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  2. HOXD1 - homeobox D1 Gene

HOXD1 - homeobox D1 Gene

中文名称:同源框 D1

种属: Homo sapiens

同用名: HOX4; HOX4G; Hox-4.7

基因 ID: 3231 | 基因类型: protein coding

关于 HOXD1

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,188,668-176,190,907 (from NCBI)

This gene has 1 transcript (splice variant), 110 orthologues and 42 paralogues. Broad expression in kidney (RPKM 1.7), lung (RPKM 1.6) and 16 other tissues.

功能概要

该基因是 Antp 同源框家族的成员,编码具有同源框 DNA 结合域的蛋白质。这种核蛋白作为参与分化和肢体发育的序列特异性转录因子发挥作用。该基因的突变与前后 (ap) 肢体轴上的严重发育缺陷有关。[RefSeq 提供,2008 年 7 月]

This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008]

HOXD1 基因产物(1)

mRNA Protein Name
NM_024501.3 NP_078777.1 homeobox protein Hox-D1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

HOXD1 蛋白结构

Homeobox

Homeobox: Homeobox domain (233 - 286)

  • 0
  • 100
  • 200
  • 300
  • 328 a.a.
蛋白主名 其他名称

homeobox protein Hox-D1

homeo box 4G

关联疾病

疾病名称 别名
Synpolydactyly

Syndactyly Type 2

Syndactyly, Type 2

Spd

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

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
Mus musculus HOXD1 MGD MGI:96201
Rattus norvegicus HOXD1 RGD RGD:1309179
Macaca mulatta HOXD1 VGNC VGNC:104536
Bos taurus HOXD1 VGNC VGNC:29929
Canis familiaris HOXD1 VGNC VGNC:41761
Felis catus HOXD1 VGNC VGNC:107557