ENSG00000106624


Homo sapiens

Features
Gene ID: ENSG00000106624
  
Biological name :AEBP1
  
Synonyms : AE binding protein 1 / AEBP1 / Q8IUX7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: p13
Gene start: 44104361
Gene end: 44114562
  
Corresponding Affymetrix probe sets: 201792_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000410349
Ensembl peptide - ENSP00000416568
Ensembl peptide - ENSP00000411277
Ensembl peptide - ENSP00000223357
Ensembl peptide - ENSP00000397241
Ensembl peptide - ENSP00000398878
Ensembl peptide - ENSP00000400660
Ensembl peptide - ENSP00000401758
NCBI entrez gene - 165     See in Manteia.
OMIM - 602981
RefSeq - NM_001129
RefSeq - XM_011515162
RefSeq Peptide - NP_001120
swissprot - C9JLQ8
swissprot - H7C4B5
swissprot - Q8IUX7
swissprot - H7C3D7
swissprot - H7C0W8
swissprot - H7C1J5
swissprot - H7C391
Ensembl - ENSG00000106624
  
Related genetic diseases (OMIM): 618000 - Ehlers-Danlos syndrome, classic-like, 2, 618000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aebp1ENSDARG00000091726Danio rerio
 si:ch1073-459j12.1ENSDARG00000006901Danio rerio
 AEBP1ENSGALG00000041834Gallus gallus
 Aebp1ENSMUSG00000020473Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CPXM2 / Q8N436 / carboxypeptidase X, M14 family member 2ENSG0000012189835
CPXM1 / Q96SM3 / carboxypeptidase X, M14 family member 1ENSG0000008888231
CPD / O75976 / carboxypeptidase DENSG0000010858221
CPZ / Q66K79 / carboxypeptidase ZENSG0000010962518
CPN1 / P15169 / carboxypeptidase N subunit 1ENSG0000012005417
CPE / P16870 / carboxypeptidase EENSG0000010947215
CPM / P14384 / carboxypeptidase MENSG0000013567811


Protein motifs (from Interpro)
Interpro ID Name
 IPR000421  Coagulation factor 5/8 C-terminal domain
 IPR000834  Peptidase M14, carboxypeptidase A
 IPR008969  Carboxypeptidase-like, regulatory domain superfamily
 IPR008979  Galactose-binding-like domain superfamily
 IPR034243  AEBP1/CPX, carboxypeptidase domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001501 skeletal system development TAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006518 peptide metabolic process IBA
 biological_processGO:0007517 muscle organ development TAS
 biological_processGO:0016485 protein processing IBA
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0004180 carboxypeptidase activity TAS
 molecular_functionGO:0004181 metallocarboxypeptidase activity IEA
 molecular_functionGO:0004185 serine-type carboxypeptidase activity IBA
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0008270 zinc ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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