ENSG00000151224
Homo sapiens | |
Features
| Gene ID: | ENSG00000151224 | | | | | Biological name : | MAT1A | | | | | Synonyms : | MAT1A / methionine adenosyltransferase 1A / Q00266 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 10 | | Strand: | -1 | | Band: | q22.3 | | Gene start: | 80271820 | | Gene end: | 80289684 | | | | | Corresponding Affymetrix probe sets: | 205813_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000414961
Ensembl peptide - ENSP00000361287
NCBI entrez gene - 4143
See in Manteia.
OMIM - 610550
RefSeq - XM_005269843
RefSeq - NM_000429
RefSeq - XM_005269842
RefSeq Peptide - NP_000420
swissprot - Q00266
swissprot - B1ANE6
Ensembl - ENSG00000151224
| | | | | Related genetic diseases (OMIM): | 250850 - Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR002133 | S-adenosylmethionine synthetase | | IPR022628 | S-adenosylmethionine synthetase, N-terminal | | IPR022629 | S-adenosylmethionine synthetase, central domain | | IPR022630 | S-adenosylmethionine synthetase, C-terminal | | IPR022631 | S-adenosylmethionine synthetase, conserved site | | IPR022636 | S-adenosylmethionine synthetase superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001249 | Mental retardation | |
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| | HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| | HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| | HP:0003235 | Hypermethioninemia | |
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| | HP:0007305 | Cns demyelination | |
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| | HP:0011096 | Peripheral demyelination | "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] |
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Interacting proteins (from Reactome)
| ENSG00000151224 | MAT1A / Q00266 / methionine adenosyltransferase 1A | / complex |
0 s.
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