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O60938

- KERA_HUMAN

UniProt

O60938 - KERA_HUMAN

Protein

Keratocan

Gene

KERA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    Functioni

    May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. cornea development in camera-type eye Source: Ensembl
    3. glycosaminoglycan metabolic process Source: Reactome
    4. keratan sulfate biosynthetic process Source: Reactome
    5. keratan sulfate catabolic process Source: Reactome
    6. keratan sulfate metabolic process Source: Reactome
    7. response to stimulus Source: UniProtKB-KW
    8. small molecule metabolic process Source: Reactome
    9. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Sensory transduction, Vision

    Enzyme and pathway databases

    ReactomeiREACT_121120. Keratan sulfate biosynthesis.
    REACT_121313. Keratan sulfate degradation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratocan
    Short name:
    KTN
    Alternative name(s):
    Keratan sulfate proteoglycan keratocan
    Gene namesi
    Name:KERA
    Synonyms:SLRR2B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6309. KERA.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: Reactome
    2. Golgi lumen Source: Reactome
    3. lysosomal lumen Source: Reactome
    4. proteinaceous extracellular matrix Source: UniProtKB

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]: In CNA2, the forward convex curvature is flattened, leading to a decrease in refraction, reduced visual activity, extreme hyperopia (usually plus 10 d or more), hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis (often detected at an early age). CNA2 is a rare disorder with a worldwide distribution, but a high prevalence in the Finnish population.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti215 – 2151T → K in CNA2. 1 Publication
    VAR_012753
    Natural varianti247 – 2471N → S in CNA2. 1 Publication
    VAR_012754

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi217300. phenotype.
    Orphaneti53691. Congenital cornea plana.
    PharmGKBiPA30088.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 352332KeratocanPRO_0000032748Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi93 – 931N-linked (GlcNAc...) (keratan sulfate)By similarity
    Glycosylationi167 – 1671N-linked (GlcNAc...) (keratan sulfate)By similarity
    Glycosylationi222 – 2221N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi298 – 2981N-linked (GlcNAc...)1 Publication
    Disulfide bondi303 ↔ 343By similarity

    Post-translational modificationi

    Binds keratan sulfate chains.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Proteoglycan

    Proteomic databases

    PaxDbiO60938.
    PRIDEiO60938.

    PTM databases

    PhosphoSiteiO60938.

    Expressioni

    Tissue specificityi

    Cornea. Increased expression in the stroma of keratoconus corneas. Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen.1 Publication

    Gene expression databases

    BgeeiO60938.
    CleanExiHS_KERA.
    GenevestigatoriO60938.

    Organism-specific databases

    HPAiHPA039321.

    Interactioni

    Protein-protein interaction databases

    BioGridi116264. 1 interaction.
    IntActiO60938. 2 interactions.
    MINTiMINT-7970761.
    STRINGi9606.ENSP00000266719.

    Structurei

    3D structure databases

    ProteinModelPortaliO60938.
    SMRiO60938. Positions 41-340.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini33 – 7139LRRNTAdd
    BLAST
    Repeati72 – 9322LRR 1Add
    BLAST
    Repeati96 – 11722LRR 2Add
    BLAST
    Repeati122 – 14221LRR 3Add
    BLAST
    Repeati143 – 16422LRR 4Add
    BLAST
    Repeati167 – 18014LRR 5Add
    BLAST
    Repeati193 – 21321LRR 6Add
    BLAST
    Repeati214 – 23522LRR 7Add
    BLAST
    Repeati238 – 25821LRR 8Add
    BLAST
    Repeati263 – 28220LRR 9Add
    BLAST
    Repeati283 – 30422LRR 10Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi42 – 5817Cys-richAdd
    BLAST

    Sequence similaritiesi

    Contains 10 LRR (leucine-rich) repeats.Curated
    Contains 1 LRRNT domain.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat, Signal

    Phylogenomic databases

    eggNOGiCOG4886.
    HOGENOMiHOG000234447.
    HOVERGENiHBG108061.
    InParanoidiO60938.
    KOiK08123.
    OMAiRWINLNK.
    OrthoDBiEOG741Z2B.
    PhylomeDBiO60938.
    TreeFamiTF334562.

    Family and domain databases

    InterProiIPR001611. Leu-rich_rpt.
    IPR000372. LRR-contain_N.
    [Graphical view]
    PfamiPF13855. LRR_8. 2 hits.
    PF01462. LRRNT. 1 hit.
    [Graphical view]
    SMARTiSM00013. LRRNT. 1 hit.
    [Graphical view]
    PROSITEiPS51450. LRR. 11 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    O60938-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAGTICFIMW VLFITDTVWS RSVRQVYEVH DSDDWTIHDF ECPMECFCPP    50
    SFPTALYCEN RGLKEIPAIP SRIWYLYLQN NLIETIPEKP FENATQLRWI 100
    NLNKNKITNY GIEKGALSQL KKLLFLFLED NELEEVPSPL PRSLEQLQLA 150
    RNKVSRIPQG TFSNLENLTL LDLQNNKLVD NAFQRDTFKG LKNLMQLNMA 200
    KNALRNMPPR LPANTMQLFL DNNSIEGIPE NYFNVIPKVA FLRLNHNKLS 250
    DEGLPSRGFD VSSILDLQLS HNQLTKVPRI SAHLQHLHLD HNKIKSVNVS 300
    VICPSPSMLP AERDSFSYGP HLRYLRLDGN EIKPPIPMAL MTCFRLLQAV 350
    II 352
    Length:352
    Mass (Da):40,509
    Last modified:August 1, 1998 - v1
    Checksum:i0CF8DEC938852D28
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti215 – 2151T → K in CNA2. 1 Publication
    VAR_012753
    Natural varianti235 – 2351V → G.
    Corresponds to variant rs737111 [ dbSNP | Ensembl ].
    VAR_013564
    Natural varianti247 – 2471N → S in CNA2. 1 Publication
    VAR_012754

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF065988 Genomic DNA. Translation: AAC17741.1.
    AF063301 mRNA. Translation: AAC16390.1.
    AF205403 mRNA. Translation: AAF69126.1.
    BC032667 mRNA. Translation: AAH32667.1.
    CCDSiCCDS9037.1.
    RefSeqiNP_008966.1. NM_007035.3.
    UniGeneiHs.125750.

    Genome annotation databases

    EnsembliENST00000266719; ENSP00000266719; ENSG00000139330.
    GeneIDi11081.
    KEGGihsa:11081.
    UCSCiuc001tbl.3. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF065988 Genomic DNA. Translation: AAC17741.1 .
    AF063301 mRNA. Translation: AAC16390.1 .
    AF205403 mRNA. Translation: AAF69126.1 .
    BC032667 mRNA. Translation: AAH32667.1 .
    CCDSi CCDS9037.1.
    RefSeqi NP_008966.1. NM_007035.3.
    UniGenei Hs.125750.

    3D structure databases

    ProteinModelPortali O60938.
    SMRi O60938. Positions 41-340.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116264. 1 interaction.
    IntActi O60938. 2 interactions.
    MINTi MINT-7970761.
    STRINGi 9606.ENSP00000266719.

    PTM databases

    PhosphoSitei O60938.

    Proteomic databases

    PaxDbi O60938.
    PRIDEi O60938.

    Protocols and materials databases

    DNASUi 11081.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000266719 ; ENSP00000266719 ; ENSG00000139330 .
    GeneIDi 11081.
    KEGGi hsa:11081.
    UCSCi uc001tbl.3. human.

    Organism-specific databases

    CTDi 11081.
    GeneCardsi GC12M091377.
    HGNCi HGNC:6309. KERA.
    HPAi HPA039321.
    MIMi 217300. phenotype.
    603288. gene.
    neXtProti NX_O60938.
    Orphaneti 53691. Congenital cornea plana.
    PharmGKBi PA30088.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4886.
    HOGENOMi HOG000234447.
    HOVERGENi HBG108061.
    InParanoidi O60938.
    KOi K08123.
    OMAi RWINLNK.
    OrthoDBi EOG741Z2B.
    PhylomeDBi O60938.
    TreeFami TF334562.

    Enzyme and pathway databases

    Reactomei REACT_121120. Keratan sulfate biosynthesis.
    REACT_121313. Keratan sulfate degradation.

    Miscellaneous databases

    GeneWikii Keratocan.
    GenomeRNAii 11081.
    NextBioi 42130.
    PROi O60938.
    SOURCEi Search...

    Gene expression databases

    Bgeei O60938.
    CleanExi HS_KERA.
    Genevestigatori O60938.

    Family and domain databases

    InterProi IPR001611. Leu-rich_rpt.
    IPR000372. LRR-contain_N.
    [Graphical view ]
    Pfami PF13855. LRR_8. 2 hits.
    PF01462. LRRNT. 1 hit.
    [Graphical view ]
    SMARTi SM00013. LRRNT. 1 hit.
    [Graphical view ]
    PROSITEi PS51450. LRR. 11 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure and sequence of the gene encoding human keratocan."
      Tasheva E.S., Funderburgh J.L., Funderburgh M.L., Corpuz L.M., Conrad G.W.
      DNA Seq. 10:67-74(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CNA2 SER-247.
    3. "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].
      Tissue: Duodenum.
    4. "Keratocan expression is increased in the stroma of keratoconus corneas."
      Wentz-Hunter K., Cheng E.L., Ueda J., Sugar J., Yue B.Y.J.T.
      Mol. Med. 7:470-477(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, UP-REGULATION IN KERATOCONUS CORNEAS.
    5. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-298.
      Tissue: Plasma.
    6. "A novel keratocan mutation causing autosomal recessive cornea plana."
      Lehmann O.J., El-ashry M.F., Ebenezer N.D., Ocaka L., Francis P.J., Wilkie S.E., Patel R.J., Ficker L., Jordan T., Khaw P.T., Bhattacharya S.S.
      Invest. Ophthalmol. Vis. Sci. 42:3118-3122(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CNA2 LYS-215.

    Entry informationi

    Entry nameiKERA_HUMAN
    AccessioniPrimary (citable) accession number: O60938
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 11, 2002
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 138 of the entry and version 1 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. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3