O60938 (KERA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Keratocan
Short name=KTN

Alternative name(s):
Keratan sulfate proteoglycan keratocan

Gene names

Name:	KERA
Synonyms:	SLRR2B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	352 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Secreted › extracellular space › extracellular 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.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Extracellular matrix Secreted
Disease	Disease mutation
Domain	Leucine-rich repeat Repeat Signal
PTM	Disulfide bond Glycoprotein Proteoglycan
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Traceable author statement. Source: Reactome cornea development in camera-type eye Inferred from electronic annotation. Source: Compara keratan sulfate biosynthetic process Traceable author statement. Source: Reactome keratan sulfate catabolic process Traceable author statement. Source: Reactome response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Golgi lumen Traceable author statement. Source: Reactome lysosomal lumen Traceable author statement. Source: Reactome proteinaceous extracellular matrix Non-traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 352	332	Keratocan		PRO_0000032748
Regions
	Domain	33 – 71	39	LRRNT
	Repeat	72 – 93	22	LRR 1
	Repeat	96 – 117	22	LRR 2
	Repeat	122 – 142	21	LRR 3
	Repeat	143 – 164	22	LRR 4
	Repeat	167 – 180	14	LRR 5
	Repeat	193 – 213	21	LRR 6
	Repeat	214 – 235	22	LRR 7
	Repeat	238 – 258	21	LRR 8
	Repeat	263 – 282	20	LRR 9
	Repeat	283 – 304	22	LRR 10
	Compositional bias	42 – 58	17	Cys-rich
Amino acid modifications
	Glycosylation	93	1	N-linked (GlcNAc...) (keratan sulfate) By similarity
	Glycosylation	167	1	N-linked (GlcNAc...) (keratan sulfate) By similarity
	Glycosylation	222	1	N-linked (GlcNAc...) Potential
	Glycosylation	298	1	N-linked (GlcNAc...) Ref.5
	Disulfide bond	303 ↔ 343		By similarity
Natural variations
	Natural variant	215	1	T → K in CNA2. Ref.6		VAR_012753
	Natural variant	235	1	V → G. Corresponds to variant rs737111 [ dbSNP | Ensembl ].		VAR_013564
	Natural variant	247	1	N → S in CNA2. Ref.2		VAR_012754

Sequences

	Sequence		Length	Mass (Da)
	O60938 [UniParc]. Last modified August 1, 1998. Version 1. Checksum: 0CF8DEC938852D28	FASTA	352	40,509
	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

References

	« Hide 'large scale' referencesShow '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, MASS SPECTROMETRY. 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.
IPI	IPI00013049.
RefSeq	NP_008966.1. NM_007035.3.
UniGene	Hs.125750.
3D structure databases
ProteinModelPortal	O60938.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-7970761.
STRING	9606.ENSP00000266719.
PTM databases
PhosphoSite	O60938.
Proteomic databases
PaxDb	O60938.
PRIDE	O60938.
Protocols and materials databases
DNASU	11081.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000266719; ENSP00000266719; ENSG00000139330.
GeneID	11081.
KEGG	hsa:11081.
UCSC	uc001tbl.3. human.
Organism-specific databases
CTD	11081.
GeneCards	GC12M091377.
HGNC	HGNC:6309. KERA.
HPA	HPA039321.
MIM	217300. phenotype. 603288. gene.
neXtProt	NX_O60938.
Orphanet	53691. Congenital cornea plana.
PharmGKB	PA30088.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG4886.
HOGENOM	HOG000234447.
HOVERGEN	HBG108061.
InParanoid	O60938.
KO	K08123.
OMA	RWINLNK.
OrthoDB	EOG4KSPK3.
PhylomeDB	O60938.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_116125. Disease.
Gene expression databases
Bgee	O60938.
CleanEx	HS_KERA.
Genevestigator	O60938.
GermOnline	ENSG00000139330. Homo sapiens.
Family and domain databases
InterPro	IPR001611. Leu-rich_rpt. IPR000372. LRR-contain_N. [Graphical view]
Pfam	PF01462. LRRNT. 1 hit. [Graphical view]
SMART	SM00013. LRRNT. 1 hit. [Graphical view]
PROSITE	PS51450. LRR. 11 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	11081.
NextBio	42130.
SOURCE	Search...

Entry information

Entry name

KERA_HUMAN

Accession

Primary (citable) accession number: O60938

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 11, 2002
Last sequence update:	August 1, 1998
Last modified:	May 29, 2013
This is version 125 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.