ANR50_HUMAN
ID ANR50_HUMAN Reviewed; 1429 AA.
AC Q9ULJ7; A8K4V3; B4DHJ6; E9PDW0; Q6N064; Q6ZSE6;
DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot.
DT 28-JUL-2009, sequence version 4.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Ankyrin repeat domain-containing protein 50;
GN Name=ANKRD50; Synonyms=KIAA1223;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Thalamus;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 150-1429 (ISOFORM 1).
RC TISSUE=Colon endothelium;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 341-1429 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XV. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:337-345(1999).
RN [5]
RP PROTEIN SEQUENCE OF 493-502 AND 816-831, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RC TISSUE=Hepatoma;
RA Bienvenut W.V., Dhillon A.S., Kolch W.;
RL Submitted (FEB-2008) to UniProtKB.
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1222, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient
RT phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1165; SER-1167 AND SER-1400,
RP AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP FUNCTION, AND INTERACTION WITH VPS35.
RX PubMed=25278552; DOI=10.1242/jcs.156299;
RA McGough I.J., Steinberg F., Gallon M., Yatsu A., Ohbayashi N., Heesom K.J.,
RA Fukuda M., Cullen P.J.;
RT "Identification of molecular heterogeneity in SNX27-retromer-mediated
RT endosome-to-plasma-membrane recycling.";
RL J. Cell Sci. 127:4940-4953(2014).
CC -!- FUNCTION: Involved in the endosome-to-plasma membrane trafficking and
CC recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1
CC (PubMed:25278552).
CC -!- SUBUNIT: Interacts with VPS35 (PubMed:25278552).
CC {ECO:0000269|PubMed:25278552}.
CC -!- INTERACTION:
CC Q9ULJ7; PRO_0000308465 [P29991]; Xeno; NbExp=4; IntAct=EBI-5653671, EBI-8826747;
CC Q9ULJ7-2; Q9NWT6: HIF1AN; NbExp=3; IntAct=EBI-12239063, EBI-745632;
CC Q9ULJ7-2; P15622-3: ZNF250; NbExp=3; IntAct=EBI-12239063, EBI-10177272;
CC -!- SUBCELLULAR LOCATION: Endosome {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9ULJ7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9ULJ7-2; Sequence=VSP_045459;
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DR EMBL; AK127496; BAC87007.1; -; mRNA.
DR EMBL; AK291068; BAF83757.1; -; mRNA.
DR EMBL; AK295135; BAG58158.1; -; mRNA.
DR EMBL; AC105421; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX640674; CAE45806.1; -; mRNA.
DR EMBL; AB033049; BAA86537.2; -; mRNA.
DR CCDS; CCDS34060.1; -. [Q9ULJ7-1]
DR CCDS; CCDS54802.1; -. [Q9ULJ7-2]
DR RefSeq; NP_001161354.1; NM_001167882.1. [Q9ULJ7-2]
DR RefSeq; NP_065070.1; NM_020337.2. [Q9ULJ7-1]
DR RefSeq; XP_016863960.1; XM_017008471.1. [Q9ULJ7-1]
DR AlphaFoldDB; Q9ULJ7; -.
DR SMR; Q9ULJ7; -.
DR BioGRID; 121431; 97.
DR DIP; DIP-47302N; -.
DR IntAct; Q9ULJ7; 18.
DR MINT; Q9ULJ7; -.
DR STRING; 9606.ENSP00000425658; -.
DR TCDB; 9.A.3.1.1; the sorting nexin27 (snx27)-retromer assembly apparatus (retromeraa) family.
DR GlyGen; Q9ULJ7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9ULJ7; -.
DR MetOSite; Q9ULJ7; -.
DR PhosphoSitePlus; Q9ULJ7; -.
DR BioMuta; ANKRD50; -.
DR DMDM; 254763437; -.
DR EPD; Q9ULJ7; -.
DR jPOST; Q9ULJ7; -.
DR MassIVE; Q9ULJ7; -.
DR MaxQB; Q9ULJ7; -.
DR PaxDb; Q9ULJ7; -.
DR PeptideAtlas; Q9ULJ7; -.
DR PRIDE; Q9ULJ7; -.
DR ProteomicsDB; 19759; -.
DR ProteomicsDB; 85050; -. [Q9ULJ7-1]
DR Antibodypedia; 48522; 82 antibodies from 15 providers.
DR DNASU; 57182; -.
DR Ensembl; ENST00000504087.6; ENSP00000425658.1; ENSG00000151458.12. [Q9ULJ7-1]
DR Ensembl; ENST00000515641.1; ENSP00000425355.1; ENSG00000151458.12. [Q9ULJ7-2]
DR GeneID; 57182; -.
DR KEGG; hsa:57182; -.
DR MANE-Select; ENST00000504087.6; ENSP00000425658.1; NM_020337.3; NP_065070.1.
DR UCSC; uc010inw.4; human. [Q9ULJ7-1]
DR CTD; 57182; -.
DR DisGeNET; 57182; -.
DR GeneCards; ANKRD50; -.
DR HGNC; HGNC:29223; ANKRD50.
DR HPA; ENSG00000151458; Low tissue specificity.
DR MIM; 619856; gene.
DR neXtProt; NX_Q9ULJ7; -.
DR OpenTargets; ENSG00000151458; -.
DR PharmGKB; PA128394695; -.
DR VEuPathDB; HostDB:ENSG00000151458; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000155116; -.
DR HOGENOM; CLU_002138_0_0_1; -.
DR InParanoid; Q9ULJ7; -.
DR OMA; TCQAKDL; -.
DR OrthoDB; 1073736at2759; -.
DR PhylomeDB; Q9ULJ7; -.
DR TreeFam; TF323159; -.
DR PathwayCommons; Q9ULJ7; -.
DR SignaLink; Q9ULJ7; -.
DR BioGRID-ORCS; 57182; 13 hits in 1078 CRISPR screens.
DR ChiTaRS; ANKRD50; human.
DR GenomeRNAi; 57182; -.
DR Pharos; Q9ULJ7; Tdark.
DR PRO; PR:Q9ULJ7; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9ULJ7; protein.
DR Bgee; ENSG00000151458; Expressed in sperm and 180 other tissues.
DR Genevisible; Q9ULJ7; HS.
DR GO; GO:0005768; C:endosome; IEA:UniProtKB-SubCell.
DR GO; GO:0032456; P:endocytic recycling; IMP:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR Gene3D; 1.25.40.20; -; 7.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR Pfam; PF12796; Ank_2; 5.
DR Pfam; PF13637; Ank_4; 2.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 17.
DR SUPFAM; SSF48403; SSF48403; 2.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 17.
PE 1: Evidence at protein level;
KW Alternative splicing; ANK repeat; Direct protein sequencing; Endosome;
KW Phosphoprotein; Protein transport; Reference proteome; Repeat; Transport.
FT CHAIN 1..1429
FT /note="Ankyrin repeat domain-containing protein 50"
FT /id="PRO_0000066920"
FT REPEAT 477..509
FT /note="ANK 1"
FT REPEAT 511..540
FT /note="ANK 2"
FT REPEAT 544..573
FT /note="ANK 3"
FT REPEAT 577..606
FT /note="ANK 4"
FT REPEAT 610..639
FT /note="ANK 5"
FT REPEAT 643..672
FT /note="ANK 6"
FT REPEAT 676..705
FT /note="ANK 7"
FT REPEAT 709..743
FT /note="ANK 8"
FT REPEAT 747..776
FT /note="ANK 9"
FT REPEAT 780..809
FT /note="ANK 10"
FT REPEAT 813..842
FT /note="ANK 11"
FT REPEAT 846..875
FT /note="ANK 12"
FT REPEAT 879..908
FT /note="ANK 13"
FT REPEAT 912..941
FT /note="ANK 14"
FT REPEAT 945..974
FT /note="ANK 15"
FT REPEAT 978..1007
FT /note="ANK 16"
FT REPEAT 1011..1040
FT /note="ANK 17"
FT REPEAT 1044..1073
FT /note="ANK 18"
FT REPEAT 1077..1107
FT /note="ANK 19"
FT REGION 1108..1200
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1217..1296
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1108..1145
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1156..1200
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1165
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1167
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1222
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18220336"
FT MOD_RES 1400
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..179
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045459"
FT CONFLICT 45
FT /note="N -> D (in Ref. 1; BAF83757)"
FT /evidence="ECO:0000305"
FT CONFLICT 281
FT /note="R -> Q (in Ref. 3; CAE45806)"
FT /evidence="ECO:0000305"
FT CONFLICT 647
FT /note="A -> V (in Ref. 4; BAA86537)"
FT /evidence="ECO:0000305"
FT CONFLICT 656
FT /note="H -> R (in Ref. 1; BAC87007)"
FT /evidence="ECO:0000305"
FT CONFLICT 1043
FT /note="N -> D (in Ref. 1; BAG58158)"
FT /evidence="ECO:0000305"
FT CONFLICT 1111
FT /note="S -> P (in Ref. 1; BAF83757)"
FT /evidence="ECO:0000305"
FT CONFLICT 1362
FT /note="M -> I (in Ref. 1; BAF83757)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1429 AA; 155859 MW; 4B5403A8433147C2 CRC64;
MTNPWEEKVC KMAQTSLLQG KQFYCREWVF HKLQHCLQEK SNCCNSAVNA PSLVMNSGNN
ASGVSGKGAA WGVLLVGGPG SGKTALCTEL LWPSSPASLQ RGLHRQALAF HFCKAQDSDT
LCVGGFIRGL VAQICRSGLL QGYEDKLRDP AVQSLLQPGE CERNPAEAFK RCVLLPLLGM
KPPQQSLYLL VDSVDEGCNI TEGEQTSTSL SGTVAALLAG HHEFFPPWLL LLCSARKQSK
AVTKMFTGFR KISLDDLRKA YIVKDVQQYI LHRLDQEEAL RQHLTKETAE MLNQLHIKSS
GCFLYLERVL DGVVENFIML REIRDIPGTL NGLYLWLCQR LFVRKQFAKV QPILNVILAA
CRPLTITELY HAVWTKNMSL TLEDFQRKLD ILSKLLVDGL GNTKILFHYS FAEWLLDVKH
CTQKYLCNAA EGHRMLAMSY TCQAKNLTPL EAQEFALHLI NSNLQLETAE LALWMIWNGT
PVRDSLSTLI PKEQEVLQLL VKAGAHVNSE DDRTSCIVRQ ALEREDSIRT LLDNGASVNQ
CDSNGRTLLA NAAYSGSLDV VNLLVSRGAD LEIEDAHGHT PLTLAARQGH TKVVNCLIGC
GANINHTDQD GWTALRSAAW GGHTEVVSAL LYAGVKVDCA DADSRTALRA AAWGGHEDIV
LNLLQHGAEV NKADNEGRTA LIAAAYMGHR EIVEHLLDHG AEVNHEDVDG RTALSVAALC
VPASKGHASV VSLLIDRGAE VDHCDKDGMT PLLVAAYEGH VDVVDLLLEG GADVDHTDNN
GRTPLLAAAS MGHASVVNTL LFWGAAVDSI DSEGRTVLSI ASAQGNVEVV RTLLDRGLDE
NHRDDAGWTP LHMAAFEGHR LICEALIEQG ARTNEIDNDG RIPFILASQE GHYDCVQILL
ENKSNIDQRG YDGRNALRVA ALEGHRDIVE LLFSHGADVN CKDADGRPTL YILALENQLT
MAEYFLENGA NVEASDAEGR TALHVSCWQG HMEMVQVLIA YHADVNAADN EKRSALQSAA
WQGHVKVVQL LIEHGAVVDH TCNQGATALC IAAQEGHIDV VQVLLEHGAD PNHADQFGRT
AMRVAAKNGH SQIIKLLEKY GASSLNGCSP SPVHTMEQKP LQSLSSKVQS LTIKSNSSGS
TGGGDMQPSL RGLPNGPTHA FSSPSESPDS TVDRQKSSLS NNSLKSSKNS SLRTTSSTAT
AQTVPIDSFH NLSFTEQIQQ HSLPRSRSRQ SIVSPSSTTQ SLGQSHNSPS SEFEWSQVKP
SLKSTKASKG GKSENSAKSG SAGKKAKQSN SSQPKVLEYE MTQFDRRGPI AKSGTAAPPK
QMPAESQCKI MIPSAQQEIG RSQQQFLIHQ QSGEQKKRNG IMTNPNYHLQ SNQVFLGRVS
VPRTMQDRGH QEVLEGYPSS ETELSLKQAL KLQIEGSDPS FNYKKETPL
