FOXI1

Protein identityUniProt · HPA

UniProt accession

Q12951

Gene

FOXI1

Ensembl

ENSG00000168269

Chromosome

5

Canonical length

378 aa

Protein class

Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoli,Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

378 residues, UniProt reviewed canonical sequence.

>Q12951|FOXI1
     1  MSSFDLPAPS PPRCSPQFPS IGQEPPEMNL YYENFFHPQG VPSPQRPSFE GGGEYGATPN
    61  PYLWFNGPTM TPPPYLPGPN ASPFLPQAYG VQRPLLPSVS GLGGSDLGWL PIPSQEELMK
   121  LVRPPYSYSA LIAMAIHGAP DKRLTLSQIY QYVADNFPFY NKSKAGWQNS IRHNLSLNDC
   181  FKKVPRDEDD PGKGNYWTLD PNCEKMFDNG NFRRKRKRKS DVSSSTASLA LEKTESSLPV
   241  DSPKTTEPQD ILDGASPGGT TSSPEKRPSP PPSGAPCLNS FLSSMTAYVS GGSPTSHPLV
   301  TPGLSPEPSD KTGQNSLTFN SFSPLTNLSN HSGGGDWANP MPTNMLSYGG SVLSQFSPHF
   361  YNSVNTSGVL YPREGTEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FOXI1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.63

Highest tissue expression

36 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FOXI1.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 228 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 4
• Hearing impairment
• Sensorineural hearing loss disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.51

gnomAD pLI

0.77

gnomAD missense Z

0.73

DepMap mean gene effect

0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• cell differentiation
• embryo development ending in birth or egg hatching
• inner ear morphogenesis
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA binding, bending
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• nucleolus
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Fork head domain
• Fork head domain conserved site1
• Fork head domain conserved site 2
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• Forkhead box domain-containing protein
• Forkhead domain

KeywordsUniProt

• Activator
• DNA-binding
• Nucleus
• Transcription
• Transcription regulation