AEBP1 (AE binding protein 1)

Gene

• 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 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

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
MIRT770407	hsa-miR-302b	CLIP-seq
MIRT770408	hsa-miR-302c	CLIP-seq
MIRT770409	hsa-miR-302d	CLIP-seq
MIRT770410	hsa-miR-302e	CLIP-seq
MIRT770411	hsa-miR-3118	CLIP-seq
MIRT770412	hsa-miR-3137	CLIP-seq
MIRT770413	hsa-miR-3164	CLIP-seq
MIRT770414	hsa-miR-3198	CLIP-seq
MIRT770415	hsa-miR-3619-5p	CLIP-seq
MIRT770416	hsa-miR-372	CLIP-seq
MIRT770417	hsa-miR-373	CLIP-seq
MIRT770418	hsa-miR-4291	CLIP-seq
MIRT770419	hsa-miR-4309	CLIP-seq
MIRT770420	hsa-miR-4318	CLIP-seq
MIRT770421	hsa-miR-4453	CLIP-seq
MIRT770422	hsa-miR-4501	CLIP-seq
MIRT770423	hsa-miR-4538	CLIP-seq
MIRT770424	hsa-miR-4690-5p	CLIP-seq
MIRT770425	hsa-miR-4701-3p	CLIP-seq
MIRT770426	hsa-miR-4716-5p	CLIP-seq
MIRT770427	hsa-miR-4718	CLIP-seq
MIRT770428	hsa-miR-4747-5p	CLIP-seq
MIRT770429	hsa-miR-512-3p	CLIP-seq
MIRT770430	hsa-miR-520a-3p	CLIP-seq
MIRT770431	hsa-miR-520b	CLIP-seq
MIRT770432	hsa-miR-520c-3p	CLIP-seq
MIRT770433	hsa-miR-520d-3p	CLIP-seq
MIRT770434	hsa-miR-520e	CLIP-seq
MIRT770435	hsa-miR-761	CLIP-seq
MIRT770436	hsa-miR-922	CLIP-seq
MIRT770437	hsa-miR-943	CLIP-seq
MIRT2168121	hsa-miR-3667-3p	CLIP-seq
MIRT2435264	hsa-miR-1207-5p	CLIP-seq
MIRT2435265	hsa-miR-149	CLIP-seq
MIRT2435266	hsa-miR-3064-5p	CLIP-seq
MIRT2435267	hsa-miR-3665	CLIP-seq
MIRT2435268	hsa-miR-4672	CLIP-seq
MIRT2435269	hsa-miR-4722-5p	CLIP-seq
MIRT2435270	hsa-miR-4736	CLIP-seq
MIRT2435271	hsa-miR-4763-3p	CLIP-seq
MIRT2435272	hsa-miR-4794	CLIP-seq
MIRT2435273	hsa-miR-760	CLIP-seq

Gene ontology (GO)

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
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	15654748
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP	15654748
GO:0003677	Function	DNA binding	IEA
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IBA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 28327460, 28675934
GO:0005516	Function	Calmodulin binding	IEA
GO:0005518	Function	Collagen binding	IDA	29606302
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006518	Process	Peptide metabolic process	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016485	Process	Protein processing	IBA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28327460, 28675934
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:1904026	Process	Regulation of collagen fibril organization	IDA	29606302

Other IDs

• MIM: 602981
• HGNC: 303
• e!Ensembl: ENSG00000106624

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
AEBP1-related disorder	Likely pathogenic	rs112082668	RCV003893527	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic	rs145586647	RCV003128038	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, classic type, 1	Pathogenic	rs753531562	RCV001290233	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL-LIKE EHLERS-DANLOS SYNDROME TYPE 2	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, classic type, 2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	31219650		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27997051	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	21593211	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31462616		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	30779088	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27836980		★☆☆☆☆ Found in Text Mining only
Bursitis	Bursitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	26744317	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	40158165	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	31556145		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34362365	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	GWASCAT_DG	30833571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30779088		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31219650		★☆☆☆☆ Found in Text Mining only
Classical-like Ehlers-Danlos syndrome type 2	Classical-Like Ehlers-Danlos Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	34938806	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30655737		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36902343	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36553625	Associate	★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	30548383		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34332599	Associate	★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	29606302, 30548383, 30668708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	Classical-Like Ehlers-Danlos Syndrome	CLINVAR_DG	29606302		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	Classical-Like Ehlers-Danlos Syndrome	ORPHANET_DG	30759870		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometriosis	Endometriosis	Pubtator	38115253	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28214827, 29553485, 31299062		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31299062		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	BEFREE	20386491, 22821744		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22723309, 31601918		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22723309, 31601918, 32938364, 38019838	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33224311, 34373835	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22723309, 31601918		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22723309, 31601918		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22723309	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31601918, 32938364, 34373835	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34373835	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30779088	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	31299062	Associate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27836980		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30097586		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30097586		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24201813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30097586, 30655737, 31219650		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28214827		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28214827, 29553485		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29606302	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30668708		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37108678	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19179605		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	19179605		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	30097586	Stimulate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	27997051		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	39521917	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30097586		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30097586	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	38237535	Associate	★☆☆☆☆ Found in Text Mining only