WNT1 (Wnt family member 1)

Gene

• Entrez ID: 7471
• Gene name: Wnt family member 1
• Gene symbol: WNT1
• Synonyms: BMND16, INT1, OI15
• Chromosome: 12
• Chromosome location: 12q13.12
• Summary: The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryog

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907358	G>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001231	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT001231	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT001231	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT001231	hsa-miR-34a-5p	Flow, Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR	19398721
MIRT005718	hsa-let-7e-5p	Flow, Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR	19398721
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT053534	hsa-miR-22-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23851184
MIRT053534	hsa-miR-22-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23851184
MIRT053535	hsa-miR-200b-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23851184
MIRT053535	hsa-miR-200b-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23851184
MIRT054376	hsa-miR-152-3p	Luciferase reporter assay, qRT-PCR, Western blot	24416131
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	28199399
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	28199399
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	28199399
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	28199399
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	26707142
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	26707142
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	27687586
MIRT001231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28199987
MIRT733878	hsa-miR-762	Western blotting	34092606
MIRT733927	mmu-miR-762	Western blotting	34092606
MIRT1493579	hsa-let-7a	CLIP-seq
MIRT1493580	hsa-let-7b	CLIP-seq
MIRT1493581	hsa-let-7c	CLIP-seq
MIRT1493582	hsa-let-7d	CLIP-seq
MIRT1493583	hsa-let-7e	CLIP-seq
MIRT1493584	hsa-let-7f	CLIP-seq
MIRT1493585	hsa-let-7g	CLIP-seq
MIRT1493586	hsa-let-7i	CLIP-seq
MIRT1493587	hsa-miR-1207-5p	CLIP-seq
MIRT1493588	hsa-miR-1321	CLIP-seq
MIRT1493589	hsa-miR-1471	CLIP-seq
MIRT1493590	hsa-miR-1915	CLIP-seq
MIRT1493591	hsa-miR-24	CLIP-seq
MIRT1493592	hsa-miR-3202	CLIP-seq
MIRT1493593	hsa-miR-3612	CLIP-seq
MIRT1493594	hsa-miR-3622b-5p	CLIP-seq
MIRT1493595	hsa-miR-4270	CLIP-seq
MIRT1493596	hsa-miR-4284	CLIP-seq
MIRT1493597	hsa-miR-4419a	CLIP-seq
MIRT1493598	hsa-miR-4441	CLIP-seq
MIRT1493599	hsa-miR-4458	CLIP-seq
MIRT1493600	hsa-miR-4475	CLIP-seq
MIRT1493601	hsa-miR-4476	CLIP-seq
MIRT1493602	hsa-miR-4500	CLIP-seq
MIRT1493603	hsa-miR-4510	CLIP-seq
MIRT1493604	hsa-miR-4722-5p	CLIP-seq
MIRT1493605	hsa-miR-4728-5p	CLIP-seq
MIRT1493606	hsa-miR-4736	CLIP-seq
MIRT1493607	hsa-miR-4739	CLIP-seq
MIRT1493608	hsa-miR-4756-5p	CLIP-seq
MIRT1493609	hsa-miR-4763-3p	CLIP-seq
MIRT1493610	hsa-miR-4768-3p	CLIP-seq
MIRT1493611	hsa-miR-650	CLIP-seq
MIRT1493612	hsa-miR-98	CLIP-seq
MIRT2148783	hsa-miR-4689	CLIP-seq
MIRT2369172	hsa-miR-151-5p	CLIP-seq
MIRT2369173	hsa-miR-151b	CLIP-seq
MIRT2369174	hsa-miR-1827	CLIP-seq
MIRT2369175	hsa-miR-3150b-3p	CLIP-seq
MIRT2148783	hsa-miR-4689	CLIP-seq
MIRT2369176	hsa-miR-4695-5p	CLIP-seq
MIRT2369177	hsa-miR-4784	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000578	Process	Embryonic axis specification	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IEA
GO:0005109	Function	Frizzled binding	IBA	21873635
GO:0005109	Function	Frizzled binding	IC	19756656
GO:0005109	Function	Frizzled binding	NAS	23461676
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005125	Function	Cytokine activity	ISS
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	11793365, 19756656
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007520	Process	Myoblast fusion	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	16501043
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	19778454
GO:0009611	Process	Response to wounding	IEP	17982423
GO:0009986	Component	Cell surface	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IMP	19756656
GO:0010812	Process	Negative regulation of cell-substrate adhesion	IDA	16501043
GO:0016015	Function	Morphogen activity	TAS	24431302
GO:0016055	Process	Wnt signaling pathway	TAS
GO:0019904	Function	Protein domain specific binding	IEA
GO:0021527	Process	Spinal cord association neuron differentiation	IEA
GO:0021536	Process	Diencephalon development	IEA
GO:0021551	Process	Central nervous system morphogenesis	ISS
GO:0021588	Process	Cerebellum formation	ISS
GO:0021797	Process	Forebrain anterior/posterior pattern specification	IEA
GO:0022004	Process	Midbrain-hindbrain boundary maturation during brain development	IEA
GO:0022408	Process	Negative regulation of cell-cell adhesion	IMP	17072303
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IMP	16194878
GO:0030579	Process	Ubiquitin-dependent SMAD protein catabolic process	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030901	Process	Midbrain development	ISS
GO:0031100	Process	Animal organ regeneration	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033278	Process	Cell proliferation in midbrain	IEA
GO:0036520	Process	Astrocyte-dopaminergic neuron signaling	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042770	Process	Signal transduction in response to DNA damage	IDA	16501043
GO:0043066	Process	Negative regulation of apoptotic process	IMP	12154096
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	IDA	12154096
GO:0045165	Process	Cell fate commitment	IBA	21873635
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IDA	16501043
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	10644691
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	19847889
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048018	Function	Receptor ligand activity	IC	19778454
GO:0048018	Function	Receptor ligand activity	IDA	28733458
GO:0048018	Function	Receptor ligand activity	NAS	23461676
GO:0048146	Process	Positive regulation of fibroblast proliferation	IMP	19734317
GO:0048664	Process	Neuron fate determination	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS
GO:0060061	Process	Spemann organizer formation	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	IBA	21873635
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	10644691, 28733458
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	12154096, 19756656, 19778454
GO:0060070	Process	Canonical Wnt signaling pathway	NAS	23461676
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	24431302, 26049140
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0060348	Process	Bone development	IMP	23499309
GO:0061184	Process	Positive regulation of dermatome development	IDA	10654605
GO:0070062	Component	Extracellular exosome	TAS
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IEA
GO:0071425	Process	Hematopoietic stem cell proliferation	IEA
GO:0090344	Process	Negative regulation of cell aging	IDA	16501043
GO:1903204	Process	Negative regulation of oxidative stress-induced neuron death	IEA
GO:1904886	Process	Beta-catenin destruction complex disassembly	TAS
GO:1904953	Process	Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	NAS	23461676
GO:1904953	Process	Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	TAS	24431302
GO:1904954	Process	Canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	TAS	22988876
GO:1990403	Process	Embryonic brain development	IEA
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IEA

Other IDs

• MIM: 164820
• HGNC: 12774
• e!Ensembl: ENSG00000125084

Protein

• UniProt ID: P04628
• Protein name: Proto-oncogene Wnt-1 (Proto-oncogene Int-1 homolog)
• Protein function: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:23656646, PubMed:26902720,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00110	wnt	60 → 370	wnt family	Family

• Sequence:

  MGLWALLPGWVSATLLLALAALPAALAANSSGRWWGIVNVASSTNLLTDSKSLQLVLEPS
  LQLLSRKQRRLIRQNPGILHSVSGGLQSAVRECKWQFRNRRWNCPTAPGPHLFGKIVNRG
  CRETAFIFAITSAGVTHSVARSCSEGSIESCTCDYRRRGPGGPDWHWGGCSDNIDFGRLF
  GREFVDSGEKGRDLRFLMNLHNNEAGRTTVFSEMRQECKCHGMSGSCTVRTCWMRLPTLR
  AVGDVLRDRFDGASRVLYGNRGSNRASRAELLRLEPEDPAHKPPSPHDLVYFEKSPNFCT
  YSGRLGTAGTAGRACNSSSPALDGCELLCCGRGHRTRTQRVTERCNCTFHWCCHVSCRNC
  THTRVLHECL

• Sequence length: 370

Pathways

KEGG:

mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Chemical carcinogenesis - receptor activation
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

TCF dependent signaling in response to WNT
WNT ligand biogenesis and trafficking
PCP/CE pathway
Disassembly of the destruction complex and recruitment of AXIN to the membrane

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Osteogenesis imperfecta	Osteogenesis Imperfecta, Osteogenesis imperfecta type III (disorder), Osteogenesis imperfecta type IV (disorder), OSTEOGENESIS IMPERFECTA, TYPE XV, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	2349931, 23499309, 23499310, 25046257, 23434763, 25046257, 23434763, 28528193, 2349931, 23499310, 23656646, 23499309
Osteoporosis	Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Juvenile osteoporosis, Post-Traumatic Osteoporosis, Idiopathic juvenile osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287	23499309, 23656646, 23499309
Schizencephaly	Schizencephaly	rs2133969658, rs1564751655, rs1411887961, rs755549724, rs387906867
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar hypoplasia	Cerebellar Hypoplasia
Dwarfism	Dwarfism