1. Gene
  2. BAIAP3 - BAI1 associated protein 3 Gene

BAIAP3 - BAI1 associated protein 3 Gene

中文名称:BAI1 相关蛋白 3

种属: Homo sapiens

同用名: BAP3

基因 ID: 8938 | 基因类型: protein coding

关于 BAIAP3

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,333,645-1,349,439 (from NCBI)

This gene has 16 transcripts (splice variants), 159 orthologues and 1 paralogue. Broad expression in adrenal (RPKM 9.7), brain (RPKM 8.5) and 19 other tissues.

功能概要

这种 p53 靶基因编码一种脑特异性血管生成抑制剂。该蛋白是一种七跨度跨膜蛋白,是分泌素受体家族的一员。它与脑特异性血管生成抑制剂 1 的细胞质区域相互作用。该蛋白质还包含两个 C2 结构域,通常存在于参与信号转导或膜运输的蛋白质中。它的表达模式和与其他蛋白质的相似性表明它可能参与突触功能。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2010 年 11 月]

This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the Secretin Receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to Other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

BAIAP3 基因产物(6)

mRNA Protein Name
NM_001199096.2 NP_001186025.1 BAI1-associated protein 3 isoform 2
NM_001199097.2 NP_001186026.1 BAI1-associated protein 3 isoform 3
NM_001199098.2 NP_001186027.1 BAI1-associated protein 3 isoform 4
NM_001199099.2 NP_001186028.1 BAI1-associated protein 3 isoform 5
NM_001286464.2 NP_001273393.2 BAI1-associated protein 3 isoform 6
NM_003933.5 NP_003924.2 BAI1-associated protein 3 isoform 1

BAIAP3 蛋白结构

C2

C2: C2 domain (197 - 301)

Membr_traf_MHD

Membr_traf_MHD: Munc13 (mammalian uncoordinated) homology domain (888 - 996)

C2

C2: C2 domain (1027 - 1118)

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  • 1000
  • 1187 a.a.
蛋白主名 其他名称

BAI1-associated protein 3

BAI-associated protein 3

关联疾病

疾病名称 别名
Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16

Atr Syndrome Linked To Chromosome 16

Atr Syndrome, Deletion Type

Atr-16 Syndrome

Alpha Thalassemia-Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia/Mental Retardation Syndrome, Type 1

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

Desmoplastic Small Round Cell Tumor

Dsrct

Desmoplastic Small Round-Cell Tumor

Desmoplastic Small Round-Cell Neoplasm

Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly

Conorenal Syndrome

Saldino-Mainzer Syndrome

SRTD9

Mainzer-Saldino Syndrome

Mzsds

Mainzer-Saldino Disease

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy

Mainzer Saldino Syndrome

Conorenal Dysplasia

Mainzer-Saldino Chondrodysplasia

Saldino-Mainzer Dysplasia

Short-Rib Thoracic Dysplasia 9

Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome

Mss

Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia

Heinz Body Anemias

Heinz Body Anemia

Heinz Body Anemias, Alpha-

HEIBAN

Anemia, Heinz Body

Acquired Heinz Body Anemia

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
Mus musculus BAIAP3 MGD MGI:2685783
Canis familiaris BAIAP3 VGNC VGNC:38374
Macaca mulatta BAIAP3 VGNC VGNC:70223
Rattus norvegicus BAIAP3 RGD RGD:10059729
Bos taurus BAIAP3 VGNC VGNC:26415