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Aliases for AEBP1 Gene

Aliases for AEBP1 Gene

  • AE Binding Protein 1 2 3 5
  • Aortic Carboxypeptidase-Like Protein 2 3 4
  • AE-Binding Protein 1 2 4
  • ACLP 3 4
  • Adipocyte Enhancer Binding Protein 1 2
  • Adipocyte Enhancer-Binding Protein 1 3

External Ids for AEBP1 Gene

Previous GeneCards Identifiers for AEBP1 Gene

  • GC07P043790
  • GC07P043850
  • GC07P043884
  • GC07P043917
  • GC07P044110
  • GC07P044143
  • GC07P044029

Summaries for AEBP1 Gene

Entrez Gene Summary for AEBP1 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]

CIViC summary for AEBP1 Gene

GeneCards Summary for AEBP1 Gene

AEBP1 (AE Binding Protein 1) is a Protein Coding gene. Diseases associated with AEBP1 include Gastroschisis. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and calmodulin binding. An important paralog of this gene is CPXM2.

UniProtKB/Swiss-Prot for AEBP1 Gene

  • May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness. Can act as a transcriptional repressor.

Additional gene information for AEBP1 Gene

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AEBP1 Gene

Genomics for AEBP1 Gene

GeneHancer (GH) Regulatory Elements for AEBP1 Gene

Promoters and enhancers for AEBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I044099 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.7 -1.3 -1302 7.3 ELF3 PKNOX1 FOXA2 ARID4B SIN3A ZBTB40 GLIS2 SCRT2 FOS CEBPB AEBP1 POLM GCK RASA4CP
GH07I044200 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.2 +97.0 97006 2 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 POLR2B ZNF766 E2F8 ZNF207 ZNF143 YKT6 AEBP1 POLM NUDCD3 CAMK2B PIR57733
GH07I043112 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 14.7 -991.1 -991149 1.7 RB1 KLF17 MZF1 SIN3A ZNF2 ZNF335 GLIS2 KLF7 EGR2 SP3 LOC105375254 HECW1 AEBP1 GLI3 ENSG00000228434 SPDYE1 POLM
GH07I044307 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.2 +203.5 203455 1.3 KLF17 SIN3A NFXL1 ZBTB40 RAD21 ZNF143 KLF13 EGR2 ZNF263 SP3 CAMK2B POLM AEBP1 NUDCD3 PIR57733
GH07I044159 Promoter/Enhancer 1 EPDnew dbSUPER 11.7 +55.0 54982 0.1 RXRA MAX HNF4A RAD21 GCK POLD2 RNA5SP230 AEBP1 POLM ENSG00000239775 PGAM2 LOC105375257 LOC105375258
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AEBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AEBP1 gene promoter:

Genomic Locations for AEBP1 Gene

Genomic Locations for AEBP1 Gene
chr7:44,104,320-44,114,565
(GRCh38/hg38)
Size:
10,246 bases
Orientation:
Plus strand
chr7:44,143,960-44,154,161
(GRCh37/hg19)

Genomic View for AEBP1 Gene

Genes around AEBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AEBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AEBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AEBP1 Gene

Proteins for AEBP1 Gene

  • Protein details for AEBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUX7-AEBP1_HUMAN
    Recommended name:
    Adipocyte enhancer-binding protein 1
    Protein Accession:
    Q8IUX7
    Secondary Accessions:
    • Q14113
    • Q59ER7
    • Q6ZSC7
    • Q7KZ79

    Protein attributes for AEBP1 Gene

    Size:
    1158 amino acids
    Molecular mass:
    130929 Da
    Quaternary structure:
    • Interacts with GNG5, NFKBIA, MAPK1, MAPK3 and PTEN. May interact with calmodulin. Binds to DNA in vitro.
    SequenceCaution:
    • Sequence=BAD92981.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AEBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AEBP1 Gene

Post-translational modifications for AEBP1 Gene

Antibody Products

No data available for DME Specific Peptides for AEBP1 Gene

Domains & Families for AEBP1 Gene

Gene Families for AEBP1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for AEBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUX7

UniProtKB/Swiss-Prot:

AEBP1_HUMAN :
  • Belongs to the peptidase M14 family.
Family:
  • Belongs to the peptidase M14 family.
genes like me logo Genes that share domains with AEBP1: view

Function for AEBP1 Gene

Molecular function for AEBP1 Gene

UniProtKB/Swiss-Prot Function:
May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness. Can act as a transcriptional repressor.

Gene Ontology (GO) - Molecular Function for AEBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 15654748
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP 15654748
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS 8920928
GO:0003714 transcription corepressor activity IEA --
genes like me logo Genes that share ontologies with AEBP1: view
genes like me logo Genes that share phenotypes with AEBP1: view

Animal Models for AEBP1 Gene

MGI Knock Outs for AEBP1:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for AEBP1 Gene

Localization for AEBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AEBP1 Gene

Isoform 1: Secreted.
Isoform 2: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AEBP1 gene
Compartment Confidence
extracellular 5
nucleus 3
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AEBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 27068509
GO:0005615 extracellular space IDA 20551380
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with AEBP1: view

Pathways & Interactions for AEBP1 Gene

SuperPathways for AEBP1 Gene

No Data Available

Interacting Proteins for AEBP1 Gene

Gene Ontology (GO) - Biological Process for AEBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 15654748
GO:0001501 skeletal system development TAS 8920928
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with AEBP1: view

No data available for Pathways by source and SIGNOR curated interactions for AEBP1 Gene

Drugs & Compounds for AEBP1 Gene

(1) Drugs for AEBP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AEBP1: view

Transcripts for AEBP1 Gene

Unigene Clusters for AEBP1 Gene

AE binding protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AEBP1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e ^ 13a · 13b · 13c ^ 14a ·
SP1: - - -
SP2: - - - -
SP3:
SP4:
SP5: - - - - - -
SP6: -
SP7: - - -
SP8: - - -
SP9: - - - - -
SP10:
SP11:
SP12: - - -
SP13: -
SP14:
SP15:
SP16: -
SP17:

ExUns: 14b ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23
SP1: - - -
SP2:
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for AEBP1 Gene

GeneLoc Exon Structure for
AEBP1
ECgene alternative splicing isoforms for
AEBP1

Expression for AEBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AEBP1 Gene

mRNA differential expression in normal tissues according to GTEx for AEBP1 Gene

This gene is overexpressed in Artery - Aorta (x8.7), Artery - Coronary (x6.6), and Artery - Tibial (x5.5).

Protein differential expression in normal tissues from HIPED for AEBP1 Gene

This gene is overexpressed in Amniocyte (26.8), Breast (9.1), and Prostate (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AEBP1 Gene



Protein tissue co-expression partners for AEBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AEBP1 Gene:

AEBP1

SOURCE GeneReport for Unigene cluster for AEBP1 Gene:

Hs.439463

mRNA Expression by UniProt/SwissProt for AEBP1 Gene:

Q8IUX7-AEBP1_HUMAN
Tissue specificity: Expressed in osteoblast and visceral fat.

Evidence on tissue expression from TISSUES for AEBP1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Muscle(4.4)
  • Bone(4)
  • Gall bladder(2.1)
genes like me logo Genes that share expression patterns with AEBP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for AEBP1 Gene

Orthologs for AEBP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AEBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AEBP1 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia AEBP1 33 34
  • 89.48 (n)
cow
(Bos Taurus)
Mammalia AEBP1 33 34
  • 84.79 (n)
rat
(Rattus norvegicus)
Mammalia Aebp1 33
  • 83.41 (n)
mouse
(Mus musculus)
Mammalia Aebp1 33 16 34
  • 83.36 (n)
oppossum
(Monodelphis domestica)
Mammalia AEBP1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AEBP1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves AEBP1 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AEBP1 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aebp1 33
  • 62.44 (n)
zebrafish
(Danio rerio)
Actinopterygii aebp1 34
  • 49 (a)
OneToMany
AEBP1 (1 of 2) 34
  • 37 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2504 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToMany
Species where no ortholog for AEBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AEBP1 Gene

ENSEMBL:
Gene Tree for AEBP1 (if available)
TreeFam:
Gene Tree for AEBP1 (if available)

Paralogs for AEBP1 Gene

Paralogs for AEBP1 Gene

(4) SIMAP similar genes for AEBP1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with AEBP1: view

Variants for AEBP1 Gene

Sequence variations from dbSNP and Humsavar for AEBP1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000097122 -- 44,115,028(+) C/T downstream_transcript_variant
rs1000193187 -- 44,102,946(+) G/A upstream_transcript_variant
rs1000204439 -- 44,103,265(+) G/T upstream_transcript_variant
rs1000323560 -- 44,108,688(+) C/T intron_variant
rs1000530722 -- 44,104,399(+) C/G 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for AEBP1 Gene

Variant ID Type Subtype PubMed ID
dgv11297n54 CNV loss 21841781
nsv428165 CNV gain 18775914
nsv470210 CNV loss 18288195
nsv606746 CNV loss 21841781
nsv606747 CNV gain 21841781
nsv606749 CNV loss 21841781
nsv8082 CNV gain 18304495
nsv830983 CNV loss 17160897

Variation tolerance for AEBP1 Gene

Residual Variation Intolerance Score: 22.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.50; 92.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AEBP1 Gene

Human Gene Mutation Database (HGMD)
AEBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AEBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AEBP1 Gene

Disorders for AEBP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AEBP1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
gastroschisis
  • congenital fissure of the abdominal cavity
- elite association - COSMIC cancer census association via MalaCards
Search AEBP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AEBP1

genes like me logo Genes that share disorders with AEBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AEBP1 Gene

Publications for AEBP1 Gene

  1. A cDNA cloning of human AEBP1 from primary cultured osteoblasts and its expression in a differentiating osteoblastic cell line. (PMID: 8920928) Ohno I … Okubo K (Biochemical and biophysical research communications 1996) 2 3 4 22 58
  2. Aortic carboxypeptidase-like protein, a novel protein with discoidin and carboxypeptidase-like domains, is up-regulated during vascular smooth muscle cell differentiation. (PMID: 9624159) Layne MD … Lee ME (The Journal of biological chemistry 1998) 3 4 22 58
  3. Regulation of IkappaBalpha function and NF-kappaB signaling: AEBP1 is a novel proinflammatory mediator in macrophages. (PMID: 20396415) Majdalawieh A … Ro HS (Mediators of inflammation 2010) 3 22 58
  4. PPARgamma1 and LXRalpha face a new regulator of macrophage cholesterol homeostasis and inflammatory responsiveness, AEBP1. (PMID: 20419060) Majdalawieh A … Ro HS (Nuclear receptor signaling 2010) 3 22 58
  5. Aortic carboxypeptidase-like protein is expressed in fibrotic human lung and its absence protects against bleomycin-induced lung fibrosis. (PMID: 19179605) Schissel SL … Layne MD (The American journal of pathology 2009) 3 22 58

Products for AEBP1 Gene

Sources for AEBP1 Gene

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