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AN13A_HUMAN
ID   AN13A_HUMAN             Reviewed;         590 AA.
AC   Q8IZ07; O60736;
DT   19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT   17-APR-2007, sequence version 3.
DT   03-AUG-2022, entry version 163.
DE   RecName: Full=Ankyrin repeat domain-containing protein 13A;
DE   AltName: Full=Protein KE03;
GN   Name=ANKRD13A; Synonyms=ANKRD13;
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].
RC   TISSUE=Testis;
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   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 1-353.
RC   TISSUE=Blood;
RA   Zhao Z., Huang X., Li N., Zhu X., Cao X.;
RT   "A novel gene from human dendritic cells.";
RL   Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA   Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
RN   [4]
RP   FUNCTION, INTERACTION WITH EGFR, UBIQUITINATION, UIM DOMAIN,
RP   UBIQUITIN-BINDING, SUBCELLULAR LOCATION, AND MUTAGENESIS OF
RP   491-ALA--SER-495; 527-ALA--SER-531; 557-ALA--SER-561 AND 582-VAL--SER-586.
RX   PubMed=22298428; DOI=10.1091/mbc.e11-09-0817;
RA   Tanno H., Yamaguchi T., Goto E., Ishido S., Komada M.;
RT   "The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor
RT   endocytosis from the plasma membrane.";
RL   Mol. Biol. Cell 23:1343-1353(2012).
RN   [5]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-586, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Liver;
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA   Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT   phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
CC   -!- FUNCTION: Ubiquitin-binding protein that specifically recognizes and
CC       binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked
CC       ubiquitin. Positively regulates the internalization of ligand-activated
CC       EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell
CC       membrane. {ECO:0000269|PubMed:22298428}.
CC   -!- SUBUNIT: Interacts (via the UIM 3 and 4 repeats) with EGFR
CC       (ubiquitinated); the interaction is direct, inhibited by ANKRD13A
CC       monoubiquitination and may regulate EGFR internalization.
CC       {ECO:0000269|PubMed:22298428}.
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22298428}. Late
CC       endosome {ECO:0000269|PubMed:22298428}. Note=Interaction with EGFR may
CC       enhance association with the cell membrane.
CC   -!- DOMAIN: The UIM repeats 3 and 4 are required for binding to
CC       ubiquitinated EGFR and 'Lys-63'-linked ubiquitin.
CC   -!- PTM: Monoubiquitinated, inhibits interaction with ubiquitinated EGFR.
CC       {ECO:0000269|PubMed:22298428}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAC17109.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; BC032833; AAH32833.2; -; mRNA.
DR   EMBL; AF064604; AAC17109.1; ALT_FRAME; mRNA.
DR   CCDS; CCDS9140.1; -.
DR   RefSeq; NP_149112.1; NM_033121.1.
DR   AlphaFoldDB; Q8IZ07; -.
DR   SMR; Q8IZ07; -.
DR   BioGRID; 124582; 148.
DR   IntAct; Q8IZ07; 32.
DR   MINT; Q8IZ07; -.
DR   STRING; 9606.ENSP00000261739; -.
DR   iPTMnet; Q8IZ07; -.
DR   MetOSite; Q8IZ07; -.
DR   PhosphoSitePlus; Q8IZ07; -.
DR   BioMuta; ANKRD13A; -.
DR   DMDM; 145559439; -.
DR   EPD; Q8IZ07; -.
DR   jPOST; Q8IZ07; -.
DR   MassIVE; Q8IZ07; -.
DR   MaxQB; Q8IZ07; -.
DR   PaxDb; Q8IZ07; -.
DR   PeptideAtlas; Q8IZ07; -.
DR   PRIDE; Q8IZ07; -.
DR   ProteomicsDB; 71265; -.
DR   Antibodypedia; 49620; 81 antibodies from 17 providers.
DR   DNASU; 88455; -.
DR   Ensembl; ENST00000261739.9; ENSP00000261739.4; ENSG00000076513.17.
DR   GeneID; 88455; -.
DR   KEGG; hsa:88455; -.
DR   MANE-Select; ENST00000261739.9; ENSP00000261739.4; NM_033121.2; NP_149112.1.
DR   UCSC; uc001tpx.4; human.
DR   CTD; 88455; -.
DR   DisGeNET; 88455; -.
DR   GeneCards; ANKRD13A; -.
DR   HGNC; HGNC:21268; ANKRD13A.
DR   HPA; ENSG00000076513; Low tissue specificity.
DR   MIM; 615123; gene.
DR   neXtProt; NX_Q8IZ07; -.
DR   OpenTargets; ENSG00000076513; -.
DR   PharmGKB; PA134884324; -.
DR   VEuPathDB; HostDB:ENSG00000076513; -.
DR   eggNOG; KOG0522; Eukaryota.
DR   GeneTree; ENSGT00950000182928; -.
DR   HOGENOM; CLU_026137_2_0_1; -.
DR   InParanoid; Q8IZ07; -.
DR   OMA; HSYEAQY; -.
DR   OrthoDB; 425969at2759; -.
DR   PhylomeDB; Q8IZ07; -.
DR   TreeFam; TF314176; -.
DR   PathwayCommons; Q8IZ07; -.
DR   SignaLink; Q8IZ07; -.
DR   BioGRID-ORCS; 88455; 6 hits in 1075 CRISPR screens.
DR   ChiTaRS; ANKRD13A; human.
DR   GenomeRNAi; 88455; -.
DR   Pharos; Q8IZ07; Tbio.
DR   PRO; PR:Q8IZ07; -.
DR   Proteomes; UP000005640; Chromosome 12.
DR   RNAct; Q8IZ07; protein.
DR   Bgee; ENSG00000076513; Expressed in upper arm skin and 189 other tissues.
DR   ExpressionAtlas; Q8IZ07; baseline and differential.
DR   Genevisible; Q8IZ07; HS.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005770; C:late endosome; IDA:UniProtKB.
DR   GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR   GO; GO:0140036; F:ubiquitin-dependent protein binding; IDA:UniProtKB.
DR   GO; GO:1905667; P:negative regulation of protein localization to endosome; IDA:UniProtKB.
DR   GO; GO:0002091; P:negative regulation of receptor internalization; IMP:UniProtKB.
DR   Gene3D; 1.25.40.20; -; 1.
DR   InterPro; IPR021832; ANKRD13.
DR   InterPro; IPR002110; Ankyrin_rpt.
DR   InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR   InterPro; IPR003903; UIM_dom.
DR   PANTHER; PTHR12447; PTHR12447; 1.
DR   Pfam; PF13637; Ank_4; 1.
DR   Pfam; PF11904; GPCR_chapero_1; 1.
DR   SMART; SM00248; ANK; 2.
DR   SMART; SM00726; UIM; 3.
DR   SUPFAM; SSF48403; SSF48403; 1.
DR   PROSITE; PS50297; ANK_REP_REGION; 1.
DR   PROSITE; PS50088; ANK_REPEAT; 1.
DR   PROSITE; PS50330; UIM; 3.
PE   1: Evidence at protein level;
KW   ANK repeat; Cell membrane; Endosome; Membrane; Phosphoprotein;
KW   Reference proteome; Repeat; Ubl conjugation.
FT   CHAIN           1..590
FT                   /note="Ankyrin repeat domain-containing protein 13A"
FT                   /id="PRO_0000066909"
FT   REPEAT          40..69
FT                   /note="ANK 1"
FT   REPEAT          73..102
FT                   /note="ANK 2"
FT   DOMAIN          483..502
FT                   /note="UIM 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00213"
FT   DOMAIN          519..538
FT                   /note="UIM 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00213"
FT   DOMAIN          549..568
FT                   /note="UIM 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00213"
FT   DOMAIN          574..590
FT                   /note="UIM 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00213"
FT   MOD_RES         205
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80UP5"
FT   MOD_RES         586
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:24275569"
FT   VARIANT         505
FT                   /note="L -> P (in dbSNP:rs2287174)"
FT                   /id="VAR_048276"
FT   MUTAGEN         491..495
FT                   /note="AIQQS->GIQQA: No effect on 'Lys-63'-linked ubiquitin
FT                   binding and interaction with EGFR. No effect on 'Lys-63'-
FT                   linked ubiquitin binding and interaction with EGFR; when
FT                   associated with 527-G--A-531. Inhibits 'Lys-63'-linked
FT                   ubiquitin binding; when associated with 527-G--A-531 and
FT                   557-G--A-561. Abolishes 'Lys-63'-linked ubiquitin binding
FT                   and interaction with EGFR; when associated with 527-G--A-
FT                   531, 557-G--A-561 and 582-G--A-586."
FT                   /evidence="ECO:0000269|PubMed:22298428"
FT   MUTAGEN         527..531
FT                   /note="AIQES->GIQEA: No effect on 'Lys-63'-linked ubiquitin
FT                   binding and interaction with EGFR. No effect on 'Lys-63'-
FT                   linked ubiquitin binding and interaction with EGFR; when
FT                   associated with 491-G--A-495. Inhibits 'Lys-63'-linked
FT                   ubiquitin binding; when associated with 557-G--A-561.
FT                   Inhibits 'Lys-63'-linked ubiquitin binding; when associated
FT                   with 491-G--A-495 and 557-G--A-561. Strongly inhibits 'Lys-
FT                   63'-linked ubiquitin binding; when associated with 557-G--
FT                   A-561 and 582-G--A-586. Abolishes 'Lys-63'-linked ubiquitin
FT                   binding and interaction with EGFR; when associated with
FT                   491-G--A-495, 557-G--A-561 and 582-G--A-586."
FT                   /evidence="ECO:0000269|PubMed:22298428"
FT   MUTAGEN         557..561
FT                   /note="AMELS->GMELA: Slightly inhibits 'Lys-63'-linked
FT                   ubiquitin binding and strongly inhibits interaction with
FT                   EGFR. No effect on 'Lys-63'-linked ubiquitin binding and
FT                   interaction with EGFR; when associated with 527-G--A-531.
FT                   Inhibits 'Lys-63'-linked ubiquitin binding and interaction
FT                   with EGFR; when associated with 491-G--A-495 and 527-G--A-
FT                   531. Abolishes 'Lys-63'-linked ubiquitin binding and
FT                   interaction with EGFR; when associated with 582-V--S-586.
FT                   Abolishes 'Lys-63'-linked ubiquitin binding and interaction
FT                   with EGFR; when associated with 491-G--A-495, 527-G--A-531
FT                   and 582-G--A-586."
FT                   /evidence="ECO:0000269|PubMed:22298428"
FT   MUTAGEN         582..586
FT                   /note="VLQLS->GLQLA: Abolishes 'Lys-63'-linked ubiquitin
FT                   binding and strongly inhibits interaction with EGFR.
FT                   Abolishes 'Lys-63'-linked ubiquitin binding and interaction
FT                   with EGFR; when associated with 557-G--A-561. Strongly
FT                   inhibits 'Lys-63'-linked ubiquitin binding; when associated
FT                   with 527-G--A-531 and 557-G--A-561. Abolishes 'Lys-63'-
FT                   linked ubiquitin binding and interaction with EGFR; when
FT                   associated with 491-G--A-495, 527-G--A-531 and 557-G--A-
FT                   561."
FT                   /evidence="ECO:0000269|PubMed:22298428"
FT   CONFLICT        193
FT                   /note="D -> G (in Ref. 2; AAC17109)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        296
FT                   /note="D -> G (in Ref. 1; AAH32833)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   590 AA;  67619 MW;  25D0B712D1A1B0B9 CRC64;
     MSSACDAGDH YPLHLLVWKN DYRQLEKELQ GQNVEAVDPR GRTLLHLAVS LGHLESARVL
     LRHKADVTKE NRQGWTVLHE AVSTGDPEMV YTVLQHRDYH NTSMALEGVP ELLQKILEAP
     DFYVQMKWEF TSWVPLVSRI CPNDVCRIWK SGAKLRVDIT LLGFENMSWI RGRRSFIFKG
     EDNWAELMEV NHDDKVVTTE RFDLSQEMER LTLDLMKPKS REVERRLTSP VINTSLDTKN
     IAFERTKSGF WGWRTDKAEV VNGYEAKVYT VNNVNVITKI RTEHLTEEEK KRYKADRNPL
     ESLLGTVEHQ FGAQGDLTTE CATANNPTAI TPDEYFNEEF DLKDRDIGRP KELTIRTQKF
     KAMLWMCEEF PLSLVEQVIP IIDLMARTSA HFARLRDFIK LEFPPGFPVK IEIPLFHVLN
     ARITFGNVNG CSTAEESVSQ NVEGTQADSA SHITNFEVDQ SVFEIPESYY VQDNGRNVHL
     QDEDYEIMQF AIQQSLLESS RSQELSGPAS NGGISQTNTY DAQYERAIQE SLLTSTEGLC
     PSALSETSRF DNDLQLAMEL SAKELEEWEL RLQEEEAELQ QVLQLSLTDK
 
 
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