CleftGeneDB-Search

Gene: Acan

Basic information

Tag	Content
Uniprot ID	Q61282; E9QLS9; Q64021;
Entrez ID	11595
Genbank protein ID	AAB32160.1; AAC37670.1;
Genbank nucleotide ID	NM_007424.2
Ensembl protein ID	ENSMUSP00000032835
Ensembl nucleotide ID	ENSMUSG00000030607
Gene name	Aggrecan core protein
Gene symbol	Acan
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	632744; 7920633; 10594233; 25807483;
Functional description	This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region. May play a regulatory role in the matrix assembly of the cartilage.
Sequence	MTTLLLVFVT LRVIAAVISE EVPDHDNSLS VSIPQPSPLK VLLGSSLTIP CYFIDPMHPV 60 TTAPSTAPLT PRIKWSRVSK EKEVVLLVAT EGQVRVNSIY QDKVSLPNYP AIPSDATLEI 120 QNLRSNDSGI YRCEVMHGIE DSEATLEVIV KGIVFHYRAI STRYTLDFDR AQRACLQNSA 180 IIATPEQLQA AYEDGFHQCD AGWLADQTVR YPIHTPREGC YGDKDEFPGV RTYGIRDTNE 240 TYDVYCFAEE MEGEVFYATS PEKFTFQEAA NECRRLGARL ATTGQLYLAW QGGMDMCSAG 300 WLADRSVRYP ISKARPNCGG NLLGVRTVYL HANQTGYPDP SSRYDAICYT GEDFVDIPEN 360 FFGVGGEDDI TIQTVTWPDL ELPLPRNVTE GEALGSVILT AKPIFDLSPT ISEPGEALTL 420 APEVGSTAFP EAEERTGEAT RPWGFPAEVT RGPDSATAFA SEDLVVRVTI SPGAAEVPGQ 480 PRLPGGVVFH YRPGSTRYSL TFEEAQQACM HTGAVIASPE QLQAAYEAGY EQCDAGWLQD 540 QTVRYPIVSP RTPCVGDKDS SPGVRTYGVR PSSETYDVYC YVDKLEGEVF FATRLEQFTF 600 QEARAFCAAQ NATLASTGQL YAAWSQGLDK CYAGWLADGT LRYPIITPRP ACGGDKPGVR 660 TVYLYPNQTG LPDPLSKHHA FCFRGVSVAP SPGEEGGSTP TSPSDIEDWI VTQVGPGVDA 720 VPLEPKTTEV PYFTTEPRKQ TEWEPAYTPV GTSPQPGIPP TWLPTLPAAE EHTESPSASE 780 EPSASAVPST SEEPYTSSFA VPSMTELPGS GEASGAPDLS GDFTGSGDAS GRLDSSGQPS 840 GGIESGLPSG DLDSSGLSPT VSSGLPVESG SASGDGEVPW SHTPTVGRLP SGGESPEGSA 900 SASGTGDLSG LPSGGEITET STSGAEETSG LPSGGDGLET STSGVDDVSG IPTGREGLET 960 SASGVEDLSG LPSGEEGSET STSGIEDISV LPTGGESLET SASGVGDLSG LPSGGESLET 1020 SASGAEDVTQ LPTERGGLET SASGVEDITV LPTGRESLET SASGVEDVSG LPSGREGLET 1080 SASGIEDISV FPTEAEGLDT SASGGYVSGI PSGGDGTETS ASGVEDVSGL PSGGEGLETS 1140 ASGVEDLGPS TRDSLETSAS GVDVTGFPSG RGDPETSVSG VGDDFSGLPS GKEGLETSAS 1200 GAEDLSGLPS GKEDLVGSAS GALDFGKLPP GTLGSGQTPE VNGFPSGFSG EYSGADIGSG 1260 PSSGLPDFSG LPSGFPTVSL VDSTLVEVIT ATTSSELEGR GTIGISGSGE VSGLPLGELD 1320 SSADISGLPS GTELSGQASG SPDSSGETSG FFDVSGQPFG SSGVSEETSG IPEISGQPSG 1380 TPDTTATSGV TELNELSSGQ PDVSGDGSGI LFGSGQSSGI TSVSGETSGI SDLSGQPSGF 1440 PVFSGTATRT PDLASGTISG SGESSGITFV DTSFVEVTPT TFREEEGLGS VELSGFPSGE 1500 TELSGTSGTV DVSEQSSGAI DSSGLTSPTP EFSGLPSGVA EVSGEFSGVE TGSSLPSGAF 1560 DGSGLVSGFP TVSLVDRTLV ESITQAPTAQ EAGEGPSGIL EFSGAHSGTP DISGELSGSL 1620 DLSTLQSGQM ETSTETPSSP YFSGDFSSTT DVSGESIAAT TGSGESSGLP EVTLNTSELV 1680 EGVTEPTVSQ ELGHGPSMTY TPRLFEASGD ASASGDLGGA VTNFPGSGIE ASVPEASSDL 1740 SAYPEAGVGV SAAPEASSKL SEFPDLHGIT SAFHETDLEM TTPSTEVNSN PWTFQEGTRE 1800 GSAAPEVSGE SSTTSDIDTG TSGVPSATPM ASGDRTEISG EWSDHTSEVN VAISSTITES 1860 EWAQPTRYPT ETLQEIESPN PSYSGEETQT AETTMSLTDA PTLSSSEGSG ETESTVADQE 1920 QCEEGWTKFQ GHCYRHFHDR ETWVDAERRC REQQSHLSSI VTPEEQEFVN KNAQDYQWIG 1980 LNDRTIEGDF RWSDGHSLQF EKWRPNQPDN FFATGEDCVV MIWHERGEWN DVPCNYQLPF 2040 TCKKGTVACG DPPVVEHART LGQKKDRYEI SSLVRYQCTE GFVQRHVPTI RCQPSGHWEE 2100 PRITCTDPNT YKHRLQKRSM RPTRRSRPSM AH 2132

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ACAN		F1N368		Bos taurus	Prediction	More>>
1:1 ortholog	ACAN	403828	A0A5F4DFW2		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ACAN		A0A452FGP3		Capra hircus	Prediction	More>>
1:1 ortholog	ACAN	176	P16112		Homo sapiens	Prediction	More>>
1:1 ortholog	Acan	11595	Q61282	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ACAN		A0A2I3SPH2		Pan troglodytes	Prediction	More>>
1:1 ortholog	ACAN		A0A287BRK5		Sus scrofa	Prediction	More>>
1:1 ortholog	ACAN	100009079	G1U677		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Acan		D4A7Y1		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs4226711	p.Phe459Ser	missense variant	-	NC_000073.6:g.79091263T>C	UniProt
rs4226710	p.Arg482His	missense variant	-	NC_000073.6:g.79091332G>A	UniProt
rs217178391	p.His511Tyr	missense variant	-	NC_000073.6:g.79092387C>T	UniProt
rs36705409	p.Val515Ile	missense variant	-	NC_000073.6:g.79092399G>A	UniProt
rs230646548	p.Glu596Lys	missense variant	-	NC_000073.6:g.79094008G>A	UniProt
rs37808189	p.Ala608Val	missense variant	-	NC_000073.6:g.79094045C>T	UniProt
rs32109202	p.Gly696Glu	missense variant	-	NC_000073.6:g.79096700G>A	UniProt
rs262365125	p.Ser698Arg	missense variant	-	NC_000073.6:g.79096707T>A	UniProt
rs224198134	p.Lys726Glu	missense variant	-	NC_000073.6:g.79096789A>G	UniProt
rs235963006	p.Ser777Pro	missense variant	-	NC_000073.6:g.79097811T>C	UniProt
rs263333162	p.His882Arg	missense variant	-	NC_000073.6:g.79098127A>G	UniProt
rs248399811	p.Glu897Lys	missense variant	-	NC_000073.6:g.79098171G>A	UniProt
rs261577372	p.Asp907Asn	missense variant	-	NC_000073.6:g.79098201G>A	UniProt
rs224543094	p.Gly1105Glu	missense variant	-	NC_000073.6:g.79098796G>A	UniProt
rs37527706	p.Glu1135Asp	missense variant	-	NC_000073.6:g.79098887G>C	UniProt
rs243220994	p.Thr1139Ile	missense variant	-	NC_000073.6:g.79098898C>T	UniProt
rs36710345	p.Pro1149Leu	missense variant	-	NC_000073.6:g.79098928C>T	UniProt
rs255978889	p.Thr1151Ala	missense variant	-	NC_000073.6:g.79098933A>G	UniProt
rs215585746	p.Val1178Gly	missense variant	-	NC_000073.6:g.79099015T>G	UniProt
rs32400885	p.Val1241Ala	missense variant	-	NC_000073.6:g.79099204T>C	UniProt
rs31327907	p.Asn1242Ser	missense variant	-	NC_000073.6:g.79099207A>G	UniProt
rs229931309	p.Ile1257Thr	missense variant	-	NC_000073.6:g.79099252T>C	UniProt
rs37180682	p.Ser1308Thr	missense variant	-	NC_000073.6:g.79099404T>A	UniProt
rs37664302	p.Ala1323Val	missense variant	-	NC_000073.6:g.79099450C>T	UniProt
rs32439390	p.Ser1344Ile	missense variant	-	NC_000073.6:g.79099513G>T	UniProt
rs38835844	p.Ser1345Arg	missense variant	-	NC_000073.6:g.79099517T>A	UniProt
rs261453014	p.Asp1353Tyr	missense variant	-	NC_000073.6:g.79099539G>T	UniProt
rs224576375	p.Val1364Ile	missense variant	-	NC_000073.6:g.79099572G>A	UniProt
rs238445469	p.Glu1367Gly	missense variant	-	NC_000073.6:g.79099582A>G	UniProt
rs261793823	p.Thr1391Ser	missense variant	-	NC_000073.6:g.79099653A>T	UniProt
rs32085027	p.Glu1514Gly	missense variant	-	NC_000073.6:g.79100023A>G	UniProt
rs46312921	p.Ala1559Val	missense variant	-	NC_000073.6:g.79100158C>T	UniProt
rs255575237	p.Thr1632Pro	missense variant	-	NC_000073.6:g.79100376A>C	UniProt
rs218393036	p.Gly1662Ala	missense variant	-	NC_000073.6:g.79100467G>C	UniProt
rs49012578	p.Asn1675Ile	missense variant	-	NC_000073.6:g.79100506A>T	UniProt
rs36891928	p.Tyr1700His	missense variant	-	NC_000073.6:g.79100580T>C	UniProt
rs47696513	p.Arg1703Gln	missense variant	-	NC_000073.6:g.79100590G>A	UniProt
rs48938013	p.Ala1711Thr	missense variant	-	NC_000073.6:g.79100613G>A	UniProt
rs48571987	p.Ile1729Val	missense variant	-	NC_000073.6:g.79100667A>G	UniProt
rs223364862	p.Gln1795Pro	missense variant	-	NC_000073.6:g.79100866A>C	UniProt
rs45904480	p.Asp1816Asn	missense variant	-	NC_000073.6:g.79100928G>A	UniProt
rs36349467	p.Asn1850Tyr	missense variant	-	NC_000073.6:g.79101030A>T	UniProt
rs36376581	p.Tyr1868His	missense variant	-	NC_000073.6:g.79101084T>C	UniProt
rs32310727	p.His1938Pro	missense variant	-	NC_000073.6:g.79111354A>C	UniProt
rs265865197	p.Arg1949Gln	missense variant	-	NC_000073.6:g.79111387G>A	UniProt
rs1135266723	p.Val2074Met	missense variant	-	NC_000073.6:g.79113735G>A	UniProt
rs261187312	p.Glu2100Asp	missense variant	-	NC_000073.6:g.79113815G>T	UniProt
rs38286487	p.Arg2102Gln	missense variant	-	NC_000073.6:g.79113820G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005509	calcium ion binding	ISO
GO:0005515	protein binding	IPI
GO:0005540	hyaluronic acid binding	IEA
GO:0030246	carbohydrate binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	IBA
GO:0001502	cartilage condensation	IMP
GO:0002063	chondrocyte development	IMP
GO:0007155	cell adhesion	IEA
GO:0007417	central nervous system development	IBA
GO:0007507	heart development	IMP
GO:0030166	proteoglycan biosynthetic process	IMP
GO:0030199	collagen fibril organization	IMP
GO:0030336	negative regulation of cell migration	ISO

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005604	basement membrane	IDA
GO:0005615	extracellular space	ISO
GO:0005615	extracellular space	HDA
GO:0031012	extracellular matrix	IDA
GO:0031012	extracellular matrix	IBA
GO:0043005	neuron projection	ISO
GO:0043025	neuronal cell body	ISO
GO:0072534	perineuronal net	ISO
GO:0098966	perisynaptic extracellular matrix	IDA
GO:0098978	glutamatergic synapse	IDA
GO:0098982	GABA-ergic synapse	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-1430728	Metabolism	IEA
R-MMU-1474228	Degradation of the extracellular matrix	IEA
R-MMU-1474244	Extracellular matrix organization	IEA
R-MMU-1630316	Glycosaminoglycan metabolism	IEA
R-MMU-1638074	Keratan sulfate/keratin metabolism	IEA
R-MMU-2022854	Keratan sulfate biosynthesis	IEA
R-MMU-2022857	Keratan sulfate degradation	IEA
R-MMU-3000178	ECM proteoglycans	IEA
R-MMU-71387	Metabolism of carbohydrates	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0106	Calcium
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0393	Immunoglobulin domain
KW-0430	Lectin
KW-0479	Metal-binding
KW-0654	Proteoglycan
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal
KW-0768	Sushi

Interpro

InterPro ID	InterPro Term
IPR001304	C-type_lectin-like
IPR016186	C-type_lectin-like/link_sf
IPR018378	C-type_lectin_CS
IPR033987	CSPG_CTLD
IPR016187	CTDL_fold
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR003006	Ig/MHC_CS
IPR003599	Ig_sub
IPR013106	Ig_V-set
IPR000538	Link_dom
IPR035976	Sushi/SCR/CCP_sf
IPR000436	Sushi_SCR_CCP_dom

PROSITE

PROSITE ID	PROSITE Term
PS00615	C_TYPE_LECTIN_1
PS50041	C_TYPE_LECTIN_2
PS50835	IG_LIKE
PS00290	IG_MHC
PS01241	LINK_1
PS50963	LINK_2
PS50923	SUSHI

Pfam

Pfam ID	Pfam Term
PF00059	Lectin_C
PF00084	Sushi
PF07686	V-set
PF00193	Xlink

Gene: Acan

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction