Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8312
Gene name Gene Name - the full gene name approved by the HGNC.	Axin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AXIN1
Synonyms (NCBI Gene) Gene synonyms aliases	AXIN, CMDOH, PPP1R49
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary 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 bet

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776627	GGGAATGTGAGGTAGGGGCACCCGCCCATTGA>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant

Show/Hide all(42)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018487	hsa-miR-335-5p	Microarray	18185580
MIRT049195	hsa-miR-92a-3p	CLASH	23622248
MIRT044503	hsa-miR-320a	CLASH	23622248
MIRT041736	hsa-miR-484	CLASH	23622248
MIRT039102	hsa-miR-769-3p	CLASH	23622248
MIRT036160	hsa-miR-320c	CLASH	23622248
MIRT441132	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441132	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT812373	hsa-miR-3613-3p	CLIP-seq
MIRT812374	hsa-miR-3691-3p	CLIP-seq
MIRT812375	hsa-miR-4251	CLIP-seq
MIRT812376	hsa-miR-4293	CLIP-seq
MIRT812377	hsa-miR-4324	CLIP-seq
MIRT812378	hsa-miR-4328	CLIP-seq
MIRT812379	hsa-miR-4528	CLIP-seq
MIRT812380	hsa-miR-4699-3p	CLIP-seq
MIRT812381	hsa-miR-4795-3p	CLIP-seq
MIRT812382	hsa-miR-539	CLIP-seq
MIRT812383	hsa-miR-596	CLIP-seq
MIRT812384	hsa-miR-602	CLIP-seq
MIRT812385	hsa-miR-657	CLIP-seq
MIRT1940251	hsa-miR-31	CLIP-seq
MIRT1940252	hsa-miR-4742-5p	CLIP-seq
MIRT1940253	hsa-miR-653	CLIP-seq
MIRT812377	hsa-miR-4324	CLIP-seq
MIRT1940254	hsa-miR-4736	CLIP-seq
MIRT2179166	hsa-miR-1200	CLIP-seq
MIRT2179167	hsa-miR-1321	CLIP-seq
MIRT2179168	hsa-miR-1911	CLIP-seq
MIRT2179169	hsa-miR-2355-5p	CLIP-seq
MIRT2179170	hsa-miR-3689d	CLIP-seq
MIRT812374	hsa-miR-3691-3p	CLIP-seq
MIRT2179171	hsa-miR-3944-3p	CLIP-seq
MIRT812377	hsa-miR-4324	CLIP-seq
MIRT1940254	hsa-miR-4736	CLIP-seq
MIRT2179172	hsa-miR-4739	CLIP-seq
MIRT2179173	hsa-miR-4756-5p	CLIP-seq
MIRT2179174	hsa-miR-544b	CLIP-seq
MIRT2444523	hsa-miR-1205	CLIP-seq
MIRT2444524	hsa-miR-1291	CLIP-seq
MIRT2444525	hsa-miR-3173-5p	CLIP-seq
MIRT2444526	hsa-miR-4650-5p	CLIP-seq

Show/Hide all(102)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0002039	Function	P53 binding	IEA
GO:0005515	Function	Protein binding	IPI	9601641, 10481074, 10644691, 10811618, 11738041, 12192039, 16169070, 16293619, 16601693, 17318175, 17318191, 17510365, 17588722, 17601533, 18786926, 19131971, 19166851, 19202075, 19249679, 19303846, 19390532, 19759537, 20080667, 21057547, 21087614, 21242974, 21245303, 21988832, 2215
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12072559, 21383061
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	12072559, 17569865, 21383061
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0006913	Process	Nucleocytoplasmic transport	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IDA	10644691
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	21087614
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	12072559
GO:0019899	Function	Enzyme binding	IPI	19759537, 21383061, 21478859
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030877	Component	Beta-catenin destruction complex	IBA
GO:0030877	Component	Beta-catenin destruction complex	IDA	9601641, 16188939, 18593713, 19759537
GO:0030877	Component	Beta-catenin destruction complex	IEA
GO:0030877	Component	Beta-catenin destruction complex	NAS	9601641
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IMP	16601693
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16601693, 21478859
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IEA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0035591	Function	Signaling adaptor activity	TAS	21799911
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IBA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	10811618, 16169070, 21245303
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	9601641
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	9601641
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	IC	16188939
GO:0045732	Process	Positive regulation of protein catabolic process	IDA	9601641
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046330	Process	Positive regulation of JNK cascade	ISS
GO:0046332	Function	SMAD binding	IPI	18593713
GO:0048318	Process	Axial mesoderm development	IEA
GO:0048320	Process	Axial mesoderm formation	IEA
GO:0048468	Process	Cell development	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19038973
GO:0051248	Process	Negative regulation of protein metabolic process	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060090	Function	Molecular adaptor activity	IDA	9601641, 21087614
GO:0060322	Process	Head development	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	16601693
GO:0070016	Function	Armadillo repeat domain binding	ISS
GO:0070411	Function	I-SMAD binding	IBA
GO:0070411	Function	I-SMAD binding	IEA
GO:0070411	Function	I-SMAD binding	IPI	16601693, 18593713
GO:0070412	Function	R-SMAD binding	IEA
GO:0071944	Component	Cell periphery	IDA	19038973
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
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	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	22899650
GO:0120283	Function	Protein serine/threonine kinase binding	IPI	18593713
GO:1904885	Process	Beta-catenin destruction complex assembly	IDA	18593713
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IEA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IMP	16601693
GO:1990909	Component	Wnt signalosome	IEA
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IEA
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	ISS

MIM	HGNC	e!Ensembl
603816	903	ENSG00000103126

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, PubMed:28829046). Controls dorsoventral patternin

PDB

1DK8 , 1EMU , 1O9U , 3ZDI , 4B7T , 4NM0 , 4NM3 , 4NM5 , 4NM7 , 4NU1 , 5WZZ , 6JCK , 7SXF , 7SXG , 7SXH , 7SXJ , 7Y1P , 8RU3 , 8RU4 , 8VMG

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

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed.

Sequence

MNIQEQGFPLDLGASFTEDAPRPPVPGEEGELVSTDPRPASYSFCSGKGVGIKGETSTAT
PRRSDLDLGYEPEGSASPTPPYLKWAESLHSLLDDQDGISLFRTFLKQEGCADLLDFWFA
CTGFRKLEPCDSNEEKRLKLARAIYRKYILDNNGIVSRQTKPATKSFIKGCIMKQLIDPA
MFDQAQTEIQATMEENTYPSFLKSDIYLEYTRTGSESPKVCSDQSSGSGTGKGISGYLPT
LNEDEEWKCDQDMDEDDGRDAAPPGRLPQKLLLETAAPRVSSSRRYSEGREFRYGSWREP
VNPYYVNAGYALAPATSANDSEQQSLSSDADTLSLTDSSVDGIPPYRIRKQHRREMQESV
QVNGRVPLPHIPRTYRVPKEVRVEPQKFAEELIHRLEAVQRTREAEEKLEERLKRVRMEE
EGEDGDPSSGPPGPCHKLPPAPAWHHFPPRCVDMGCAGLRDAHEENPESILDEHVQRVLR
TPGRQSPGPGHRSPDSGHVAKMPVALGGAASGHGKHVPKSGAKLDAAGLHHHRHVHHHVH
HSTARPKEQVEAEATRRAQSSFAWGLEPHSHGARSRGYSESVGAAPNASDGLAHSGKVGV
ACKRNAKKAESGKSASTEVPGASEDAEKNQKIMQWIIEGEKEISRHRRTGHGSSGTRKPQ
PHENSRPLSLEHPWAGPQLRTSVQPSHLFIQDPTMPPHPAPNPLTQLEEARRRLEEEEKR
ASRAPSKQRYVQEVMRRGRACVRPACAPVLHVVPAVSDMELSETETRSQRKVGGGSAQPC
DSIVVAYYFCGEPIPYRTLVRGRAVTLGQFKELLTKKGSYRYYFKKVSDEFDCGVVFEEV
REDEAVLPVFEEKIIGKVEKVD

Sequence length

862

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells Cushing syndrome Alzheimer disease Pathways of neurodegeneration - multiple diseases Human papillomavirus infection Pathways in cancer Colorectal cancer Endometrial cancer Basal cell carcinoma Breast cancer Hepatocellular carcinoma Gastric cancer		Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade TCF dependent signaling in response to WNT Degradation of AXIN Disassembly of the destruction complex and recruitment of AXIN to the membrane Misspliced GSK3beta mutants stabilize beta-catenin S33 mutants of beta-catenin aren't phosphorylated S37 mutants of beta-catenin aren't phosphorylated S45 mutants of beta-catenin aren't phosphorylated T41 mutants of beta-catenin aren't phosphorylated APC truncation mutants have impaired AXIN binding AXIN missense mutants destabilize the destruction complex Truncations of AMER1 destabilize the destruction complex Ub-specific processing proteases RUNX1 regulates estrogen receptor mediated transcription RUNX1 regulates transcription of genes involved in WNT signaling Estrogen-dependent gene expression

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
hepatocellular carcinoma	Hepatocellular carcinoma	rs587776627	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Adenoma	colorectal adenoma	N/A	N/A	GenCC
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Caudal Duplication Anomaly	caudal duplication	N/A	N/A	GenCC
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Osteoporosis	Osteoporosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (60)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma Mucinous	Associate	26894286
Adenoma	Inhibit	27462886
Adenoma	Associate	29496310
Adenomatous Polyposis Coli	Associate	18076571, 22761442, 27482906, 28731177, 30072583, 9601641, 9734785
Adenomatous Polyposis Coli	Stimulate	32626748
Alzheimer Disease	Stimulate	39929297
Asthma	Associate	37802634
Asthma	Inhibit	40595623
Bicuspid Aortic Valve Disease	Associate	20098615
Breast Neoplasms	Associate	28055379
Carcinogenesis	Associate	10575011, 12771989, 25502816, 35780128
Carcinoma Adenoid Cystic	Associate	15195113
Carcinoma Hepatocellular	Associate	22524844, 25021421, 25159915, 25822088, 27851986, 31173963, 31514071, 33407585, 33811251, 36517508, 38359148
Carcinoma Non Small Cell Lung	Inhibit	31143301
Carcinoma Non Small Cell Lung	Associate	33506901, 38233113, 39308524
Carcinoma Ovarian Epithelial	Associate	30929455
Cartilage Diseases	Associate	31366320
Cholangiocarcinoma	Inhibit	37832404
Colorectal Neoplasms	Associate	10318916, 23661344, 25222838, 26820603, 26894286, 27462886, 28100566, 28731177, 28865443, 29505855, 31723073, 32958699, 36129915, 9734785
Diabetes Mellitus	Associate	35504843
Double Outlet Right Ventricle	Associate	34204335
Dyskinesias	Associate	34564680
Ectodermal Dysplasia	Associate	21416598
Esophageal Squamous Cell Carcinoma	Associate	12771989
Fever	Inhibit	40595623
Fibromyalgia	Associate	35693781
Gastroesophageal Reflux	Associate	14970870
Heart Defects Congenital	Associate	33096676
Infections	Inhibit	40595623
Inflammation	Associate	35693781
Leukemia Lymphocytic Chronic B Cell	Associate	30038380
Leukemia Lymphoma Adult T Cell	Associate	33562071
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	15306667
Leukoencephalopathies	Associate	34911837
Lung Neoplasms	Inhibit	23192643
Lung Neoplasms	Associate	32051824
Lymphatic Metastasis	Inhibit	12771989
Lymphatic Metastasis	Associate	23192643, 31723073
Medulloblastoma	Associate	33978203
Melanoma	Associate	22234612, 22895053, 23869245, 35561126
Neoplasm Metastasis	Inhibit	16772034
Neoplasms	Inhibit	11500377, 11943708, 12771989, 15082903, 15526030, 19633924, 21087614, 28055379, 32958699, 35561126, 36510340
Neoplasms	Associate	14970870, 16772034, 17897439, 18172167, 22761442, 25526364, 26894286, 30072583, 32761426, 33811251, 36129915, 36510340, 38359148, 39308524
Neoplasms Neuroepithelial	Associate	19633924
Non Muscle Invasive Bladder Neoplasms	Associate	31143301
Osteoporosis	Associate	37380960
Osteosarcoma	Associate	19888226
Parkinson Disease	Associate	38272954
Pneumonia	Inhibit	40595623
Respiratory Tract Infections	Inhibit	40595623
Retinal Dysplasia	Associate	34564680
Squamous Cell Carcinoma of Head and Neck	Associate	21393552, 34564680
Stomach Diseases	Associate	18330950
Stomach Neoplasms	Associate	18330950, 37973999
Thyroid Cancer Papillary	Associate	36510340
Tonsillitis	Inhibit	40595623
Urinary Bladder Neoplasms	Inhibit	31143301
Urinary Bladder Neoplasms	Associate	31143301
Uterine Cervical Neoplasms	Associate	27577083
Warts	Associate	31569353

AXIN1 (axin 1)