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GNPTAB

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protein-coding gene in the species Homo sapiens

Välised allikad

RefSeq RNA ID
XM_011538731[1]
NM_024312[1]
XM_006719593[1]
Ensembl transcript ID
ENST00000552681[2]
ENST00000299314[2]
ENST00000392919[2]
ENST00000549165[2]
ENST00000549194[2]
ENST00000549738[2]
ENST00000549940[2]
ENST00000550352[2]
ENST00000550718[2]
ENST00000552009[2]
ENST00000647144[2]
Google Knowledge Graph ID
/g/11gbldwyhv
Entrez Gene ID
79158[1]
UMLS CUI
C1825380[3]
OMIM ID
607840[4]
Ensembl gene ID
ENSG00000111670[2]
HGNC ID
29670[1]
HGNC gene symbol
GNPTAB[1]

üksikjuht nähtusest

geen[2]

mille alamklass

protein-coding gene[5]

found in taxon

Homo sapiens[2]

encodes

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta[6]
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta[7]

genetic association

inclusion-cell disease[8][9]
pseudo-Hurler polydystrophy[8]
mucolipidosis type III[10]

chromosome

human chromosome 12[2]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[2]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

102139275[2]

chromosome: human chromosome 12

genomic assembly: Genome assembly GRCh37

101745499[2]

chromosome: human chromosome 12

genomic assembly: genome assembly GRCh38

genomic end

102224716[2]

chromosome: human chromosome 12

genomic assembly: Genome assembly GRCh37

101830959[2]

chromosome: human chromosome 12

genomic assembly: genome assembly GRCh38

cytogenetic location

12q23.2[1]

HomoloGene ID

32576[1]

ortholog

Gnptab[11][12]

found in taxon: koduhiir

Gnptab[11][12]

found in taxon: rändrott

gnptab[11][12]

found in taxon: Danio rerio

expressed in

sääreluu[13]

järjekorranumber: 1

endothelial cell[13]

järjekorranumber: 2

sural nerve[13]

järjekorranumber: 3

Parotiidnääre[13]

järjekorranumber: 4

urethra[13]

järjekorranumber: 5

skin of hip[13]

järjekorranumber: 6

epithelium of nasopharynx[13]

järjekorranumber: 7

skin of thigh[13]

järjekorranumber: 8

minor salivary glands[13]

järjekorranumber: 9

rectum[13]

järjekorranumber: 10

täpne vaste

http://identifiers.org/ncbigene/79158[14]

Viited

  1. ↑ 1,0 1,1 1,2 1,3 1,4 1,5 1,6 1,7 NCBI Gene, 15. mai 2022, 79158
  2. ↑ 2,00 2,01 2,02 2,03 2,04 2,05 2,06 2,07 2,08 2,09 2,10 2,11 2,12 2,13 2,14 2,15 2,16 2,17 2,18 2,19 ensembl Release 106, ENSG00000111670
  3. ↑ UMLS 2023, 15. juuni 2023, inferred by common HGNC mappings on source and on Wikidata
  4. ↑ Online Mendelian Inheritance in Man, 19. august 2019
  5. ↑ Ensembl Release 87, ENSG00000111670
  6. ↑ UniProt, 6. juuli 2017, Q3T906
  7. ↑ H0YIU2, 20. märts 2016, UniProt, inglise keel
  8. ↑ 8,0 8,1 Q3T906, 13. august 2019, UniProt
  9. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000111670/MONDO_0009650, inferred from an Open Targets association score over 0.7
  10. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000111670/MONDO_0018931, inferred from an Open Targets association score over 0.7
  11. ↑ 11,0 11,1 11,2 HomoloGene build68, 32576
  12. ↑ 12,0 12,1 12,2 Orthologous MAtrix, https://omabrowser.org/oma/vps/Q3T906/
  13. ↑ 13,00 13,01 13,02 13,03 13,04 13,05 13,06 13,07 13,08 13,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000111670
  14. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Pärit leheküljelt "https://et.wikipedia.org/wiki/Eri:AboutTopic/Q18046034"