AEBP1 (AE binding protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 165
Gene name AE binding protein 1
Gene symbol AEBP1
Synonyms (NCBI Gene)
ACLP
Chromosome 7
Chromosome location 7p13
Summary 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 wo
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs777647845 C>A Likely-pathogenic Coding sequence variant, stop gained
rs1443187318 ->A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
47
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (47)
miRTarBase ID miRNA Experiments Reference
MIRT770402 hsa-miR-122 CLIP-seq
MIRT770403 hsa-miR-1262 CLIP-seq
MIRT770404 hsa-miR-134 CLIP-seq
MIRT770405 hsa-miR-214 CLIP-seq
MIRT770406 hsa-miR-302a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 15654748
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 15654748
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602981 303 ENSG00000106624
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IUX7
Protein name Adipocyte enhancer-binding protein 1 (AE-binding protein 1) (Aortic carboxypeptidase-like protein)
Protein function [Isoform 1]: As a positive regulator of collagen fibrillogenesis, it is probably involved in the organization and remodeling of the extracellular matrix. ; [Isoform 2]: May positively regulate MAP-kinase a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00754 F5_F8_type_C 399 → 537 F5/8 type C domain Domain
PF00246 Peptidase_M14 570 → 896 Zinc carboxypeptidase Domain
PF13620 CarboxypepD_reg 907 → 982 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in osteoblast and visceral fat. {ECO:0000269|PubMed:8920928}.
Sequence 
MAAVRGAPLLSCLLALLALCPGGRPQTVLTDDEIEEFLEGFLSELEPEPREDDVEAPPPP
EPTPRVRKAQAGGKPGKRPGTAAEVPPEKTKDKGKKGKKDKGPKVPKESLEGSPRPPKKG
KEKPPKATKKPKEKPPKATKKPKEKPPKATKKPKEKPPKATKKPPSGKRPPILAPSETLE
WPLPPPPSPGPEELPQEGGAPLSNNWQNPGEETHVEAREHQPEPEEETEQPTLDYNDQIE
REDYEDFEYIRRQKQPRPPPSRRRRPERVWPEPPEEKAPAPAPEERIEPPVKPLLPPLPP
DYGDGYVIPNYDDMDYYFGPPPPQKPDAERQTDEEKEELKKPKKEDSSPKEETDKWAVEK
GKDHKEPRKGEELEEEWTPTEKVKCPPIGMESHRIEDNQIRASSMLRHGLGAQRGRLNMQ
TGATEDDYYDGAWCAEDDARTQWIEVDTRRTTRFTGVITQGRDSSIHDDFVTTFFVGFSN
DSQTWVMYTNGYEEMTFHGNVDKDTPVLSELPEPVVARFIRIYPLTWNGSLCMRLEVLGC
SVAPVYSYYAQNEVVATDDLDFRHHSYKDMRQLMKVVNEECPTITRTYSLGKSSRGLKIY
AMEISDNPGEHELGEPEFRYTAGIHGNEVLGRELLLLLMQYLCREYRDGNPRVRSLVQDT
RIHLVPSLNPDGYEVAAQMGSEFGNWALGLWTEEGFDIFEDFPDLNSVLWGAEERKWVPY
RVPNNNLPIPERYLSPDATVSTEVRAIIAWMEKNPFVLGANLNGGERLVSYPYDMARTPT
QEQLLAAAMAAARGEDEDEVSEAQETPDHAIFRWLAISFASAHLTLTEPYRGGCQAQDYT
GGMGIVNGAKWNPRTGTINDFSYLHTNCLELSFYLGCDKFPHESELPREWENNKEALLTF
MEQVHRGIKGVVTDEQGIPIANATISVSGINHGVKTASGGDYWRILNPGEYRVTAHAEGY
TPSAKTCNVDYDIGATQCNFILARSNWKRIREIMAMNGNRPIPHIDPSRPMTPQQRRLQQ
RRLQHRLRLRAQMRLRRLNATTTLGPHTVPPTLPPAPATTLSTTIEPWGLIPPTTAGWEE
SETETYTEVVTEFGTEVEPEFGTKVEPEFETQLEPEFETQLEPEFEEEEEEEKEEEIATG
QAFPFTTVETYTVNFGDF
Sequence length 1158
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
104
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AEBP1-related disorder Likely pathogenic rs112082668 RCV003893527
Autism spectrum disorder Likely pathogenic rs145586647 RCV003128038
Ehlers-Danlos syndrome, classic type, 1 Pathogenic rs753531562 RCV001290233
Ehlers-Danlos syndrome, classic-like, 2 Pathogenic; Likely pathogenic rs2096226168, rs2096232673, rs145586647, rs2484341342, rs112082668, rs2484355096, rs369016031, rs777647845, rs1554327449, rs1554327284, rs1443187318 RCV001331673
RCV001331672
RCV005636840
RCV003145034
RCV006269922
RCV004527067
RCV000656230
RCV000656231
RCV000656232
RCV000656233
RCV000656733
Show/Hide Unknown Diseases (20)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs36040343 RCV005925071
Adrenocortical carcinoma, hereditary Benign rs61737461 RCV005903533
Cholangiocarcinoma Benign rs36040343 RCV005925072
Clear cell carcinoma of kidney Benign; Likely benign rs376965157 RCV005871067
Show/Hide Text Mining Associations (41)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Stimulate 27997051
Aortic Aneurysm Abdominal Associate 21593211
Blood Coagulation Disorders Associate 30779088
Carcinoma Ductal Stimulate 26744317
Carcinoma Hepatocellular Associate 40158165
Cardiomyopathy Hypertrophic Associate 34362365
Chemical and Drug Induced Liver Injury Associate 31299062
Colonic Neoplasms Associate 34938806
Colorectal Neoplasms Associate 36902343
Congenital Abnormalities Associate 36553625