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Q13336

- UT1_HUMAN

UniProt

Q13336 - UT1_HUMAN

Protein

Urea transporter 1

Gene

SLC14A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (15 Dec 1998)
      Previous versions | rss
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    Functioni

    Urea channel that facilitates transmembrane urea transport down a concentration gradient. A constriction of the transmembrane channel functions as selectivity filter through which urea is expected to pass in dehydrated form. The rate of urea conduction is increased by hypotonic stress. Plays an important role in the kidney medulla collecting ducts, where it allows rapid equilibration between the lumen of the collecting ducts and the interstitium, and thereby prevents water loss driven by the high concentration of urea in the urine. Facilitates urea transport across erythrocyte membranes. May also play a role in transmembrane water transport, possibly by indirect means.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei339 – 3391Important for channel permeabilityBy similarity

    GO - Molecular functioni

    1. urea channel activity Source: UniProtKB
    2. urea transmembrane transporter activity Source: ProtInc
    3. water transmembrane transporter activity Source: Ensembl

    GO - Biological processi

    1. transmembrane transport Source: Reactome
    2. urea transmembrane transport Source: UniProtKB
    3. urea transport Source: ProtInc

    Keywords - Molecular functioni

    Blood group antigen

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_19305. Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.

    Protein family/group databases

    TCDBi1.A.28.1.5. the urea transporter (ut) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Urea transporter 1
    Alternative name(s):
    Solute carrier family 14 member 1
    Urea transporter, erythrocyte
    Gene namesi
    Name:SLC14A1
    Synonyms:HUT11, JK, RACH1, UT1, UTE
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:10918. SLC14A1.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Basolateral cell membrane By similarity; Multi-pass membrane protein By similarity
    Note: Restricted to the basolateral membrane in various portions of the urothelium.By similarity

    GO - Cellular componenti

    1. basolateral plasma membrane Source: UniProtKB-SubCell
    2. integral component of plasma membrane Source: UniProtKB
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi111000. phenotype.
    PharmGKBiPA35810.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 389389Urea transporter 1PRO_0000065737Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi211 – 2111N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ13336.
    PRIDEiQ13336.

    Expressioni

    Tissue specificityi

    Detected in erythrocytes (at protein level). Erythrocytes.1 Publication

    Gene expression databases

    ArrayExpressiQ13336.
    BgeeiQ13336.
    CleanExiHS_SLC14A1.
    GenevestigatoriQ13336.

    Organism-specific databases

    HPAiHPA059570.

    Interactioni

    Subunit structurei

    Homotrimer; each subunit contains a pore through which urea permeates. Identified in a complex with STOM By similarity.By similarity

    Protein-protein interaction databases

    DIPiDIP-60049N.
    STRINGi9606.ENSP00000412309.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13336.
    SMRiQ13336. Positions 36-381.
    ModBaseiSearch...
    MobiDBiSearch...

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei52 – 6918HelicalBy similarityAdd
    BLAST
    Intramembranei73 – 8816HelicalBy similarityAdd
    BLAST
    Intramembranei220 – 23415HelicalBy similarityAdd
    BLAST
    Intramembranei239 – 25012HelicalBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei91 – 11020HelicalBy similarityAdd
    BLAST
    Transmembranei115 – 13723HelicalBy similarityAdd
    BLAST
    Transmembranei144 – 16825HelicalBy similarityAdd
    BLAST
    Transmembranei173 – 19321HelicalBy similarityAdd
    BLAST
    Transmembranei255 – 27420HelicalBy similarityAdd
    BLAST
    Transmembranei284 – 30421HelicalBy similarityAdd
    BLAST
    Transmembranei309 – 33022HelicalBy similarityAdd
    BLAST
    Transmembranei333 – 35321HelicalBy similarityAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the urea transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG4413.
    HOGENOMiHOG000065705.
    HOVERGENiHBG000540.
    InParanoidiQ13336.
    KOiK08716.
    OMAiPNIYKMP.
    OrthoDBiEOG7GBFX8.
    PhylomeDBiQ13336.
    TreeFamiTF332858.

    Family and domain databases

    Gene3Di1.10.3430.10. 1 hit.
    InterProiIPR029020. Ammonium/urea_transptr.
    IPR004937. Urea_transporter.
    [Graphical view]
    PANTHERiPTHR10464. PTHR10464. 1 hit.
    PfamiPF03253. UT. 1 hit.
    [Graphical view]
    PIRSFiPIRSF016502. Urea_transporter. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13336-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKELANQLK    50
    DKPVVLQFID WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT 100
    VVSTLMALLL SQDRSLIASG LYGYNATLVG VLMAVFSDKG DYFWWLLLPV 150
    CAMSMTCPIF SSALNSMLSK WDLPVFTLPF NMALSMYLSA TGHYNPFFPA 200
    KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW TGGIFLGAIL 250
    LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM 300
    FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL 350
    IMTTKNSNIY KMPLSKVTYP EENRIFYLQA KKRMVESPL 389
    Length:389
    Mass (Da):42,528
    Last modified:December 15, 1998 - v2
    Checksum:i08625B8B66C310F2
    GO
    Isoform 2 (identifier: Q13336-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:445
    Mass (Da):48,342
    Checksum:iCDCB118E22A2D01E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti49 – 491L → M in BAF82297. (PubMed:14702039)Curated
    Sequence conflicti64 – 641R → Q in ACV91713. 1 PublicationCurated
    Sequence conflicti231 – 2311G → GVG(PubMed:7989337)Curated

    Polymorphismi

    SLC14A1 is responsible for the Kidd blood group system (JK) [MIMi: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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441E → K.3 Publications
    Corresponds to variant rs2298720 [ dbSNP | Ensembl ].
    VAR_022319
    Natural varianti74 – 741N → K in Jk(null). 1 Publication
    VAR_065466
    Natural varianti167 – 1671M → V in Jk(null). 2 Publications
    Corresponds to variant rs2298719 [ dbSNP | Ensembl ].
    VAR_051483
    Natural varianti171 – 1711W → R.
    Corresponds to variant rs9948825 [ dbSNP | Ensembl ].
    VAR_051484
    Natural varianti280 – 2801D → N in Jk(b). 4 Publications
    Corresponds to variant rs1058396 [ dbSNP | Ensembl ].
    VAR_005669
    Natural varianti291 – 2911S → P in Jk(null). 2 Publications
    Corresponds to variant rs78242949 [ dbSNP | Ensembl ].
    VAR_013752
    Natural varianti299 – 2991G → E in Jk(null). 1 Publication
    VAR_065467
    Natural varianti319 – 3191T → M in Jk(null). 1 Publication
    VAR_065468

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MNGRSLIGGAGDARHGPVWK DPFGTKAGDAARRGIARLSL ALADGSQEQEPEEEIAM in isoform 2. 1 PublicationVSP_041573

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS11925.1. [Q13336-1]
    CCDS45860.1. [Q13336-2]
    PIRiA55662.
    RefSeqiNP_001122060.3. NM_001128588.3. [Q13336-2]
    NP_001139508.2. NM_001146036.2. [Q13336-1]
    NP_001139509.1. NM_001146037.1. [Q13336-2]
    NP_056949.4. NM_015865.6. [Q13336-1]
    UniGeneiHs.101307.

    Genome annotation databases

    EnsembliENST00000321925; ENSP00000318546; ENSG00000141469. [Q13336-1]
    ENST00000415427; ENSP00000412309; ENSG00000141469. [Q13336-2]
    ENST00000436407; ENSP00000390637; ENSG00000141469. [Q13336-2]
    ENST00000586142; ENSP00000470476; ENSG00000141469. [Q13336-1]
    GeneIDi6563.
    KEGGihsa:6563.
    UCSCiuc002lbf.4. human. [Q13336-1]
    uc002lbj.4. human. [Q13336-2]

    Polymorphism databases

    DMDMi4033779.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    dbRBC/BGMUT

    Blood group antigen gene mutation database

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS11925.1. [Q13336-1 ]
    CCDS45860.1. [Q13336-2 ]
    PIRi A55662.
    RefSeqi NP_001122060.3. NM_001128588.3. [Q13336-2 ]
    NP_001139508.2. NM_001146036.2. [Q13336-1 ]
    NP_001139509.1. NM_001146037.1. [Q13336-2 ]
    NP_056949.4. NM_015865.6. [Q13336-1 ]
    UniGenei Hs.101307.

    3D structure databases

    ProteinModelPortali Q13336.
    SMRi Q13336. Positions 36-381.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-60049N.
    STRINGi 9606.ENSP00000412309.

    Chemistry

    ChEMBLi CHEMBL2390814.

    Protein family/group databases

    TCDBi 1.A.28.1.5. the urea transporter (ut) family.

    Polymorphism databases

    DMDMi 4033779.

    Proteomic databases

    PaxDbi Q13336.
    PRIDEi Q13336.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000321925 ; ENSP00000318546 ; ENSG00000141469 . [Q13336-1 ]
    ENST00000415427 ; ENSP00000412309 ; ENSG00000141469 . [Q13336-2 ]
    ENST00000436407 ; ENSP00000390637 ; ENSG00000141469 . [Q13336-2 ]
    ENST00000586142 ; ENSP00000470476 ; ENSG00000141469 . [Q13336-1 ]
    GeneIDi 6563.
    KEGGi hsa:6563.
    UCSCi uc002lbf.4. human. [Q13336-1 ]
    uc002lbj.4. human. [Q13336-2 ]

    Organism-specific databases

    CTDi 6563.
    GeneCardsi GC18P043304.
    HGNCi HGNC:10918. SLC14A1.
    HPAi HPA059570.
    MIMi 111000. phenotype.
    613868. gene.
    neXtProti NX_Q13336.
    PharmGKBi PA35810.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4413.
    HOGENOMi HOG000065705.
    HOVERGENi HBG000540.
    InParanoidi Q13336.
    KOi K08716.
    OMAi PNIYKMP.
    OrthoDBi EOG7GBFX8.
    PhylomeDBi Q13336.
    TreeFami TF332858.

    Enzyme and pathway databases

    Reactomei REACT_19305. Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.

    Miscellaneous databases

    GeneWikii SLC14A1.
    GenomeRNAii 6563.
    NextBioi 25535.
    PROi Q13336.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13336.
    Bgeei Q13336.
    CleanExi HS_SLC14A1.
    Genevestigatori Q13336.

    Family and domain databases

    Gene3Di 1.10.3430.10. 1 hit.
    InterProi IPR029020. Ammonium/urea_transptr.
    IPR004937. Urea_transporter.
    [Graphical view ]
    PANTHERi PTHR10464. PTHR10464. 1 hit.
    Pfami PF03253. UT. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF016502. Urea_transporter. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. "Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains."
      Rungaldier S., Oberwagner W., Salzer U., Csaszar E., Prohaska R.
      Biochim. Biophys. Acta 1828:956-966(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, IDENTIFICATION IN A COMPLEX WITH STOM, SUBUNIT.
    11. "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.
    12. "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.
    13. "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.

    Entry informationi

    Entry nameiUT1_HUMAN
    AccessioniPrimary (citable) accession number: Q13336
    Secondary accession number(s): A8K0P3
    , B3KR62, B3KVX3, C9EHF2, Q86VM5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: December 15, 1998
    Last modified: October 1, 2014
    This is version 131 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Blood group antigen proteins
      Nomenclature of blood group antigens and list of entries
    2. Human chromosome 18
      Human chromosome 18: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3