Reviewed, UniProtKB/Swiss-Prot Q13336 (UT1_HUMAN)

Names and origin

Protein names

Recommended name:
    Urea transporter, erythrocyte

Gene names

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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	389 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Specialized low-affinity urea transporter. Mediates urea transport in erythrocytes.
Subcellular location	Membrane; Multi-pass membrane protein.
Tissue specificity	Erythrocytes.
Polymorphism	SLC14A1 is responsible for the Kidd blood group system. The molecular basis of the Jk(a)/Jk(b) blood group antigens is a single variation in position 280; Asp-280 corresponds to Jk(a) and Asn-280 to Jk(b).

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane
Molecular function	Blood group antigen
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	urea transport Ref.1 Traceable author statement. Source: ProtInc
Cellular component	integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc
Molecular function	ubiquitin-ubiquitin ligase activity Inferred from direct assay. Source: MGI urea transmembrane transporter activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 389	389	Urea transporter, erythrocyte		PRO_0000065737
Regions
	Transmembrane	53 – 73	21	Potential
	Transmembrane	78 – 98	21	Potential
	Transmembrane	116 – 136	21	Potential
	Transmembrane	143 – 163	21	Potential
	Transmembrane	173 – 193	21	Potential
	Transmembrane	243 – 263	21	Potential
	Transmembrane	281 – 301	21	Potential
	Transmembrane	310 – 330	21	Potential
	Transmembrane	333 – 353	21	Potential
Amino acid modifications
	Glycosylation	211	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	44	1	E → K		VAR_022319
	Natural variant	280	1	D → N in Jk(b). dbSNP rs1058396.		VAR_005669
	Natural variant	291	1	S → P in Jk(null).		VAR_013752
Experimental info
	Sequence conflict	167	1	M → V in AAH50539. Ref.6
	Sequence conflict	231	1	G → GVG Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q13336-1 [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

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: 7989337] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], 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: 8573795] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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: 9215669] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], 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: 10514515] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Blood.
[5]	SeattleSNPs program for genomic applications Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LYS-44 AND ASN-280.
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-280. Tissue: Colon.
[7]	"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: 10942407] [Abstract] Cited for: VARIANT JK(NULL) PRO-291.
[8]	"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: 10644814] [Abstract] Cited for: VARIANT JK(NULL) PRO-291.
+	Additional computationally mapped references.

Web resources

BGMUT

Blood group antigen gene mutation database"

GeneReviews

SeattleSNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	L36121 mRNA. No translation available. U35735 mRNA. Translation: AAB00181.1. Y19039 mRNA. Translation: CAB60834.1. AY942197 Genomic DNA. Translation: AAX20112.1. BC050539 mRNA. Translation: AAH50539.1.
PIR	A55662.
RefSeq	NP_056949.2.
UniGene	Hs.101307
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q13336.
Genome annotation databases
Ensembl	ENSG00000141469. Homo sapiens. [Contig view]
GeneID	6563.
NMPDR	fig|9606.3.peg.14984.
Organism-specific databases
H-InvDB	HIX0014423.
HGNC	HGNC:10918. SLC14A1.
MIM	111000. gene.
PharmGKB	PA35810.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q13336.
HOVERGEN	Q13336.
Gene expression databases
ArrayExpress	Q13336.
CleanEx	HS_SLC14A1.
GermOnline	ENSG00000141469. Homo sapiens.
Family and domain databases
InterPro	IPR004937. Urea_transporter. [Graphical view]
PANTHER	PTHR10464. Urea_transporter. 1 hit.
Pfam	PF03253. UT. 1 hit. [Graphical view]
PIRSF	PIRSF016502. Urea_transporter. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	25535.
SOURCE	Search...

Entry information

Entry name

UT1_HUMAN

Accession

Primary (citable) accession number: Q13336
Secondary accession number(s): Q86VM5

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	December 15, 1998
Last modified:	November 25, 2008
This is version 71 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)