SLC14A1

SLC14A1
Identifiers
Aliases	SLC14A1, HUT11, HsT1341, JK, RACH1, RACH2, UT-B1, UT1, UTE, solute carrier family 14 member 1 (Kidd blood group), Jk(b), HUT11A, Jk(a)
External IDs	OMIM: 613868; MGI: 1351654; HomoloGene: 9285; GeneCards: SLC14A1; OMA:SLC14A1 - orthologs
Gene location (Human)
Chr.	Chromosome 18 (human)
End	45,752,520 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	78,185,334 bp
RNA expression pattern
	Top expressed in
	tibia; ; mucosa of urinary bladder; ; trabecular bone; ; right coronary artery; ; internal globus pallidus; ; ascending aorta; ; dorsal motor nucleus of vagus nerve; ; optic nerve; ; substantia nigra; ; prostate;
	Top expressed in
	bone marrow; ; urinary bladder; ; male urethra; ; ovary; ; spleen; ; inner renal medulla; ; epithelium of male urethra; ; female urethra; ; renal vein; ; Transitional epithelium of renal pelvis;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	water transmembrane transporter activity; urea channel activity; urea transmembrane transporter activity; protein binding;
Cellular component	integral component of membrane; plasma membrane; basolateral plasma membrane; integral component of plasma membrane; nucleolus; intracellular membrane-bounded organelle; membrane;
Biological process	water transport; urea transport; urea transmembrane transport; transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	6563
	108052
	ENSG00000141469
	ENSMUSG00000059336
	Q13336
	Q8VHL0
NM_001128588; NM_001146036; NM_001146037; NM_001308278; NM_001308279;
	NM_015865
	NM_001171010; NM_001171011; NM_028122
NP_001122060; NP_001139508; NP_001139509; NP_001295207; NP_001295208;
	NP_056949
	NP_001164481; NP_001164482; NP_082398
	Wikidata
View/Edit Human	View/Edit Mouse

Urea transporter 1 is a protein that in humans is encoded by the SLC14A1 gene.^[5]^[6]

Function

The SLC14A1 codes for a urea transporter (UTB) that is expressed in erythrocytes and kidney. SLC14A2 and SLC14A1 constitute solute carrier family 14. UTB proteins constitute the Kidd antigen system.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000141469 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000059336 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Olives B, Mattei MG, Huet M, Neau P, Martial S, Cartron JP, Bailly P (Aug 1995). "Kidd blood group and urea transport function of human erythrocytes are carried by the same protein". J Biol Chem. 270 (26): 15607–10. doi:10.1074/jbc.270.26.15607. PMID 7797558.
^ "Entrez Gene: SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)".

Geitvik GA, Høyheim B, Gedde-Dahl T, et al. (1987). "The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNA-RFLP". Hum. Genet. 77 (3): 205–9. doi:10.1007/BF00284470. PMID 2890568. S2CID 23739401.
Olives B, Neau P, Bailly P, et al. (1995). "Cloning and functional expression of a urea transporter from human bone marrow cells". J. Biol. Chem. 269 (50): 31649–52. doi:10.1016/S0021-9258(18)31744-7. PMID 7989337.
Davey S, Beach D (1996). "RACH2, a novel human gene that complements a fission yeast cell cycle checkpoint mutation". Mol. Biol. Cell. 6 (10): 1411–21. doi:10.1091/mbc.6.10.1411. PMC 301296. PMID 8573795.
Olivès B, Martial S, Mattei MG, et al. (1996). "Molecular characterization of a new urea transporter in the human kidney" (PDF). FEBS Lett. 386 (2–3): 156–60. doi:10.1016/0014-5793(96)00425-5. PMID 8647271. S2CID 13312002.
Olivès B, Merriman M, Bailly P, et al. (1997). "The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility". Hum. Mol. Genet. 6 (7): 1017–20. doi:10.1093/hmg/6.7.1017. PMID 9215669.
Lucien N, Sidoux-Walter F, Olivès B, et al. (1998). "Characterization of the gene encoding the human Kidd blood group/urea transporter protein. Evidence for splice site mutations in Jknull individuals". J. Biol. Chem. 273 (21): 12973–80. doi:10.1074/jbc.273.21.12973. PMID 9582331.
Irshaid NM, Thuresson B, Olsson ML (1998). "Genomic typing of the Kidd blood group locus by a single-tube allele-specific primer PCR technique". Br. J. Haematol. 102 (4): 1010–4. doi:10.1046/j.1365-2141.1998.00874.x. PMID 9734652. S2CID 19082798.
Sidoux-Walter F, Lucien N, Olivès B, et al. (1999). "At physiological expression levels the Kidd blood group/urea transporter protein is not a water channel". J. Biol. Chem. 274 (42): 30228–35. doi:10.1074/jbc.274.42.30228. hdl:2066/185970. PMID 10514515.
Irshaid NM, Henry SM, Olsson ML (2000). "Genomic characterization of the kidd blood group gene:different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns". Transfusion. 40 (1): 69–74. doi:10.1046/j.1537-2995.2000.40010069.x. PMID 10644814. S2CID 43843439.
Sidoux-Walter F, Lucien N, Nissinen R, et al. (2000). "Molecular heterogeneity of the Jk(null) phenotype: expression analysis of the Jk(S291P) mutation found in Finns". Blood. 96 (4): 1566–73. doi:10.1182/blood.V96.4.1566. PMID 10942407.
Lucien N, Chiaroni J, Cartron JP, Bailly P (2002). "Partial deletion in the JK locus causing a Jk(null) phenotype". Blood. 99 (3): 1079–81. doi:10.1182/blood.V99.3.1079. PMID 11807016.
Irshaid NM, Eicher NI, Hustinx H, et al. (2002). "Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families". Br. J. Haematol. 116 (2): 445–53. doi:10.1046/j.1365-2141.2002.03238.x. PMID 11841450. S2CID 25830269.
Lucien N, Sidoux-Walter F, Roudier N, et al. (2002). "Antigenic and functional properties of the human red blood cell urea transporter hUT-B1". J. Biol. Chem. 277 (37): 34101–8. doi:10.1074/jbc.M205073200. PMID 12093813.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Inoue H, Jackson SD, Vikulina T, et al. (2004). "Identification and characterization of a Kidd antigen/UT-B urea transporter expressed in human colon". Am. J. Physiol., Cell Physiol. 287 (1): C30–5. doi:10.1152/ajpcell.00443.2003. PMID 14985236. S2CID 25576221.

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

Zdroj:https://en.wikipedia.org?pojem=SLC14A1
Text je dostupný za podmienok Creative Commons Attribution/Share-Alike License 3.0 Unported; prípadne za ďalších podmienok. Podrobnejšie informácie nájdete na stránke Podmienky použitia.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000141469 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000059336 – Ensembl, 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.

[pmid7797558-5] Olives B, Mattei MG, Huet M, Neau P, Martial S, Cartron JP, Bailly P (Aug 1995). "Kidd blood group and urea transport function of human erythrocytes are carried by the same protein". J Biol Chem. 270 (26): 15607–10. doi:10.1074/jbc.270.26.15607. PMID 7797558.

[entrez-6] "Entrez Gene: SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)".

[1]

[2]

[3]

[4]

[5]

[6]

Function

References

Further reading