2. Gene
  3. DMXL1 - Dmx like 1 Gene

DMXL1 - Dmx like 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：Dmx 样 1

种属: Homo sapiens

基因 ID: 1657 | 基因类型: protein coding

关于 DMXL1

Cytogenetic location: 5q23.1 Genomic coordinates (GRCh38): 5:119,071,027-119,249,127 (from NCBI)

This gene has 15 transcripts (splice variants), 214 orthologues and 1 paralogue. Ubiquitous expression in prostate (RPKM 16.8), thyroid (RPKM 7.3) and 25 other tissues.

功能概要

该基因编码的蛋白质是 WD 重复蛋白超家族的成员，具有调节功能。该基因在许多组织类型中表达，包括几种类型的眼组织，并且它与眼表型有关。此外，它在过度表达生长因子独立性 1B 的培养细胞中上调，生长因子独立性 1B 是造血细胞发育所必需的转录因子。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 11 月]

The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

DMXL1 基因产物(8)

mRNA Protein Name
NM_001290321.3 NP_001277250.1 dmX-like protein 1 isoform 1
NM_001349239.2 NP_001336168.1 dmX-like protein 1 isoform 1
NM_001349240.2 NP_001336169.1 dmX-like protein 1 isoform 2
NM_001387933.1 NP_001374862.1 dmX-like protein 1 isoform 2
NM_001387934.1 NP_001374863.1 dmX-like protein 1 isoform 4
NM_001387937.1 NP_001374866.1 dmX-like protein 1 isoform 5
NM_001387938.1 NP_001374867.1 dmX-like protein 1 isoform 6
NM_005509.6 NP_005500.4 dmX-like protein 1 isoform 2

DMXL1 蛋白结构

WD40

WD40: WD domain, G-beta repeat (160 - 196)

WD40

WD40: WD domain, G-beta repeat (226 - 267)

Rav1p_C

Rav1p_C: RAVE protein 1 C terminal (1307 - 1823)

WD40

WD40: WD domain, G-beta repeat (2922 - 2956)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 3027 a.a.
蛋白主名 其他名称

dmX-like protein 1

关联疾病

疾病名称 别名
Fleck Retina, Familial Benign

FRFB

Familial Benign Flecked Retina

Familial Benign Fleck Retina
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
Spherocytosis, Type 4

Hereditary Spherocytosis Type 4

SPH4

Hs4

Spherocytosis, Hereditary, 4

Hereditary Spherocytosis 4

Spherocytosis 4
Neutropenia, Severe Congenital, X-Linked

X-Linked Severe Congenital Neutropenia

XLN

SCNX

Severe Congenital Neutropenia X-Linked

Neutropenia, Congenital, Severe, X-Linked
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Christ-Siemens-Touraine Syndrome

XHED

Ectodermal Dysplasia 1

Xlhed

Ed1

Cst Syndrome

Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked

Ectd1

Ectodermal Dysplasia, Anhidrotic, X-Linked

Eda

Eda1

Hed1

Ectodermal Dysplasia 1, Anhidrotic

X-Linked Anhidrotic Ectodermal Dysplasia

X-Linked Hypohidrotic Ectodermal Dysplasia

Hypohidrotic X-Linked Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic, 1

Hypohidrotic Ectodermal Dysplasia, X-Linked

Anhidrotic Ectodermal Dysplasia X-Linked

Hypohidrotic Ectodermal Dysplasia X-Linked

Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked

Ectodermal Dysplasia Anhidrotic
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03836 DMXL1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DMXL1 RGD RGD:1307692
Felis catus DMXL1 VGNC VGNC:61534
Macaca mulatta DMXL1 VGNC VGNC:71935
Canis familiaris DMXL1 VGNC VGNC:40006
Mus musculus DMXL1 MGD MGI:2443926
Bos taurus DMXL1 VGNC VGNC:28117
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