Reactome | UniProt:O60938 KERA

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UniProt:O60938 KERA Show undefined attributes

chain	signal peptide:1-20 chain:21-352
checksum	0CF8DEC938852D28
comment	FUNCTION May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.SUBCELLULAR LOCATION 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).PTM Binds keratan sulfate chains.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
crossReference	[DatabaseIdentifier:12391892] RefSeq:NP_008966.1 [DatabaseIdentifier:12293487] Pharos - Targets:O60938 [DatabaseIdentifier:12276663] PRO:O60938 [DatabaseIdentifier:12137115] Orphanet:KERA [DatabaseIdentifier:12133319] OpenTargets:ENSG00000139330 [DatabaseIdentifier:11848627] HPA:ENSG00000139330-KERA [DatabaseIdentifier:11832735] HMDB Protein:HMDBP02315 [DatabaseIdentifier:11811460] GlyGen:O60938 [DatabaseIdentifier:11795660] GeneCards:KERA [DatabaseIdentifier:11707947] ENSEMBL:ENST00000266719 [DatabaseIdentifier:11585248] ENSEMBL:ENSP00000266719 [DatabaseIdentifier:11483282] ENSEMBL:ENSG00000139330
databaseName	UniProt
dbId	57995
description	recommendedName: Keratocan shortName: KTN alternativeName: Keratan sulfate proteoglycan keratocan
displayName	UniProt:O60938 KERA
geneName	KERA SLRR2B
identifier	O60938
isSequenceChanged	false
keyword	Disease variant Disulfide bond Extracellular matrix Glycoprotein Leucine-rich repeat Proteoglycan Proteomics identification Reference proteome Repeat Secreted Sensory transduction Signal Vision
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	KERA
otherIdentifier	11081 11728031_at 16768401 220504_PM_at 220504_at 3465228 3465229 3465230 3465233 3465234 3465235 7965398 81884_r_at A_24_P261750 GE58431 GO:0005515 GO:0005576 GO:0005615 GO:0005796 GO:0007601 GO:0030312 GO:0031012 GO:0043202 GO:0048856 GO:0050877 GO:0061303 HMNXSV003026649 ILMN_1732678 ILMN_2151304 PH_hs_0007122 TC12001802.hg g8659566_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-2105019] KERA [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046150] N-glycan KERA [Golgi lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046230] Gal-glycan KERA [Golgi lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046261] Keratan(1)-KERA [Golgi lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046267] Keratan(2)-KERA [Golgi lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046272] Keratan(3)-KERA [Golgi lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046212] Keratan(4)-KERA [Golgi lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046290] KS(1)-KERA [Golgi lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046215] KS(2)-KERA [Golgi lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046151] KS(2)-KERA [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2046192] KS(2)-KERA [extracellular region] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12743905] UCSC:O60938 KERA [ReferenceDNASequence:12117595] OMIM:603288 KERA [ReferenceDNASequence:12062557] NCBI Gene:11081 KERA [ReferenceDNASequence:11978464] Monarch:11081 KERA [ReferenceDNASequence:11888629] KEGG:hsa:11081 KERA [ReferenceDNASequence:11827364] HGNC:6309 KERA [ReferenceDNASequence:11437477] dbSNP Gene:11081 KERA [ReferenceDNASequence:11424675] CTD Gene:11081 KERA [ReferenceDNASequence:11400335] COSMIC - genes:KERA KERA [ReferenceDNASequence:11348675] BioGPS Gene:11081 KERA [ReferenceDNASequence:ensembl:ENSG00000139330] ENSEMBL:ENSG00000139330 KERA
referenceTranscript	[ReferenceRNASequence:12573642] RefSeq:NM_007035.4 KERA
schemaClass	ReferenceGeneProduct
secondaryIdentifier	KERA_HUMAN
sequenceLength	352
species	[Species:48887] Homo sapiens
stId	uniprot:O60938
url	http://purl.uniprot.org/uniprot/O60938

Referrals

(interactor)	[UndirectedInteraction:11172935] UniProt:P41743 <-> UniProt:O60938 (IntAct) [UndirectedInteraction:11160141] UniProt:Q9BQG2 <-> UniProt:O60938 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-2105019] KERA [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-2046150] N-glycan KERA [Golgi lumen] [EntityWithAccessionedSequence:R-HSA-2046230] Gal-glycan KERA [Golgi lumen] [EntityWithAccessionedSequence:R-HSA-2046261] Keratan(1)-KERA [Golgi lumen] [EntityWithAccessionedSequence:R-HSA-2046267] Keratan(2)-KERA [Golgi lumen] [EntityWithAccessionedSequence:R-HSA-2046272] Keratan(3)-KERA [Golgi lumen] [EntityWithAccessionedSequence:R-HSA-2046212] Keratan(4)-KERA [Golgi lumen] [EntityWithAccessionedSequence:R-HSA-2046290] KS(1)-KERA [Golgi lumen] [EntityWithAccessionedSequence:R-HSA-2046215] KS(2)-KERA [Golgi lumen] [EntityWithAccessionedSequence:R-HSA-2046151] KS(2)-KERA [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-2046192] KS(2)-KERA [extracellular region]
(referenceSequence)	[GroupModifiedResidue:2046176] N4-(N-acetylamino)glucosyl-L-asparagine (ChEBI:63488) at unknown position [GroupModifiedResidue:2046256] N4-(N-acetylamino)glucosyl-L-asparagine (ChEBI:63492) at unknown position [GroupModifiedResidue:2046201] N4-(N-acetylamino)glucosyl-L-asparagine (ChEBI:63494) at unknown position [GroupModifiedResidue:2046282] N4-(N-acetylamino)glucosyl-L-asparagine (ChEBI:63495) at unknown position [GroupModifiedResidue:2046242] N4-(N-acetylamino)glucosyl-L-asparagine (ChEBI:63499) at unknown position [GroupModifiedResidue:2046213] N4-(N-acetylamino)glucosyl-L-asparagine (ChEBI:63500) at unknown position [GroupModifiedResidue:2046237] N4-(N-acetylamino)glucosyl-L-asparagine (ChEBI:63522) at unknown position [GroupModifiedResidue:2046281] N4-(N-acetylamino)glucosyl-L-asparagine (ChEBI:63520) at unknown position

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