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Protein

Keratocan

Gene

KERA

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

Functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

Enzyme and pathway databases

ReactomeiR-HSA-2022854. Keratan sulfate biosynthesis.
R-HSA-2022857. Keratan sulfate degradation.
R-HSA-3656225. Defective CHST6 causes MCDC1.
R-HSA-3656243. Defective ST3GAL3 causes MCT12 and EIEE15.
R-HSA-3656244. Defective B4GALT1 causes B4GALT1-CDG (CDG-2d).

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:6309. KERA.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Cornea plana 2, autosomal recessive (CNA2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea.
See also OMIM:217300
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti215 – 2151T → K in CNA2. 1 Publication
Corresponds to variant rs121917862 [ dbSNP | Ensembl ].
VAR_012753
Natural varianti247 – 2471N → S in CNA2. 1 Publication
Corresponds to variant rs121917858 [ dbSNP | Ensembl ].
VAR_012754

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiKERA.

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

EPDiO60938.
PaxDbiO60938.
PeptideAtlasiO60938.
PRIDEiO60938.

PTM databases

iPTMnetiO60938.
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.
GenevisibleiO60938. HS.

Organism-specific databases

HPAiHPA039321.

Interactioni

Protein-protein interaction databases

BioGridi116264. 14 interactions.
IntActiO60938. 2 interactions.
MINTiMINT-7970761.
STRINGi9606.ENSP00000266719.

Structurei

3D structure databases

ProteinModelPortaliO60938.
SMRiO60938. Positions 16-340.
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

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118969.
HOGENOMiHOG000234447.
HOVERGENiHBG108061.
InParanoidiO60938.
KOiK08123.
OMAiMWVLFIT.
OrthoDBiEOG741Z2B.
PhylomeDBiO60938.
TreeFamiTF334562.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
[Graphical view]
PfamiPF13516. LRR_6. 1 hit.
PF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 6 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
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

        10         20         30         40         50
MAGTICFIMW VLFITDTVWS RSVRQVYEVH DSDDWTIHDF ECPMECFCPP
60 70 80 90 100
SFPTALYCEN RGLKEIPAIP SRIWYLYLQN NLIETIPEKP FENATQLRWI
110 120 130 140 150
NLNKNKITNY GIEKGALSQL KKLLFLFLED NELEEVPSPL PRSLEQLQLA
160 170 180 190 200
RNKVSRIPQG TFSNLENLTL LDLQNNKLVD NAFQRDTFKG LKNLMQLNMA
210 220 230 240 250
KNALRNMPPR LPANTMQLFL DNNSIEGIPE NYFNVIPKVA FLRLNHNKLS
260 270 280 290 300
DEGLPSRGFD VSSILDLQLS HNQLTKVPRI SAHLQHLHLD HNKIKSVNVS
310 320 330 340 350
VICPSPSMLP AERDSFSYGP HLRYLRLDGN EIKPPIPMAL MTCFRLLQAV

II
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
Corresponds to variant rs121917862 [ dbSNP | Ensembl ].
VAR_012753
Natural varianti235 – 2351V → G.
Corresponds to variant rs737111 [ dbSNP | Ensembl ].
VAR_013564
Natural varianti247 – 2471N → S in CNA2. 1 Publication
Corresponds to variant rs121917858 [ dbSNP | Ensembl ].
VAR_012754

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
XP_011536083.1. XM_011537781.1.
UniGeneiHs.125750.

Genome annotation databases

EnsembliENST00000266719; ENSP00000266719; ENSG00000139330.
GeneIDi11081.
KEGGihsa:11081.
UCSCiuc001tbl.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
XP_011536083.1. XM_011537781.1.
UniGeneiHs.125750.

3D structure databases

ProteinModelPortaliO60938.
SMRiO60938. Positions 16-340.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116264. 14 interactions.
IntActiO60938. 2 interactions.
MINTiMINT-7970761.
STRINGi9606.ENSP00000266719.

PTM databases

iPTMnetiO60938.
PhosphoSiteiO60938.

Polymorphism and mutation databases

BioMutaiKERA.

Proteomic databases

EPDiO60938.
PaxDbiO60938.
PeptideAtlasiO60938.
PRIDEiO60938.

Protocols and materials databases

DNASUi11081.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266719; ENSP00000266719; ENSG00000139330.
GeneIDi11081.
KEGGihsa:11081.
UCSCiuc001tbl.4. human.

Organism-specific databases

CTDi11081.
GeneCardsiKERA.
HGNCiHGNC:6309. KERA.
HPAiHPA039321.
MalaCardsiKERA.
MIMi217300. phenotype.
603288. gene.
neXtProtiNX_O60938.
Orphaneti53691. Congenital cornea plana.
PharmGKBiPA30088.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118969.
HOGENOMiHOG000234447.
HOVERGENiHBG108061.
InParanoidiO60938.
KOiK08123.
OMAiMWVLFIT.
OrthoDBiEOG741Z2B.
PhylomeDBiO60938.
TreeFamiTF334562.

Enzyme and pathway databases

ReactomeiR-HSA-2022854. Keratan sulfate biosynthesis.
R-HSA-2022857. Keratan sulfate degradation.
R-HSA-3656225. Defective CHST6 causes MCDC1.
R-HSA-3656243. Defective ST3GAL3 causes MCT12 and EIEE15.
R-HSA-3656244. Defective B4GALT1 causes B4GALT1-CDG (CDG-2d).

Miscellaneous databases

GeneWikiiKeratocan.
GenomeRNAii11081.
PROiO60938.
SOURCEiSearch...

Gene expression databases

BgeeiO60938.
CleanExiHS_KERA.
GenevisibleiO60938. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
[Graphical view]
PfamiPF13516. LRR_6. 1 hit.
PF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 6 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 11 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: July 6, 2016
This is version 156 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.