AEBP1 (AE binding protein 1)

2014-08-01  

Identity

HGNC
LOCATION
7p13
LOCUSID
ALIAS
ACLP
FUSION GENES

Other Information

Locus ID:

NCBI: 165
MIM: 602981
HGNC: 303
Ensembl: ENSG00000106624

Variants:

dbSNP: 165
ClinVar: 165
TCGA: ENSG00000106624
COSMIC: AEBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106624ENST00000223357Q8IUX7
ENSG00000106624ENST00000413907H7C391
ENSG00000106624ENST00000431035H7C4B5
ENSG00000106624ENST00000434445H7C0W8
ENSG00000106624ENST00000449162C9JLQ8
ENSG00000106624ENST00000450684Q8IUX7
ENSG00000106624ENST00000453052H7C1J5
ENSG00000106624ENST00000455443H7C3D7

Expression (GTEx)

0
500
1000
1500
2000
2500

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
204190602010PPARgamma1 and LXRalpha face a new regulator of macrophage cholesterol homeostasis and inflammatory responsiveness, AEBP1.22
114386792001Impaired abdominal wall development and deficient wound healing in mice lacking aortic carboxypeptidase-like protein.19
227233092012Identification of genomic targets of transcription factor AEBP1 and its role in survival of glioma cells.17
243441322014Aortic carboxypeptidase-like protein (ACLP) enhances lung myofibroblast differentiation through transforming growth factor β receptor-dependent and -independent pathways.16
191796052009Aortic carboxypeptidase-like protein is expressed in fibrotic human lung and its absence protects against bleomycin-induced lung fibrosis.15
296063022018Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.13
163071712005The role of AEBP1 in sex-specific diet-induced obesity.12
300975862018AEBP1 promotes epithelial-mesenchymal transition of gastric cancer cells by activating the NF-κB pathway and predicts poor outcome of the patients.9
279970512018Association of adipocyte enhancer-binding protein 1 with Alzheimer's disease pathology in human hippocampi.7
306687082019Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.7

Citation

Dessen P

AEBP1 (AE binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54109/aebp1