1. Gene
  2. ARID4A - AT-rich interaction domain 4A Gene

ARID4A - AT-rich interaction domain 4A Gene

中文名称:AT-rich 交互域 4A

种属: Homo sapiens

同用名: RBP1; RBBP1; RBP-1; RBBP-1

基因 ID: 5926 | 基因类型: protein coding

关于 ARID4A

Cytogenetic location: 14q23.1 Genomic coordinates (GRCh38): 14:58,298,555-58,373,876 (from NCBI)

This gene has 11 transcripts (splice variants), 216 orthologues and 3 paralogues. Ubiquitous expression in bone marrow (RPKM 9.9), lymph node (RPKM 6.1) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种普遍表达的核蛋白。它与其他几种蛋白质直接结合调节细胞增殖的视网膜母细胞瘤蛋白 (pRB) 。 pRB 通过募集编码的蛋白质来抑制转录。反过来,这种蛋白质充当招募 HDAC 的桥接分子,此外,还提供第二种不依赖于 HDAC 的抑制功能。编码的蛋白质具有转录抑制活性。已观察到该基因的多个可变剪接转录物,但并未完全描述所有转录物变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several Other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]

ARID4A 基因产物(3)

mRNA Protein Name
NM_002892.4 NP_002883.3 AT-rich interactive domain-containing protein 4A isoform I
NM_023000.3 NP_075376.2 AT-rich interactive domain-containing protein 4A isoform II
NM_023001.3 NP_075377.2 AT-rich interactive domain-containing protein 4A isoform III
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding IDA
IDA: 通过直接分析推断
15640446 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12724404 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of transcription repressor complex IDA
IDA: 通过直接分析推断
11283269 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ARID4A 蛋白结构

RBB1NT

RBB1NT: RBB1NT (NUC162) domain (168 - 263)

ARID

ARID: ARID/BRIGHT DNA binding domain (309 - 397)

Tudor-knot

Tudor-knot: RNA binding activity-knot of a chromodomain (575 - 629)

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  • 1257 a.a.
蛋白主名 其他名称

AT-rich interactive domain-containing protein 4A

ARID domain-containing protein 4A

关联疾病

疾病名称 别名
Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Plasma Cell Neoplasm

Plasma Cell Dyscrasia

Paraproteinemias

Plasma Cell Tumour

Plasmacytic Tumor

Multiple Myeloma

Plasmacytoma

Plasma Cell Tumours

Plasma Cells Dyscrasia

Myeloma, Multiple

Multiple Myeloma

Plasma Cell Myeloma

Kahler Disease

Myelomatosis

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Kahler'S Disease

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Vulvar Sarcoma

Sarcoma Of Vulva

Vulva Sarcoma

Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis 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
Bos taurus ARID4A VGNC VGNC:26129
Mus musculus ARID4A MGD MGI:2444354
Rattus norvegicus ARID4A RGD RGD:1307442
Felis catus ARID4A VGNC VGNC:69255
Canis familiaris ARID4A VGNC VGNC:38098
Macaca mulatta ARID4A VGNC VGNC:70034