1. Gene
  2. HOXB1 - homeobox B1 Gene

HOXB1 - homeobox B1 Gene

中文名称:同源盒 B1

种属: Homo sapiens

同用名: HOX2; HCFP3; HOX2I; Hox-2.9

基因 ID: 3211 | 基因类型: protein coding

关于 HOXB1

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,528,526-48,531,011 (from NCBI)

This gene has 2 transcripts (splice variants), 187 orthologues, 42 paralogues and is associated with 3 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,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 17 号染色体簇中的几个同源框 HOXB 基因之一。[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, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]

HOXB1 基因产物(1)

mRNA Protein Name
NM_002144.4 NP_002135.2 homeobox protein Hox-B1
基因本体论
  • 分子功能
  • 生物过程
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
9556594 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

HOXB1 蛋白结构

Homeobox

Homeobox: Homeobox domain (207 - 260)

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

homeobox protein Hox-B1

homeobox protein Hox-2I

关联疾病

疾病名称 别名
Facial Paresis, Hereditary Congenital, 3

HCFP3

Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome

Congenital Hereditary Facial Palsy With Variable Deafness

Congenital Hereditary Facial Palsy With Variable Hearing Loss

Congenital Hereditary Facial Paralysis With Variable Deafness

Congenital Hereditary Facial Paralysis-Variable Deafness Syndrome

Athabaskan Brainstem Dysgenesis Syndrome

Bosley-Salih-Alorainy Syndrome

Navajo Brainstem Syndrome

ABDS

Human Hoxa1 Syndromes

BSAS

Athabaskan Brainstem Dysgenesis

Bosley Salih Alorainy Syndrome

Absd

Athabascan Brainstem Dysgenesis Syndrome

Narvajo Brainstem Syndrome

Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome

Preaxial Deficiency, Postaxial Polydactyly And Hypospadias

Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome

GUTTS

Facial Nerve Disease

Facial Nerve Disorder

Facial Nerve Diseases

Neuropathy Of Facial Nerve

Disorders Of 7th Cranial Nerve

Disorders Of The Seventh Cranial Nerve

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Facial Paralysis

Facial Palsy

Bell Palsy

Bell'S Palsy

Bell Palsy

Facial Nerve Palsy

Facial Palsy

Facial Paralysis

Bell'S Palsy

Antoni'S Palsy

Facial Cranial Nerve Paralysis

Idiopathic Facial Palsy

Refrigeration Palsy

Facial Nerve Paralysis

Seventh Cranial Nerve Paralysis

Face Paralysis Nos

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome

Hfgs

Hfg Syndrome

Hfu Syndrome

HFG

Hfu

Hand Foot Uterus Syndrome

Hand Foot Genital Syndrome

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

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 HOXB1 MGD MGI:96182
Felis catus HOXB1 VGNC VGNC:67621
Macaca mulatta HOXB1 VGNC VGNC:73504
Rattus norvegicus HOXB1 RGD RGD:1310298
Canis familiaris HOXB1 VGNC VGNC:41749
Bos taurus HOXB1 VGNC VGNC:29916
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