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Protein

APC membrane recruitment protein 1

Gene

AMER1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development.5 Publications

Miscellaneous

Inactivated in approximately one-third of Wilms tumors.

GO - Molecular functioni

  • beta-catenin binding Source: UniProtKB
  • beta-catenin destruction complex binding Source: ParkinsonsUK-UCL
  • phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB

GO - Biological processi

  • adipose tissue development Source: Ensembl
  • anatomical structure development Source: GO_Central
  • beta-catenin destruction complex assembly Source: Reactome
  • beta-catenin destruction complex disassembly Source: Reactome
  • bone development Source: Ensembl
  • mesenchymal cell differentiation involved in kidney development Source: Ensembl
  • negative regulation of canonical Wnt signaling pathway Source: UniProtKB
  • positive regulation of canonical Wnt signaling pathway Source: UniProtKB
  • positive regulation of cellular protein catabolic process Source: ParkinsonsUK-UCL
  • positive regulation of protein ubiquitination Source: ParkinsonsUK-UCL
  • regulation of canonical Wnt signaling pathway Source: UniProtKB
  • Wnt signaling pathway Source: Reactome

Keywordsi

Biological processWnt signaling pathway
LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-195253 Degradation of beta-catenin by the destruction complex
R-HSA-196299 Beta-catenin phosphorylation cascade
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-5339716 Misspliced GSK3beta mutants stabilize beta-catenin
R-HSA-5358747 S33 mutants of beta-catenin aren't phosphorylated
R-HSA-5358749 S37 mutants of beta-catenin aren't phosphorylated
R-HSA-5358751 S45 mutants of beta-catenin aren't phosphorylated
R-HSA-5358752 T41 mutants of beta-catenin aren't phosphorylated
R-HSA-5467337 APC truncation mutants have impaired AXIN binding
R-HSA-5467340 AXIN missense mutants destabilize the destruction complex
R-HSA-5467348 Truncations of AMER1 destabilize the destruction complex
SIGNORiQ5JTC6

Names & Taxonomyi

Protein namesi
Recommended name:
APC membrane recruitment protein 1
Short name:
Amer1
Alternative name(s):
Protein FAM123B
Wilms tumor gene on the X chromosome protein
Gene namesi
Name:AMER1
Synonyms:FAM123B, WTX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000184675.9
HGNCiHGNC:26837 AMER1
MIMi300647 gene
neXtProtiNX_Q5JTC6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Osteopathia striata with cranial sclerosis (OSCS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, facial palsy, conductive hearing loss, mild learning disabilities, sclerosis of the long bones and skull. Longitudinal striations are visible on radiographs of the long bones, pelvis, and scapulae (osteopathia striata). In males this entity is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations.
See also OMIM:300373

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi54K → A: Abolishes interaction with PtdIns(4,5)P2 and cell membrane localization; when associated with A-58; A-79; A-83; A-166; A-181 and A-183. 1 Publication1
Mutagenesisi58K → A: Abolishes interaction with PtdIns(4,5)P2 and cell membrane localization; when associated with A-54; A-79; A-83; A-166; A-181 and A-183. 1 Publication1
Mutagenesisi79K → A: Abolishes interaction with PtdIns(4,5)P2 and cell membrane localization; when associated with A-54; A-58; A-83; A-166; A-181 and A-183. 1 Publication1
Mutagenesisi83K → A: Abolishes interaction with PtdIns(4,5)P2 and cell membrane localization; when associated with A-54; A-58; A-79; A-166; A-181 and A-183. 1 Publication1
Mutagenesisi166K → A: Abolishes interaction with PtdIns(4,5)P2 and cell membrane localization; when associated with A-54; A-58; A-79; A-83; A-181 and A-183. 1 Publication1
Mutagenesisi181K → A: Abolishes interaction with PtdIns(4,5)P2 and cell membrane localization; when associated with A-54; A-58; A-79; A-83; A-166 and A-183. 1 Publication1
Mutagenesisi183K → A: Abolishes interaction with PtdIns(4,5)P2 and cell membrane localization; when associated with A-54; A-58; A-79; A-83; A-166 and A-181. 1 Publication1

Organism-specific databases

DisGeNETi139285
MalaCardsiAMER1
MIMi300373 phenotype
OpenTargetsiENSG00000184675
Orphaneti2780 Osteopathia striata - cranial sclerosis
PharmGKBiPA145148904

Polymorphism and mutation databases

BioMutaiAMER1
DMDMi142984753

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002818871 – 1135APC membrane recruitment protein 1Add BLAST1135

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei246PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ5JTC6
MaxQBiQ5JTC6
PaxDbiQ5JTC6
PeptideAtlasiQ5JTC6
PRIDEiQ5JTC6
ProteomicsDBi63211
63212 [Q5JTC6-2]

PTM databases

iPTMnetiQ5JTC6
PhosphoSitePlusiQ5JTC6

Expressioni

Tissue specificityi

Detected in fetal and adult kidney, brain and spleen.1 Publication

Gene expression databases

BgeeiENSG00000184675
CleanExiHS_FAM123B
GenevisibleiQ5JTC6 HS

Organism-specific databases

HPAiHPA065214
HPA065265

Interactioni

Subunit structurei

Interacts with CTNNB1, AXIN1, LRP6, KEAP1, APC and BTRC. Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes containing BTRC and/or FBXW11. Identified in the beta-catenin destruction complex containing CTNNB1, APC, AXIN1 and AXIN2. Interacts with WT1.5 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • beta-catenin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi126556, 27 interactors
ELMiQ5JTC6
IntActiQ5JTC6, 18 interactors
MINTiQ5JTC6
STRINGi9606.ENSP00000329117

Structurei

3D structure databases

ProteinModelPortaliQ5JTC6
SMRiQ5JTC6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi370 – 411Glu-richAdd BLAST42
Compositional biasi755 – 762Poly-Glu8
Compositional biasi930 – 939Poly-Glu10
Compositional biasi952 – 1104Pro-richAdd BLAST153

Sequence similaritiesi

Belongs to the Amer family.Curated

Phylogenomic databases

eggNOGiENOG410IJHD Eukaryota
ENOG410XU7Y LUCA
GeneTreeiENSGT00530000063529
HOGENOMiHOG000049188
HOVERGENiHBG107863
InParanoidiQ5JTC6
KOiK19407
OMAiRDGEGKC
OrthoDBiEOG091G08AF
PhylomeDBiQ5JTC6
TreeFamiTF333006

Family and domain databases

InterProiView protein in InterPro
IPR019003 AMER
PANTHERiPTHR22237 PTHR22237, 1 hit
PfamiView protein in Pfam
PF09422 WTX, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5JTC6-1) [UniParc]FASTAAdd to basket
Also known as: Amer1-S1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
METQKDEAAQ AKGAAASGST REQTAEKGAK NKAAEATEGP TSEPSSSGPG
60 70 80 90 100
RLKKTAMKLF GGKKGICTLP SFFGGGRSKG SGKGSSKKGL SKSKTHDGLS
110 120 130 140 150
EAAHGPEDVV SEGTGFSLPL PELPCQFPSS QSAHGALETG SRCKTSVAGA
160 170 180 190 200
TEKAVAEKFP SMPKPKKGLK GFFSSIRRHR KSKVTGAEQS EPGAKGPERV
210 220 230 240 250
RARPHEHVSS APQVPCFEET FQAPRKENAN PQDAPGPKVS PTPEPSPPAT
260 270 280 290 300
EKMACKDPEK PMEACASAHV QPKPAPEASS LEEPHSPETG EKVVAGEVNP
310 320 330 340 350
PNGPVGDPLS LLFGDVTSLK SFDSLTGCGD IIAEQDMDSM TDSMASGGQR
360 370 380 390 400
ANRDGTKRSS CLVTYQGGGE EMALPDDDDE EEEEEEEVEL EEEEEEVKEE
410 420 430 440 450
EEDDDLEYLW ETAQMYPRPN MNLGYHPTTS PGHHGYMLLD PVRSYPGLAP
460 470 480 490 500
GELLTPQSDQ QESAPNSDEG YYDSTTPGFE DDSGEALGLV RRDCLPRDSY
510 520 530 540 550
SGDALYEFYE PDDSLENSPP GDDCLYDLHG RSSEMFDPFL NFEPFLSSRP
560 570 580 590 600
PGAMETEEER LVTIQKQLLY WELRREQLEA QEARAREAHA REAHAREAYT
610 620 630 640 650
REAYGREAYA REAHTWEAHG REARTREAQA REVRCRETQV RETQARQEKP
660 670 680 690 700
VLEYQMRPLG PSVMGLAAGV SGTSQISHRG ITSAFPTTAS SEPDWRDFRP
710 720 730 740 750
LEKRYEGTCS KKDQSTCLMQ LFQSDAMFEP DMQEANFGGS PRRAYPTYSP
760 770 780 790 800
PEDPEEEEVE KEGNATVSFS QALVEFTSNG NLFSSMSCSS DSDSSFTQNL
810 820 830 840 850
PELPPMVTFD IADVERDGEG KCEENPEFHN DEDLAASLEA FELGYYHKHA
860 870 880 890 900
FNNYHSRFYQ GLPWGVSSLP RYLGLPGLHP RPPPAAMALN RRSRSLDTAE
910 920 930 940 950
TLEMELSNSH LVQGYLESDE LQAQQEDSDE EDEEEEEGEW SRDSPLSLYT
960 970 980 990 1000
EPPGAYDWPA WAPCPLPVGP GPAWISPNQL DRPSSQSPYR QATCCIPPMT
1010 1020 1030 1040 1050
MSISLSVPES RAPGESGPQL ARPSHLHLPM GPCYNLQPQA SQSMRARPRD
1060 1070 1080 1090 1100
VLLPVDEPSC SSSSGGFSPS PLPQAKPVGI THGIPQLPRV RPEHPQPQPT
1110 1120 1130
HYGPSSLDLS KERAEQGASL ATSYSSTAMN GNLAK
Length:1,135
Mass (Da):124,029
Last modified:April 3, 2007 - v2
Checksum:i7C77EF692A0F60D3
GO
Isoform 2 (identifier: Q5JTC6-2) [UniParc]FASTAAdd to basket
Also known as: Amer1-S2, Short

The sequence of this isoform differs from the canonical sequence as follows:
     786-804: MSCSSDSDSSFTQNLPELP → IRCPGTEDKRQVTQACGTW
     805-1135: Missing.

Show »
Length:804
Mass (Da):87,823
Checksum:i3DDEF91694003622
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q5JTC6-2)
Sequence conflicti786I → R in BAC04964 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053870159F → L. Corresponds to variant dbSNP:rs34677493EnsemblClinVar.1
Natural variantiVAR_076268178R → C1 PublicationCorresponds to variant dbSNP:rs376626895Ensembl.1
Natural variantiVAR_053871278A → S. Corresponds to variant dbSNP:rs35718712EnsemblClinVar.1
Natural variantiVAR_031304292K → N1 PublicationCorresponds to variant dbSNP:rs138948924EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024091786 – 804MSCSS…LPELP → IRCPGTEDKRQVTQACGTW in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_024092805 – 1135Missing in isoform 2. 1 PublicationAdd BLAST331

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF186024 mRNA Translation: ABM60755.1
AK097146 mRNA Translation: BAC04964.1
AL355852 Genomic DNA No translation available.
CCDSiCCDS14377.2 [Q5JTC6-1]
RefSeqiNP_689637.3, NM_152424.3 [Q5JTC6-1]
UniGeneiHs.314225

Genome annotation databases

EnsembliENST00000330258; ENSP00000329117; ENSG00000184675 [Q5JTC6-1]
ENST00000374869; ENSP00000364003; ENSG00000184675 [Q5JTC6-2]
GeneIDi139285
KEGGihsa:139285
UCSCiuc004dvo.3 human [Q5JTC6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAMER1_HUMAN
AccessioniPrimary (citable) accession number: Q5JTC6
Secondary accession number(s): A2IB86, Q8N885
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: July 18, 2018
This is version 116 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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