LOCUS       NM_012188               2321 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.
ACCESSION   NM_012188
VERSION     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  (bases 1 to 2321)
  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  (bases 1 to 2321)
  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  (bases 1 to 2321)
  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  (bases 1 to 2321)
  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  (bases 1 to 2321)
  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  (bases 1 to 2321)
  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  (bases 1 to 2321)
  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  (bases 1 to 2321)
  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  (bases 1 to 2321)
  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 (bases 1 to 2321)
  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 Nov 22, 2018 this sequence version replaced NM_012188.4.
            
            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##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AC008660.5         2152-2167
            17-635              BC029778.1         1-619
            636-2312            AC008660.5         4304-5980
            2313-2321           AC008660.5         5981-5989
FEATURES             Location/Qualifiers
     source          1..2321
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..2321
                     /gene="FOXI1"
                     /gene_synonym="FKH10; FKHL10; FREAC-6; FREAC6; HFH-3;
                     HFH3"
                     /note="forkhead box I1"
                     /db_xref="GeneID:2299"
                     /db_xref="HGNC:HGNC:3815"
                     /db_xref="MIM:601093"
     exon            1..635
                     /gene="FOXI1"
                     /gene_synonym="FKH10; FKHL10; FREAC-6; FREAC6; HFH-3;
                     HFH3"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..1198
                     /gene="FOXI1"
                     /gene_synonym="FKH10; FKHL10; FREAC-6; FREAC6; HFH-3;
                     HFH3"
                     /note="isoform a is encoded by transcript variant 1;
                     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"
                     /codon_start=1
                     /product="forkhead box protein I1 isoform a"
                     /protein_id="NP_036320.2"
                     /db_xref="CCDS:CCDS4372.1"
                     /db_xref="GeneID:2299"
                     /db_xref="HGNC:HGNC:3815"
                     /db_xref="MIM:601093"
                     /translation="MSSFDLPAPSPPRCSPQFPSIGQEPPEMNLYYENFFHPQGVPSP
                     QRPSFEGGGEYGATPNPYLWFNGPTMTPPPYLPGPNASPFLPQAYGVQRPLLPSVSGL
                     GGSDLGWLPIPSQEELMKLVRPPYSYSALIAMAIHGAPDKRLTLSQIYQYVADNFPFY
                     NKSKAGWQNSIRHNLSLNDCFKKVPRDEDDPGKGNYWTLDPNCEKMFDNGNFRRKRKR
                     KSDVSSSTASLALEKTESSLPVDSPKTTEPQDILDGASPGGTTSSPEKRPSPPPSGAP
                     CLNSFLSSMTAYVSGGSPTSHPLVTPGLSPEPSDKTGQNSLTFNSFSPLTNLSNHSGG
                     GDWANPMPTNMLSYGGSVLSQFSPHFYNSVNTSGVLYPREGTEV"
     exon            636..2321
                     /gene="FOXI1"
                     /gene_synonym="FKH10; FKHL10; FREAC-6; FREAC6; HFH-3;
                     HFH3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2294..2299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXI1"
                     /gene_synonym="FKH10; FKHL10; FREAC-6; FREAC6; HFH-3;
                     HFH3"
                     /note="hexamer: ATTAAA"
     polyA_site      2321
                     /gene="FOXI1"
                     /gene_synonym="FKH10; FKHL10; FREAC-6; FREAC6; HFH-3;
                     HFH3"
                     /note="major polyA site"
ORIGIN      
        1 gtcaggggca gctccggggt gcaggtgcca ggcaggtggc tccggccagc ccagccccag
       61 catgagctcc ttcgacctgc cggcgccctc cccacctcgc tgcagccccc agttccccag
      121 catcggccag gagccccccg agatgaacct ctactatgag aacttcttcc acccacaggg
      181 cgtgcccagc cctcagcggc cctccttcga ggggggcggc gagtatgggg ccacccccaa
      241 cccctacctc tggttcaacg ggcccaccat gaccccgcca ccctacctgc ccggccccaa
      301 cgccagcccc ttcctgcccc aggcctatgg agtgcagagg ccgctgctgc ccagcgtgtc
      361 ggggcttggg gggagcgacc tgggctggct gcccatcccc tcgcaggagg agctgatgaa
      421 gctggtgcgg ccaccctatt cctactcggc tctcatcgcc atggccatcc acggggcacc
      481 cgacaagcgc ctcactctca gccagatcta ccagtacgtg gccgacaact tccccttcta
      541 caacaagagc aaggccggct ggcagaactc catccgccac aacctgtcgc tcaacgactg
      601 cttcaagaag gtgccccgcg acgaggacga cccgggcaaa gggaattact ggaccctgga
      661 ccccaactgt gagaaaatgt tcgacaatgg aaatttccgc aggaaaagga agagaaaatc
      721 agatgtttcc tctagcacag cctccttggc cttagagaag acagagagca gtctcccggt
      781 ggacagcccc aagaccacgg agcctcagga catcttggat ggagcctcac cagggggcac
      841 caccagctcc ccagagaagc ggccctcccc tcccccatca ggcgcccctt gccttaacag
      901 cttcctttcc tctatgacag cctatgtgag cggggggagc cccacgagcc accccttggt
      961 cacaccagga ctgagccctg agcccagtga caagacgggg cagaactcac tgaccttcaa
     1021 ctccttctcc ccgctcacca acctcagcaa ccacagcggt gggggtgact gggcgaaccc
     1081 catgcccacc aacatgctca gctatggagg atctgtgctc agccaattca gccctcactt
     1141 ctacaacagt gtcaacacca gtggtgtcct ctaccccagg gagggcaccg aggtctaggt
     1201 acagaacagc tcctgagcca ggtggacatg ccagagagaa aagcagtaga ggtcctccat
     1261 gccagcccca cggtggtcca tgactgcgga actgcccaga cataagcagg agcctccgag
     1321 gaatccaccc tctttctaga acactggtta aggcttctgt ttatcacaca taggcccaca
     1381 cacagactca ccaactttgc aatagaaata ctggtgcctg cagagcagca ctaacagtgg
     1441 caggtgctgt actaggctct gtactggcca cacttactat tgacagtcac cccgtaaggt
     1501 tcacaaacca ccccattgaa cagatgagga actgaggctc aaggaggtta agtaacattt
     1561 ccagggttat ataaactagt aaatggcaga gctaagagtc aaatccaggt ctatgtgatc
     1621 ctcagagatt ggaggccggg atggagaatt ggttgagtag ccaaggaagg tcagtgtgaa
     1681 aagcttgcta tggcaaatat agcgaaatct ctccactgcc ttctgtccac caacatttag
     1741 tgccagccta ggcacaactt gtcctggtcc aagtccttat tctgcttgcc ccaacttacc
     1801 tgcagacact ccttttgcta ccactcaagg aaggaagtca ccagtggcct tagtgcagga
     1861 aactcagccc tggtggccct gcagaacaat gcatctgaca tgtgcgatgc atccccatgg
     1921 agagacagca ttgctcccca gccctccaga aaccttgagc agatccaggg atcagtgaga
     1981 ggagtggtgt gtacccctaa atcctcccac cccagcactg cccatctgta aaatcttgta
     2041 aagcccagtt tcctgtgtgc atgtcatgga ccagtgagct ggagatggct gaatcttcca
     2101 agagaaacaa ggttggataa gcgcttcctt ttttttagcc caggagaggt ggatgtttgt
     2161 ctgagaaaac aatggcctca agggaggggc cttgggccca ccctcacagg gggtctctgt
     2221 gtgatctctt gggatttctc cttgtttttg tgagtacctg ggaagtgttg tttgttttct
     2281 tattttcttt ttaattaaaa aacaaacaaa catgtggtgc a
//
