1-203 | 2189 | 573aa | ENSP00000403032.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H3Z3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000372220.4 | POMT1-012 | 1741 | 346aa | ENSP00000361294.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JT02 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000541219.1 | POMT1-205 | 1587 | 465aa | ENSP00000440895.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DI80 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000441334.1 | POMT1-005 | 1168 | 296aa | ENSP00000395060.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JT03 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000415075.1 | POMT1-007 | 847 | 156aa | ENSP00000405149.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JT04 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000418774.1 | POMT1-009 | 812 | 142aa | ENSP00000390737.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DWD8 Q5JSZ6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000448212.1 | POMT1-006 | 791 | 218aa | ENSP00000403736.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JT07 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000430619.1 | POMT1-008 | 691 | 168aa | ENSP00000402083.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JT05 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000485278.1 | POMT1-004 | 3420 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000462375.1 | POMT1-011 | 1001 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000494883.1 | POMT1-014 | 855 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000483472.1 | POMT1-010 | 568 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000467848.1 | POMT1-013 | 461 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
