|
|
|
|
|
|
|
|
|
|
|
|
|
|
| # | Reference Title | Reference Citation |
| 1. | Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. | Bello L, etal., Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2. |
| 2. | Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. | Beltran-Valero de Bernabe D, etal., Am J Hum Genet 2002 Nov;71(5):1033-43. |
| 3. | Molecular heterogeneity in fetal forms of type II lissencephaly. | Bouchet C, etal., Hum Mutat. 2007 Oct;28(10):1020-7. |
| 4. | Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. | Currier SC, etal., Am J Med Genet A. 2005 Feb 15;133A(1):53-7. |
| 5. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 6. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 7. | 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. | Jurado LA, etal., Genomics 1999 Jun 1;58(2):171-80. |
| 8. | Molecular cloning and characterization of rat Pomt1 and Pomt2. | Manya H, etal., Glycobiology. 2006 Sep;16(9):863-73. Epub 2006 May 16. |
| 9. | Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. | Manya H, etal., Proc Natl Acad Sci U S A 2004 Jan 13;101(2):500-5. Epub 2003 Dec 29. |
| 10. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 11. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 12. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 13. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 14. | GOA pipeline | RGD automated data pipeline |
| 15. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 16. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 17. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 18. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
| 19. | Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. | Vajsar J, etal., Neuromuscul Disord. 2008 Aug;18(8):675-7. doi: 10.1016/j.nmd.2008.05.014. Epub 2008 Jul 18. |
| 20. | The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. | van Reeuwijk J, etal., Hum Mutat. 2006 May;27(5):453-9. |
| Pomt1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POMT1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pomt1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pomt1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POMT1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POMT1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pomt1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POMT1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POMT1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pomt1 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pomt1 (Rattus rattus - black rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
.
Variants in Pomt1
67 total Variants
|
| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH130122 |
|
||||||||||||||||||||||||||||||||||||||||
| RH131674 |
|
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 162 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 141 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_053406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_008761776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039105979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063284710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005501994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF192388 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC070912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH474001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DY309994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000015214 ⟹ ENSRNOP00000015214 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000082794 ⟹ ENSRNOP00000073262 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000119777 ⟹ ENSRNOP00000079634 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | NM_053406 ⟹ NP_445858 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_039105979 ⟹ XP_038961907 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063284710 ⟹ XP_063140780 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XR_005501994 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
|
| Protein RefSeqs | NP_445858 | (Get FASTA) | NCBI Sequence Viewer |
| XP_038961907 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063140780 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAG53461 | (Get FASTA) | NCBI Sequence Viewer |
| AAH70912 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL93252 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL93253 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000015214 | ||
| ENSRNOP00000015214.3 | |||
| ENSRNOP00000073262 | |||
| GenBank Protein | Q99PR0 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_445858 ⟸ NM_053406 |
| - UniProtKB: | Q6IRI2 (UniProtKB/Swiss-Prot), Q99PR0 (UniProtKB/Swiss-Prot), A6JU44 (UniProtKB/TrEMBL), A0A0G2K523 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000073262 ⟸ ENSRNOT00000082794 |
| Ensembl Acc Id: | ENSRNOP00000015214 ⟸ ENSRNOT00000015214 |
| RefSeq Acc Id: | XP_038961907 ⟸ XM_039105979 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q99PR0 (UniProtKB/Swiss-Prot), Q6IRI2 (UniProtKB/Swiss-Prot), A6JU44 (UniProtKB/TrEMBL), A0A0G2K523 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000079634 ⟸ ENSRNOT00000119777 |
| RefSeq Acc Id: | XP_063140780 ⟸ XM_063284710 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A0G2K523 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q99PR0-F1-model_v2 | AlphaFold | Q99PR0 | 1-747 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13691988 | ||||||||
| Promoter ID: | EPDNEW_R2503 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Pomt1_1 | ||||||||
| Description: | protein-O-mannosyltransferase 1 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:620078 | AgrOrtholog |
| BioCyc Gene | G2FUF-50151 | BioCyc |
| BioCyc Pathway | PWY-7922 [protein O-mannosylation II (mammals, core M1 and core M2)] | BioCyc |
| PWY-7979 [protein O-mannosylation III (mammals, core M3)] | BioCyc | |
| BioCyc Pathway Image | PWY-7922 | BioCyc |
| PWY-7979 | BioCyc | |
| Ensembl Genes | ENSRNOG00000010477 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000015214 | ENTREZGENE |
| ENSRNOT00000015214.5 | UniProtKB/Swiss-Prot | |
| ENSRNOT00000082794 | ENTREZGENE | |
| Gene3D-CATH | 2.80.10.50 | UniProtKB/Swiss-Prot |
| IMAGE_CLONE | IMAGE:7104668 | IMAGE-MGC_LOAD |
| InterPro | GlyclTrfase_39-like | UniProtKB/Swiss-Prot |
| Glyco_trans_39/83 | UniProtKB/Swiss-Prot | |
| MIR_dom_sf | UniProtKB/Swiss-Prot | |
| MIR_motif | UniProtKB/Swiss-Prot | |
| PMT_4TMC | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:84430 | UniProtKB/Swiss-Prot |
| MGC_CLONE | MGC:91582 | IMAGE-MGC_LOAD |
| NCBI Gene | 84430 | ENTREZGENE |
| PANTHER | PROTEIN O-MANNOSYL-TRANSFERASE 1 | UniProtKB/Swiss-Prot |
| PTHR10050 | UniProtKB/Swiss-Prot | |
| Pfam | MIR | UniProtKB/Swiss-Prot |
| PMT | UniProtKB/Swiss-Prot | |
| PMT_4TMC | UniProtKB/Swiss-Prot | |
| PhenoGen | Pomt1 | PhenoGen |
| PROSITE | MIR | UniProtKB/Swiss-Prot |
| RatGTEx | ENSRNOG00000010477 | RatGTEx |
| SMART | MIR | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF82109 | UniProtKB/Swiss-Prot |
| UniProt | A0A0G2K523 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A8I5ZN20_RAT | UniProtKB/TrEMBL | |
| A6JU44 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6JU45_RAT | UniProtKB/TrEMBL | |
| POMT1_RAT | UniProtKB/Swiss-Prot | |
| Q6IRI2 | ENTREZGENE | |
| Q99PR0 | ENTREZGENE | |
| UniProt Secondary | Q6IRI2 | UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2004-09-10 | Pomt1 | protein-O-mannosyltransferase 1 | protein O-mannosyltransferase 1 | Name updated | 1299863 | APPROVED | |
| 2002-08-07 | Pomt1 | protein O-mannosyltransferase 1 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |