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  2. BICRA - BRD4 interacting chromatin remodeling complex associated protein Gene

BICRA - BRD4 interacting chromatin remodeling complex associated protein Gene

中文名称:BRD4 相互作用染色质重塑复合物相关蛋白

种属: Homo sapiens

同用名: CSS12; GLTSCR1; SMARCK1

基因 ID: 29998 | 基因类型: protein coding

关于 BICRA

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:47,608,196-47,703,277 (from NCBI)

This gene has 4 transcripts (splice variants), 183 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 1.9), prostate (RPKM 1.7) and 25 other tissues.

功能概要

启用转录调节激活剂活性。参与转录的正调控,以 DNA 为模板。位于核内。 SWI/SNF 复合体的一部分。与 Coffin-Siris 综合征有关。 [由基因组资源联盟提供,2022 年 4 月]

Enables transcription regulator activator activity. Involved in positive regulation of transcription, DNA-templated. Located in nucleus. Part of SWI/SNF complex. Implicated in Coffin-Siris syndrome. [provided by Alliance of Genome Resources, Apr 2022]

BICRA 基因产物(2)

mRNA Protein Name
NM_001394372.1 NP_001381301.1 BRD4-interacting chromatin-remodeling complex-associated protein
NM_015711.3 NP_056526.3 BRD4-interacting chromatin-remodeling complex-associated protein

BICRA 蛋白结构

GLTSCR1

GLTSCR1: Conserved region of unknown function on GLTSCR protein (1084 - 1188)

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  • 1560 a.a.
蛋白主名 其他名称

BRD4-interacting chromatin-remodeling complex-associated protein

BRD4 interacting chromatin remodelling complex associated protein

BICRA 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BICRA Q9NZM4 NCK1 Homo sapiens P16333 17474147
种属内
BICRA Q9NZM4 CRK Homo sapiens P46108 17474147
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Coffin-Siris Syndrome 12

CSS12

Neuroma
Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Hypertrichosis
Clark-Baraitser Syndrome

CLABARS

Baraitser Syndrome

Autosomal Dominant Intellectual Disability 49

Mental Retardation, Autosomal Dominant 49, Formerly

Mrd49, Formerly

Intellectual Developmental Disorder, Autosomal Dominant 49

Autosomal Dominant Mental Retardation 49

Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features

Mrd49

Progeria Short Stature Pigmented Nevi

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 BICRA VGNC VGNC:38454
Felis catus BICRA VGNC VGNC:82434
Mus musculus BICRA MGD MGI:2154263
Bos taurus BICRA VGNC VGNC:26494
Macaca mulatta BICRA VGNC VGNC:70466
Rattus norvegicus BICRA RGD RGD:1306385