FOXI1 - forkhead box I1 Gene

Also Known as HFH3; FKH10; HFH-3; FKHL10; FREAC6; FREAC-6

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 2299

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	19214237	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	19214237	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	19214237	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	19214237	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FOXI1 Protein Structure

Forkhead

0
100
200
300
378 a.a.

Protein Preferred Names	Protein Names
forkhead box protein I1	HNF-3/fork-head homolog-3

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS05053	FOXI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	FOXI1	NCBI