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Protein

Adipocyte enhancer-binding protein 1

Gene

AEBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Isoform 1: As a positive regulator of collagen fibrillogenesis, it is probably involved in the organization and remodeling of the extracellualr matrix.1 Publication
Isoform 2: May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness. Can act as a transcriptional repressor.By similarity

Caution

Although related to peptidase M14 family, lacks the active site residues and zinc-binding sites, suggesting that it has no carboxypeptidase activity.Curated

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionCalmodulin-binding, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Protein family/group databases

MEROPSiM14.951

Names & Taxonomyi

Protein namesi
Recommended name:
Adipocyte enhancer-binding protein 1
Short name:
AE-binding protein 1
Alternative name(s):
Aortic carboxypeptidase-like protein
Gene namesi
Name:AEBP1
Synonyms:ACLP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106624.8
HGNCiHGNC:303 AEBP1
MIMi602981 gene
neXtProtiNX_Q8IUX7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus, Secreted

Pathology & Biotechi

Involvement in diseasei

Ehlers-Danlos syndrome, classic-like, 2 (EDSCLL2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA variant form of Ehlers-Danlos syndrome, a connective tissue disorder. EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2 inheritance is autosomal recessive.
See also OMIM:618000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080664581 – 1158Missing in EDSCLL2. 1 PublicationAdd BLAST578

Keywords - Diseasei

Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNETi165
MalaCardsiAEBP1
MIMi618000 phenotype
OpenTargetsiENSG00000106624
PharmGKBiPA24604

Polymorphism and mutation databases

DMDMi74728002

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000033318926 – 1158Adipocyte enhancer-binding protein 1Add BLAST1133

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi528N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi922N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

Phosphorylated by MAPK1 in vitro.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8IUX7
MaxQBiQ8IUX7
PaxDbiQ8IUX7
PeptideAtlasiQ8IUX7
PRIDEiQ8IUX7
ProteomicsDBi70626
70627 [Q8IUX7-2]

PTM databases

GlyConnecti995
iPTMnetiQ8IUX7
PhosphoSitePlusiQ8IUX7

Expressioni

Tissue specificityi

Expressed in osteoblast and visceral fat.1 Publication

Gene expression databases

BgeeiENSG00000106624 Expressed in 222 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_AEBP1
ExpressionAtlasiQ8IUX7 baseline and differential
GenevisibleiQ8IUX7 HS

Organism-specific databases

HPAiCAB009966
HPA047724
HPA063595
HPA064970

Interactioni

Subunit structurei

Isoform 1: Interacts with different types of collagen, including collagens I, III, and V (PubMed:29606302). Isoform 2: Interacts with GNG5, NFKBIA, MAPK1, MAPK3 and PTEN. Interaction with MAPK1 may stimulate DNA-binding. May interact with calmodulin. Binds to DNA in vitro.By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106674, 1 interactor
IntActiQ8IUX7, 2 interactors
STRINGi9606.ENSP00000223357

Structurei

3D structure databases

ProteinModelPortaliQ8IUX7
SMRiQ8IUX7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini383 – 540F5/8 type CPROSITE-ProRule annotationAdd BLAST158

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni390 – 555Required for DNA-binding and interaction with NFKBIABy similarityAdd BLAST166
Regioni421 – 624Interaction with MAPK1 and MAPK3By similarityAdd BLAST204
Regioni555 – 985Interaction with PTENBy similarityAdd BLAST431
Regioni941 – 1158Required for transcriptional repressionBy similarityAdd BLAST218
Regioni1006 – 1158Interaction with MAPK1 and MAPK3By similarityAdd BLAST153

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi47 – 326Pro-richAdd BLAST280
Compositional biasi1079 – 1136Glu-richAdd BLAST58

Domaini

Isoform 1: The F5/8 type C domain binds to different types of collagen, including collagens I, III, and V.1 Publication

Sequence similaritiesi

Belongs to the peptidase M14 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2649 Eukaryota
ENOG410XX0H LUCA
GeneTreeiENSGT00760000119124
HOGENOMiHOG000232185
HOVERGENiHBG003410
InParanoidiQ8IUX7
KOiK21392
OMAiEEGFDIY
OrthoDBiEOG091G06A9
PhylomeDBiQ8IUX7
TreeFamiTF315592

Family and domain databases

CDDicd00057 FA58C, 1 hit
cd03869 M14_CPX_like, 1 hit
Gene3Di2.60.120.260, 1 hit
InterProiView protein in InterPro
IPR034243 AEBP1/CPX_M14_CPD
IPR008969 CarboxyPept-like_regulatory
IPR000421 FA58C
IPR008979 Galactose-bd-like_sf
IPR000834 Peptidase_M14
PfamiView protein in Pfam
PF00754 F5_F8_type_C, 1 hit
PF00246 Peptidase_M14, 1 hit
PRINTSiPR00765 CRBOXYPTASEA
SMARTiView protein in SMART
SM00231 FA58C, 1 hit
SM00631 Zn_pept, 1 hit
SUPFAMiSSF49464 SSF49464, 1 hit
SSF49785 SSF49785, 1 hit
PROSITEiView protein in PROSITE
PS00132 CARBOXYPEPT_ZN_1, 1 hit
PS01285 FA58C_1, 1 hit
PS01286 FA58C_2, 1 hit
PS50022 FA58C_3, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IUX7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAVRGAPLL SCLLALLALC PGGRPQTVLT DDEIEEFLEG FLSELEPEPR
60 70 80 90 100
EDDVEAPPPP EPTPRVRKAQ AGGKPGKRPG TAAEVPPEKT KDKGKKGKKD
110 120 130 140 150
KGPKVPKESL EGSPRPPKKG KEKPPKATKK PKEKPPKATK KPKEKPPKAT
160 170 180 190 200
KKPKEKPPKA TKKPPSGKRP PILAPSETLE WPLPPPPSPG PEELPQEGGA
210 220 230 240 250
PLSNNWQNPG EETHVEAREH QPEPEEETEQ PTLDYNDQIE REDYEDFEYI
260 270 280 290 300
RRQKQPRPPP SRRRRPERVW PEPPEEKAPA PAPEERIEPP VKPLLPPLPP
310 320 330 340 350
DYGDGYVIPN YDDMDYYFGP PPPQKPDAER QTDEEKEELK KPKKEDSSPK
360 370 380 390 400
EETDKWAVEK GKDHKEPRKG EELEEEWTPT EKVKCPPIGM ESHRIEDNQI
410 420 430 440 450
RASSMLRHGL GAQRGRLNMQ TGATEDDYYD GAWCAEDDAR TQWIEVDTRR
460 470 480 490 500
TTRFTGVITQ GRDSSIHDDF VTTFFVGFSN DSQTWVMYTN GYEEMTFHGN
510 520 530 540 550
VDKDTPVLSE LPEPVVARFI RIYPLTWNGS LCMRLEVLGC SVAPVYSYYA
560 570 580 590 600
QNEVVATDDL DFRHHSYKDM RQLMKVVNEE CPTITRTYSL GKSSRGLKIY
610 620 630 640 650
AMEISDNPGE HELGEPEFRY TAGIHGNEVL GRELLLLLMQ YLCREYRDGN
660 670 680 690 700
PRVRSLVQDT RIHLVPSLNP DGYEVAAQMG SEFGNWALGL WTEEGFDIFE
710 720 730 740 750
DFPDLNSVLW GAEERKWVPY RVPNNNLPIP ERYLSPDATV STEVRAIIAW
760 770 780 790 800
MEKNPFVLGA NLNGGERLVS YPYDMARTPT QEQLLAAAMA AARGEDEDEV
810 820 830 840 850
SEAQETPDHA IFRWLAISFA SAHLTLTEPY RGGCQAQDYT GGMGIVNGAK
860 870 880 890 900
WNPRTGTIND FSYLHTNCLE LSFYLGCDKF PHESELPREW ENNKEALLTF
910 920 930 940 950
MEQVHRGIKG VVTDEQGIPI ANATISVSGI NHGVKTASGG DYWRILNPGE
960 970 980 990 1000
YRVTAHAEGY TPSAKTCNVD YDIGATQCNF ILARSNWKRI REIMAMNGNR
1010 1020 1030 1040 1050
PIPHIDPSRP MTPQQRRLQQ RRLQHRLRLR AQMRLRRLNA TTTLGPHTVP
1060 1070 1080 1090 1100
PTLPPAPATT LSTTIEPWGL IPPTTAGWEE SETETYTEVV TEFGTEVEPE
1110 1120 1130 1140 1150
FGTKVEPEFE TQLEPEFETQ LEPEFEEEEE EEKEEEIATG QAFPFTTVET

YTVNFGDF
Length:1,158
Mass (Da):130,929
Last modified:March 1, 2003 - v1
Checksum:i1D7F4A20451646AE
GO
Isoform 2 (identifier: Q8IUX7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-457: Missing.
     458-495: ITQGRDSSIH...VMYTNGYEEM → MRKWWAPCPG...STALRPASPQ
     543-544: AP → ARECGGLAGALSGGGVLGWASRHPAKDNPASLAA

Note: No experimental confirmation available.
Show »
Length:733
Mass (Da):82,183
Checksum:iA749B43E37811E45
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4B5H7C4B5_HUMAN
Adipocyte enhancer-binding protein ...
AEBP1
54Annotation score:
H7C391H7C391_HUMAN
Adipocyte enhancer-binding protein ...
AEBP1
66Annotation score:
H7C0W8H7C0W8_HUMAN
Adipocyte enhancer-binding protein ...
AEBP1
104Annotation score:
H7C1J5H7C1J5_HUMAN
Adipocyte enhancer-binding protein ...
AEBP1
69Annotation score:
C9JLQ8C9JLQ8_HUMAN
Adipocyte enhancer-binding protein ...
AEBP1
162Annotation score:
H7C3D7H7C3D7_HUMAN
Adipocyte enhancer-binding protein ...
AEBP1
251Annotation score:

Sequence cautioni

The sequence BAD92981 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti145K → E in AAC25585 (PubMed:9624159).Curated1
Sequence conflicti218R → Q in AAC25585 (PubMed:9624159).Curated1
Sequence conflicti569D → G in BAC87026 (PubMed:14702039).Curated1
Sequence conflicti715R → G in BAC87026 (PubMed:14702039).Curated1
Sequence conflicti884S → G in BAC87026 (PubMed:14702039).Curated1
Sequence conflicti1079E → G in BAD92981 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043118273P → T. Corresponds to variant dbSNP:rs2537188Ensembl.1
Natural variantiVAR_080664581 – 1158Missing in EDSCLL2. 1 PublicationAdd BLAST578
Natural variantiVAR_043119648D → E. Corresponds to variant dbSNP:rs11770649Ensembl.1
Natural variantiVAR_0431201001P → L. Corresponds to variant dbSNP:rs4724285Ensembl.1
Natural variantiVAR_0431211133K → E1 PublicationCorresponds to variant dbSNP:rs13928Ensembl.1
Natural variantiVAR_0431221148V → I. Corresponds to variant dbSNP:rs13898Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0334671 – 457Missing in isoform 2. 1 PublicationAdd BLAST457
Alternative sequenceiVSP_033468458 – 495ITQGR…GYEEM → MRKWWAPCPGSWLCSHCLGE GWALRGAGSTALRPASPQ in isoform 2. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_033469543 – 544AP → ARECGGLAGALSGGGVLGWA SRHPAKDNPASLAA in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF053944 mRNA Translation: AAC25585.1
AK127541 mRNA Translation: BAC87026.1
AB209744 mRNA Translation: BAD92981.1 Different initiation.
CH236960 Genomic DNA Translation: EAL23768.1
CH471128 Genomic DNA Translation: EAW61119.1
BC038588 mRNA Translation: AAH38588.1
D86479 mRNA Translation: BAA13094.1
CCDSiCCDS5476.1 [Q8IUX7-1]
PIRiJC5256
RefSeqiNP_001120.3, NM_001129.4 [Q8IUX7-1]
UniGeneiHs.439463

Genome annotation databases

EnsembliENST00000223357; ENSP00000223357; ENSG00000106624 [Q8IUX7-1]
ENST00000450684; ENSP00000398878; ENSG00000106624 [Q8IUX7-2]
GeneIDi165
KEGGihsa:165
UCSCiuc003tkb.5 human [Q8IUX7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF053944 mRNA Translation: AAC25585.1
AK127541 mRNA Translation: BAC87026.1
AB209744 mRNA Translation: BAD92981.1 Different initiation.
CH236960 Genomic DNA Translation: EAL23768.1
CH471128 Genomic DNA Translation: EAW61119.1
BC038588 mRNA Translation: AAH38588.1
D86479 mRNA Translation: BAA13094.1
CCDSiCCDS5476.1 [Q8IUX7-1]
PIRiJC5256
RefSeqiNP_001120.3, NM_001129.4 [Q8IUX7-1]
UniGeneiHs.439463

3D structure databases

ProteinModelPortaliQ8IUX7
SMRiQ8IUX7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106674, 1 interactor
IntActiQ8IUX7, 2 interactors
STRINGi9606.ENSP00000223357

Protein family/group databases

MEROPSiM14.951

PTM databases

GlyConnecti995
iPTMnetiQ8IUX7
PhosphoSitePlusiQ8IUX7

Polymorphism and mutation databases

DMDMi74728002

Proteomic databases

EPDiQ8IUX7
MaxQBiQ8IUX7
PaxDbiQ8IUX7
PeptideAtlasiQ8IUX7
PRIDEiQ8IUX7
ProteomicsDBi70626
70627 [Q8IUX7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223357; ENSP00000223357; ENSG00000106624 [Q8IUX7-1]
ENST00000450684; ENSP00000398878; ENSG00000106624 [Q8IUX7-2]
GeneIDi165
KEGGihsa:165
UCSCiuc003tkb.5 human [Q8IUX7-1]

Organism-specific databases

CTDi165
DisGeNETi165
EuPathDBiHostDB:ENSG00000106624.8
GeneCardsiAEBP1
HGNCiHGNC:303 AEBP1
HPAiCAB009966
HPA047724
HPA063595
HPA064970
MalaCardsiAEBP1
MIMi602981 gene
618000 phenotype
neXtProtiNX_Q8IUX7
OpenTargetsiENSG00000106624
PharmGKBiPA24604
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2649 Eukaryota
ENOG410XX0H LUCA
GeneTreeiENSGT00760000119124
HOGENOMiHOG000232185
HOVERGENiHBG003410
InParanoidiQ8IUX7
KOiK21392
OMAiEEGFDIY
OrthoDBiEOG091G06A9
PhylomeDBiQ8IUX7
TreeFamiTF315592

Miscellaneous databases

ChiTaRSiAEBP1 human
GenomeRNAii165
PROiPR:Q8IUX7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106624 Expressed in 222 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_AEBP1
ExpressionAtlasiQ8IUX7 baseline and differential
GenevisibleiQ8IUX7 HS

Family and domain databases

CDDicd00057 FA58C, 1 hit
cd03869 M14_CPX_like, 1 hit
Gene3Di2.60.120.260, 1 hit
InterProiView protein in InterPro
IPR034243 AEBP1/CPX_M14_CPD
IPR008969 CarboxyPept-like_regulatory
IPR000421 FA58C
IPR008979 Galactose-bd-like_sf
IPR000834 Peptidase_M14
PfamiView protein in Pfam
PF00754 F5_F8_type_C, 1 hit
PF00246 Peptidase_M14, 1 hit
PRINTSiPR00765 CRBOXYPTASEA
SMARTiView protein in SMART
SM00231 FA58C, 1 hit
SM00631 Zn_pept, 1 hit
SUPFAMiSSF49464 SSF49464, 1 hit
SSF49785 SSF49785, 1 hit
PROSITEiView protein in PROSITE
PS00132 CARBOXYPEPT_ZN_1, 1 hit
PS01285 FA58C_1, 1 hit
PS01286 FA58C_2, 1 hit
PS50022 FA58C_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAEBP1_HUMAN
AccessioniPrimary (citable) accession number: Q8IUX7
Secondary accession number(s): Q14113
, Q59ER7, Q6ZSC7, Q7KZ79
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 143 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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