STOX1 (storkhead box 1)

Gene

• Entrez ID: 219736
• Gene name: Storkhead box 1
• Gene symbol: STOX1
• Synonyms: C10orf24
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [prov

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1341667	T>A,C,G	Risk-factor	Coding sequence variant, missense variant
rs10509305	A>C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017203	hsa-miR-335-5p	Microarray	18185580
MIRT733171	hsa-miR-365a-3p	Microarray, qRT-PCR	32743775
MIRT1399110	hsa-miR-1272	CLIP-seq
MIRT1399111	hsa-miR-1322	CLIP-seq
MIRT1399112	hsa-miR-3152-3p	CLIP-seq
MIRT1399113	hsa-miR-654-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	22253775
GO:0001650	Component	Fibrillar center	IDA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	22253775
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	22253775
GO:0005813	Component	Centrosome	IDA	22253775
GO:0005829	Component	Cytosol	IDA
GO:0007049	Process	Cell cycle	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	22253775
GO:0010468	Process	Regulation of gene expression	IMP	24738702
GO:0010628	Process	Positive regulation of gene expression	IMP	22253775
GO:0010629	Process	Negative regulation of gene expression	IMP	22253775
GO:0010800	Process	Positive regulation of peptidyl-threonine phosphorylation	IMP	22995177
GO:0010821	Process	Regulation of mitochondrion organization	IMP	24738702
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	IMP	22253775
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	22995177
GO:0051301	Process	Cell division	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	24738702
GO:0061418	Process	Regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	24738702
GO:0071500	Process	Cellular response to nitrosative stress	IMP	24738702
GO:1901858	Process	Regulation of mitochondrial DNA metabolic process	IMP	24738702
GO:1902882	Process	Regulation of response to oxidative stress	IMP	24738702
GO:1904031	Process	Positive regulation of cyclin-dependent protein kinase activity	IMP	22253775, 22995177

Other IDs

• MIM: 609397
• HGNC: 23508
• e!Ensembl: ENSG00000165730

Protein

• UniProt ID: Q6ZVD7
• Protein name: Storkhead-box protein 1 (Winged-helix domain-containing protein)
• Protein function: Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta (PubMed:24738702). Required for regulation of inner ear epithelial cell proliferation via the AKT sign
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10264	Stork_head	111 → 189	Winged helix Storkhead-box1 domain	Family

• Sequence:

  MARPVQLAPGSLALVLCRLEAQKAAGAAEEPGGRAVFRAFRRANARCFWNARLARAASRL
  AFQGWLRRGVLLVRAPPACLQVLRDAWRRRALRPPRGFRIRAVGDVFPVQMNPITQSQFV
  PLGEVLCCAISDMNTAQIVVTQESLLERLMKHYPGIAIPSEDILYTTLGTLIKERKIYHT
  GEGYFIVTPQTYFITNTTTQENKRMLPSDESRLMPASMTYLVSMESCAESAQENAAPISH
  CQSCQCFRDMHTQDVQEAPVAAEVTRKSHRGLGESVSWVQNGAVSVSAEHHICESTKPLP
  YTRDKEKGKKFGFSLLWRSLSRKEKPKTEHSSFSAQFPPEEWPVRDEDDLDNIPRDVEHE
  IIKRINPILTVDNLIKHTVLMQKYEEQKKYNSQGTSTDMLTIGHKYPSKEGVKKRQGLSA
  KPQGQGHSRRDRHKARNQGSEFQPGSIRLEKHPKLPATQPIPRIKSPNEMVGQKPLGEIT
  TVLGSHLIYKKRISNPFQGLSHRGSTISKGHKIQKTSDLKPSQTGPKEKPFQKPRSLDSS
  RIFDGKAKEPYAEQPNDKMEAESIYINDPTVKPINDDFRGHLFSHPQQSMLQNDGKCCPF
  MESMLRYEVYGGENEVIPEVLRKSHSHFDKLGETKQTPHSLPSRGASFSDRTPSACRLVD
  NTIHQFQNLGLLDYPVGVNPLRQAARQDKDSEELLRKGFVQDAETTSLENEQLSNDDQAL
  YQNEVEDDDGACSSLYLEEDDISENDDLRQMLPGHSQYSFTGGSQGNHLGKQKVIERSLT
  EYNSTMERVESQVLKRNECYKPTGLHATPGESQEPNLSAESCGLNSGAQFGFNYEEEPSV
  AKCVQASAPADERIFDYYSARKASFEAEVIQDTIGDTGKKPASWSQSPQNQEMRKHFPQK
  FQLFNTSHMPVLAQDVQYEHSHLEGTENHSMAGDSGIDSPRTQSLGSNNSVILDGLKRRQ
  NFLQNVEGTKSSQPLTSNSLLPLTPVINV

• Sequence length: 989

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hypertension	Hypertensive disease	rs13306026, rs13333226
Kidney disease	Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Preeclampsia/eclampsia	Preeclampsia Eclampsia 4	rs1341667, rs387906894, rs387906895	15806103

Unknown
Disease name	Disease term	dbSNP ID	References
Dyssomnia	Dyssomnias
Eclampsia	Eclampsia
Polycystic ovary syndrome	Polycystic Ovary Syndrome
Preeclampsia	Preeclampsia	rs1553354646, rs1555628672
Sleep disorders	Sleep Disorders