Description
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Source:HGNC Symbol;Acc:19139]
Gene Synonyms
FLJ20277, GNTI.2, GnT I.2, LGMD2O, MDDGA3, MDDGB3, MDDGC3, MEB, MGAT1.2, gnT-I.2
Location
Chromosome 1: 46,654,354-46,685,977 reverse strand.
GRCh37:CM000663.1
About this gene
This gene has 12 transcripts (splice variants), 1 paralogue and is associated with 13 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000396420.3 | POMGNT1-202 | 3480 | 200aa | ENSP00000379698.3 | Protein coding | Q68CV6 | - | GENCODE basic, | |
ENST00000371992.1 | POMGNT1-002 | 2934 | 748aa | ENSP00000361060.1 | Protein coding | CCDS57995 | Q5VST3 | NM_001243766.1 | GENCODE basic, |
ENST00000371984.3 | POMGNT1-001 | 2728 | 660aa | ENSP00000361052.3 | Protein coding | CCDS531 | Q8WZA1 | NM_017739.3 | GENCODE basic, |
ENST00000371986.3 | POMGNT1-201 | 2388 | 748aa | ENSP00000361054.3 | Protein coding | CCDS57995 | Q5VST3 | - | GENCODE basic, |
ENST00000535522.1 | POMGNT1-203 | 2355 | 638aa | ENSP00000443767.1 | Protein coding | F5H827 | - | GENCODE basic, | |
ENST00000485714.1 | POMGNT1-004 | 2906 | No protein | - | Processed transcript | - | - | - | |
ENST00000489985.1 | POMGNT1-003 | 1094 | No protein | - | Processed transcript | - | - | - | |
ENST00000497439.1 | POMGNT1-008 | 846 | No protein | - | Processed transcript | - | - | - | |
ENST00000477114.1 | POMGNT1-009 | 770 | No protein | - | Processed transcript | - | - | - | |
ENST00000463030.1 | POMGNT1-007 | 642 | No protein | - | Processed transcript | - | - | - | |
ENST00000480972.1 | POMGNT1-006 | 483 | No protein | - | Processed transcript | - | - | - | |
ENST00000475642.1 | POMGNT1-005 | 407 | No protein | - | Processed transcript | - | - | - |