ACAN

Protein identityUniProt · HPA

UniProt accession

P16112

Gene

ACAN

Ensembl

ENSG00000157766

Chromosome

15

Canonical length

2530 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

2530 residues, UniProt reviewed canonical sequence.

>P16112|ACAN
     1  MTTLLWVFVT LRVITAAVTV ETSDHDNSLS VSIPQPSPLR VLLGTSLTIP CYFIDPMHPV
    61  TTAPSTAPLA PRIKWSRVSK EKEVVLLVAT EGRVRVNSAY QDKVSLPNYP AIPSDATLEV
   121  QSLRSNDSGV YRCEVMHGIE DSEATLEVVV KGIVFHYRAI STRYTLDFDR AQRACLQNSA
   181  IIATPEQLQA AYEDGFHQCD AGWLADQTVR YPIHTPREGC YGDKDEFPGV RTYGIRDTNE
   241  TYDVYCFAEE MEGEVFYATS PEKFTFQEAA NECRRLGARL ATTGQLYLAW QAGMDMCSAG
   301  WLADRSVRYP ISKARPNCGG NLLGVRTVYV HANQTGYPDP SSRYDAICYT GEDFVDIPEN
   361  FFGVGGEEDI TVQTVTWPDM ELPLPRNITE GEARGSVILT VKPIFEVSPS PLEPEEPFTF
   421  APEIGATAFA EVENETGEAT RPWGFPTPGL GPATAFTSED LVVQVTAVPG QPHLPGGVVF
   481  HYRPGPTRYS LTFEEAQQAC LRTGAVIASP EQLQAAYEAG YEQCDAGWLR DQTVRYPIVS
   541  PRTPCVGDKD SSPGVRTYGV RPSTETYDVY CFVDRLEGEV FFATRLEQFT FQEALEFCES
   601  HNATLATTGQ LYAAWSRGLD KCYAGWLADG SLRYPIVTPR PACGGDKPGV RTVYLYPNQT
   661  GLPDPLSRHH AFCFRGISAV PSPGEEEGGT PTSPSGVEEW IVTQVVPGVA AVPVEEETTA
   721  VPSGETTAIL EFTTEPENQT EWEPAYTPVG TSPLPGILPT WPPTGAATEE STEGPSATEV
   781  PSASEEPSPS EVPFPSEEPS PSEEPFPSVR PFPSVELFPS EEPFPSKEPS PSEEPSASEE
   841  PYTPSPPVPS WTELPSSGEE SGAPDVSGDF TGSGDVSGHL DFSGQLSGDR ASGLPSGDLD
   901  SSGLTSTVGS GLPVESGLPS GDEERIEWPS TPTVGELPSG AEILEGSASG VGDLSGLPSG
   961  EVLETSASGV GDLSGLPSGE VLETTAPGVE DISGLPSGEV LETTAPGVED ISGLPSGEVL
  1021  ETTAPGVEDI SGLPSGEVLE TTAPGVEDIS GLPSGEVLET TAPGVEDISG LPSGEVLETT
  1081  APGVEDISGL PSGEVLETAA PGVEDISGLP SGEVLETAAP GVEDISGLPS GEVLETAAPG
  1141  VEDISGLPSG EVLETAAPGV EDISGLPSGE VLETAAPGVE DISGLPSGEV LETAAPGVED
  1201  ISGLPSGEVL ETAAPGVEDI SGLPSGEVLE TAAPGVEDIS GLPSGEVLET AAPGVEDISG
  1261  LPSGEVLETA APGVEDISGL PSGEVLETAA PGVEDISGLP SGEVLETAAP GVEDISGLPS
  1321  GEVLETAAPG VEDISGLPSG EVLETAAPGV EDISGLPSGE VLETAAPGVE DISGLPSGEV
  1381  LETAAPGVED ISGLPSGEVL ETTAPGVEEI SGLPSGEVLE TTAPGVDEIS GLPSGEVLET
  1441  TAPGVEEISG LPSGEVLETS TSAVGDLSGL PSGGEVLEIS VSGVEDISGL PSGEVVETSA
  1501  SGIEDVSELP SGEGLETSAS GVEDLSRLPS GEEVLEISAS GFGDLSGLPS GGEGLETSAS
  1561  EVGTDLSGLP SGREGLETSA SGAEDLSGLP SGKEDLVGSA SGDLDLGKLP SGTLGSGQAP
  1621  ETSGLPSGFS GEYSGVDLGS GPPSGLPDFS GLPSGFPTVS LVDSTLVEVV TASTASELEG
  1681  RGTIGISGAG EISGLPSSEL DISGRASGLP SGTELSGQAS GSPDVSGEIP GLFGVSGQPS
  1741  GFPDTSGETS GVTELSGLSS GQPGISGEAS GVLYGTSQPF GITDLSGETS GVPDLSGQPS
  1801  GLPGFSGATS GVPDLVSGTT SGSGESSGIT FVDTSLVEVA PTTFKEEEGL GSVELSGLPS
  1861  GEADLSGKSG MVDVSGQFSG TVDSSGFTSQ TPEFSGLPSG IAEVSGESSR AEIGSSLPSG
  1921  AYYGSGTPSS FPTVSLVDRT LVESVTQAPT AQEAGEGPSG ILELSGAHSG APDMSGEHSG
  1981  FLDLSGLQSG LIEPSGEPPG TPYFSGDFAS TTNVSGESSV AMGTSGEASG LPEVTLITSE
  2041  FVEGVTEPTI SQELGQRPPV THTPQLFESS GKVSTAGDIS GATPVLPGSG VEVSSVPESS
  2101  SETSAYPEAG FGASAAPEAS REDSGSPDLS ETTSAFHEAN LERSSGLGVS GSTLTFQEGE
  2161  ASAAPEVSGE STTTSDVGTE APGLPSATPT ASGDRTEISG DLSGHTSQLG VVISTSIPES
  2221  EWTQQTQRPA ETHLEIESSS LLYSGEETHT VETATSPTDA SIPASPEWKR ESESTAAAPA
  2281  RSCAEEPCGA GTCKETEGHV ICLCPPGYTG EHCNIDQEVC EEGWNKYQGH CYRHFPDRET
  2341  WVDAERRCRE QQSHLSSIVT PEEQEFVNNN AQDYQWIGLN DRTIEGDFRW SDGHPMQFEN
  2401  WRPNQPDNFF AAGEDCVVMI WHEKGEWNDV PCNYHLPFTC KKGTVACGEP PVVEHARTFG
  2461  QKKDRYEINS LVRYQCTEGF VQRHMPTIRC QPSGHWEEPQ ITCTDPTTYK RRLQKRSSRH
  2521  PRRSRPSTAH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACAN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.47

Highest tissue expression

36 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACAN.

Disease | AllUniProt

Conditions ACAN is implicated in, by any mechanism.

• Spondyloepiphyseal dysplasia type Kimberley (SEDK) MIM:608361
• Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG) MIM:612813
• Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) MIM:165800

Disease | GeneticClinVar

210 pathogenic / likely-pathogenic of 1,724 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
• Inborn genetic diseases
• Spondyloepiphyseal dysplasia, Kimberley type
• Osteochondritis dissecans
• Spondyloepimetaphyseal dysplasia, aggrecan type

Disease | ImmuneIEDB

Conditions an epitope on ACAN was assayed in.

• rheumatoid arthritis B and T cell
• ankylosing spondylitis T cell
• systemic juvenile rheumatoid arthritis T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.18

gnomAD pLI

1

gnomAD missense Z

0.21

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell adhesion
• central nervous system development
• proteolysis
• skeletal system development

Molecular functions

• carbohydrate binding
• extracellular matrix structural constituent
• hyaluronic acid binding
• metal ion binding

Cellular components

• extracellular matrix
• extracellular region
• extracellular space
• Golgi lumen
• lysosomal lumen
• perineuronal net
• synapse

Protein domainsUniProt · Pfam · InterPro

• Sushi/SCR/CCP domain
• Link domain
• EGF-like domain
• C-type lectin-like
• Immunoglobulin/major histocompatibility complex, conserved site
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Immunoglobulin V-set domain
• Immunoglobulin-like fold
• C-type lectin-like/link domain superfamily
• C-type lectin fold
• C-type lectin, conserved site
• Aggrecan/versican, C-type lectin-like domain
• Sushi/SCR/CCP superfamily
• Immunoglobulin-like domain superfamily
• Hyaluronan-binding Proteoglycan
• Lectin C-type domain
• Sushi repeat (SCR repeat)
• Extracellular link domain
• Immunoglobulin V-set domain

KeywordsUniProt

• Calcium
• Disulfide bond
• Dwarfism
• EGF-like domain
• Extracellular matrix
• Glycoprotein
• Immunoglobulin domain
• Lectin
• Metal-binding
• Proteoglycan
• Repeat
• Secreted
• Signal
• Sushi

InteractionsUniProt · HPA

Protein binding partners of ACAN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COMP
• FBLN1
• TNR