LOCUS       NP_036320                378 aa            linear   PRI 09-FEB-2025
DEFINITION  forkhead box protein I1 isoform a [Homo sapiens].
ACCESSION   NP_036320
VERSION     NP_036320.2
DBSOURCE    REFSEQ: accession NM_012188.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 378)
  AUTHORS   AitRaise,I., Amalou,G., Bakhchane,A., Bousfiha,A., Abdelghaffar,H.,
            Majida,C., Bonnet,C., Petit,C. and Barakat,A.
  TITLE     Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated
            with Non-syndromic Deafness in Moroccan Families
  JOURNAL   Biochem Genet 62 (3), 1914-1924 (2024)
   PUBMED   37777971
  REMARK    GeneRIF: Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes
            Associated with Non-syndromic Deafness in Moroccan Families.
REFERENCE   2  (residues 1 to 378)
  AUTHORS   Huang,L.H., Zhao,X.L., Cheng,X.H., Yu,Y.D., Wen,C., Li,Y.,
            Wang,X.L., Wang,X.Y., Ruan,Y. and En,H.
  TITLE     [Analysis of genotypes on 850 newborns with SLC26A4 single-allele
            mutation and the phenotypes of those with second variant]
  JOURNAL   Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 58 (2), 117-125
            (2023)
   PUBMED   36748152
  REMARK    GeneRIF: [Analysis of genotypes on 850 newborns with SLC26A4
            single-allele mutation and the phenotypes of those with second
            variant].
REFERENCE   3  (residues 1 to 378)
  AUTHORS   Klarov,L.A., Pshennikova,V.G., Romanov,G.P., Cherdonova,A.M.,
            Solovyev,A.V., Teryutin,F.M., Luginov,N.V., Kotlyarov,P.M. and
            Barashkov,N.A.
  TITLE     Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients
            with Incomplete Partition of the Cochlea and Enlarged Vestibular
            Aqueduct (EVA) Anomalies
  JOURNAL   Int J Mol Sci 23 (23), 15372 (2022)
   PUBMED   36499699
  REMARK    GeneRIF: Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in
            Patients with Incomplete Partition of the Cochlea and Enlarged
            Vestibular Aqueduct (EVA) Anomalies.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 378)
  AUTHORS   Li,J., Kang,H. and Kong,X.
  TITLE     [Diagnosis of a Chinese pedigree affected with autosomal recessive
            deafness 4 with enlarged vestibular aqueduct due to compound
            heterozygous variants of FOXI1 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39 (10), 1080-1084 (2022)
   PUBMED   36184087
  REMARK    GeneRIF: [Diagnosis of a Chinese pedigree affected with autosomal
            recessive deafness 4 with enlarged vestibular aqueduct due to
            compound heterozygous variants of FOXI1 gene].
REFERENCE   5  (residues 1 to 378)
  AUTHORS   Overdier,D.G., Ye,H., Peterson,R.S., Clevidence,D.E. and Costa,R.H.
  TITLE     The winged helix transcriptional activator HFH-3 is expressed in
            the distal tubules of embryonic and adult mouse kidney
  JOURNAL   J Biol Chem 272 (21), 13725-13730 (1997)
   PUBMED   9153225
REFERENCE   6  (residues 1 to 378)
  AUTHORS   Larsson,C., Hellqvist,M., Pierrou,S., White,I., Enerback,S. and
            Carlsson,P.
  TITLE     Chromosomal localization of six human forkhead genes, freac-1
            (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8
            (FKHL12)
  JOURNAL   Genomics 30 (3), 464-469 (1995)
   PUBMED   8825632
REFERENCE   7  (residues 1 to 378)
  AUTHORS   Pierrou,S., Hellqvist,M., Samuelsson,L., Enerback,S. and
            Carlsson,P.
  TITLE     Cloning and characterization of seven human forkhead proteins:
            binding site specificity and DNA bending
  JOURNAL   EMBO J 13 (20), 5002-5012 (1994)
   PUBMED   7957066
REFERENCE   8  (residues 1 to 378)
  AUTHORS   Clevidence,D.E., Overdier,D.G., Tao,W., Qian,X., Pani,L., Lai,E.
            and Costa,R.H.
  TITLE     Identification of nine tissue-specific transcription factors of the
            hepatocyte nuclear factor 3/forkhead DNA-binding-domain family
  JOURNAL   Proc Natl Acad Sci U S A 90 (9), 3948-3952 (1993)
   PUBMED   7683413
REFERENCE   9  (residues 1 to 378)
  AUTHORS   Alexander,R.T., Law,L., Gil-Pena,H., Greenbaum,L.A. and Santos,F.
  TITLE     Hereditary Distal Renal Tubular Acidosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31600044
REFERENCE   10 (residues 1 to 378)
  AUTHORS   Smith,R.J.H., Azaiez,H. and Odell,A.M.
  TITLE     SLC26A4-Related Sensorineural Hearing Loss
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301640
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008660.5 and BC029778.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 27, 2002 this sequence version replaced NP_036320.1.
            
            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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292176.1, L13203.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306268.8/ ENSP00000304286.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..378
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     Protein         1..378
                     /product="forkhead box protein I1 isoform a"
                     /note="forkhead-related activator 6; forkhead-like 10;
                     hepatocyte nuclear factor 3 forkhead homolog 3;
                     HNF-3/fork-head homolog-3; forkhead box protein I1;
                     forkhead-related protein FKHL10; forkhead-related
                     transcription factor 6"
                     /calculated_mol_wt=40842
     Region          1..26
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12951.3)"
     Region          120..219
                     /region_name="FH_FOXI1"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     I1 (FOXI1) and similar proteins; cd20053"
                     /db_xref="CDD:410827"
     Site            order(128,146..147,150,169..170,172..173,176,183,193..195,
                     197)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410827"
     Region          208..278
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12951.3)"
     CDS             1..378
                     /gene="FOXI1"
                     /gene_synonym="FKH10; FKHL10; FREAC-6; FREAC6; HFH-3;
                     HFH3"
                     /coded_by="NM_012188.5:62..1198"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS4372.1"
                     /db_xref="GeneID:2299"
                     /db_xref="HGNC:HGNC:3815"
                     /db_xref="MIM:601093"
ORIGIN      
        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
//
