1. Gene
  2. WDR5 - WD repeat domain 5 Gene

WDR5 - WD repeat domain 5 Gene

中文名称:WD 重复域 5

种属: Homo sapiens

同用名: BIG3; SWD3; BIG-3; CFAP89

基因 ID: 11091 | 基因类型: protein coding

关于 WDR5

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:134,135,199-134,159,968 (from NCBI)

This gene has 3 transcripts (splice variants), 171 orthologues and 26 paralogues. Ubiquitous expression in testis (RPKM 24.2), skin (RPKM 8.5) and 25 other tissues.

功能概要

该基因编码 WD 重复蛋白家族的一个成员。 WD 重复是大约 40 个氨基酸的最小保守区域,通常由 gly-his 和 trp-asp (GH-WD) 括起来,这可能有助于异源三聚体或多蛋白复合物的形成。该家族的成员参与多种细胞过程,包括细胞周期进程、信号转导、细胞凋亡和基因调控。该蛋白质包含 7 个 WD 重复序列。已经鉴定出编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 Amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, Apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

WDR5 基因产物(13)

mRNA Protein Name
NM_001384409.1 NP_001371338.1 WD repeat-containing protein 5 isoform 1
NM_001384410.1 NP_001371339.1 WD repeat-containing protein 5 isoform 1
NM_001384411.1 NP_001371340.1 WD repeat-containing protein 5 isoform 1
NM_001384412.1 NP_001371341.1 WD repeat-containing protein 5 isoform 1
NM_001384413.1 NP_001371342.1 WD repeat-containing protein 5 isoform 1
NM_001384414.1 NP_001371343.1 WD repeat-containing protein 5 isoform 1
NM_001384415.1 NP_001371344.1 WD repeat-containing protein 5 isoform 1
NM_001384416.1 NP_001371345.1 WD repeat-containing protein 5 isoform 2
NM_001384417.1 NP_001371346.1 WD repeat-containing protein 5 isoform 3
NM_001384418.1 NP_001371347.1 WD repeat-containing protein 5 isoform 4
NM_001384419.1 NP_001371348.1 WD repeat-containing protein 5 isoform 4
NM_017588.3 NP_060058.1 WD repeat-containing protein 5 isoform 1
NM_052821.4 NP_438172.1 WD repeat-containing protein 5 isoform 1

WDR5 蛋白结构

WD40

WD40: WD domain, G-beta repeat (38 - 72)

WD40

WD40: WD domain, G-beta repeat (78 - 115)

WD40

WD40: WD domain, G-beta repeat (119 - 157)

WD40

WD40: WD domain, G-beta repeat (161 - 199)

WD40

WD40: WD domain, G-beta repeat (204 - 242)

WD40

WD40: WD domain, G-beta repeat (246 - 287)

WD40

WD40: WD domain, G-beta repeat (292 - 331)

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  • 334 a.a.
蛋白主名 其他名称

WD repeat-containing protein 5

BMP2-induced 3-kb gene protein

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 33

Primary Ciliary Dyskinesia 33

CILD33

Ciliary Dyskinesia, Primary, 33, Without Situs Inversus

Primary Ciliary Dyskinesia 33 Without Situs Inversus

Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Kleefstra Syndrome

9q34.3 Microdeletion Syndrome

9q Subtelomeric Deletion Syndrome

9q- Syndrome

Chromosome 9q Deletion Syndrome

9q34.3 Deletion Syndrome

9qstds

Chromosome 9q34.3 Deletion Syndrome

Chromosome 9, Trisomy 9q

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Macaca mulatta WDR5 VGNC VGNC:103886
Felis catus WDR5 VGNC VGNC:67039
Bos taurus WDR5 VGNC VGNC:58619
Canis familiaris WDR5 VGNC VGNC:48373
Mus musculus WDR5 MGD MGI:2155884
Rattus norvegicus WDR5 RGD RGD:1305159