ENSG00000122643
Homo sapiens | |
Features
| Gene ID: | ENSG00000122643 | | | | | Biological name : | NT5C3A | | | | | Synonyms : | 5-nucleotidase, cytosolic IIIA / NT5C3A / Q9H0P0 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 7 | | Strand: | -1 | | Band: | p14.3 | | Gene start: | 33014113 | | Gene end: | 33062797 | | | | | Corresponding Affymetrix probe sets: | 223298_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000387205
Ensembl peptide - ENSP00000496364
Ensembl peptide - ENSP00000484415
Ensembl peptide - ENSP00000476480
Ensembl peptide - ENSP00000401161
Ensembl peptide - ENSP00000389676
Ensembl peptide - ENSP00000242210
Ensembl peptide - ENSP00000371039
Ensembl peptide - ENSP00000379456
Ensembl peptide - ENSP00000385261
Ensembl peptide - ENSP00000387166
NCBI entrez gene - 51251
See in Manteia.
OMIM - 606224
RefSeq - XM_011515409
RefSeq - NM_001002009
RefSeq - NM_001002010
RefSeq - NM_001166118
RefSeq - NM_001356996
RefSeq - NM_016489
RefSeq Peptide - NP_001343925
RefSeq Peptide - NP_001002009
RefSeq Peptide - NP_001002010
RefSeq Peptide - NP_001159590
RefSeq Peptide - NP_057573
swissprot - B9A035
swissprot - F8WDR0
swissprot - A0A090N7U2
swissprot - Q9H0P0
swissprot - X6RM59
swissprot - C9K084
swissprot - A0A024RA81
Ensembl - ENSG00000122643
| | | | | Related genetic diseases (OMIM): | 266120 - Anemia, hemolytic, due to UMPH1 deficiency, 266120 |
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)
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| 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:0001878 | Hemolytic anemia | |
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| | HP:0003641 | Hemoglobinuria | |
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Interacting proteins (from Reactome)
No match
0 s.
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