• Gene id: 8312

Gene Summary

• Gene Symbol: AXIN1   Gene   UCSC   Ensembl
• Aliases: AXIN, PPP1R49
• Gene name: axin 1
• Alternate names: axin-1, axis inhibition protein 1, axis inhibitor 1, fused, mouse, homolog of, protein phosphatase 1, regulatory subunit 49,
• Gene location: 16p13.3 (355225: 287439)     Exons: 24     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 603816

SNPs

rs370681

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.342461C>T
NC_000016.9   g.392461C>T
NG_012267.1   g.15004G>A|SEQ=[C/T]|GENE=AXIN1

rs1805105

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.346264A>G
NC_000016.9   g.396264A>G
NG_012267.1   g.11201T>C
NM_003502.4   c.762T>C
NM_003502.3   c.762T>C
NM_181050.3   c.762T>C
NM_181050.2   c.762T>C
NR_134879.2   n.1198T>C
NR_134879.1   n.1151T>C
XM_011522682.2   c.909T>C
XM_011522683.2   c.909T>C
XM  

Protein Summary

• Protein general information: O15169  
  • Name: Axin 1 (Axis inhibition protein 1) (hAxin)
  • Length: 862  
  • Mass: 95635
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MNIQEQGFPLDLGASFTEDAPRPPVPGEEGELVSTDPRPASYSFCSGKGVGIKGETSTATPRRSDLDLGYEPEGS
  ASPTPPYLKWAESLHSLLDDQDGISLFRTFLKQEGCADLLDFWFACTGFRKLEPCDSNEEKRLKLARAIYRKYIL
  DNNGIVSRQTKPATKSFIKGCIMKQLIDPAMFDQAQTEIQATMEENTYPSFLKSDIYLEYTRTGSESPKVCSDQS
  SGSGTGKGISGYLPTLNEDEEWKCDQDMDEDDGRDAAPPGRLPQKLLLETAAPRVSSSRRYSEGREFRYGSWREP
  VNPYYVNAGYALAPATSANDSEQQSLSSDADTLSLTDSSVDGIPPYRIRKQHRREMQESVQVNGRVPLPHIPRTY
  RVPKEVRVEPQKFAEELIHRLEAVQRTREAEEKLEERLKRVRMEEEGEDGDPSSGPPGPCHKLPPAPAWHHFPPR
  CVDMGCAGLRDAHEENPESILDEHVQRVLRTPGRQSPGPGHRSPDSGHVAKMPVALGGAASGHGKHVPKSGAKLD
  AAGLHHHRHVHHHVHHSTARPKEQVEAEATRRAQSSFAWGLEPHSHGARSRGYSESVGAAPNASDGLAHSGKVGV
  ACKRNAKKAESGKSASTEVPGASEDAEKNQKIMQWIIEGEKEISRHRRTGHGSSGTRKPQPHENSRPLSLEHPWA
  GPQLRTSVQPSHLFIQDPTMPPHPAPNPLTQLEEARRRLEEEEKRASRAPSKQRYVQEVMRRGRACVRPACAPVL
  HVVPAVSDMELSETETRSQRKVGGGSAQPCDSIVVAYYFCGEPIPYRTLVRGRAVTLGQFKELLTKKGSYRYYFK
  KVSDEFDCGVVFEEVREDEAVLPVFEEKIIGKVEKVD

• Structural information:
  • Protein Domains: (88..21-)
    (/note="RGS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00171-)
    (780..86-)
    (/note="DIX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00069"-)
  • Interpro: IPR029797  IPR014936  IPR032101  IPR001158  IPR038207   IPR016137  IPR036305  IPR024066  IPR029071  
  • Prosite: PS50841 PS50132
  • CDD: cd11582
  • PDB: 1DK8 1EMU 1O9U 3ZDI 4B7T 4NM0 4NM3 4NM5 4NM7 4NU1 5WZZ 6JCK
  • PDBsum: 1DK8 1EMU 1O9U 3ZDI 4B7T 4NM0 4NM3 4NM5 4NM7 4NU1 5WZZ 6JCK
  • DIP: 34630
  • STRING: ENSP00000262320
• Other Databases: GeneCards:  AXIN1  Malacards:  AXIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0030877	beta-catenin destruction complex	IEA	cellular component
GO:0046330	positive regulation of JNK cascade	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016328	lateral plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0030111	regulation of Wnt signaling pathway	TAS	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0016055	Wnt signaling pathway	TAS	biological process
GO:0033146	regulation of intracellular estrogen receptor signaling pathway	TAS	biological process
GO:1904885	beta-catenin destruction complex assembly	TAS	biological process
GO:1904886	beta-catenin destruction complex disassembly	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035591	signaling adaptor activity	IMP	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0070016	armadillo repeat domain binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	ISS	molecular function
GO:0060090	molecular adaptor activity	IMP	molecular function
GO:0042802	identical protein binding	ISS	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0070411	I-SMAD binding	IPI	molecular function
GO:0070411	I-SMAD binding	IPI	molecular function
GO:0045732	positive regulation of protein catabolic process	IC	biological process
GO:0045732	positive regulation of protein catabolic process	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0071944	cell periphery	IDA	cellular component
GO:0035591	signaling adaptor activity	TAS	molecular function
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0030877	beta-catenin destruction complex	IDA	cellular component
GO:0030877	beta-catenin destruction complex	IDA	cellular component
GO:0032147	activation of protein kinase activity	IDA	biological process
GO:0034622	cellular protein-containing complex assembly	IDA	biological process
GO:0031410	cytoplasmic vesicle	ISS	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0051443	positive regulation of ubiquitin-protein transferase activity	IMP	biological process
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	NAS	biological process
GO:0031398	positive regulation of protein ubiquitination	NAS	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	NAS	biological process
GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IC	biological process
GO:0030877	beta-catenin destruction complex	IDA	cellular component
GO:0030877	beta-catenin destruction complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0046330	positive regulation of JNK cascade	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa05165	Human papillomavirus infection
hsa04310	Wnt signaling pathway
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04934	Cushing syndrome
hsa05226	Gastric cancer
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05224	Breast cancer
hsa05210	Colorectal cancer
hsa05217	Basal cell carcinoma
hsa05213	Endometrial cancer

Diseases

Associated diseases	References
Medulloblastoma	KEGG:H01667
Hepatocellular carcinoma	KEGG:H00048
Caudal duplication anomaly	KEGG:H00934
Medulloblastoma	KEGG:H01667
Hepatocellular carcinoma	KEGG:H00048
Caudal duplication anomaly	KEGG:H00934
hepatocellular carcinoma	PMID:10700176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq