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Q9UEF7

- KLOT_HUMAN

UniProt

Q9UEF7 - KLOT_HUMAN

Protein

Klotho

Gene

KL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 2 (11 Oct 2005)
      Previous versions | rss
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    Functioni

    May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D By similarity. Essential factor for the specific interaction between FGF23 and FGFR1 By similarity.By similarity
    The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling.By similarity

    Catalytic activityi

    A beta-D-glucuronoside + H2O = D-glucuronate + an alcohol.

    GO - Molecular functioni

    1. beta-glucosidase activity Source: ProtInc
    2. beta-glucuronidase activity Source: UniProtKB-EC
    3. fibroblast growth factor binding Source: UniProtKB
    4. signal transducer activity Source: ProtInc
    5. vitamin D binding Source: UniProtKB-KW

    GO - Biological processi

    1. acute inflammatory response Source: Ensembl
    2. aging Source: UniProtKB
    3. calcium ion homeostasis Source: Ensembl
    4. carbohydrate metabolic process Source: InterPro
    5. energy reserve metabolic process Source: Ensembl
    6. epidermal growth factor receptor signaling pathway Source: Reactome
    7. Fc-epsilon receptor signaling pathway Source: Reactome
    8. fibroblast growth factor receptor signaling pathway Source: Reactome
    9. innate immune response Source: Reactome
    10. insulin receptor signaling pathway Source: Reactome
    11. neurotrophin TRK receptor signaling pathway Source: Reactome
    12. phosphatidylinositol-mediated signaling Source: Reactome
    13. positive regulation of bone mineralization Source: UniProtKB
    14. positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway Source: Ensembl

    Keywords - Molecular functioni

    Glycosidase, Hormone, Hydrolase

    Keywords - Ligandi

    Vitamin D

    Enzyme and pathway databases

    ReactomeiREACT_111184. Negative regulation of FGFR signaling.
    REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
    REACT_21247. FRS2-mediated cascade.
    REACT_21270. PI-3K cascade.
    REACT_21310. Phospholipase C-mediated cascade.
    REACT_21374. SHC-mediated cascade.
    REACT_75829. PIP3 activates AKT signaling.
    REACT_9484. FGFR1c and Klotho ligand binding and activation.
    REACT_976. PI3K Cascade.

    Protein family/group databases

    CAZyiGH1. Glycoside Hydrolase Family 1.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Klotho (EC:3.2.1.31)
    Cleaved into the following chain:
    Gene namesi
    Name:KL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:6344. KL.

    Subcellular locationi

    Isoform 1 : Cell membrane; Single-pass type I membrane protein
    Note: Isoform 1 shedding leads to a soluble peptide.

    GO - Cellular componenti

    1. extracellular region Source: Reactome
    2. extracellular space Source: InterPro
    3. extracellular vesicular exosome Source: UniProt
    4. integral component of membrane Source: UniProtKB
    5. integral component of plasma membrane Source: ProtInc
    6. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]: A severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti193 – 1931H → R in HFTC; impairs the ability to form a ternary complex with FGF23 and FGFR1c; impairs KL-dependent FGF23 signaling. 1 Publication
    VAR_064554

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi211900. phenotype.
    604824. gene+phenotype.
    Orphaneti306661. Hypercalcemic tumoral calcinosis.
    PharmGKBiPA30130.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3333Sequence AnalysisAdd
    BLAST
    Chaini34 – 1012979KlothoPRO_0000042243Add
    BLAST
    Chaini34 – ?Klotho peptideBy similarityPRO_0000042244

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi106 – 1061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi159 – 1591N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi283 – 2831N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi344 – 3441N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi607 – 6071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi612 – 6121N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi694 – 6941N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.By similarity

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9UEF7.
    PRIDEiQ9UEF7.

    PTM databases

    PhosphoSiteiQ9UEF7.

    Miscellaneous databases

    PMAP-CutDBQ9UEF7.

    Expressioni

    Tissue specificityi

    Present in cortical renal tubules (at protein level). Soluble peptide is present in serum and cerebrospinal fluid. Expressed in kidney, placenta, small intestine and prostate. Down-regulated in renal cell carcinomas, hepatocellular carcinomas, and in chronic renal failure kidney.5 Publications

    Gene expression databases

    ArrayExpressiQ9UEF7.
    BgeeiQ9UEF7.
    CleanExiHS_KL.
    GenevestigatoriQ9UEF7.

    Organism-specific databases

    HPAiHPA023480.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with FGF23 and FGFR1.By similarity

    Protein-protein interaction databases

    IntActiQ9UEF7. 1 interaction.
    STRINGi9606.ENSP00000369442.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UEF7.
    SMRiQ9UEF7. Positions 61-506, 518-962.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini34 – 981948ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1003 – 101210CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei982 – 100221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni57 – 506450Glycosyl hydrolase-1 1Add
    BLAST
    Regioni515 – 953439Glycosyl hydrolase-1 2Add
    BLAST

    Domaini

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2723.
    HOGENOMiHOG000060126.
    HOVERGENiHBG081856.
    InParanoidiQ9UEF7.
    KOiK14756.
    OMAiALSSHWI.
    OrthoDBiEOG7MH0XV.
    PhylomeDBiQ9UEF7.
    TreeFamiTF314803.

    Family and domain databases

    Gene3Di3.20.20.80. 2 hits.
    InterProiIPR001360. Glyco_hydro_1.
    IPR018120. Glyco_hydro_1_AS.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR028546. Klotho.
    [Graphical view]
    PANTHERiPTHR10353. PTHR10353. 1 hit.
    PTHR10353:SF10. PTHR10353:SF10. 1 hit.
    PfamiPF00232. Glyco_hydro_1. 3 hits.
    [Graphical view]
    PRINTSiPR00131. GLHYDRLASE1.
    SUPFAMiSSF51445. SSF51445. 2 hits.
    PROSITEiPS00653. GLYCOSYL_HYDROL_F1_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UEF7-1) [UniParc]FASTAAdd to Basket

    Also known as: Membrane-bound

    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

    MPASAPPRRP RPPPPSLSLL LVLLGLGGRR LRAEPGDGAQ TWARFSRPPA     50
    PEAAGLFQGT FPDGFLWAVG SAAYQTEGGW QQHGKGASIW DTFTHHPLAP 100
    PGDSRNASLP LGAPSPLQPA TGDVASDSYN NVFRDTEALR ELGVTHYRFS 150
    ISWARVLPNG SAGVPNREGL RYYRRLLERL RELGVQPVVT LYHWDLPQRL 200
    QDAYGGWANR ALADHFRDYA ELCFRHFGGQ VKYWITIDNP YVVAWHGYAT 250
    GRLAPGIRGS PRLGYLVAHN LLLAHAKVWH LYNTSFRPTQ GGQVSIALSS 300
    HWINPRRMTD HSIKECQKSL DFVLGWFAKP VFIDGDYPES MKNNLSSILP 350
    DFTESEKKFI KGTADFFALC FGPTLSFQLL DPHMKFRQLE SPNLRQLLSW 400
    IDLEFNHPQI FIVENGWFVS GTTKRDDAKY MYYLKKFIME TLKAIKLDGV 450
    DVIGYTAWSL MDGFEWHRGY SIRRGLFYVD FLSQDKMLLP KSSALFYQKL 500
    IEKNGFPPLP ENQPLEGTFP CDFAWGVVDN YIQVDTTLSQ FTDLNVYLWD 550
    VHHSKRLIKV DGVVTKKRKS YCVDFAAIQP QIALLQEMHV THFRFSLDWA 600
    LILPLGNQSQ VNHTILQYYR CMASELVRVN ITPVVALWQP MAPNQGLPRL 650
    LARQGAWENP YTALAFAEYA RLCFQELGHH VKLWITMNEP YTRNMTYSAG 700
    HNLLKAHALA WHVYNEKFRH AQNGKISIAL QADWIEPACP FSQKDKEVAE 750
    RVLEFDIGWL AEPIFGSGDY PWVMRDWLNQ RNNFLLPYFT EDEKKLIQGT 800
    FDFLALSHYT TILVDSEKED PIKYNDYLEV QEMTDITWLN SPSQVAVVPW 850
    GLRKVLNWLK FKYGDLPMYI ISNGIDDGLH AEDDQLRVYY MQNYINEALK 900
    AHILDGINLC GYFAYSFNDR TAPRFGLYRY AADQFEPKAS MKHYRKIIDS 950
    NGFPGPETLE RFCPEEFTVC TECSFFHTRK SLLAFIAFLF FASIISLSLI 1000
    FYYSKKGRRS YK 1012
    Length:1,012
    Mass (Da):116,181
    Last modified:October 11, 2005 - v2
    Checksum:i62031BD73E322E63
    GO
    Isoform 2 (identifier: Q9UEF7-2) [UniParc]FASTAAdd to Basket

    Also known as: Secreted

    The sequence of this isoform differs from the canonical sequence as follows:
         535-549: DTTLSQFTDLNVYLW → SQLTKPISSLTKPYH
         550-1012: Missing.

    Note: Predominates over the membrane form in all tissues examined.

    Show »
    Length:549
    Mass (Da):62,135
    Checksum:iCAD8D74DB71C49C6
    GO

    Polymorphismi

    Homozygosity for KL-VS allele is associated with decreased longevity and increased cardiovascular disease risk.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151P → Q.1 Publication
    Corresponds to variant rs1052018 [ dbSNP | Ensembl ].
    VAR_023582
    Natural varianti45 – 451F → V.1 Publication
    Corresponds to variant rs1052019 [ dbSNP | Ensembl ].
    VAR_023583
    Natural varianti193 – 1931H → R in HFTC; impairs the ability to form a ternary complex with FGF23 and FGFR1c; impairs KL-dependent FGF23 signaling. 1 Publication
    VAR_064554
    Natural varianti352 – 3521F → V in allele KL-VS; associated with S-370. 2 Publications
    Corresponds to variant rs9536314 [ dbSNP | Ensembl ].
    VAR_023584
    Natural varianti370 – 3701C → S in allele KL-VS; associated with V-352. 2 Publications
    Corresponds to variant rs9527025 [ dbSNP | Ensembl ].
    VAR_023585
    Natural varianti514 – 5141P → S.
    Corresponds to variant rs3752472 [ dbSNP | Ensembl ].
    VAR_049295
    Natural varianti954 – 9541P → L in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036449

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei535 – 54915DTTLS…NVYLW → SQLTKPISSLTKPYH in isoform 2. 1 PublicationVSP_015824Add
    BLAST
    Alternative sequencei550 – 1012463Missing in isoform 2. 1 PublicationVSP_015825Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB005142 mRNA. Translation: BAA23382.1.
    AB009667 Genomic DNA. Translation: BAA24940.1.
    AB009667 Genomic DNA. Translation: BAA24941.1.
    AL161898 Genomic DNA. Translation: CAH71888.1.
    Z92540 Genomic DNA. Translation: CAC94767.1.
    Z84483 Genomic DNA. Translation: CAC94773.1.
    CCDSiCCDS9347.1. [Q9UEF7-1]
    PIRiJC5925.
    JC5926.
    RefSeqiNP_004786.2. NM_004795.3. [Q9UEF7-1]
    UniGeneiHs.524953.

    Genome annotation databases

    EnsembliENST00000380099; ENSP00000369442; ENSG00000133116. [Q9UEF7-1]
    GeneIDi9365.
    KEGGihsa:9365.
    UCSCiuc001uus.3. human. [Q9UEF7-1]

    Polymorphism databases

    DMDMi77416517.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    The thread of life - Issue 65 of December 2005

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB005142 mRNA. Translation: BAA23382.1 .
    AB009667 Genomic DNA. Translation: BAA24940.1 .
    AB009667 Genomic DNA. Translation: BAA24941.1 .
    AL161898 Genomic DNA. Translation: CAH71888.1 .
    Z92540 Genomic DNA. Translation: CAC94767.1 .
    Z84483 Genomic DNA. Translation: CAC94773.1 .
    CCDSi CCDS9347.1. [Q9UEF7-1 ]
    PIRi JC5925.
    JC5926.
    RefSeqi NP_004786.2. NM_004795.3. [Q9UEF7-1 ]
    UniGenei Hs.524953.

    3D structure databases

    ProteinModelPortali Q9UEF7.
    SMRi Q9UEF7. Positions 61-506, 518-962.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9UEF7. 1 interaction.
    STRINGi 9606.ENSP00000369442.

    Protein family/group databases

    CAZyi GH1. Glycoside Hydrolase Family 1.

    PTM databases

    PhosphoSitei Q9UEF7.

    Polymorphism databases

    DMDMi 77416517.

    Proteomic databases

    PaxDbi Q9UEF7.
    PRIDEi Q9UEF7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000380099 ; ENSP00000369442 ; ENSG00000133116 . [Q9UEF7-1 ]
    GeneIDi 9365.
    KEGGi hsa:9365.
    UCSCi uc001uus.3. human. [Q9UEF7-1 ]

    Organism-specific databases

    CTDi 9365.
    GeneCardsi GC13P033590.
    H-InvDB HIX0011224.
    HGNCi HGNC:6344. KL.
    HPAi HPA023480.
    MIMi 211900. phenotype.
    604824. gene+phenotype.
    neXtProti NX_Q9UEF7.
    Orphaneti 306661. Hypercalcemic tumoral calcinosis.
    PharmGKBi PA30130.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2723.
    HOGENOMi HOG000060126.
    HOVERGENi HBG081856.
    InParanoidi Q9UEF7.
    KOi K14756.
    OMAi ALSSHWI.
    OrthoDBi EOG7MH0XV.
    PhylomeDBi Q9UEF7.
    TreeFami TF314803.

    Enzyme and pathway databases

    Reactomei REACT_111184. Negative regulation of FGFR signaling.
    REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
    REACT_21247. FRS2-mediated cascade.
    REACT_21270. PI-3K cascade.
    REACT_21310. Phospholipase C-mediated cascade.
    REACT_21374. SHC-mediated cascade.
    REACT_75829. PIP3 activates AKT signaling.
    REACT_9484. FGFR1c and Klotho ligand binding and activation.
    REACT_976. PI3K Cascade.

    Miscellaneous databases

    GeneWikii Klotho_(biology).
    GenomeRNAii 9365.
    NextBioi 35073.
    PMAP-CutDB Q9UEF7.
    PROi Q9UEF7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UEF7.
    Bgeei Q9UEF7.
    CleanExi HS_KL.
    Genevestigatori Q9UEF7.

    Family and domain databases

    Gene3Di 3.20.20.80. 2 hits.
    InterProi IPR001360. Glyco_hydro_1.
    IPR018120. Glyco_hydro_1_AS.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR028546. Klotho.
    [Graphical view ]
    PANTHERi PTHR10353. PTHR10353. 1 hit.
    PTHR10353:SF10. PTHR10353:SF10. 1 hit.
    Pfami PF00232. Glyco_hydro_1. 3 hits.
    [Graphical view ]
    PRINTSi PR00131. GLHYDRLASE1.
    SUPFAMi SSF51445. SSF51445. 2 hits.
    PROSITEi PS00653. GLYCOSYL_HYDROL_F1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT VAL-45.
      Tissue: Kidney.
    2. "Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein."
      Matsumura Y., Aizawa H., Shiraki-Iida T., Nagai R., Kuro-o M., Nabeshima Y.
      Biochem. Biophys. Res. Commun. 242:626-630(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANT GLN-15, TISSUE SPECIFICITY.
      Tissue: Hippocampus and Kidney.
    3. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    5. Cited for: TISSUE SPECIFICITY.
    6. Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN RENAL FAILURE.
    7. "Secreted Klotho protein in sera and CSF: implication for post-translational cleavage in release of Klotho protein from cell membrane."
      Imura A., Iwano A., Tohyama O., Tsuji Y., Nozaki K., Hashimoto N., Fujimori T., Nabeshima Y.
      FEBS Lett. 565:143-147(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    8. Cited for: VARIANTS KL-VS VAL-352 AND SER-370.
    9. "Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity."
      Arking D.E., Atzmon G., Arking A., Barzilai N., Dietz H.C.
      Circ. Res. 96:412-418(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS KL-VS VAL-352 AND SER-370.
    10. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-954.
    11. Cited for: VARIANT HFTC ARG-193.

    Entry informationi

    Entry nameiKLOT_HUMAN
    AccessioniPrimary (citable) accession number: Q9UEF7
    Secondary accession number(s): Q5VZ95
    , Q96KV5, Q96KW5, Q9UEI9, Q9Y4F0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 11, 2005
    Last sequence update: October 11, 2005
    Last modified: October 1, 2014
    This is version 116 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

    Miscellaneous

    Defects in KL may be a cause of chronic renal failure complications.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 13
      Human chromosome 13: 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. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3