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Protein

Keratocan

Gene

KERA

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

Functioni

May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.2 Publications

GO - Biological processi

Keywordsi

Biological processSensory 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

EuPathDBiHostDB:ENSG00000139330.5
HGNCiHGNC:6309 KERA
MIMi603288 gene
neXtProtiNX_O60938

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_012753215T → K in CNA2. 1 PublicationCorresponds to variant dbSNP:rs121917862EnsemblClinVar.1
Natural variantiVAR_012754247N → S in CNA2. 1 PublicationCorresponds to variant dbSNP:rs121917858EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi11081
MalaCardsiKERA
MIMi217300 phenotype
OpenTargetsiENSG00000139330
Orphaneti53691 Congenital cornea plana
PharmGKBiPA30088

Polymorphism and mutation databases

BioMutaiKERA

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000003274821 – 352KeratocanAdd BLAST332

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi42 ↔ 48By similarity
Disulfide bondi46 ↔ 58By similarity
Glycosylationi93N-linked (GlcNAc...) (keratan sulfate) asparagineBy similarity1
Glycosylationi167N-linked (GlcNAc...) (keratan sulfate) asparagineBy similarity1
Glycosylationi222N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi298N-linked (GlcNAc...) asparagine1 Publication1
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
ProteomicsDBi49681

PTM databases

GlyConnecti1432
iPTMnetiO60938
PhosphoSitePlusiO60938

Expressioni

Tissue specificityi

Cornea (at protein level) (PubMed:10802664, PubMed:11683372). Increased expression in the stroma of keratoconus corneas (PubMed:11683372). Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen (PubMed:10802664).2 Publications

Gene expression databases

BgeeiENSG00000139330 Expressed in 52 organ(s), highest expression level in cartilage tissue
CleanExiHS_KERA
GenevisibleiO60938 HS

Organism-specific databases

HPAiHPA039321

Interactioni

Protein-protein interaction databases

BioGridi116264, 13 interactors
IntActiO60938, 2 interactors
MINTiO60938
STRINGi9606.ENSP00000266719

Structurei

3D structure databases

ProteinModelPortaliO60938
SMRiO60938
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 71LRRNTAdd BLAST39
Repeati72 – 93LRR 1Add BLAST22
Repeati96 – 117LRR 2Add BLAST22
Repeati122 – 142LRR 3Add BLAST21
Repeati143 – 164LRR 4Add BLAST22
Repeati167 – 180LRR 5Add BLAST14
Repeati193 – 213LRR 6Add BLAST21
Repeati214 – 235LRR 7Add BLAST22
Repeati238 – 258LRR 8Add BLAST21
Repeati263 – 282LRR 9Add BLAST20
Repeati283 – 304LRR 10Add BLAST22

Sequence similaritiesi

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00760000118969
HOGENOMiHOG000234447
HOVERGENiHBG108061
InParanoidiO60938
KOiK08123
OMAiIKPPIPM
OrthoDBiEOG091G09Q0
PhylomeDBiO60938
TreeFamiTF334562

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR000372 LRRNT
PfamiView protein in Pfam
PF13516 LRR_6, 1 hit
PF13855 LRR_8, 2 hits
SMARTiView protein in SMART
SM00369 LRR_TYP, 6 hits
SM00013 LRRNT, 1 hit
PROSITEiView protein in PROSITE
PS51450 LRR, 11 hits

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_012753215T → K in CNA2. 1 PublicationCorresponds to variant dbSNP:rs121917862EnsemblClinVar.1
Natural variantiVAR_013564235V → G. Corresponds to variant dbSNP:rs737111Ensembl.1
Natural variantiVAR_012754247N → S in CNA2. 1 PublicationCorresponds to variant dbSNP:rs121917858EnsemblClinVar.1

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
UniGeneiHs.125750

Genome annotation databases

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

Similar proteinsi

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
UniGeneiHs.125750

3D structure databases

ProteinModelPortaliO60938
SMRiO60938
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116264, 13 interactors
IntActiO60938, 2 interactors
MINTiO60938
STRINGi9606.ENSP00000266719

PTM databases

GlyConnecti1432
iPTMnetiO60938
PhosphoSitePlusiO60938

Polymorphism and mutation databases

BioMutaiKERA

Proteomic databases

EPDiO60938
PaxDbiO60938
PeptideAtlasiO60938
PRIDEiO60938
ProteomicsDBi49681

Protocols and materials databases

DNASUi11081
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi11081
DisGeNETi11081
EuPathDBiHostDB:ENSG00000139330.5
GeneCardsiKERA
HGNCiHGNC:6309 KERA
HPAiHPA039321
MalaCardsiKERA
MIMi217300 phenotype
603288 gene
neXtProtiNX_O60938
OpenTargetsiENSG00000139330
Orphaneti53691 Congenital cornea plana
PharmGKBiPA30088
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00760000118969
HOGENOMiHOG000234447
HOVERGENiHBG108061
InParanoidiO60938
KOiK08123
OMAiIKPPIPM
OrthoDBiEOG091G09Q0
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
PROiPR:O60938
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139330 Expressed in 52 organ(s), highest expression level in cartilage tissue
CleanExiHS_KERA
GenevisibleiO60938 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR000372 LRRNT
PfamiView protein in Pfam
PF13516 LRR_6, 1 hit
PF13855 LRR_8, 2 hits
SMARTiView protein in SMART
SM00369 LRR_TYP, 6 hits
SM00013 LRRNT, 1 hit
PROSITEiView protein in PROSITE
PS51450 LRR, 11 hits
ProtoNetiSearch...

Entry informationi

Entry nameiKERA_HUMAN
AccessioniPrimary (citable) accession number: O60938
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: August 1, 1998
Last modified: November 7, 2018
This is version 173 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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