2. Gene
  3. FOXI1 - forkhead box I1 Gene

FOXI1 - forkhead box I1 Gene

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

中文名称：叉头盒 I1

种属: Homo sapiens

同用名: HFH3; FKH10; HFH-3; FKHL10; FREAC6; FREAC-6

基因 ID: 2299 | 基因类型: protein coding

关于 FOXI1

Cytogenetic location: 5q35.1 Genomic coordinates (GRCh38): 5:170,105,897-170,109,737 (from NCBI)

This gene has 2 transcripts (splice variants), 222 orthologues, 4 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 10.3), salivary gland (RPKM 2.7) and 1 other tissue.

功能概要

该基因属于转录因子的叉头家族，其特点是具有独特的叉头结构域。该基因可能在耳蜗和前庭的发育以及胚胎发生中发挥重要作用。已发现编码的蛋白质是在内耳、肾脏和附睾中发现的质子泵的四个亚基转录所必需的。该基因的突变与耳聋、常染色体隐性遗传 4 有关。[RefSeq 提供，2017 年 1 月]

This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a Proton Pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]

FOXI1 基因产物(2)

mRNA Protein Name
NM_012188.5 NP_036320.2 forkhead box protein I1 isoform a
NM_144769.4 NP_658982.1 forkhead box protein I1 isoform b
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
19214237 GOA
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
19214237 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
19214237 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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
19214237 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

FOXI1 蛋白结构

Forkhead

Forkhead: Forkhead domain (123 - 218)

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

forkhead box protein I1

HNF-3/fork-head homolog-3

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct

DFNB4

Neurosensory Nonsyndromic Recessive Deafness 4

Enlarged Vestibular Aqueduct Syndrome

Nsrd4

Autosomal Recessive Nonsyndromic Deafness 4

Dilated Vestibular Aqueduct

Dva

Enlarged Vestibular Aqueduct, Digenic

Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct

Large Vestibular Aqueduct Syndrome

Deafness, Autosomal Recessive, 4

Deafness Neurosensory Autosomal Recessive 4

Eva

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4

Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Pendred Syndrome

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss

Autosomal Recessive Distal Renal Tubular Acidosis

Autosomal Recessive Distal Rta

Renal Tubular Acidosis, Distal, Autosomal Recessive

DRTA3

Rtadr

Ar Drta

Distal Renal Tubular Acidosis 3, With Or Without Sensorineural Hearing Loss

Renal Tubular Acidosis, Distal, Autosomal Recessive, With Late-Onset Sensorineural Hearing Loss, Included

Rta, Distal, Autosomal Recessive

Renal Tubular Acidosis, Autosomal Recessive With Preserved Hearing

Distal Renal Tubular Acidosis With Late-Onset Sensorineural Hearing Loss

Distal Renal Tubular Acidosis With Preserved Hearing

Acidosis, Tubular, Renal, Distal, Autosomal Recessive
Inner Ear Disease

Labyrinthine Dysfunction

Diseases Of Inner Ear

Labyrinthine Disease

Abnormality Of The Inner Ear

Labyrinth Diseases

Labyrinthine Disorder

Nonfunctioning Labyrinth

Labyrinthine Loss Of Function

Labyrinthine Syndrome

Labyrinthine Disorder Nos
Vestibular Disease

Vestibular Diseases

Vertigo, Vestibular Disorder

Vestibular Disorder

Diseases Of Inner Ear
Renal Tubular Acidosis

Acidosis Renal Tubular

Acidosis, Renal Tubular

Lightwood-Albright Syndrome

Lightwood Syndrome

Idiopathic Infantile Hypercalcemia - Mild Form

Kidney Tubular Acidosis

Renal Tubule Acidosis

Kidney Acidosis

Renal Acidosis

Renal Hyperchloremic Acidosis

Rta - [Renal Tubular Acidosis]
Deafness, Autosomal Recessive 15

DFNB15

Dfnb72

Dfnb95

Deafness, Autosomal Recessive 72

Autosomal Recessive Nonsyndromic Deafness 15

Deafness, Autosomal Recessive 95

Autosomal Recessive Deafness 15

Autosomal Recessive Deafness 72

Autosomal Recessive Deafness 95

Deafness, Autosomal Recessive, 15

Deafness Autosomal Recessive 72

Deafness Autosomal Recessive 95

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15

Deafness, Autosomal Recessive, Type 15
Renal Oncocytoma

Oncocytoma, Renal

Oncocytoma Of Kidney

Renal Epithelial Oncocytic Tumor

Oncocytoma Kidney

Oncocytoma Renal

Kidney Oncocytoma
Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens

CBAVD

Cavd

Congenital Bilateral Aplasia Of Vas Deferens

Congenital Bilateral Absence Of The Vas Deferens

Congenital Bilateral Agenesis Of Vas Deferens

Absence Of Vas Deferens

Absent Vasa

Congenital Absence Of Vas Deferens

Congenital Aplasia Of Vas Deferens

Absent Vas Deferens

Vas Deferens, Congenital Bilateral Absence
Branchiootic Syndrome

Bo Syndrome

Branchiootic Dysplasia

Bor

Bo Syndrome 1

Bos1

Branchiootic Syndrome 1
Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome

Bor Syndrome

Branchiootorenal Dysplasia

Melnick-Fraser Syndrome

Branchiootorenal Spectrum Disorders

Branchio-Otorenal Dysplasia

Branchio Oto Renal Syndrome

Branchiootorenal/Branchiootic Syndrome

Bo Syndrome

Bor

Bos

Branchio-Otorenal Syndrome

Branchiootic Syndrome

Branchiootorenal Syndrome

Branchiootic Syndrome 1
Auditory System Disease

Ear Diseases

Ear And Mastoid Disease
Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic
Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
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-RS05053 FOXI1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus FOXI1 RGD RGD:1307421
Bos taurus FOXI1 VGNC VGNC:29087
Felis catus FOXI1 VGNC VGNC:62335
Mus musculus FOXI1 MGD MGI:1096329
Canis familiaris FOXI1 VGNC VGNC:40951
Macaca mulatta FOXI1 VGNC VGNC:72700
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