POMT1 Gene
protein-coding GIFtS: 60
GCID: GC09P134378
|
|
protein-O-mannosyltransferase 1
| |
Aliases
for POMT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Protein-O-Mannosyltransferase 11 2 | | MDDGB12 5 | | LGMD2K1 2 | | MDDGC12 5 | | Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 12 3 | | RT2 | | EC 2.4.1.1093 8 | | Protein O-Mannosyl-Transferase 12 | | MDDGA12 5 | | EC 2.4.18 |
Export aliases for POMT1 gene to outside databasesPrevious GC identifers: GC09P125393 GC09P125924 GC09P127731 GC09P129655 GC09P129656 GC09P131409 GC09P133369 GC09P103872 |
Summaries
for POMT1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for POMT1:
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects inthis gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Severaltranscript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Oct 2008)
UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1Function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient
Gene Wiki entry for POMT1
|
Genomic Views
for POMT1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_035014.4
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the POMT1 gene promoter:
GR AhR Pax-5 p53 GR-beta Nkx2-5 NF-kappaB Max GR-alpha NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for POMT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POMT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q34.1 Ensembl cytogenetic band: 9q34.13 HGNC cytogenetic band: 9q34.1POMT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P134378: view genomic region
(about GC identifiers)
Start:
|
134,378,289 bp from pter |
End:
|
134,399,193 bp from pter |
Size:
|
20,905 bases |
Orientation:
|
plus strand |
|
Proteins
for POMT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1 (See
protein sequence)Recommended Name: Protein O-mannosyl-transferase 1 Size: 747 amino acids; 84881 Da
Cofactor: Magnesium. Manganese and calcium ions suppress enzyme activity
Subunit: Interacts with POMT2 (Probable)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAA91135.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAA91190.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KQG0 B4DIF0 Q5JT01 Q5JT06 Q5JT08 Q8NC91 Q8TCA9 Q9NX32 Q9NX82 Q9UNT2Alternative splicing: 4 isoforms: Q9Y6A1-1 Q9Y6A1-2 Q9Y6A1-3 Q9Y6A1-4 Explore the universe of human proteins at neXtProt for POMT1: NX_Q9Y6A1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y6A1
3 DME Specific Peptides for POMT1 (Q9Y6A1)
POMT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001070833.1 NP_001070834.1 NP_001129585.1 NP_001129586.1 NP_009102.3
ENSEMBL proteins: ENSP00000343034 ENSP00000395060 ENSP00000361302 ENSP00000385797 ENSP00000390737 ENSP00000405149 ENSP00000403736 ENSP00000402083 ENSP00000361294 ENSP00000404119 ENSP00000346748 ENSP00000440895 ENSP00000384531 ENSP00000403032
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
POMT1 for ontologies About GeneDecksing
POMT1 Antibody Products:
Assay Products for POMT1: |
Protein
Domains /
Families
for POMT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
POMT1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y6A1ProtoNet protein and cluster: Q9Y6A1 2 Blocks protein families: IPB003342 Glycosyl transferase IPB003608 MIR domain
UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1Similarity: Belongs to the glycosyltransferase 39 familySimilarity: Contains 3 MIR domains |
Function
for POMT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1Function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficientCatalytic activity: Dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein Genatlas biochemistry entry for POMT1:putative O-mannosyltransferase 1,Drosophila melanogaster rotated abdomen homolog protein,ubiquitously expressed withhighest levels in testis and fetal brain with several alternatively spliced isoforms
Enzyme Numbers (IUBMB): EC 2.4.1.1091 2 EC 2.4.12
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POMT1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POMT1 (see all 5)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): POMT1 (NM_007171) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for POMT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POMT1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMT1 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000030 | mannosyltransferase activity |
TAS | 10366449 | | GO:0004169 | dolichyl-phosphate-mannose-protein mannosyltransferase activity |
IEA | -- | | GO:0016757 | transferase activity, transferring glycosyl groups |
-- | -- | | GO:0046872 | metal ion binding |
IEA | -- |
POMT1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Pomt1tm1Jec for POMT1
6 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Pomt1):
POMT1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for POMT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Glucuronidation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for POMT1):
UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1Pathway: Protein modification; protein glycosylation
POMT1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POMT1
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
3 Interacting proteins for POMT1 (Q9Y6A13 ENSP000003613024) via UniProtKB, MINT, STRING, and/or I2D
About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
POMT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for POMT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
POMT1 for compounds About GeneDecksing
 Browse Tocris compounds for POMT1
5 HMDB Compounds for POMT1 About this table
1 Novoseek chemical compound relationship for POMT1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mannose |
37 |
1 |
15522202 (1) |
Search CenterWatch for drugs/clinical trials and news about POMT1
|
Transcripts
for POMT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for POMT1 gene (5 alternative transcripts): NM_001077365.1 NM_001077366.1 NM_001136113.1 NM_001136114.1 NM_007171.3 Unigene Cluster for POMT1: Protein-O-mannosyltransferase 1 Hs.522449 [show with all ESTs]Unigene Representative Sequence: AB20943018/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19): ENST00000341012 ENST00000441334 ENST00000372228(uc011mci.1 uc004cav.3)
ENST00000402686 ENST00000418774 ENST00000415075 ENST00000448212 ENST00000483472
ENST00000430619 ENST00000462375 ENST00000485278 ENST00000372220 ENST00000467848
ENST00000494883 ENST00000423007(uc004cax.3 uc004cau.3 uc004caw.3 uc011mcm.2)
ENST00000354713 ENST00000541219 ENST00000404875(uc011mcj.2 uc011mck.2 uc011mcl.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POMT1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POMT1 (see all 5)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): POMT1 (NM_007171) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for POMT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POMT1 |
Additional cDNA sequence: AB209430.1 AF095136.1 AK000475.1 AK074874.1 AK074888.1 AK293529.1 AK295458.1 AK295561.1 AK299646.1 AK300393.1 AK300511.1 AK301486.1 AK303254.1 AK307876.1 AK315218.1 BC022877.2 BC065268.1 24/25 DOTS entries (see all 25): DT.446531 DT.92456445 DT.100790165 DT.102830622 DT.95274459 DT.100790164 DT.121187477 DT.97789486 DT.97781658 DT.92456455 DT.92021625 DT.95274456 DT.100790163 DT.100028994 DT.100809890 DT.101974502 DT.121187546 DT.95274455 DT.121187476 DT.121187492 DT.121187576 DT.121187630 DT.121187444 DT.91942454 24/222 AceView cDNA sequences (see all 222): BQ887444 AL515260 BU171285 AL545318 CK821379 CD671818 AL040643 AU279978 AI241922 AA464150 BE018704 CO246360 AA300405 BF984005 BM834730 BU193536 BQ787250 BP352997 BM707722 CA454845 N26485 BU171209 BP380293 BU727027
GeneLoc Exon Structure
5/22 Alternative Splicing Database (ASD) splice patterns (SP) for POMT1 (see all 22) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | - | | - | | | | - | | | | | | | | - | | - | | | | | | - | | | | | | | | - | | | | | | - | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | - | | - | | | | | | - | | | | | | | | - | | | | | | - | | |
| SP3: | | | | | | | | | | | | | | | - | | - | | - | | - | | | | | | | | - | | - | | | | | | - | | | | | | | | - | | | | | | - | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | - | | | | | | | | - | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 9c | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c | · | 15d | ^ | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ |
|---|
|
| SP1: | - | | - | | | | | | | | | | | | - | | - | | - | | | | | | | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | |
| SP2: | - | | - | | | | | | | | | | | | - | | - | | - | | | | | | | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | |
| SP3: | - | | - | | | | | | | | | | | | - | | - | | - | | | | | | | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | |
| SP4: | - | | - | | | | | | | | | | | | - | | - | | - | | | | | | | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | |
| ExUns: | 21 | ^ | 22a | · | 22b | ^ | 23 |
|---|
|
| SP1: | | | | | | | | | |
| SP2: | | | | | | | | | |
| SP3: | | | | | | | | | |
| SP4: | | | | | | | | | |
| SP5: | | | | | | | | |
ECgene alternative splicing isoforms for POMT1
|
Expression
for POMT1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| POMT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTTTGTCTT
About this image
See POMT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POMT1
SOURCE GeneReport for Unigene cluster: Hs.522449
UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1Tissue specificity: Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels inkidney, skeletal muscle, brain, placenta, lung and liver
SABiosciences Expression via Pathway-Focused PCR Array including POMT1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for POMT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat POMT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POMT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POMT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMT1 |
Orthologs
for POMT1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals and fungi.
Orthologs for POMT1 gene from 6/25 species (see all 25) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
POMT11 |
protein-O-mannosyltransferase 1 |
74(n)
77.18(a) |
|
417175 NM_001030685.1 NP_001025856.1 |
lizard
(Anolis carolinensis) |
Reptilia |
POMT16 |
-- |
45(a) |
possible ortholog |
GL344906.1(1382-7292) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.188292 |
Transcribed sequence with weak similarity to protein more |
73.18(n) |
|
CF272127.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
pomt11 |
protein-O-mannosyltransferase 1 |
66.06(n)
67.46(a) |
|
569769 NM_001048067.2 NP_001041532.2 |
fruit fly
(Drosophila melanogaster) |
Insecta |
rt1 , 3 |
dolichyl-phosphate-mannose-protein
mannosyltransferase3
rotated abdomen1 |
38(a)3
52.76(n)1
44.24(a)1 |
|
3 68C133
392971 NM_079301.31 NP_524025.21 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
PMT41 |
Pmt4p |
42.68(n)
33.43(a) |
|
853608 NP_012677.1 |
ENSEMBL Gene Tree for POMT1 (if available)
TreeFam Gene Tree for POMT1 (if available) |
Paralogs
for POMT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for POMT1 gene
- POMT22
2 SIMAP similar genes for POMT1 using alignment to 10 protein entries: POMT1_HUMAN (see all proteins):POMT2 DKFZp686G10254
POMT1 for paralogs About GeneDecksing
|
Genomic Variants
for POMT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for POMT1 (134378289 - 134399193 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for POMT1
5 CNVs: 8633 1833 2839 3783 9626
3 Indels: 83201 65535 96322
Human Gene Mutation Database (HGMD): POMT1
Locus Specific Mutation Databases (LSDB): POMT1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing POMT1 |
|
Disorders
/ Diseases
for POMT1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
POMT1 for disorders About GeneDecksing
OMIM gene information: 607423
OMIM disorders: 236670 613155 609308
UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1
Defects in POMT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with mental retardationtype B1 (MDDGB1) [MIM:613155]; also called muscular dystrophy congenital POMT1-related. MDDGB1 is an autosomalrecessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mildstructural brain abnormalities Defects in POMT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eyeanomalies type A1 (MDDGA1) [MIM:236670]; also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. MDDGA1is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinaldisplasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethalwithin the first few months of life. Included diseases are the more severe Walker-Warburg syndrome and the slightlyless severe muscle-eye-brain disease Defects in POMT1 are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C1 (MDDGC1)[MIM:609308]; also called autosomal recessive limb-girdle muscular dystrophy with mental retardation. MDDGC1 is anovel form of recessive limb girdle muscular dystrophy with mild mental retardation without any obvious structuralbrain abnormality, associated with an abnormal alpha-dystroglycan pattern in the muscle. MDDGC1 is a significantlymilder allelic form of WWS
20/22  diseases for POMT1 (see all 22): About MalaCardswalker-warburg syndrome limb-girdle muscular dystrophy muscular dystrophy muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
muscular dystrophy-dystroglycanopathy muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 limb-girdle muscular dystrophy type 2k muscle-eye-brain disease
fukuyama congenital muscular dystrophy congenital muscular dystrophy cleft lip +/- cleft palate cleft lip
encephalocele encephaloceles cleft palate neuronal migration disorders
intellectual disability brain disease microcephaly lissencephaly
4 diseases from the University of Copenhagen DISEASES database for POMT1:Neuropathy Myopathy Lissencephaly Intellectual disability 10 Novoseek disease relationships for POMT1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| walker-warburg syndrome |
98.3 |
21 |
16575835 (2), 15792865 (2), 12966029 (1), 15271988 (1) (see all 18) |
| muscle-eye-brain disease |
92.9 |
3 |
12966029 (1), 15605948 (1), 18939472 (1) |
| eye abnormalities |
92.8 |
4 |
12966029 (1), 15271988 (1), 16575835 (1), 15792865 (1) |
| muscular dystrophies |
92.6 |
12 |
15792865 (2), 15271988 (1), 15605948 (1), 18513969 (1) (see all 11) |
| mdc1c |
90.6 |
1 |
12966029 (1) |
| fukuyama congenital muscular dystrophy |
88.8 |
2 |
15605948 (1), 18646561 (1) |
| muscular dystrophy limb-girdle |
80.4 |
3 |
15605948 (1), 18385336 (1) |
| mental retardation |
57.3 |
5 |
18513969 (2), 16575835 (2), 17878207 (1) |
| microcephaly |
50.4 |
3 |
16575835 (2), 18513969 (1) |
| hypertrophy |
3.86 |
1 |
16575835 (1) |
Human Genome Epidemiology (HuGE) Navigator: POMT1 (5 documents)
Export disorders for POMT1 gene to outside databases
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Publications
for POMT1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for POMT1 gene, integrated from 9 sources (see all 66):
(articles sorted by number of sources associating them with POMT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1. (PubMed id 10366449)1, 2, 3, 9 Perez Jurado L.A.... Cruces J. (1999)
- Mutations in POMT1 are found in a minority of patients with Walker- Warburg syndrome. (PubMed id 15637732)1, 2, 9 Currier S.C....Walsh C.A. (2005)
- An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. (PubMed id 15792865)1, 2, 9 Balci B.... Topaloglu H. (2005)
- POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. (PubMed id 15037715)1, 2, 9 Kim D.-S.... Nishino I. (2004)
- Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. (PubMed id 12369018)1, 2, 9 Beltran-Valero de Bernabe D.... Brunner H.G. (2002)
- Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 9 Mercuri E....Bertini E. (2009)
- Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. (PubMed id 14699049)1, 2 Manya H.... Endo T. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
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External Searches for POMT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing POMT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing POMT1 gene
(According to HUGE)
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Specialized Databases showing POMT1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for POMT1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POMT1 | | GGDB | http://riodb.ibase.aist.go.jp/rcmg/ggdb/ |
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| Patent Information for POMT1 gene:
Search GeneIP for patents involving POMT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for POMT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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