AEBP1

Protein identityUniProt · HPA

UniProt accession

Q8IUX7

Gene

AEBP1

Ensembl

ENSG00000106624

Chromosome

7

Canonical length

1158 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins

Subcellular location

Nucleoplasm,Vesicles,Cytosol

Secretome location

Secreted - unknown location

OverviewNCBI Gene

This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

1158 residues, UniProt reviewed canonical sequence.

>Q8IUX7|AEBP1
     1  MAAVRGAPLL SCLLALLALC PGGRPQTVLT DDEIEEFLEG FLSELEPEPR EDDVEAPPPP
    61  EPTPRVRKAQ AGGKPGKRPG TAAEVPPEKT KDKGKKGKKD KGPKVPKESL EGSPRPPKKG
   121  KEKPPKATKK PKEKPPKATK KPKEKPPKAT KKPKEKPPKA TKKPPSGKRP PILAPSETLE
   181  WPLPPPPSPG PEELPQEGGA PLSNNWQNPG EETHVEAREH QPEPEEETEQ PTLDYNDQIE
   241  REDYEDFEYI RRQKQPRPPP SRRRRPERVW PEPPEEKAPA PAPEERIEPP VKPLLPPLPP
   301  DYGDGYVIPN YDDMDYYFGP PPPQKPDAER QTDEEKEELK KPKKEDSSPK EETDKWAVEK
   361  GKDHKEPRKG EELEEEWTPT EKVKCPPIGM ESHRIEDNQI RASSMLRHGL GAQRGRLNMQ
   421  TGATEDDYYD GAWCAEDDAR TQWIEVDTRR TTRFTGVITQ GRDSSIHDDF VTTFFVGFSN
   481  DSQTWVMYTN GYEEMTFHGN VDKDTPVLSE LPEPVVARFI RIYPLTWNGS LCMRLEVLGC
   541  SVAPVYSYYA QNEVVATDDL DFRHHSYKDM RQLMKVVNEE CPTITRTYSL GKSSRGLKIY
   601  AMEISDNPGE HELGEPEFRY TAGIHGNEVL GRELLLLLMQ YLCREYRDGN PRVRSLVQDT
   661  RIHLVPSLNP DGYEVAAQMG SEFGNWALGL WTEEGFDIFE DFPDLNSVLW GAEERKWVPY
   721  RVPNNNLPIP ERYLSPDATV STEVRAIIAW MEKNPFVLGA NLNGGERLVS YPYDMARTPT
   781  QEQLLAAAMA AARGEDEDEV SEAQETPDHA IFRWLAISFA SAHLTLTEPY RGGCQAQDYT
   841  GGMGIVNGAK WNPRTGTIND FSYLHTNCLE LSFYLGCDKF PHESELPREW ENNKEALLTF
   901  MEQVHRGIKG VVTDEQGIPI ANATISVSGI NHGVKTASGG DYWRILNPGE YRVTAHAEGY
   961  TPSAKTCNVD YDIGATQCNF ILARSNWKRI REIMAMNGNR PIPHIDPSRP MTPQQRRLQQ
  1021  RRLQHRLRLR AQMRLRRLNA TTTLGPHTVP PTLPPAPATT LSTTIEPWGL IPPTTAGWEE
  1081  SETETYTEVV TEFGTEVEPE FGTKVEPEFE TQLEPEFETQ LEPEFEEEEE EEKEEEIATG
  1141  QAFPFTTVET YTVNFGDF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AEBP1 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)

0.45

Highest tissue expression

1,145 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AEBP1.

Disease | AllUniProt

Conditions AEBP1 is implicated in, by any mechanism.

• Ehlers-Danlos syndrome, classic-like, 2 (EDSCLL2) MIM:618000

Disease | GeneticClinVar

46 pathogenic / likely-pathogenic of 809 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ehlers-Danlos syndrome, classic-like, 2
• Autism spectrum disorder
• AEBP1-related disorder

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)

0.64

gnomAD pLI

0

gnomAD missense Z

1

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of transcription by RNA polymerase II
• proteolysis
• regulation of collagen fibril organization
• regulation of DNA-templated transcription

Molecular functions

• calmodulin binding
• carboxypeptidase activity
• collagen binding
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• zinc ion binding

Cellular components

• cytoplasm
• extracellular exosome
• extracellular matrix
• extracellular region
• extracellular space
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Coagulation factor 5/8, C-terminal domain
• Peptidase M14, carboxypeptidase A
• Carboxypeptidase-like, regulatory domain superfamily
• Galactose-binding-like domain superfamily
• Peptidase M14 domain-containing protein
• Zinc carboxypeptidases, zinc-binding region 1
• Zinc carboxypeptidase
• F5/8 type C domain
• Carboxypeptidase regulatory-like domain

KeywordsUniProt

• Calmodulin-binding
• Cytoplasm
• DNA-binding
• Ehlers-Danlos syndrome
• Glycoprotein
• Nucleus
• Repressor
• Secreted
• Signal
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of AEBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GNG5
• III
• MAPK1
• MAPK3
• NFKBIA
• PTEN