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 11 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
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 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
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, |
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 | - | - | - |