AEBP1 (AE binding protein 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
165
Gene name Gene Name - the full gene name approved by the HGNC.
AE binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AEBP1
Synonyms (NCBI Gene) Gene synonyms aliases
ACLP
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p13
Summary Summary of gene provided in NCBI Entrez 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 wo
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602981 303 ENSG00000106624
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Classical-Like Ehlers-Danlos Syndrome ehlers-danlos syndrome, classic-like, 2 rs369016031, rs777647845, rs1554327449, rs1554327284, rs1443187318 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS
Show/Hide Text Mining Associations (41)
Associations from Text Mining Disease 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