1. Gene
  2. DLX1 - distal-less homeobox 1 Gene

DLX1 - distal-less homeobox 1 Gene

中文名称:无远端同源框 1

种属: Homo sapiens

基因 ID: 1745 | 基因类型: protein coding

关于 DLX1

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:172,085,507-172,089,674 (from NCBI)

This gene has 7 transcripts (splice variants), 207 orthologues and 9 paralogues. Biased expression in brain (RPKM 2.1), adrenal (RPKM 1.3) and 5 other tissues.

功能概要

该基因编码同源框转录因子基因家族的一个成员,类似于果蝇 distal-less 基因。编码的蛋白质定位于细胞核,在那里它可以作为来自多个 TGF-β 超家族成员的信号的转录调节剂。编码的蛋白质可能在控制颅面模式以及前脑中抑制性神经元的分化和存活中发挥作用。该基因位于 2 号染色体长臂上的另一个家族成员的尾对尾配置中。已经描述了编码不同亚型的可变剪接转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

DLX1 基因产物(2)

mRNA Protein Name
NM_001038493.2 NP_001033582.1 homeobox protein DLX-1 isoform 2
NM_178120.5 NP_835221.2 homeobox protein DLX-1 isoform 1

DLX1 蛋白结构

Homeobox

Homeobox: Homeobox domain (129 - 185)

  • 0
  • 100
  • 200
  • 255 a.a.
蛋白主名 其他名称

homeobox protein DLX-1

distal-less homeo box 1

关联疾病

疾病名称 别名
Split-Hand/Foot Malformation 5

Split Hand-Foot Malformation 5

SHFM5

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 DLX1 VGNC VGNC:28098
Mus musculus DLX1 MGD MGI:94901
Rattus norvegicus DLX1 RGD RGD:1309593
Felis catus DLX1 VGNC VGNC:107522
Macaca mulatta DLX1 VGNC VGNC:104521
Canis familiaris DLX1 VGNC VGNC:39989