HEAT6_HUMAN
ID HEAT6_HUMAN Reviewed; 1181 AA.
AC Q6AI08; B3KXP3; Q6MZX1; Q6MZY2; Q8TDM9; Q9H6B3; Q9H6M7;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2004, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=HEAT repeat-containing protein 6;
DE AltName: Full=Amplified in breast cancer protein 1;
GN Name=HEATR6; Synonyms=ABC1;
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=Hepatoma, and Kidney;
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 MRNA].
RC TISSUE=Colon endothelium, Rectum tumor, and Uterine 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 36-1181, AND TISSUE SPECIFICITY.
RX PubMed=11431322;
RA Wu G.-J., Sinclair C., Hinson S., Ingle J.N., Roche P.C., Couch F.J.;
RT "Structural analysis of the 17q22-23 amplicon identifies several
RT independent targets of amplification in breast cancer cell lines and
RT tumors.";
RL Cancer Res. 61:4951-4955(2001).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19369195; DOI=10.1074/mcp.m800588-mcp200;
RA Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA Mann M., Daub H.;
RT "Large-scale proteomics analysis of the human kinome.";
RL Mol. Cell. Proteomics 8:1751-1764(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-643, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [12]
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 [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [14]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-336; SER-337; SER-399;
RP SER-402 AND SER-643, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP 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).
CC -!- FUNCTION: Amplification-dependent oncogene.
CC -!- TISSUE SPECIFICITY: Amplified in breast cancer cell lines MCF-7 and BT-
CC 474. {ECO:0000269|PubMed:11431322}.
CC -!- MISCELLANEOUS: 17q23 region is one of the most commonly amplified
CC regions in breast cancer and therefore may harbor genes important for
CC breast cancer development and progression.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAL83912.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB15229.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB15348.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK025740; BAB15229.1; ALT_INIT; mRNA.
DR EMBL; AK026070; BAB15348.1; ALT_INIT; mRNA.
DR EMBL; AK127708; BAG54555.1; -; mRNA.
DR EMBL; BX640819; CAE45895.1; -; mRNA.
DR EMBL; BX640831; CAE45906.1; -; mRNA.
DR EMBL; CR627418; CAH10506.1; -; mRNA.
DR EMBL; CH471109; EAW94369.1; -; Genomic_DNA.
DR EMBL; BC119813; AAI19814.1; -; mRNA.
DR EMBL; AF349752; AAL83912.1; ALT_INIT; mRNA.
DR CCDS; CCDS11623.1; -.
DR RefSeq; NP_071353.4; NM_022070.4.
DR AlphaFoldDB; Q6AI08; -.
DR BioGRID; 121976; 89.
DR IntAct; Q6AI08; 18.
DR MINT; Q6AI08; -.
DR STRING; 9606.ENSP00000184956; -.
DR GlyGen; Q6AI08; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6AI08; -.
DR PhosphoSitePlus; Q6AI08; -.
DR SwissPalm; Q6AI08; -.
DR BioMuta; HEATR6; -.
DR DMDM; 74724525; -.
DR EPD; Q6AI08; -.
DR jPOST; Q6AI08; -.
DR MassIVE; Q6AI08; -.
DR MaxQB; Q6AI08; -.
DR PaxDb; Q6AI08; -.
DR PeptideAtlas; Q6AI08; -.
DR PRIDE; Q6AI08; -.
DR ProteomicsDB; 66184; -.
DR Antibodypedia; 31155; 59 antibodies from 11 providers.
DR DNASU; 63897; -.
DR Ensembl; ENST00000184956.11; ENSP00000184956.5; ENSG00000068097.16.
DR GeneID; 63897; -.
DR KEGG; hsa:63897; -.
DR MANE-Select; ENST00000184956.11; ENSP00000184956.5; NM_022070.5; NP_071353.4.
DR UCSC; uc002iyk.2; human.
DR CTD; 63897; -.
DR DisGeNET; 63897; -.
DR GeneCards; HEATR6; -.
DR HGNC; HGNC:24076; HEATR6.
DR HPA; ENSG00000068097; Low tissue specificity.
DR neXtProt; NX_Q6AI08; -.
DR OpenTargets; ENSG00000068097; -.
DR PharmGKB; PA162390774; -.
DR VEuPathDB; HostDB:ENSG00000068097; -.
DR eggNOG; KOG4535; Eukaryota.
DR GeneTree; ENSGT00390000016675; -.
DR HOGENOM; CLU_007141_1_0_1; -.
DR InParanoid; Q6AI08; -.
DR OMA; KPYICHK; -.
DR OrthoDB; 106835at2759; -.
DR PhylomeDB; Q6AI08; -.
DR TreeFam; TF324244; -.
DR PathwayCommons; Q6AI08; -.
DR SignaLink; Q6AI08; -.
DR BioGRID-ORCS; 63897; 34 hits in 1072 CRISPR screens.
DR ChiTaRS; HEATR6; human.
DR GenomeRNAi; 63897; -.
DR Pharos; Q6AI08; Tbio.
DR PRO; PR:Q6AI08; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6AI08; protein.
DR Bgee; ENSG00000068097; Expressed in ventricular zone and 177 other tissues.
DR ExpressionAtlas; Q6AI08; baseline and differential.
DR Genevisible; Q6AI08; HS.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR Gene3D; 1.25.10.10; -; 3.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR025283; DUF4042.
DR Pfam; PF13251; DUF4042; 1.
DR SUPFAM; SSF48371; SSF48371; 2.
PE 1: Evidence at protein level;
KW Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..1181
FT /note="HEAT repeat-containing protein 6"
FT /id="PRO_0000337173"
FT REPEAT 159..198
FT /note="HEAT 1"
FT REPEAT 452..490
FT /note="HEAT 2"
FT REPEAT 515..552
FT /note="HEAT 3"
FT REPEAT 558..595
FT /note="HEAT 4"
FT REGION 292..347
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 371..390
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 613..646
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 336
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 337
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 399
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 402
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 618
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:A1EC95"
FT MOD_RES 643
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332,
FT ECO:0007744|PubMed:23186163"
FT VARIANT 71
FT /note="A -> V (in dbSNP:rs3744376)"
FT /id="VAR_043670"
FT VARIANT 1006
FT /note="S -> L (in dbSNP:rs16943991)"
FT /id="VAR_043671"
FT CONFLICT 44
FT /note="D -> G (in Ref. 2; CAE45906)"
FT /evidence="ECO:0000305"
FT CONFLICT 307
FT /note="S -> C (in Ref. 1; BAB15229)"
FT /evidence="ECO:0000305"
FT CONFLICT 336
FT /note="S -> F (in Ref. 1; BAB15229)"
FT /evidence="ECO:0000305"
FT CONFLICT 343
FT /note="A -> V (in Ref. 1; BAB15229)"
FT /evidence="ECO:0000305"
FT CONFLICT 362..363
FT /note="SS -> FF (in Ref. 1; BAB15229)"
FT /evidence="ECO:0000305"
FT CONFLICT 383
FT /note="S -> Y (in Ref. 1; BAB15229)"
FT /evidence="ECO:0000305"
FT CONFLICT 385
FT /note="S -> C (in Ref. 1; BAB15229)"
FT /evidence="ECO:0000305"
FT CONFLICT 474
FT /note="R -> C (in Ref. 2; CAE45895)"
FT /evidence="ECO:0000305"
FT CONFLICT 630
FT /note="A -> T (in Ref. 1; BAB15229)"
FT /evidence="ECO:0000305"
FT CONFLICT 730
FT /note="L -> P (in Ref. 5; AAL83912)"
FT /evidence="ECO:0000305"
FT CONFLICT 753
FT /note="A -> T (in Ref. 5; AAL83912)"
FT /evidence="ECO:0000305"
FT CONFLICT 762
FT /note="F -> L (in Ref. 5; AAL83912)"
FT /evidence="ECO:0000305"
FT CONFLICT 778
FT /note="R -> G (in Ref. 2; CAE45895)"
FT /evidence="ECO:0000305"
FT CONFLICT 992
FT /note="G -> R (in Ref. 5; AAL83912)"
FT /evidence="ECO:0000305"
FT CONFLICT 1004
FT /note="L -> P (in Ref. 2; CAE45906)"
FT /evidence="ECO:0000305"
FT CONFLICT 1042
FT /note="I -> F (in Ref. 5; AAL83912)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1181 AA; 128781 MW; 61DA3E2A0CDA0BED CRC64;
MAAVQVVGSW PSVQPREAPR EAIPERGNGF RLLSARLCAL RPDDSSSART EIHLLFDQLI
SENYSEGSGV APEDVSALLV QACRLVPLNQ NHLVSKVSQL IHHLLNRLQV IVDEQHLDFL
LAYTISAIHQ CSSWTHREIL QALAALVYCN GSKCQKYLPE LLGNTGLLMK LSDLAQSDPE
VRRAAVHCMA NLCLSVPGQP YLEEPYQNVC FQAFLTILQS PKSSDMDDIT FCMLLQNALK
GIQSLLNGGR MKLTQTDELG ALLAVLKKFM FHGLPGLNIE MPTVLYPTPL PQYDGRTPIK
PQQSESSASR PTLNKKKKSK VKPKKIQQGE EEEKESSGEI EAAPVTGTGR VNLHEGNTWC
PSSLGVQSLP LDGSGAAEKD GVSSSFSSSS WKRVSSSESD FSDAEGGMQS KMRSYQAKVR
QGALVCFLST IKSIEKKVLY GYWSAFIPDT PELGSPQSVS LMTLTLKDPS PKTRACALQV
LSAILEGSKQ FLSVAEDTSD HRRAFTPFSV MIACSIRELH RCLLLALVAE SSSQTVTQII
KCLANLVSNA PYDRLKLSLL TKVWNQIKPY IRHKDVNVRV SSLTLLGAIV STHAPLPEVQ
LLLQQPCSSG LGNSNSATPH LSPPDWWKKA PAGPSLEETS VSSPKGSSEP CWLIRLCISI
VVLPKEDSCS GSDAGSAAGS TYEPSPMRLE ALQVLTLLAR GYFSMTQAYL MELGEVICKC
MGEADPSIQL HGAKLLEELG TGLIQQYKPD STAAPDQRAP VFLVVMFWTM MLNGPLPRAL
QNSEHPTLQA SACDALSSIL PEAFSNLPND RQMLCITVLL GLNDSKNRLV KAATSRALGV
YVLFPCLRQD VIFVADAANA ILMSLEDKSL NVRAKAAWSL GNLTDTLIVN METPDPSFQE
EFSGLLLLKM LRSAIEASKD KDKVKSNAVR ALGNLLHFLQ PSHIEKPTFA EIIEESIQAL
ISTVLTEAAM KVRWNACYAM GNVFKNPALP LGTAPWTSQA YNALTSVVTS CKNFKVRIRS
AAALSVPGKR EQYGSVDQYA RIWNALVTAL QKSEDTIDFL EFKYCVSLRT QICQALIHLL
SLASASDLPC MKETLELSGN MVQSYILQFL KSGAEGDDTG APHSPQERDQ MVRMALKHMG
SIQAPTGDTA RRAIMGFLEE ILAVCFDSSG SQGALPGLTN Q
