Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8312 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Axin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
AXIN1 |
SynonymsGene synonyms aliases
|
AXIN, PPP1R49 |
ChromosomeChromosome number
|
16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
SNPsSNP information provided by dbSNP.
|
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001934 |
Process |
Positive regulation of protein phosphorylation |
IDA |
9601641 |
GO:0005515 |
Function |
Protein binding |
IPI |
9601641, 10481074, 10644691, 11738041, 12192039, 16169070, 16293619, 16601693, 17318175, 17318191, 17510365, 17588722, 17601533, 18786926, 19131971, 19166851, 19202075, 19249679, 19303846, 19390532, 19759537, 20080667, 21057547, 21242974, 21245303, 21988832, 22153077, 22682247, 2277 |
GO:0005634 |
Component |
Nucleus |
IDA |
12072559, 21383061 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
12072559, 17569865, 21383061 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006915 |
Process |
Apoptotic process |
IEA |
|
GO:0007275 |
Process |
Multicellular organism development |
IEA |
|
GO:0008013 |
Function |
Beta-catenin binding |
IDA |
10644691 |
GO:0010800 |
Process |
Positive regulation of peptidyl-threonine phosphorylation |
NAS |
18593713 |
GO:0016055 |
Process |
Wnt signaling pathway |
TAS |
|
GO:0016328 |
Component |
Lateral plasma membrane |
IDA |
12072559 |
GO:0019899 |
Function |
Enzyme binding |
IPI |
19759537, 21383061, 21478859 |
GO:0019901 |
Function |
Protein kinase binding |
ISS |
|
GO:0030111 |
Process |
Regulation of Wnt signaling pathway |
TAS |
|
GO:0030159 |
Function |
Signaling receptor complex adaptor activity |
IMP |
16601693 |
GO:0030877 |
Component |
Beta-catenin destruction complex |
IDA |
9601641, 16188939, 19759537 |
GO:0031398 |
Process |
Positive regulation of protein ubiquitination |
NAS |
18593713 |
GO:0031410 |
Component |
Cytoplasmic vesicle |
ISS |
|
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
16601693, 21478859 |
GO:0032147 |
Process |
Activation of protein kinase activity |
IDA |
9601641 |
GO:0033138 |
Process |
Positive regulation of peptidyl-serine phosphorylation |
NAS |
18593713 |
GO:0033146 |
Process |
Regulation of intracellular estrogen receptor signaling pathway |
TAS |
|
GO:0034622 |
Process |
Cellular protein-containing complex assembly |
IDA |
16601693 |
GO:0035591 |
Function |
Signaling adaptor activity |
TAS |
21799911 |
GO:0042802 |
Function |
Identical protein binding |
IPI |
16169070, 21245303 |
GO:0042802 |
Function |
Identical protein binding |
ISS |
|
GO:0042803 |
Function |
Protein homodimerization activity |
ISS |
|
GO:0045732 |
Process |
Positive regulation of protein catabolic process |
IC |
16188939 |
GO:0045732 |
Process |
Positive regulation of protein catabolic process |
IDA |
9601641 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IMP |
16601693 |
GO:0046330 |
Process |
Positive regulation of JNK cascade |
ISS |
|
GO:0046332 |
Function |
SMAD binding |
IPI |
18593713 |
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IDA |
19038973 |
GO:0051443 |
Process |
Positive regulation of ubiquitin-protein transferase activity |
IMP |
16601693 |
GO:0060090 |
Function |
Molecular adaptor activity |
IDA |
9601641 |
GO:0060090 |
Function |
Molecular adaptor activity |
IMP |
16601693 |
GO:0070016 |
Function |
Armadillo repeat domain binding |
ISS |
|
GO:0070411 |
Function |
I-SMAD binding |
IPI |
16601693, 18593713 |
GO:0071944 |
Component |
Cell periphery |
IDA |
19038973 |
GO:0090090 |
Process |
Negative regulation of canonical Wnt signaling pathway |
IC |
9601641 |
GO:0090090 |
Process |
Negative regulation of canonical Wnt signaling pathway |
IDA |
10644691 |
GO:0090090 |
Process |
Negative regulation of canonical Wnt signaling pathway |
IMP |
22899650 |
GO:0090263 |
Process |
Positive regulation of canonical Wnt signaling pathway |
TAS |
|
GO:1904885 |
Process |
Beta-catenin destruction complex assembly |
TAS |
|
GO:1904886 |
Process |
Beta-catenin destruction complex disassembly |
TAS |
|
GO:2000060 |
Process |
Positive regulation of ubiquitin-dependent protein catabolic process |
ISS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
O15169 |
Protein name |
Axin-1 (Axis inhibition protein 1) (hAxin) |
Protein function |
Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling (PubMed:12192039, PubMed:27098453). Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos by activating a Wnt-independent JNK signaling pathway (PubMed:12192039). In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B (PubMed:12192039). Likely to function as a tumor suppressor. Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7 (PubMed:16601693). Also component of the AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development (PubMed:17210684). Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation (PubMed:17210684). |
PDB |
1DK8
,
1EMU
,
1O9U
,
3ZDI
,
4B7T
,
4NM0
,
4NM3
,
4NM5
,
4NM7
,
4NU1
,
5WZZ
,
6JCK
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF16646 |
AXIN1_TNKS_BD |
8 → 80 |
Axin-1 tankyrase binding domain |
Disordered |
PF00615 |
RGS |
88 → 210 |
Regulator of G protein signaling domain |
Domain |
PF08833 |
Axin_b-cat_bind |
465 → 498 |
Axin beta-catenin binding motif |
Motif |
PF00778 |
DIX |
781 → 860 |
DIX domain |
Family |
|
Sequence |
|
Sequence length |
862 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Colorectal cancer |
Adenocarcinoma of large intestine |
rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208 |
|
Hepatoblastoma |
Hepatoblastoma |
rs137854578, rs28934573, rs121913412 |
|
Medulloblastoma |
Medulloblastoma |
rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009 |
|
Endometrial carcinoma |
Carcinoma in situ of endometrium, Endometrial Carcinoma |
rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cardiovascular diseases |
Cardiovascular Diseases |
|
30595370 |
Caudal duplication anomaly |
Caudal Duplication Anomaly |
|
|
Congenital duplication of uterus |
Congenital duplication of uterus |
|
|
Double ureter |
Double ureter |
|
|
Endometrial cancer |
Malignant neoplasm of endometrium |
|
|
Liver carcinoma |
Liver carcinoma, Adult Hepatocellular Carcinoma, Adult hepatocellular carcinoma |
|
12101426, 25822088, 10700176 |
Micronodular cirrhosis |
Micronodular cirrhosis |
|
|
Prostate adenocarcinoma |
Adenocarcinoma of prostate |
|
|
|
|
|