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  2. WDHD1 - WD repeat and HMG-box DNA binding protein 1 Gene

WDHD1 - WD repeat and HMG-box DNA binding protein 1 Gene

中文名称:WD 重复序列和 HMG-box DNA 结合蛋白 1

种属: Homo sapiens

同用名: AND1; CTF4; AND-1; CHTF4

基因 ID: 11169 | 基因类型: protein coding

关于 WDHD1

Cytogenetic location: 14q22.2-q22.3 Genomic coordinates (GRCh38): 14:54,938,949-55,027,099 (from NCBI)

This gene has 5 transcripts (splice variants) and 212 orthologues. Broad expression in testis (RPKM 3.1), lymph node (RPKM 2.6) and 23 other tissues.

功能概要

该基因编码的蛋白质包含多个 N 端 WD40 结构域和一个 C 端高迁移率基团 (HMG) 盒。 WD40 结构域存在于多种真核蛋白质中,可作为信号转导、pre-mRNA 加工和细胞骨架组装中的衔接子/调节模块发挥作用。 HMG 盒存在于许多参与染色质组装、转录和复制的真核蛋白质中。可变剪接导致编码不同异构体的两个转录变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and Cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

WDHD1 基因产物(2)

mRNA Protein Name
NM_001008396.3 NP_001008397.1 WD repeat and HMG-box DNA-binding protein 1 isoform 2
NM_007086.4 NP_009017.1 WD repeat and HMG-box DNA-binding protein 1 isoform 1

WDHD1 蛋白结构

WD40

WD40: WD domain, G-beta repeat (10 - 41)

WD40

WD40: WD domain, G-beta repeat (128 - 163)

eIF2A

eIF2A: Eukaryotic translation initiation factor eIF2A (186 - 283)

Mcl1_mid

Mcl1_mid: Minichromosome loss protein, Mcl1, middle region (532 - 558)

HMG_box

HMG_box: HMG (high mobility group) box (1016 - 1072)

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  • 1129 a.a.
蛋白主名 其他名称

WD repeat and HMG-box DNA-binding protein 1

Acidic nucleoplasmic DNA-binding protein 1

WDHD1 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
Intra WDHD1 O75717 KAT2A Homo sapiens Q92830
Anti Tag CoIP
21725360
Intra WDHD1 O75717 KAT2A Homo sapiens Q92830
Confocal
21725360
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
Warsaw Breakage Syndrome

WABS

WBRS

Roberts-Sc Phocomelia Syndrome

Roberts Syndrome

Sc Phocomelia Syndrome

RBS

Long Bone Deficiencies Associated With Cleft Lip-Palate

Sc Pseudothalidomide Syndrome

Appelt-Gerken-Lenz Syndrome

Pseudothalidomide Syndrome

Tetraphocomelia-Cleft Palate Syndrome

Hypomelia Hypotrichosis Facial Hemangioma Syndrome

Roberts Syndrome/Sc Phocomelia

Roberts Tetraphocomelia Syndrome

Sc Syndrome

Sc Phocomelia

Sc Disease

Sc

Hemoglobin Sc Disease

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

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
Felis catus WDHD1 VGNC VGNC:80782
Mus musculus WDHD1 MGD MGI:2443514
Macaca mulatta WDHD1 VGNC VGNC:79376
Rattus norvegicus WDHD1 RGD RGD:1310200
Bos taurus WDHD1 VGNC VGNC:36878
Canis familiaris WDHD1 VGNC VGNC:48347
Others WDHD1 NCBI