FOXQ1_HUMAN
ID FOXQ1_HUMAN Reviewed; 403 AA.
AC Q9C009; Q9NS06;
DT 27-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Forkhead box protein Q1;
DE AltName: Full=HNF-3/forkhead-like protein 1;
DE Short=HFH-1;
DE AltName: Full=Hepatocyte nuclear factor 3 forkhead homolog 1;
GN Name=FOXQ1; Synonyms=HFH1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, AND VARIANTS PRO-60
RP AND PRO-61.
RX PubMed=11747606; DOI=10.1089/104454901317094963;
RA Bieller A., Pasche B., Frank S., Glaeser B., Kunz J., Witt K., Zoll B.;
RT "Isolation and characterization of the human forkhead gene FOXQ1.";
RL DNA Cell Biol. 20:555-561(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=11309849; DOI=10.1002/gene.1020;
RA Hong H.-K., Noveroske J.K., Headon D.J., Liu T., Sy M.S., Justice M.J.,
RA Chakravarti A.;
RT "The winged helix/forkhead transcription factor Foxq1 regulates
RT differentiation of hair in satin mice.";
RL Genesis 29:163-171(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS PRO-60 AND PRO-61.
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Plays a role in hair follicle differentiation. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
CC -!- TISSUE SPECIFICITY: Expressed predominantly in the stomach, trachea,
CC bladder and salivary gland. {ECO:0000269|PubMed:11747606}.
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DR EMBL; AF225950; AAK00639.1; -; Genomic_DNA.
DR EMBL; AF153341; AAF75586.1; -; Genomic_DNA.
DR EMBL; BC053850; AAH53850.1; -; mRNA.
DR CCDS; CCDS4471.1; -.
DR RefSeq; NP_150285.3; NM_033260.3.
DR AlphaFoldDB; Q9C009; -.
DR SMR; Q9C009; -.
DR BioGRID; 125147; 137.
DR IntAct; Q9C009; 137.
DR MINT; Q9C009; -.
DR STRING; 9606.ENSP00000296839; -.
DR iPTMnet; Q9C009; -.
DR PhosphoSitePlus; Q9C009; -.
DR BioMuta; FOXQ1; -.
DR DMDM; 143811391; -.
DR jPOST; Q9C009; -.
DR MassIVE; Q9C009; -.
DR MaxQB; Q9C009; -.
DR PaxDb; Q9C009; -.
DR PeptideAtlas; Q9C009; -.
DR PRIDE; Q9C009; -.
DR ProteomicsDB; 79939; -.
DR Antibodypedia; 9198; 475 antibodies from 31 providers.
DR CPTC; Q9C009; 2 antibodies.
DR DNASU; 94234; -.
DR Ensembl; ENST00000296839.5; ENSP00000296839.2; ENSG00000164379.7.
DR GeneID; 94234; -.
DR KEGG; hsa:94234; -.
DR MANE-Select; ENST00000296839.5; ENSP00000296839.2; NM_033260.4; NP_150285.3.
DR UCSC; uc003mtl.5; human.
DR CTD; 94234; -.
DR DisGeNET; 94234; -.
DR GeneCards; FOXQ1; -.
DR HGNC; HGNC:20951; FOXQ1.
DR HPA; ENSG00000164379; Tissue enhanced (stomach, urinary bladder).
DR MIM; 612788; gene.
DR neXtProt; NX_Q9C009; -.
DR OpenTargets; ENSG00000164379; -.
DR PharmGKB; PA134924898; -.
DR VEuPathDB; HostDB:ENSG00000164379; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000162937; -.
DR HOGENOM; CLU_055457_0_0_1; -.
DR InParanoid; Q9C009; -.
DR OMA; AYGMGEP; -.
DR OrthoDB; 1270467at2759; -.
DR PhylomeDB; Q9C009; -.
DR TreeFam; TF316127; -.
DR PathwayCommons; Q9C009; -.
DR SignaLink; Q9C009; -.
DR SIGNOR; Q9C009; -.
DR BioGRID-ORCS; 94234; 17 hits in 1095 CRISPR screens.
DR ChiTaRS; FOXQ1; human.
DR GenomeRNAi; 94234; -.
DR Pharos; Q9C009; Tbio.
DR PRO; PR:Q9C009; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9C009; protein.
DR Bgee; ENSG00000164379; Expressed in parotid gland and 151 other tissues.
DR Genevisible; Q9C009; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0031069; P:hair follicle morphogenesis; IEA:Ensembl.
DR GO; GO:0043524; P:negative regulation of neuron apoptotic process; IMP:ARUK-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00059; FH; 1.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR001766; Fork_head_dom.
DR InterPro; IPR018122; TF_fork_head_CS_1.
DR InterPro; IPR030456; TF_fork_head_CS_2.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR Pfam; PF00250; Forkhead; 1.
DR PRINTS; PR00053; FORKHEAD.
DR SMART; SM00339; FH; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS00657; FORK_HEAD_1; 1.
DR PROSITE; PS00658; FORK_HEAD_2; 1.
DR PROSITE; PS50039; FORK_HEAD_3; 1.
PE 2: Evidence at transcript level;
KW DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..403
FT /note="Forkhead box protein Q1"
FT /id="PRO_0000091890"
FT DNA_BIND 119..214
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 1..75
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 94..116
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 216..266
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 226..248
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 60
FT /note="T -> P (in dbSNP:rs9502889)"
FT /evidence="ECO:0000269|PubMed:11747606,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_031606"
FT VARIANT 61
FT /note="Q -> P (in dbSNP:rs9502890)"
FT /evidence="ECO:0000269|PubMed:11747606,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_031607"
FT CONFLICT 49..52
FT /note="NSPA -> KPS (in Ref. 2; AAF75586)"
FT /evidence="ECO:0000305"
FT CONFLICT 386
FT /note="S -> L (in Ref. 2; AAF75586)"
FT /evidence="ECO:0000305"
FT CONFLICT 395
FT /note="P -> S (in Ref. 2; AAF75586)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 403 AA; 41526 MW; 0709E0A6A0AE2174 CRC64;
MKLEVFVPRA AHGDKQGSDL EGAGGSDAPS PLSAAGDDSL GSDGDCAANS PAAGGGARDT
QGDGEQSAGG GPGAEEAIPA AAAAAVVAEG AEAGAAGPGA GGAGSGEGAR SKPYTRRPKP
PYSYIALIAM AIRDSAGGRL TLAEINEYLM GKFPFFRGSY TGWRNSVRHN LSLNDCFVKV
LRDPSRPWGK DNYWMLNPNS EYTFADGVFR RRRKRLSHRA PVPAPGLRPE EAPGLPAAPP
PAPAAPASPR MRSPARQEER ASPAGKFSSS FAIDSILRKP FRSRRLRDTA PGTTLQWGAA
PCPPLPAFPA LLPAAPCRAL LPLCAYGAGE PARLGAREAE VPPTAPPLLL APLPAAAPAK
PLRGPAAGGA HLYCPLRLPA ALQAASVRRP GPHLPYPVET LLA
