1. Gene
  2. AEBP1 - AE binding protein 1 Gene

AEBP1 - AE binding protein 1 Gene

中文名称:AE 结合蛋白 1

种属: Homo sapiens

同用名: ACLP

基因 ID: 165 | 基因类型: protein coding

关于 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.

功能概要

该基因编码羧肽酶 A 蛋白家族的成员。编码的蛋白质可能作为转录抑制因子发挥作用,并在脂肪生成和平滑肌细胞分化中发挥作用。小鼠研究表明,该基因在伤口愈合和腹壁发育中发挥作用。该基因的过度表达与胶质母细胞瘤有关。[RefSeq 提供,2013 年 5 月]

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 基因产物(1)

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

AEBP1 蛋白结构

F5_F8_type_C

F5_F8_type_C: F5/8 type C domain (399 - 537)

Peptidase_M14

Peptidase_M14: Zinc carboxypeptidase (570 - 895)

CarboxypepD_reg

CarboxypepD_reg: Carboxypeptidase regulatory-like domain (908 - 970)

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  • 1158 a.a.
蛋白主名 其他名称

adipocyte enhancer-binding protein 1

aortic carboxypeptidase-like protein

重组 AEBP1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P79225 ACLP Protein, Human (HEK293, His) Q8IUX7 (Q26-F1158) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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