AXIN1 Gene Summary [Human]

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]

Details

Type
Retained Intron
Official Symbol
AXIN1
Official Name
axin 1 [Source:HGNC Symbol;Acc:HGNC:903]
Ensembl ID
ENSG00000103126
Bio databases IDs NCBI: 8312 Ensembl: ENSG00000103126
Aliases axin 1, protein phosphatase 1, regulatory subunit 49
Synonyms AXIN, AXIN form I, CMDOH, Fu, fused, Kb, Ki, kinky, knobbly, PPP1R49
Species
Human, Homo sapiens
OrthologiesMouse

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AXIN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SMAD binding
  • Sumoylation motif
  • ATP-binding domain
  • Axin beta-catenin binding motif
  • protein binding activity, bridging
  • coiled-coil domain
  • APC binding domain
  • identical protein binding
  • beta-catenin binding domain
  • DIX domain
  • ubiquitin protein ligase binding
  • protein kinase binding
  • beta-catenin binding
  • enzyme binding
  • Regulator of G protein signaling (RGS) domain superfamily
  • protein domain specific binding
  • protein binding
  • receptor binding
  • Tankyrase binding N-terminal segment of axin
  • p53 binding
  • MEKK1 binding domain
  • Regulator of G protein signaling domain
  • protein kinase activator
  • GSK-3beta binding domain
  • protein homodimerization
  • PP2A-binding domain
  • tyrosine phosphorylation site

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • epithelial cancer
  • epithelial neoplasia
  • cancer
  • plasma cell myeloma
  • non-insulin-dependent diabetes mellitus
  • cardiovascular disorder
  • non-small cell lung cancer
  • non-small cell lung carcinoma
  • osteoporosis
  • abdominal cancer
regulated by
regulates
role in cell
  • expression in
  • phosphorylation in
  • apoptosis
  • differentiation
  • inhibition in
  • activation in
  • proliferation
  • formation
  • formation in
  • expansion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • microtubule cytoskeleton
  • cell periphery
  • perinuclear region
  • cell cortex
  • Nucleus
  • Plasma Membrane
  • vesicles
  • Golgi Apparatus
  • cytosol
  • lateral plasma membrane
  • nucleoli
  • nuclear envelope
  • synapse
  • cytoplasmic vesicles
  • lateral cell-cell contacts
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human AXIN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
  • head development
  • dorsal/ventral axis specification
  • sensory perception of sound
  • axial mesoderm formation
  • nucleocytoplasmic transport
  • in utero embryonic development
  • apoptotic process
  • positive regulation of protein ubiquitination
  • canonical Wnt receptor signaling pathway
  • activation of protein kinase activity
  • negative regulation of protein metabolic process
  • positive regulation of peptidyl-serine phosphorylation
  • macromolecular complex assembly
  • negative regulation of transcription elongation from RNA polymerase II promoter
  • protein polyubiquitination
  • negative regulation of fat cell differentiation
  • positive regulation of protein catabolic process
  • cell development
  • negative regulation of canonical Wnt receptor signaling pathway
  • negative regulation of gene expression
  • proteasomal ubiquitin-dependent protein catabolic process
  • positive regulation of protein kinase activity
  • positive regulation of JNK cascade
  • positive regulation of protein phosphorylation
  • positive regulation of peptidyl-threonine phosphorylation
  • cytoplasmic microtubule organization
  • positive regulation of proteasomal ubiquitin-dependent protein catabolic process
  • positive regulation of transforming growth factor beta receptor signaling pathway

Cellular Component

Where in the cell the gene product is active
  • lateral plasma membrane
  • microtubule cytoskeleton
  • nucleolus
  • plasma membrane
  • beta-catenin destruction complex
  • nucleus
  • perinuclear region of cytoplasm
  • cytoplasm
  • cell cortex
  • cytosol
  • cytoplasmic vesicle
  • cell periphery

Molecular Function

What the gene product does at the molecular level
  • protein kinase binding
  • identical protein binding
  • protein homodimerization activity
  • signaling adaptor activity
  • beta-catenin binding
  • p53 binding
  • ubiquitin protein ligase binding
  • protein binding
  • SMAD binding
  • armadillo repeat domain binding
  • R-SMAD binding
  • I-SMAD binding
  • binding, bridging
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.