SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9UEF7

- KLOT_HUMAN

UniProt

Q9UEF7 - KLOT_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Klotho

Gene
KL
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.
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
Complete GO annotation...

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.2 Publications
Isoform 2 : Secreted 2 Publications
Chain Klotho peptide : Secreted 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini34 – 981948Extracellular Reviewed predictionAdd
BLAST
Transmembranei982 – 100221Helical; Reviewed predictionAdd
BLAST
Topological domaini1003 – 101210Cytoplasmic Reviewed prediction

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 3333 Reviewed predictionAdd
BLAST
Chaini34 – 1012979KlothoPRO_0000042243Add
BLAST
Chaini34 – ?Klotho peptide By similarityPRO_0000042244

Amino acid modifications

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

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 By similarity. 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.

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. VSP_015824Add
BLAST
Alternative sequencei550 – 1012463Missing in isoform 2. VSP_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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 115 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

Similar proteinsi