AEBP1 (AE binding protein 1)

Gene

• Entrez ID: 165
• Gene name: AE binding protein 1
• Gene symbol: AEBP1
• Synonyms: 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	IBA	21873635
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	21873635
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	15654748
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	21873635
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:0004181	Function	Metallocarboxypeptidase activity	IBA	21873635
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:0005615	Component	Extracellular space	HDA	20551380
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006518	Process	Peptide metabolic process	IBA	21873635
GO:0008270	Function	Zinc ion binding	IEA
GO:0016485	Process	Protein processing	IBA	21873635
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28327460, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Carpal tunnel syndrome	Carpal Tunnel Syndrome	rs28936368, rs121918088	30833571
Classical-like ehlers-danlos syndrome	Classical-like Ehlers-Danlos syndrome type 2, EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	rs786200922, rs786200923, rs80338764, rs2132830442, rs183495554, rs765079080, rs786205100, rs121912933, rs786205101, rs786205102, rs121912930, rs387906606, rs863223491, rs863223444, rs863223469, rs863223478, rs863223473, rs863223458, rs886042045, rs886042173, rs1060502255, rs1060502259, rs1060502242, rs769752636, rs1060502258, rs764693725, rs1060502250, rs1060502248, rs1064796684, rs1085307855, rs1131691820, rs1131691996, rs1554792011, rs1554805142, rs1554808357, rs1554726279, rs1554803622, rs1554807812, rs1554781678, rs1554787557, rs1554792869, rs1553517323, rs1554787811, rs1553513657, rs1179967153, rs1554726283, rs369016031, rs777647845, rs1554327449, rs1554327284, rs1443187318, rs1559085564, rs1559104199, rs1559085578, rs1564471440, rs1564475090, rs1564478485, rs1564455577, rs35002351, rs1564191704, rs1564457102, rs1564482508, rs1564487306, rs1564418237, rs1564446117, rs1564453831, rs1564453833, rs1564481053, rs1588448655, rs1588449879, rs1032017865, rs1588551159, rs1588589663, rs1219304070, rs1588615658, rs1576502045, rs1576517517, rs1588551226, rs1588562135, rs1588577214, rs1588477255, rs1588621711, rs1833261804, rs1834751333, rs1834837756, rs201625736, rs1837406273, rs1838291478, rs1838729952, rs1838935159, rs1838936100, rs1839084095, rs1839803841, rs1685734160, rs1835753446, rs1833255504, rs1685586746	29606302, 30759870
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287

Unknown
Disease name	Disease term	dbSNP ID	References
Bursitis	Bursitis
Congenital exomphalos	Congenital exomphalos
High palate	Byzanthine arch palate
Macrotia	Macrotia
Micrognathism	Micrognathism
Neck webbing	Neck webbing