AMER2_HUMAN
ID AMER2_HUMAN Reviewed; 671 AA.
AC Q8N7J2; Q5RL80; Q5VX56; Q8N593; Q96NN5;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 28-JUN-2011, sequence version 3.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=APC membrane recruitment protein 2;
DE Short=Amer2;
DE AltName: Full=Protein FAM123A;
GN Name=AMER2; Synonyms=FAM123A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 47-671 (ISOFORM 1).
RC TISSUE=Brain, and Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 24-671 (ISOFORM 2).
RC TISSUE=Brain, and Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT [LARGE SCALE ANALYSIS] THR-457.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [5]
RP INTERACTION WITH APC.
RX PubMed=17925383; DOI=10.1242/jcs.011320;
RA Grohmann A., Tanneberger K., Alzner A., Schneikert J., Behrens J.;
RT "AMER1 regulates the distribution of the tumor suppressor APC between
RT microtubules and the plasma membrane.";
RL J. Cell Sci. 120:3738-3747(2007).
RN [6]
RP GENE FAMILY.
RX PubMed=20843316; DOI=10.1186/1471-2148-10-280;
RA Boutet A., Comai G., Schedl A.;
RT "The WTX/AMER1 gene family: evolution, signature and function.";
RL BMC Evol. Biol. 10:280-280(2010).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, PTDINS(4,5)P2-BINDING, AND INTERACTION WITH
RP APC.
RX PubMed=22128170; DOI=10.1074/jbc.m111.308650;
RA Pfister A.S., Tanneberger K., Schambony A., Behrens J.;
RT "Amer2 protein is a novel negative regulator of Wnt/beta-Catenin signaling
RT involved in neuroectodermal patterning.";
RL J. Biol. Chem. 287:1734-1741(2012).
CC -!- FUNCTION: Negative regulator of the canonical Wnt signaling pathway
CC involved in neuroectodermal patterning. Acts by specifically binding
CC phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to
CC the cell membrane and interacting with key regulators of the canonical
CC Wnt signaling pathway, such as components of the beta-catenin
CC destruction complex. {ECO:0000269|PubMed:22128170}.
CC -!- SUBUNIT: Interacts with APC. {ECO:0000269|PubMed:17925383,
CC ECO:0000269|PubMed:22128170}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22128170};
CC Peripheral membrane protein {ECO:0000269|PubMed:22128170}.
CC Note=Translocates to the cell membrane following binding to
CC PtdIns(4,5)P2.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N7J2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N7J2-2; Sequence=VSP_024089;
CC -!- SIMILARITY: Belongs to the Amer family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH32653.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH41392.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC05288.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK055049; BAB70845.1; -; mRNA.
DR EMBL; AK098343; BAC05288.1; ALT_INIT; mRNA.
DR EMBL; AL359757; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032653; AAH32653.2; ALT_INIT; mRNA.
DR EMBL; BC041392; AAH41392.1; ALT_FRAME; mRNA.
DR CCDS; CCDS53859.1; -. [Q8N7J2-1]
DR CCDS; CCDS9312.1; -. [Q8N7J2-2]
DR RefSeq; NP_689917.2; NM_152704.3. [Q8N7J2-1]
DR RefSeq; NP_954589.1; NM_199138.2. [Q8N7J2-2]
DR RefSeq; XP_005266336.1; XM_005266279.3. [Q8N7J2-1]
DR RefSeq; XP_005266337.1; XM_005266280.3. [Q8N7J2-1]
DR RefSeq; XP_016875904.1; XM_017020415.1. [Q8N7J2-1]
DR AlphaFoldDB; Q8N7J2; -.
DR BioGRID; 128520; 4.
DR IntAct; Q8N7J2; 3.
DR MINT; Q8N7J2; -.
DR STRING; 9606.ENSP00000426528; -.
DR iPTMnet; Q8N7J2; -.
DR PhosphoSitePlus; Q8N7J2; -.
DR BioMuta; AMER2; -.
DR DMDM; 338817901; -.
DR jPOST; Q8N7J2; -.
DR MassIVE; Q8N7J2; -.
DR PaxDb; Q8N7J2; -.
DR PeptideAtlas; Q8N7J2; -.
DR PRIDE; Q8N7J2; -.
DR ProteomicsDB; 72299; -. [Q8N7J2-1]
DR ProteomicsDB; 72300; -. [Q8N7J2-2]
DR Antibodypedia; 49984; 29 antibodies from 10 providers.
DR DNASU; 219287; -.
DR Ensembl; ENST00000357816.2; ENSP00000350469.2; ENSG00000165566.13. [Q8N7J2-2]
DR Ensembl; ENST00000515384.2; ENSP00000426528.1; ENSG00000165566.13. [Q8N7J2-1]
DR GeneID; 219287; -.
DR KEGG; hsa:219287; -.
DR MANE-Select; ENST00000515384.2; ENSP00000426528.1; NM_152704.4; NP_689917.2.
DR UCSC; uc001uqb.5; human. [Q8N7J2-1]
DR CTD; 219287; -.
DR DisGeNET; 219287; -.
DR GeneCards; AMER2; -.
DR HGNC; HGNC:26360; AMER2.
DR HPA; ENSG00000165566; Tissue enriched (brain).
DR MIM; 614659; gene.
DR neXtProt; NX_Q8N7J2; -.
DR OpenTargets; ENSG00000165566; -.
DR PharmGKB; PA145148898; -.
DR VEuPathDB; HostDB:ENSG00000165566; -.
DR eggNOG; ENOG502QU08; Eukaryota.
DR GeneTree; ENSGT00530000063529; -.
DR HOGENOM; CLU_032195_0_0_1; -.
DR InParanoid; Q8N7J2; -.
DR OMA; IDRICLM; -.
DR OrthoDB; 379029at2759; -.
DR PhylomeDB; Q8N7J2; -.
DR TreeFam; TF333006; -.
DR PathwayCommons; Q8N7J2; -.
DR SignaLink; Q8N7J2; -.
DR BioGRID-ORCS; 219287; 16 hits in 1070 CRISPR screens.
DR GenomeRNAi; 219287; -.
DR Pharos; Q8N7J2; Tbio.
DR PRO; PR:Q8N7J2; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q8N7J2; protein.
DR Bgee; ENSG00000165566; Expressed in endothelial cell and 86 other tissues.
DR Genevisible; Q8N7J2; HS.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0008013; F:beta-catenin binding; IBA:GO_Central.
DR GO; GO:0005546; F:phosphatidylinositol-4,5-bisphosphate binding; IDA:UniProtKB.
DR GO; GO:0007398; P:ectoderm development; ISS:UniProtKB.
DR GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; IMP:UniProtKB.
DR GO; GO:0060828; P:regulation of canonical Wnt signaling pathway; IBA:GO_Central.
DR GO; GO:0016055; P:Wnt signaling pathway; IEA:UniProtKB-KW.
DR InterPro; IPR019003; AMER.
DR PANTHER; PTHR22237; PTHR22237; 1.
DR Pfam; PF09422; WTX; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Lipid-binding; Membrane;
KW Phosphoprotein; Reference proteome; Wnt signaling pathway.
FT CHAIN 1..671
FT /note="APC membrane recruitment protein 2"
FT /id="PRO_0000281885"
FT REGION 1..24
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 76..358
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 391..414
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 444..598
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 153..169
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 172..189
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 200..215
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 239..256
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 296..314
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 470..517
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 520..536
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 572..587
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 162
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CCJ4"
FT MOD_RES 229
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CCJ4"
FT MOD_RES 233
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CCJ4"
FT MOD_RES 355
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CCJ4"
FT MOD_RES 358
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CCJ4"
FT VAR_SEQ 261..379
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_024089"
FT VARIANT 457
FT /note="A -> T (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036448"
FT VARIANT 659
FT /note="I -> M (in dbSNP:rs2282406)"
FT /id="VAR_031303"
FT CONFLICT 120
FT /note="K -> E (in Ref. 1; BAB70845)"
FT /evidence="ECO:0000305"
FT CONFLICT 142
FT /note="P -> S (in Ref. 3; AAH41392)"
FT /evidence="ECO:0000305"
FT CONFLICT 265
FT /note="G -> V (in Ref. 1; BAC05288)"
FT /evidence="ECO:0000305"
FT CONFLICT 290
FT /note="P -> A (in Ref. 3; AAH41392)"
FT /evidence="ECO:0000305"
FT CONFLICT 442
FT /note="M -> V (in Ref. 1; BAB70845)"
FT /evidence="ECO:0000305"
FT CONFLICT 511
FT /note="K -> E (in Ref. 3; AAH41392)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 671 AA; 69507 MW; 0640CCCCD03E0334 CRC64;
METSRSRGGG GAVSERGGAG ASVGVCRRKA EAGAGTGTLA ADMDLHCDCA AETPAAEPPS
GKINKAAFKL FKKRKSGGTM PSIFGVKNKG DGKSSGPTGL VRSRTHDGLA EVLVLESGRK
EEPRGGGDSG GGGGGRPNPG PPRAAGPGGG SLASSSVAKS HSFFSLLKKN GRSENGKGEP
VDASKAGGKQ KRGLRGLFSG MRWHRKDKRA KAEAAEGRAP GGGLILPGSL TASLECVKEE
TPRAAREPEE PSQDAPRDPA GEPAGGEEVP APADRAPARS CREAEGLAHP GDTGARGEDA
AGHRRAEPGP GEVRTAEDAS RTGAVPVKTV PLVDSEGGSG RAPAAPDPAS VDPPSDPSAD
RICLMFSDVT SLKSFDSLTG CGDIIADQEE EAGPSCDKHV PGPGKPALSK KNPGVVAYQG
GGEEMASPDE VDDTYLQEFW DMLSQTEEQG PEPQEGAAKV AAALETKVVP ETPKDTRCVE
AAKDASSVKR RRLNRIPIEP HPKEEPKHPE KEQQEGVPNS DEGYWDSTTP GPEEDSSSSG
KKAGIPRDSY SGDALYDLYA DPDGSPATLP GGKDNEETSS LSRLKPVSPG TITCPLRTPG
SLLKDSKIPI SIKHLTNLPS SHPVVHQQPS RSEMPRTKIP VSKVLVRRVS NRGLAGTTIR
ATACHDSAKK L
