1. Gene
  2. WDR7 - WD repeat domain 7 Gene

WDR7 - WD repeat domain 7 Gene

中文名称:WD 重复域 7

种属: Homo sapiens

同用名: TRAG

基因 ID: 23335 | 基因类型: protein coding

关于 WDR7

Cytogenetic location: 18q21.31 Genomic coordinates (GRCh38): 18:56,651,359-57,036,606 (from NCBI)

This gene has 12 transcripts (splice variants), 212 orthologues and 26 paralogues. Ubiquitous expression in brain (RPKM 12.4), thyroid (RPKM 5.9) and 24 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,可促进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。编码的蛋白形成 rabconnectin-3 的β亚基,直接与 Rab3A GDP/GTP 交换蛋白结合,间接与 Rab3A GDP/GTP 激活蛋白结合;这些蛋白质是 Rab3 小 G 蛋白家族成员的调节剂,参与控制神经递质的钙依赖性胞吐作用。已经描述了编码不同亚型的选择性剪接转录物变体。[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) that 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. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

WDR7 基因产物(4)

mRNA Protein Name
NM_001382485.1 NP_001369414.1 WD repeat-containing protein 7 isoform 2
NM_001382487.1 NP_001369416.1 WD repeat-containing protein 7 isoform 1
NM_015285.3 NP_056100.2 WD repeat-containing protein 7 isoform 1
NM_052834.3 NP_443066.2 WD repeat-containing protein 7 isoform 2

WDR7 蛋白结构

WD40

WD40: WD domain, G-beta repeat (17 - 47)

WD40

WD40: WD domain, G-beta repeat (60 - 95)

WD40

WD40: WD domain, G-beta repeat (454 - 498)

WD40

WD40: WD domain, G-beta repeat (559 - 587)

WD40

WD40: WD domain, G-beta repeat (1388 - 1422)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1490 a.a.
蛋白主名 其他名称

WD repeat-containing protein 7

TGF-beta resistance associated

关联疾病

疾病名称 别名
Retinitis Pigmentosa 4

RP4

Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive

Retinitis Pigmentosa, Rhodopsin-Related

Retinitis Pigmentosa, Type 4

Aleutian Mink Disease

Aleutian Disease

Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome

KTZS

Epilepsy And Yellow Teeth

Kohlschutter Tonz Syndrome

Kohlschutter Syndrome

Epilepsy Dementia Amelogenesis Imperfecta

Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome

Epilepsy, Dementia, And Amelogenesis Imperfecta

Kohlschutter'S Syndrome

Kohlschütter-Tönz Syndrome

Kohlschuetter-Toenz Syndrome

Presenile Dementia

Dementia

Ulcerative Stomatitis

Stomatitis Ulcerative

Aphthous Stomatitis

Minor Oral Aphthous Ulceration

Optic Atrophy 3, Autosomal Dominant

Optic Atrophy 3

OPA3

Autosomal Dominant Optic Atrophy And Cataract

Optic Atrophy And Cataract, Autosomal Dominant

Autosomal Dominant Optic Atrophy Type 3

Optic Atrophy 3 With Cataract

Opa3, Autosomal Dominant

Adoac

Optic Atrophy, Cataract, And Neurologic Disorder

Autosomal Dominant Optic Atrophy 3

Optic Atrophy Type 3

Optic Atrophy 3 Autosomal Dominant

Atrophy, Optic, Type 3, Autosomal Dominant

3-Methylglutaconic Aciduria Type 3

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 WDR7 VGNC VGNC:67049
Macaca mulatta WDR7 VGNC VGNC:78929
Rattus norvegicus WDR7 RGD RGD:619836
Bos taurus WDR7 VGNC VGNC:36914
Canis familiaris WDR7 VGNC VGNC:48383
Mus musculus WDR7 MGD MGI:1860197
Others WDR7 NCBI