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Protein

Keratocan

Gene

KERA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSensory transduction, Vision

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-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)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Keratocan
Short name:
KTN
Alternative name(s):
Keratan sulfate proteoglycan keratocan
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KERA
Synonyms:SLRR2B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000139330.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6309 KERA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603288 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60938

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
11081

MalaCards human disease database

More...
MalaCardsi
KERA
MIMi217300 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000139330

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
53691 Congenital cornea plana

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30088

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KERA

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Sequence analysisAdd BLAST20
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003274821 – 352KeratocanAdd BLAST332

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi42 ↔ 48By similarity
Disulfide bondi46 ↔ 58By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Binds keratan sulfate chains.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Proteoglycan

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O60938

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O60938

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60938

PeptideAtlas

More...
PeptideAtlasi
O60938

PRoteomics IDEntifications database

More...
PRIDEi
O60938

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49681

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1432

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60938

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60938

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000139330 Expressed in 52 organ(s), highest expression level in cartilage tissue

CleanEx database of gene expression profiles

More...
CleanExi
HS_KERA

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O60938 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039321

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116264, 13 interactors

Protein interaction database and analysis system

More...
IntActi
O60938, 2 interactors

Molecular INTeraction database

More...
MINTi
O60938

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000266719

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O60938

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O60938

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini33 – 71LRRNTAdd BLAST39
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0619 Eukaryota
COG4886 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158968

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000234447

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG108061

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O60938

KEGG Orthology (KO)

More...
KOi
K08123

Identification of Orthologs from Complete Genome Data

More...
OMAi
IKPPIPM

Database of Orthologous Groups

More...
OrthoDBi
826997at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60938

TreeFam database of animal gene trees

More...
TreeFami
TF334562

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.80.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR000372 LRRNT

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13516 LRR_6, 1 hit
PF13855 LRR_8, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00369 LRR_TYP, 6 hits
SM00013 LRRNT, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51450 LRR, 11 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF065988 Genomic DNA Translation: AAC17741.1
AF063301 mRNA Translation: AAC16390.1
AF205403 mRNA Translation: AAF69126.1
BC032667 mRNA Translation: AAH32667.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9037.1

NCBI Reference Sequences

More...
RefSeqi
NP_008966.1, NM_007035.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.125750

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000266719; ENSP00000266719; ENSG00000139330

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
11081

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:11081

UCSC genome browser

More...
UCSCi
uc001tbl.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
jPOSTiO60938
PaxDbiO60938
PeptideAtlasiO60938
PRIDEiO60938
ProteomicsDBi49681

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
11081
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
11081
DisGeNETi11081
EuPathDBiHostDB:ENSG00000139330.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KERA
HGNCiHGNC:6309 KERA
HPAiHPA039321
MalaCardsiKERA
MIMi217300 phenotype
603288 gene
neXtProtiNX_O60938
OpenTargetsiENSG00000139330
Orphaneti53691 Congenital cornea plana
PharmGKBiPA30088

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00940000158968
HOGENOMiHOG000234447
HOVERGENiHBG108061
InParanoidiO60938
KOiK08123
OMAiIKPPIPM
OrthoDBi826997at2759
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

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Keratocan

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
11081

Protein Ontology

More...
PROi
PR:O60938

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKERA_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60938
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: August 1, 1998
Last modified: January 16, 2019
This is version 175 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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