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O60938 (KERA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Keratocan

Short name=KTN
Alternative name(s):
Keratan sulfate proteoglycan keratocan
Gene names
Name:KERA
Synonyms:SLRR2B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length352 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Secretedextracellular spaceextracellular matrix By similarity.

Tissue specificity

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. Ref.4

Post-translational modification

Binds keratan sulfate chains By similarity.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.6

Sequence similarities

Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.

Contains 10 LRR (leucine-rich) repeats.

Contains 1 LRRNT domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 352332Keratocan
PRO_0000032748

Regions

Domain33 – 7139LRRNT
Repeat72 – 9322LRR 1
Repeat96 – 11722LRR 2
Repeat122 – 14221LRR 3
Repeat143 – 16422LRR 4
Repeat167 – 18014LRR 5
Repeat193 – 21321LRR 6
Repeat214 – 23522LRR 7
Repeat238 – 25821LRR 8
Repeat263 – 28220LRR 9
Repeat283 – 30422LRR 10
Compositional bias42 – 5817Cys-rich

Amino acid modifications

Glycosylation931N-linked (GlcNAc...) (keratan sulfate) By similarity
Glycosylation1671N-linked (GlcNAc...) (keratan sulfate) By similarity
Glycosylation2221N-linked (GlcNAc...) Potential
Glycosylation2981N-linked (GlcNAc...) Ref.5
Disulfide bond303 ↔ 343 By similarity

Natural variations

Natural variant2151T → K in CNA2. Ref.6
VAR_012753
Natural variant2351V → G.
Corresponds to variant rs737111 [ dbSNP | Ensembl ].
VAR_013564
Natural variant2471N → S in CNA2. Ref.2
VAR_012754

Sequences

Sequence LengthMass (Da)Tools
O60938 [UniParc].

Last modified August 1, 1998. Version 1.
Checksum: 0CF8DEC938852D28

FASTA35240,509
        10         20         30         40         50         60 
MAGTICFIMW VLFITDTVWS RSVRQVYEVH DSDDWTIHDF ECPMECFCPP SFPTALYCEN 

        70         80         90        100        110        120 
RGLKEIPAIP SRIWYLYLQN NLIETIPEKP FENATQLRWI NLNKNKITNY GIEKGALSQL 

       130        140        150        160        170        180 
KKLLFLFLED NELEEVPSPL PRSLEQLQLA RNKVSRIPQG TFSNLENLTL LDLQNNKLVD 

       190        200        210        220        230        240 
NAFQRDTFKG LKNLMQLNMA KNALRNMPPR LPANTMQLFL DNNSIEGIPE NYFNVIPKVA 

       250        260        270        280        290        300 
FLRLNHNKLS DEGLPSRGFD VSSILDLQLS HNQLTKVPRI SAHLQHLHLD HNKIKSVNVS 

       310        320        330        340        350 
VICPSPSMLP AERDSFSYGP HLRYLRLDGN EIKPPIPMAL MTCFRLLQAV II 

« Hide

References

« Hide 'large scale' references
[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]"Mutations in KERA, encoding keratocan, cause cornea plana."
Pellegata N.S., Dieguez-Lucena J.L., Joensuu T., Lau S., Montgomery K.T., Krahe R., Kivelae T., Kucherlapati R., Forsius H., de la Chapelle A.
Nat. Genet. 25:91-95(2000) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF065988 Genomic DNA. Translation: AAC17741.1.
AF063301 mRNA. Translation: AAC16390.1.
AF205403 mRNA. Translation: AAF69126.1.
BC032667 mRNA. Translation: AAH32667.1.
CCDSCCDS9037.1.
RefSeqNP_008966.1. NM_007035.3.
UniGeneHs.125750.

3D structure databases

ProteinModelPortalO60938.
SMRO60938. Positions 41-340.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116264. 1 interaction.
IntActO60938. 1 interaction.
MINTMINT-7970761.
STRING9606.ENSP00000266719.

PTM databases

PhosphoSiteO60938.

Proteomic databases

PaxDbO60938.
PRIDEO60938.

Protocols and materials databases

DNASU11081.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000266719; ENSP00000266719; ENSG00000139330.
GeneID11081.
KEGGhsa:11081.
UCSCuc001tbl.3. human.

Organism-specific databases

CTD11081.
GeneCardsGC12M091377.
HGNCHGNC:6309. KERA.
HPAHPA039321.
MIM217300. phenotype.
603288. gene.
neXtProtNX_O60938.
Orphanet53691. Congenital cornea plana.
PharmGKBPA30088.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4886.
HOGENOMHOG000234447.
HOVERGENHBG108061.
InParanoidO60938.
KOK08123.
OMARWINLNK.
OrthoDBEOG741Z2B.
PhylomeDBO60938.
TreeFamTF334562.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

BgeeO60938.
CleanExHS_KERA.
GenevestigatorO60938.

Family and domain databases

InterProIPR001611. Leu-rich_rpt.
IPR000372. LRR-contain_N.
[Graphical view]
PfamPF13855. LRR_8. 2 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
SMARTSM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEPS51450. LRR. 11 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKeratocan.
GenomeRNAi11081.
NextBio42130.
PROO60938.
SOURCESearch...

Entry information

Entry nameKERA_HUMAN
AccessionPrimary (citable) accession number: O60938
Entry history
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: August 1, 1998
Last modified: July 9, 2014
This is version 136 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM