Movatterモバイル変換


[0]ホーム

URL:


Jump to content
WikipediaThe Free Encyclopedia
Search

Sialin

From Wikipedia, the free encyclopedia
(Redirected fromSLC17A5)
Protein-coding gene in the species Homo sapiens
SLC17A5
Identifiers
AliasesSLC17A5, AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, solute carrier family 17 member 5
External IDsOMIM:604322;MGI:1924105;HomoloGene:56571;GeneCards:SLC17A5;OMA:SLC17A5 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for SLC17A5
Genomic location for SLC17A5
Band6q13Start73,593,379bp[1]
End73,653,992bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for SLC17A5
Genomic location for SLC17A5
Band9|9 E1Start78,443,770bp[2]
End78,495,323bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • corpus epididymis

  • stromal cell of endometrium

  • mucosa of sigmoid colon

  • germinal epithelium

  • mucosa of ileum

  • jejunal mucosa

  • visceral pleura

  • right lobe of thyroid gland

  • synovial joint

  • islet of Langerhans
Top expressed in
  • epithelium of small intestine

  • lacrimal gland

  • parotid gland

  • submandibular gland

  • proximal tubule

  • right kidney

  • renal corpuscle

  • ileum

  • human kidney

  • hand
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

26503

235504

Ensembl

ENSG00000119899

ENSMUSG00000049624

UniProt

Q9NRA2

Q8BN82

RefSeq (mRNA)

NM_012434

NM_001276452
NM_172773

RefSeq (protein)
NP_036566
NP_001369558
NP_001369559
NP_001369560
NP_001369561

NP_001369562
NP_001369563
NP_001369564
NP_001369565

NP_001263381
NP_766361

Location (UCSC)Chr 6: 73.59 – 73.65 MbChr 9: 78.44 – 78.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sialin, also known asH(+)/nitrate cotransporter andH(+)/sialic acid cotransporter, is aprotein which in humans is encoded by theSLC17A5gene.[5][6][7]

Clinical significance

[edit]

A deficiency of this protein causesSalla disease.[7][8] andInfantile Sialic Acid Storage Disease (ISSD).

The gene forHP59 contains, entirely within its coding region, the Sialin Gene SLC17A5. Member 5, also known as SLC17A5 or sialin is alysosomal membranesialic acid transport protein which in humans is encoded by the SLC17A5 gene onChromosome 6[9][10][11]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000119899Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000049624Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^"Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5".
  6. ^Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P (June 1994)."The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6".Am. J. Hum. Genet.54 (6):1042–9.PMC 1918202.PMID 8198127.
  7. ^abVerheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM (December 1999). "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases".Nat. Genet.23 (4):462–5.doi:10.1038/70585.PMID 10581036.S2CID 5709302.
  8. ^Mitchell, Richard Sheppard; Kumar, Vinay; Robbins, Stanley L.; Abbas, Abul K.; Fausto, Nelson (2007). "Table 7-6".Robbins basic pathology (8th ed.). Saunders/Elsevier.ISBN 978-1-4160-2973-1.
  9. ^"Homo sapiens chromosome 6 genomic contig, GRCh37.p13 Primary Assembly". 13 August 2013.
  10. ^[1]"Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5"
  11. ^Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P (1994)."The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6".American Journal of Human Genetics.54 (6):1042–9.PMC 1918202.PMID 8198127.

Further reading

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
(7):
(8):
(9):
(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
(24):
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
SLC41–48
(41):
(42):
(43):
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


Stub icon

Thismembrane protein–related article is astub. You can help Wikipedia byadding missing information.

Retrieved from "https://en.wikipedia.org/w/index.php?title=Sialin&oldid=1301027705"
Categories:
Hidden categories:

[8]ページ先頭

©2009-2026 Movatter.jp