AEBP1 - AE binding protein 1 Gene

Homo sapiens

Also known as ACLP

Gene ID: 165 | Gene type: protein coding

About AEBP1

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:44,104,345-44,114,560 (from NCBI)

This gene has 9 transcripts (splice variants), 264 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in gall bladder (RPKM 100.0), endometrium (RPKM 86.2) and 23 other tissues.

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 wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]

AEBP1 Products(1)

mRNA	Protein	Name
NM_001129.5	NP_001120.3	adipocyte enhancer-binding protein 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15654748	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	15654748	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	15654748	GOA
enables collagen binding	IDA IDA: Inferred from direct assay	29606302	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	15654748	GOA
involved in regulation of collagen fibril organization	IDA IDA: Inferred from direct assay	29606302	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AEBP1 Protein Structure

F5_F8_type_C

Peptidase_M14

CarboxypepD_reg

0
200
400
600
800
1000
1158 a.a.

Protein Preferred Names

Protein Names

adipocyte enhancer-binding protein 1

aortic carboxypeptidase-like protein

Related Diseases

Diseases

Alias

Ehlers-Danlos Syndrome, Classic-Like, 2

EDSCLL2	Ehlers-Danlos Syndrome Classic-Like 2
Classical-Like Ehlers-Danlos Syndrome Type 2	Aebp1-Related Eds
Aebp1-Related Ehlers-Danlos Syndrome	Classical-Like Eds Type 2
Cleds Type 2

Ehlers-Danlos Syndrome, Classic Type, 1

Ehlers-Danlos Syndrome, Type I	EDSCL1
Ehlers-Danlos Syndrome Classic Type 1	Ehlers-Danlos Syndrome Type 1
Ehlers-Danlos Syndrome, Type I, Formerly	Eds1, Formerly
Ehlers-Danlos Syndrome, Severe Classic Type, Formerly	Eds I, Formerly
Ehlers-Danlos Syndrome, Gravis Type, Formerly	Ehlers-Danlos Syndrome, Type 1
Type I Ehlers-Danlos Syndrome	Eds1
Eds I	Ehlers-Danlos Syndrome, Gravis Type
Ehlers-Danlos Syndrome, Severe Classic Type	Ehlers-Danlos Syndrome 1
Ehlers-Danlos, Classic Syndrome, Type 1	Ehlers-Danlos Syndrome Type 2

Gastroschisis

Laparoschisis	Congenital Fissure Of The Abdominal Cavity
Abdominal Wall Defect	Abdominal Hernia
Hernia, Abdominal	Omphalocele
Abnormality Of The Abdominal Wall	Congenital Omphalocele
Coeloschisis	Coelioschisis
Celoschisis	Congenital Para-Umbilical Hernia

Ehlers-Danlos Syndrome, Classic-Like

Ehlers-Danlos Syndrome Due To Tenascin-X Deficiency	Tnx Deficiency
Eds Due To Tnx Deficiency	EDSCLL
Classical-Like Eds Type 1	Classical-Like Ehlers-Danlos Syndrome Type 1
Cleds Type 1	Ehlers-Danlos Syndrome, Classic-Like, 1
Ehlers-Danlos Syndrome Classic-Like 1	Classical-Like Ehlers-Danlos Syndrome
Classical-Like Eds	Eds, Classic-Like Type
Ehlers-Danlos Syndrome, Classic-Like Type	Cleds
Ehlers-Danlos Syndrome, Autosomal Recessive, Due To Tenascin X Deficiency	Ehlers-Danlos Syndrome Due To Tenascin X Deficiency
Tenascin-X Deficiency	Ehlers-Danlos Due To Tenascin X Deficiency
Ehlers-Danlos Syndrome Caused By Tenascin-X Deficiency

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Larsen-Like Syndrome B3gat3 Type

Larsen-Like Syndrome, B3gat3 Type	Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects	Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Caspase 8 Deficiency

Autoimmune Lymphoproliferative Syndrome Type 2b	Caspase-8 Deficiency
Ceds	Alps2b
Autoimmune Lymphoproliferative Syndrome, Type Iib	Alps With Recurrent Viral Infections
Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections	Caspase 8 Deficiency Syndrome
Caspase 8 Lymphadenopathy Syndrome	Autoimmune Lymphoproliferative Syndrome Type Iib
Caspase Eight Deficiency State	CASP8D

Glioblastoma

Glioblastoma Multiforme	Gbm
Adult Glioblastoma Multiforme	Grade Iv Adult Astrocytic Tumor
Primary Glioblastoma Multiforme	Spongioblastoma Multiforme
Adult Glioblastoma	Primary Glioblastoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00422	AEBP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AEBP1	VGNC	VGNC:37681
Felis catus	AEBP1	VGNC	VGNC:59662
Macaca mulatta	AEBP1	VGNC	VGNC:80328
Bos taurus	AEBP1	VGNC	VGNC:25703
Mus musculus	AEBP1	MGD	MGI:1197012
Rattus norvegicus	AEBP1	RGD	RGD:1306922
Others	AEBP1	NCBI

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