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  2. HOXC11 - homeobox C11 Gene

HOXC11 - homeobox C11 Gene

中文名称:同源框 C11

种属: Homo sapiens

同用名: HOX3H

基因 ID: 3227 | 基因类型: protein coding

关于 HOXC11

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,973,126-53,977,643 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues, 42 paralogues and is associated with 41 phenotypes. Low expression observed in reference dataset.

功能概要

该基因属于同源盒基因家族。同源框基因编码一个高度保守的转录因子家族,在所有多细胞生物的形态发生中起着重要作用。哺乳动物拥有 4 个相似的同源盒基因簇 HOXA、HOXB、HOXC 和 HOXD,它们分别位于不同的染色体上,由 9~11 个串联排列的基因组成。该基因是位于 12 号染色体簇中的几个同源框 HOXC 基因之一。该基因的产物与乳糖酶-根皮苷水解酶的启动子元件结合。它还可能在早期肠道发育中发挥作用。已经描述了编码较短同种型的可变剪接变体,但尚未确定其全长性质。[RefSeq 提供,2008 年 7 月]

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]

HOXC11 基因产物(1)

mRNA Protein Name
NM_014212.4 NP_055027.1 homeobox protein Hox-C11
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
9582375 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
9582375 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23275563 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9582375 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

HOXC11 蛋白结构

DUF3528

DUF3528: Protein of unknown function (DUF3528) (42 - 178)

Homeobox

Homeobox: Homeobox domain (233 - 289)

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

homeobox protein Hox-C11

homeo box C11

HOXC11 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra HOXC11 O43248 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
Intra HOXC11 O43248 FGFR3 Homo sapiens P22607
Y2H Array
32814053
Intra HOXC11 O43248 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
Intra HOXC11 O43248 HRAS Homo sapiens P01112
Y2H Pooling
32814053
Intra HOXC11 O43248 HRAS Homo sapiens P01112
Validated Y2H
32814053
Intra HOXC11 O43248 HRAS Homo sapiens P01112
Y2H Array
32814053
Intra HOXC11 O43248 PSMA1 Homo sapiens P25786
Validated Y2H
32296183
Intra HOXC11 O43248 HTT Homo sapiens P42858
Y2H Pooling
32814053
Intra HOXC11 O43248 HTT Homo sapiens P42858
Y2H Prey Pooling
23275563
Intra HOXC11 O43248 HTT Homo sapiens P42858
Validated Y2H
32814053
Intra HOXC11 O43248 HTT Homo sapiens P42858
Y2H Array
32814053
Intra HOXC11 O43248 PMP22 Homo sapiens A0A6Q8PF08
Validated Y2H
32814053
Intra HOXC11 O43248 PMP22 Homo sapiens A0A6Q8PF08
Y2H Pooling
32814053
Intra HOXC11 O43248 PMP22 Homo sapiens A0A6Q8PF08
Y2H Array
32814053
Intra HOXC11 O43248 TRIP10 Homo sapiens Q15642-2
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Ectodermal Dysplasia 4, Hair/Nail Type

Pure Hair And Nail Ectodermal Dysplasia

ECTD4

Ectodermal Dysplasia, Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair/Nail Type

Hned

Hair-Nail Ectodermal Dysplasia

Phned

Ectodermal Dysplasia Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair-Nail Type

Dysplasia, Ectodermal, Type 4, Hair/Nail

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
Rattus norvegicus HOXC11 RGD RGD:6489991
Canis familiaris HOXC11 VGNC VGNC:57427
Macaca mulatta HOXC11 VGNC VGNC:99942
Felis catus HOXC11 VGNC VGNC:84030
Bos taurus HOXC11 VGNC VGNC:56207
Mus musculus HOXC11 MGD MGI:96193