Mine sisu juurde

ELP1

Lehekülje sisu ei toetata teistes keeltes.

protein-coding gene in the species Homo sapiens

üksikjuht nähtusest

mille alamklass

protein-coding gene[6]

found in taxon

Homo sapiens[3]

encodes

Elongator complex protein 1[7]

genetic association

Riley-Day syndrome[8][9]

chromosome

human chromosome 9[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

111629797[3]

chromosome: human chromosome 9

genomic assembly: Genome assembly GRCh37

108866898[3]

chromosome: human chromosome 9

genomic assembly: genome assembly GRCh38

genomic end

111696396[3]

chromosome: human chromosome 9

genomic assembly: Genome assembly GRCh37

108934328[3]

chromosome: human chromosome 9

genomic assembly: genome assembly GRCh38

cytogenetic location

9q31.3[1]

HomoloGene ID

2699[1]

ortholog

Elp1[10][11]

found in taxon: koduhiir

Elp1[10][11]

found in taxon: rändrott

IKI3[10]

found in taxon: Saccharomyces cerevisiae S288c

elp1[10]

found in taxon: Danio rerio

elpc-1[11]

found in taxon: varbuss

expressed in

right adrenal cortex[12]

järjekorranumber: 1

left adrenal cortex[12]

järjekorranumber: 2

right hemisphere of cerebellum[12]

järjekorranumber: 3

ajuripats[12]

järjekorranumber: 4

Näärmehüpofüüs[12]

järjekorranumber: 5

left ovary[12]

järjekorranumber: 6

right ovary[12]

järjekorranumber: 7

Võrkkesta pigmentepiteel[12]

järjekorranumber: 8

bronchial epithelial cell[12]

järjekorranumber: 9

Sugunääre[12]

järjekorranumber: 10

Viited

  1. 1,0 1,1 1,2 1,3 1,4 1,5 1,6 1,7 NCBI Gene, 15. mai 2022, 8518
  2. NCBI Gene, 10. aprill 2022, 8518
  3. 3,00 3,01 3,02 3,03 3,04 3,05 3,06 3,07 3,08 3,09 3,10 3,11 3,12 3,13 3,14 3,15 3,16 3,17 3,18 3,19 3,20 3,21 3,22 3,23 3,24 3,25 3,26 3,27 3,28 3,29 3,30 3,31 3,32 3,33 3,34 3,35 3,36 3,37 3,38 3,39 3,40 3,41 3,42 3,43 3,44 3,45 3,46 3,47 3,48 3,49 3,50 3,51 3,52 3,53 3,54 3,55 3,56 ensembl Release 106, ENSG00000070061
  4. UMLS 2023, 15. juuni 2023, inferred by common HGNC mappings on source and on Wikidata
  5. Online Mendelian Inheritance in Man, 19. august 2019
  6. Ensembl Release 87, ENSG00000070061
  7. UniProt, 6. juuli 2017, O95163
  8. O95163, 13. august 2019, UniProt
  9. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000070061/Orphanet_1764, inferred from an Open Targets association score over 0.7
  10. 10,0 10,1 10,2 10,3 10,4 HomoloGene build68, 2699
  11. 11,0 11,1 11,2 11,3 Orthologous MAtrix, https://omabrowser.org/oma/vps/O95163/
  12. 12,00 12,01 12,02 12,03 12,04 12,05 12,06 12,07 12,08 12,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000070061
  13. Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069