Seroatlas · Human Serome Atlas

AXIN1

Axin-1

Also known as: AXIN1_HUMAN, PPP1R49

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O15169
Gene: AXIN1
Ensembl: ENSG00000103126
Chromosome: 16
Canonical length: 862 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoli,Vesicles,Primary cilium
Quaternary structure: Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

862 residues, UniProt reviewed canonical sequence.

>O15169|AXIN1
     1  MNIQEQGFPL DLGASFTEDA PRPPVPGEEG ELVSTDPRPA SYSFCSGKGV GIKGETSTAT
    61  PRRSDLDLGY EPEGSASPTP PYLKWAESLH SLLDDQDGIS LFRTFLKQEG CADLLDFWFA
   121  CTGFRKLEPC DSNEEKRLKL ARAIYRKYIL DNNGIVSRQT KPATKSFIKG CIMKQLIDPA
   181  MFDQAQTEIQ ATMEENTYPS FLKSDIYLEY TRTGSESPKV CSDQSSGSGT GKGISGYLPT
   241  LNEDEEWKCD QDMDEDDGRD AAPPGRLPQK LLLETAAPRV SSSRRYSEGR EFRYGSWREP
   301  VNPYYVNAGY ALAPATSAND SEQQSLSSDA DTLSLTDSSV DGIPPYRIRK QHRREMQESV
   361  QVNGRVPLPH IPRTYRVPKE VRVEPQKFAE ELIHRLEAVQ RTREAEEKLE ERLKRVRMEE
   421  EGEDGDPSSG PPGPCHKLPP APAWHHFPPR CVDMGCAGLR DAHEENPESI LDEHVQRVLR
   481  TPGRQSPGPG HRSPDSGHVA KMPVALGGAA SGHGKHVPKS GAKLDAAGLH HHRHVHHHVH
   541  HSTARPKEQV EAEATRRAQS SFAWGLEPHS HGARSRGYSE SVGAAPNASD GLAHSGKVGV
   601  ACKRNAKKAE SGKSASTEVP GASEDAEKNQ KIMQWIIEGE KEISRHRRTG HGSSGTRKPQ
   661  PHENSRPLSL EHPWAGPQLR TSVQPSHLFI QDPTMPPHPA PNPLTQLEEA RRRLEEEEKR
   721  ASRAPSKQRY VQEVMRRGRA CVRPACAPVL HVVPAVSDME LSETETRSQR KVGGGSAQPC
   781  DSIVVAYYFC GEPIPYRTLV RGRAVTLGQF KELLTKKGSY RYYFKKVSDE FDCGVVFEEV
   841  REDEAVLPVF EEKIIGKVEK VD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AXIN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 22 nTPM
skeletal muscle: 20 nTPM
skin: 19 nTPM
cerebellum: 17 nTPM
colon: 16 nTPM
esophagus: 16 nTPM

Single-cell type

nk-cells: 91 nCPM
extravillous trophoblasts: 78 nCPM
neutrophil progenitors: 74 nCPM
neutrophils: 61 nCPM
megakaryocytes: 56 nCPM
epicardial cells: 50 nCPM

Immune cell

gdT-cell: 8.4 nTPM
MAIT T-cell: 7.6 nTPM
memory CD8 T-cell: 5.7 nTPM
eosinophil: 5 nTPM
NK-cell: 3.5 nTPM
naive CD8 T-cell: 3.4 nTPM

Brain region

cerebellum: 25 nTPM
white matter: 19 nTPM
cerebral cortex: 17 nTPM
amygdala: 16 nTPM
basal ganglia: 16 nTPM
medulla oblongata: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AXIN1.

Disease | AllUniProt

Conditions AXIN1 is implicated in, by any mechanism.

Hepatocellular carcinoma (HCC) MIM:114550
Caudal duplication anomaly (CADUA) MIM:607864
Craniometadiaphyseal osteosclerosis with hip dysplasia (CMDOH) MIM:620558

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 179 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Craniometadiaphyseal osteosclerosis with hip dysplasia
Hepatocellular carcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.4
gnomAD pLI: 0.41
gnomAD missense Z: 1.01
DepMap mean gene effect: 0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AXIN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AXIN1 as an antibody target. Whether an autoantibody or antibody against AXIN1 could matter depends on whether native AXIN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AXIN1 is annotated at the cell surface, where native AXIN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label AXIN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...