Q13336 (UT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Urea transporter 1

Alternative name(s):
Solute carrier family 14 member 1
Urea transporter, erythrocyte

Gene names

Name:	SLC14A1
Synonyms:	HUT11, JK, RACH1, UT1, UTE

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	389 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Mediates urea transport in erythrocytes By similarity. Low-affinity facilitative urea transporter that allow rapid equilibration between the urinary space and the hyperosmotic interstitium. the rate of urea conduction is increased by hypoosmotic stress.
Subunit structure	Homotrimer By similarity.
Subcellular location	Cell membrane; Multi-pass membrane protein By similarity. Basolateral cell membrane By similarity.
Tissue specificity	Erythrocytes.
Polymorphism	SLC14A1 is responsible for the Kidd blood group system (JK) [MIM:111000]. JK is defined by 2 alleles, JK*01 and JK*02 that give rise to Jk(a) and Jk(b) antigens respectively. The molecular basis of the Jk(a)/Jk(b) antigens is a single variation in position 280; Asp-280 corresponds to Jk(a) and Asn-280 to Jk(b). Some individuals carry silenced JK*01 and JK*02 alleles, designated JK*01N or JK*02N. They results in a Jk(null) phenotype associated with reduced urea permeability of red blood cells. Jk(null) is not associated with any obvious clinical syndrome except for a urine concentration defect.

Ontologies

Keywords
Biological process	Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Blood group antigen
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc
Molecular_function	urea transmembrane transporter activity Traceable author statement PubMed 7797558. Source: ProtInc water transmembrane transporter activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q13336-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q13336-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MNGRSLIGGAGDARHGPVWKDPFGTKAGDAARRGIARLSLALADGSQEQEPEEEIAM

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 389	389	Urea transporter 1		PRO_0000065737
Regions
	Transmembrane	53 – 73	21	Helical; Potential
	Transmembrane	78 – 98	21	Helical; Potential
	Transmembrane	116 – 136	21	Helical; Potential
	Transmembrane	143 – 163	21	Helical; Potential
	Transmembrane	173 – 193	21	Helical; Potential
	Transmembrane	243 – 263	21	Helical; Potential
	Transmembrane	281 – 301	21	Helical; Potential
	Transmembrane	310 – 330	21	Helical; Potential
	Transmembrane	333 – 353	21	Helical; Potential
Amino acid modifications
	Glycosylation	211	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1	1	M → MNGRSLIGGAGDARHGPVWK DPFGTKAGDAARRGIARLSL ALADGSQEQEPEEEIAM in isoform 2.		VSP_041573
	Natural variant	44	1	E → K. Ref.1 Ref.5 Ref.6 Corresponds to variant rs2298720 [ dbSNP | Ensembl ].		VAR_022319
	Natural variant	74	1	N → K in Jk(null). Ref.12		VAR_065466
	Natural variant	167	1	M → V in Jk(null). Ref.7 Ref.12 Corresponds to variant rs2298719 [ dbSNP | Ensembl ].		VAR_051483
	Natural variant	171	1	W → R. Corresponds to variant rs9948825 [ dbSNP | Ensembl ].		VAR_051484
	Natural variant	280	1	D → N in Jk(b). Ref.3 Ref.6 Ref.7 Ref.8 Corresponds to variant rs1058396 [ dbSNP | Ensembl ].		VAR_005669
	Natural variant	291	1	S → P in Jk(null). Ref.10 Ref.11		VAR_013752
	Natural variant	299	1	G → E in Jk(null). Ref.12		VAR_065467
	Natural variant	319	1	T → M in Jk(null). Ref.9		VAR_065468
Experimental info
	Sequence conflict	49	1	L → M in BAF82297. Ref.5
	Sequence conflict	64	1	R → Q in ACV91713. Ref.8
	Sequence conflict	231	1	G → GVG Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 15, 1998. Version 2. Checksum: 08625B8B66C310F2	FASTA	389	42,528
	10 20 30 40 50 60 MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKELANQLK DKPVVLQFID 70 80 90 100 110 120 WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG 130 140 150 160 170 180 LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF 190 200 210 220 230 240 NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW 250 260 270 280 290 300 TGGIFLGAIL LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM 310 320 330 340 350 360 FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL IMTTKNSNIY 370 380 KMPLSKVTYP EENRIFYLQA KKRMVESPL
	Isoform 2 [UniParc]. Checksum: CDCB118E22A2D01E	FASTA	445	48,342
	10 20 30 40 50 60 MNGRSLIGGA GDARHGPVWK DPFGTKAGDA ARRGIARLSL ALADGSQEQE PEEEIAMEDS 70 80 90 100 110 120 PTMVRVDSPT MVRGENQVSP CQGRRCFPKA LGYVTGDMKE LANQLKDKPV VLQFIDWILR 130 140 150 160 170 180 GISQVVFVNN PVSGILILVG LLVQNPWWAL TGWLGTVVST LMALLLSQDR SLIASGLYGY 190 200 210 220 230 240 NATLVGVLMA VFSDKGDYFW WLLLPVCAMS MTCPIFSSAL NSMLSKWDLP VFTLPFNMAL 250 260 270 280 290 300 SMYLSATGHY NPFFPAKLVI PITTAPNISW SDLSALELLK SIPVGVGQIY GCDNPWTGGI 310 320 330 340 350 360 FLGAILLSSP LMCLHAAIGS LLGIAAGLSL SAPFEDIYFG LWGFNSSLAC IAMGGMFMAL 370 380 390 400 410 420 TWQTHLLALG CALFTAYLGV GMANFMAEVG LPACTWPFCL ATLLFLIMTT KNSNIYKMPL 430 440 SKVTYPEENR IFYLQAKKRM VESPL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and functional expression of a urea transporter from human bone marrow cells." Olives B., Neau P., Bailly P., Hediger M.A., Rousselet G., Cartron J.-P., Ripoche P. J. Biol. Chem. 269:31649-31652(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT LYS-44. Tissue: Bone marrow.
[2]	"RACH2, a novel human gene that complements a fission yeast cell cycle checkpoint mutation." Davey S., Beach D. Mol. Biol. Cell 6:1411-1421(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility." Olives B., Merriman M., Bailly P., Bain S., Barnett A., Todd T., Cartron J.-P., Merriman T. Hum. Mol. Genet. 6:1017-1020(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), POLYMORPHISM, VARIANT JK(B) ASN-280.
[4]	"At physiological expression levels, the Kidd blood group/urea transporter protein is not a water channel." Sidoux-Walter F., Lucien N., Olives B., Gobin R., Rousselet G., Kamsteeg E.J., Ripoche P., Deen P.M.T., Cartron J.-P., Bailly P. J. Biol. Chem. 274:30228-30235(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Blood.
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-44. Tissue: Artery smooth muscle, Brain cortex and Caudate nucleus.
[6]	SeattleSNPs variation discovery resource Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LYS-44 AND ASN-280.
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS VAL-167 AND ASN-280. Tissue: Colon.
[8]	"Missense mutations that result in serological JKnull phenotypes." Posadas J.B., Shnyreva M., Gaur P., Nakaya S., Devanaboina M., Teramura G., Haile A., Gaur L.K. Submitted (AUG-2009) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-381, VARIANT ASN-280.
[9]	"Erythroid urea transporter deficiency due to novel JKnull alleles." Wester E.S., Johnson S.T., Copeland T., Malde R., Lee E., Storry J.R., Olsson M.L. Transfusion 48:365-372(2008) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 52-113; 222-257 AND 317-332, VARIANT JK(NULL) MET-319.
[10]	"Molecular heterogeneity of the Jk(null) phenotype: expression analysis of the Jk(S291P) mutation found in Finns." Sidoux-Walter F., Lucien N., Nissinen R., Sistonen P., Henry S., Moulds J., Cartron J.-P., Bailly P. Blood 96:1566-1573(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT JK(NULL) PRO-291.
[11]	"Genomic characterization of the Kidd blood group gene: different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns." Irshaid N.M., Henry S.M., Olsson M.L. Transfusion 40:69-74(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT JK(NULL) PRO-291.
[12]	"Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene." Liu H.M., Lin J.S., Chen P.S., Lyou J.Y., Chen Y.J., Tzeng C.H. Transfusion 49:259-264(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS JK(NULL) LYS-74; VAL-167 AND GLU-299.
+	Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GeneReviews

SeattleSNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	L36121 mRNA. No translation available. U35735 mRNA. Translation: AAB00181.1. Y19039 mRNA. Translation: CAB60834.1. AK091064 mRNA. Translation: BAG52274.1. AK123681 mRNA. Translation: BAG53935.1. AK289608 mRNA. Translation: BAF82297.1. AY942197 Genomic DNA. Translation: AAX20112.1. BC050539 mRNA. Translation: AAH50539.1. GQ502682 mRNA. Translation: ACV91713.1. EF571316 Genomic DNA. No translation available. EF571317 Genomic DNA. No translation available. EF571318 Genomic DNA. No translation available.
IPI	IPI00298337. IPI00646873.
PIR	A55662.
RefSeq	NP_001122060.3. NM_001128588.3. NP_001139508.2. NM_001146036.2. NP_001139509.1. NM_001146037.1. NP_056949.4. NM_015865.6.
UniGene	Hs.101307.
3D structure databases
ProteinModelPortal	Q13336.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000412309.
Polymorphism databases
DMDM	4033779.
Proteomic databases
PaxDb	Q13336.
PRIDE	Q13336.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321925; ENSP00000318546; ENSG00000141469. ENST00000415427; ENSP00000412309; ENSG00000141469. ENST00000436407; ENSP00000390637; ENSG00000141469. ENST00000586142; ENSP00000470476; ENSG00000141469.
GeneID	6563.
KEGG	hsa:6563.
UCSC	uc002lbf.4. human. uc002lbj.4. human.
Organism-specific databases
CTD	6563.
GeneCards	GC18P043304.
HGNC	HGNC:10918. SLC14A1.
MIM	111000. phenotype. 613868. gene.
neXtProt	NX_Q13336.
PharmGKB	PA35810.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG4413.
HOGENOM	HOG000065705.
HOVERGEN	HBG000540.
InParanoid	Q13336.
KO	K08716.
OMA	NRIFYLQ.
OrthoDB	EOG48D0VG.
PhylomeDB	Q13336.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules. REACT_20679. Amine compound SLC transporters.
Gene expression databases
ArrayExpress	Q13336.
Bgee	Q13336.
CleanEx	HS_SLC14A1.
Genevestigator	Q13336.
GermOnline	ENSG00000141469. Homo sapiens.
Family and domain databases
InterPro	IPR004937. Urea_transporter. [Graphical view]
PANTHER	PTHR10464. PTHR10464. 1 hit.
Pfam	PF03253. UT. 1 hit. [Graphical view]
PIRSF	PIRSF016502. Urea_transporter. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	6563.
NextBio	25535.
SOURCE	Search...

Entry information

Entry name

UT1_HUMAN

Accession

Primary (citable) accession number: Q13336
Secondary accession number(s): A8K0P3 , B3KR62, B3KVX3, C9EHF2, Q86VM5

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	December 15, 1998
Last modified:	May 1, 2013
This is version 117 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.