Gene: POMT1 ENSG00000130714

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

Show transcript tableHide transcript table

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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000354713.4	POMT1-201	2573	695aa	ENSP00000346748.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DTW4 F5H3Z3 Q5JT05	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000419118.2	POMT1-203	2189	573aa	ENSP00000403032.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H3Z3	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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		-	-	-

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Gene: POMT1 ENSG00000130714

Summary