Full text data of HEATR1
HEATR1
(BAP28)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
HEAT repeat-containing protein 1 (Protein BAP28; HEAT repeat-containing protein 1, N-terminally processed)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
HEAT repeat-containing protein 1 (Protein BAP28; HEAT repeat-containing protein 1, N-terminally processed)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
hRBCD
IPI00024279
IPI00024279 Protein BAP28 no information available soluble n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a not mentioned n/a found at its expected molecular weight found at molecular weight
IPI00024279 Protein BAP28 no information available soluble n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a not mentioned n/a found at its expected molecular weight found at molecular weight
UniProt
Q9H583
ID HEAT1_HUMAN Reviewed; 2144 AA.
AC Q9H583; Q5T3Q8; Q6P197; Q9NW23;
DT 01-JUN-2001, integrated into UniProtKB/Swiss-Prot.
read moreDT 19-JUL-2005, sequence version 3.
DT 22-JAN-2014, entry version 115.
DE RecName: Full=HEAT repeat-containing protein 1;
DE AltName: Full=Protein BAP28;
DE Contains:
DE RecName: Full=HEAT repeat-containing protein 1, N-terminally processed;
GN Name=HEATR1; Synonyms=BAP28;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS ARG-348; VAL-607; SER-1694;
RP ALA-1854; ASP-1967 AND GLY-2017.
RA Bougueleret L., Chumakov I., Barry C., Cohen-Akenine A.;
RT "A novel BAP28 gene and protein.";
RL Patent number WO0100669, 04-JAN-2001.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1039-2144, AND VARIANTS
RP SER-1694; ALA-1854; ASP-1967 AND GLY-2017.
RC TISSUE=Lymph;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1777-2144.
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION [LARGE
RP SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=12429849; DOI=10.1091/mbc.E02-05-0271;
RA Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C.,
RA Greco A., Hochstrasser D.F., Diaz J.-J.;
RT "Functional proteomic analysis of human nucleolus.";
RL Mol. Biol. Cell 13:4100-4109(2002).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III,
RA Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N.,
RA Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1190, AND MASS
RP SPECTROMETRY.
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
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1190, AND MASS
RP SPECTROMETRY.
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.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [9]
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.,
RA Buerckstuemmer T., 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 [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1 AND THR-2, MASS
RP SPECTROMETRY, AND CLEAVAGE OF INITIATOR METHIONINE.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [11]
RP VARIANT GLY-2017, AND MASS SPECTROMETRY.
RX PubMed=17488105; DOI=10.1021/pr0700908;
RA Bunger M.K., Cargile B.J., Sevinsky J.R., Deyanova E., Yates N.A.,
RA Hendrickson R.C., Stephenson J.L. Jr.;
RT "Detection and validation of non-synonymous coding SNPs from
RT orthogonal analysis of shotgun proteomics data.";
RL J. Proteome Res. 6:2331-2340(2007).
CC -!- FUNCTION: Involved in nucleolar processing of pre-18S ribosomal
CC RNA. Involved in ribosome biosynthesis (By similarity).
CC -!- INTERACTION:
CC Q76353:- (xeno); NbExp=3; IntAct=EBI-1048716, EBI-6248077;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus.
CC -!- SIMILARITY: Belongs to the HEATR1/UTP10 family.
CC -!- SIMILARITY: Contains 1 HEAT repeat.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91564.1; Type=Erroneous initiation;
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DR EMBL; AX067150; CAC26776.1; -; mRNA.
DR EMBL; AL359921; CAI13775.1; -; Genomic_DNA.
DR EMBL; BC065205; AAH65205.1; -; mRNA.
DR EMBL; AK001221; BAA91564.1; ALT_INIT; mRNA.
DR RefSeq; NP_060542.4; NM_018072.5.
DR UniGene; Hs.708114; -.
DR ProteinModelPortal; Q9H583; -.
DR IntAct; Q9H583; 8.
DR MINT; MINT-2817924; -.
DR STRING; 9606.ENSP00000355541; -.
DR PhosphoSite; Q9H583; -.
DR DMDM; 71153494; -.
DR SWISS-2DPAGE; Q9H583; -.
DR PaxDb; Q9H583; -.
DR PRIDE; Q9H583; -.
DR Ensembl; ENST00000366582; ENSP00000355541; ENSG00000119285.
DR GeneID; 55127; -.
DR KEGG; hsa:55127; -.
DR UCSC; uc001hyd.2; human.
DR CTD; 55127; -.
DR GeneCards; GC01M236712; -.
DR H-InvDB; HIX0001726; -.
DR HGNC; HGNC:25517; HEATR1.
DR HPA; HPA046917; -.
DR neXtProt; NX_Q9H583; -.
DR PharmGKB; PA142671697; -.
DR eggNOG; NOG116525; -.
DR HOGENOM; HOG000007886; -.
DR HOVERGEN; HBG050660; -.
DR InParanoid; Q9H583; -.
DR KO; K14550; -.
DR OMA; TMEDTFV; -.
DR OrthoDB; EOG75B84D; -.
DR PhylomeDB; Q9H583; -.
DR ChiTaRS; HEATR1; human.
DR GeneWiki; HEATR1; -.
DR GenomeRNAi; 55127; -.
DR NextBio; 58786; -.
DR PRO; PR:Q9H583; -.
DR ArrayExpress; Q9H583; -.
DR Bgee; Q9H583; -.
DR CleanEx; HS_HEATR1; -.
DR Genevestigator; Q9H583; -.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0030529; C:ribonucleoprotein complex; IEA:UniProtKB-KW.
DR GO; GO:0006364; P:rRNA processing; IEA:UniProtKB-KW.
DR Gene3D; 1.25.10.10; -; 7.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR012954; BP28_C_dom.
DR InterPro; IPR022125; U3snoRNP10.
DR Pfam; PF08146; BP28CT; 1.
DR Pfam; PF12397; U3snoRNP10; 1.
DR SMART; SM01036; BP28CT; 1.
DR SUPFAM; SSF48371; SSF48371; 8.
DR PROSITE; PS50077; HEAT_REPEAT; FALSE_NEG.
PE 1: Evidence at protein level;
KW Acetylation; Complete proteome; Nucleus; Phosphoprotein; Polymorphism;
KW Reference proteome; Ribonucleoprotein; Ribosome biogenesis;
KW rRNA processing.
FT CHAIN 1 2144 HEAT repeat-containing protein 1.
FT /FTId=PRO_0000186201.
FT INIT_MET 1 1 Removed; alternate.
FT CHAIN 2 2144 HEAT repeat-containing protein 1, N-
FT terminally processed.
FT /FTId=PRO_0000424485.
FT REPEAT 2106 2142 HEAT.
FT MOD_RES 1 1 N-acetylmethionine.
FT MOD_RES 2 2 N-acetylthreonine; in HEAT repeat-
FT containing protein 1, N-terminally
FT processed.
FT MOD_RES 1190 1190 Phosphoserine.
FT VARIANT 348 348 H -> R (in dbSNP:rs2794751).
FT /FTId=VAR_049329.
FT VARIANT 607 607 M -> V (in dbSNP:rs2794763).
FT /FTId=VAR_049330.
FT VARIANT 957 957 D -> G (in dbSNP:rs16833953).
FT /FTId=VAR_049331.
FT VARIANT 1433 1433 Y -> C (in dbSNP:rs653737).
FT /FTId=VAR_049332.
FT VARIANT 1559 1559 S -> N (in dbSNP:rs6661946).
FT /FTId=VAR_049333.
FT VARIANT 1654 1654 R -> H (in dbSNP:rs16833884).
FT /FTId=VAR_049334.
FT VARIANT 1694 1694 N -> S (in dbSNP:rs2275689).
FT /FTId=VAR_010939.
FT VARIANT 1854 1854 V -> A (in dbSNP:rs1885533).
FT /FTId=VAR_010940.
FT VARIANT 1967 1967 N -> D (in dbSNP:rs1126627).
FT /FTId=VAR_010941.
FT VARIANT 2017 2017 E -> G (polymorphism confirmed at protein
FT level; dbSNP:rs2275687).
FT /FTId=VAR_010942.
FT VARIANT 2077 2077 S -> L (in dbSNP:rs6664730).
FT /FTId=VAR_049335.
SQ SEQUENCE 2144 AA; 242370 MW; 7590EEA17A5FF39D CRC64;
MTSLAQQLQR LALPQSDASL LSRDEVASLL FDPKEAATID RDTAFAIGCT GLEELLGIDP
SFEQFEAPLF SQLAKTLERS VQTKAVNKQL DENISLFLIH LSPYFLLKPA QKCLEWLIHR
FHIHLYNQDS LIACVLPYHE TRIFVRVIQL LKINNSKHRW FWLLPVKQSG VPLAKGTLIT
HCYKDLGFMD FICSLVTKSV KVFAEYPGSS AQLRVLLAFY ASTIVSALVA AEDVSDNIIA
KLFPYIQKGL KSSLPDYRAA TYMIICQISV KVTMENTFVN SLASQIIKTL TKIPSLIKDG
LSCLIVLLQR QKPESLGKKP FPHLCNVPDL ITILHGISET YDVSPLLHYM LPHLVVSIIH
HVTGEETEGM DGQIYKRHLE AILTKISLKN NLDHLLASLL FEEYISYSSQ EEMDSNKVSL
LNEQFLPLIR LLESKYPRTL DVVLEEHLKE IADLKKQELF HQFVSLSTSG GKYQFLADSD
TSLMLSLNHP LAPVRILAMN HLKKIMKTSK EGVDESFIKE AVLARLGDDN IDVVLSAISA
FEIFKEHFSS EVTISNLLNL FQRAELSKNG EWYEVLKIAA DILIKEEILS ENDQLSNQVV
VCLLPFMVIN NDDTESAEMK IAIYLSKSGI CSLHPLLRGW EEALENVIKS TKPGKLIGVA
NQKMIELLAD NINLGDPSSM LKMVEDLISV GEEESFNLKQ KVTFHVILSV LVSCCSSLKE
THFPFAIRVF SLLQKKIKKL ESVITAVEIP SEWHIELMLD RGIPVELWAH YVEELNSTQR
VAVEDSVFLV FSLKKFIYAL KAPKSFPKGD IWWNPEQLKE DSRDYLHLLI GLFEMMLNGA
DAVHFRVLMK LFIKVHLEDV FQLFKFCSVL WTYGSSLSNP LNCSVKTVLQ TQALYVGCAM
LSSQKTQCKH QLASISSPVV TSLLINLGSP VKEVRRAAIQ CLQALSGVAS PFYLIIDHLI
SKAEEITSDA AYVIQDLATL FEELQREKKL KSHQKLSETL KNLLSCVYSC PSYIAKDLMK
VLQGVNGEMV LSQLLPMAEQ LLEKIQKEPT AVLKDEAMVL HLTLGKYNEF SVSLLNEDPK
SLDIFIKAVH TTKELYAGMP TIQITALEKI TKPFFAAISD EKVQQKLLRM LFDLLVNCKN
SHCAQTVSSV FKGISVNAEQ VRIELEPPDK AKPLGTVQQK RRQKMQQKKS QDLESVQEVG
GSYWQRVTLI LELLQHKKKL RSPQILVPTL FNLLSRCLEP LPQEQGNMEY TKQLILSCLL
NICQKLSPDG GKIPKDILDE EKFNVELIVQ CIRLSEMPQT HHHALLLLGT VAGIFPDKVL
HNIMSIFTFM GANVMRLDDT YSFQVINKTV KMVIPALIQS DSGDSIEVSR NVEEIVVKII
SVFVDALPHV PEHRRLPILV QLVDTLGAEK FLWILLILLF EQYVTKTVLA AAYGEKDAIL
EADTEFWFSV CCEFSVQHQI QSLMNILQYL LKLPEEKEET IPKAVSFNKS ESQEEMLQVF
NVETHTSKQL RHFKFLSVSF MSQLLSSNNF LKKVVESGGP EILKGLEERL LETVLGYISA
VAQSMERNAD KLTVKFWRAL LSKAYDLLDK VNALLPTETF IPVIRGLVGN PLPSVRRKAL
DLLNNKLQQN ISWKKTIVTR FLKLVPDLLA IVQRKKKEGE EEQAINRQTA LYTLKLLCKN
FGAENPDPFV PVLNTAVKLI APERKEEKNV LGSALLCIAE VTSTLEALAI PQLPSLMPSL
LTTMKNTSEL VSSEVYLLSA LAALQKVVET LPHFISPYLE GILSQVIHLE KITSEMGSAS
QANIRLTSLK KTLATTLAPR VLLPAIKKTY KQIEKNWKNH MGPFMSILQE HIGVMKKEEL
TSHQSQLTAF FLEALDFRAQ HSENDLEEVG KTENCIIDCL VAMVVKLSEV TFRPLFFKLF
DWAKTEDAPK DRLLTFYNLA DCIAEKLKGL FTLFAGHLVK PFADTLNQVN ISKTDEAFFD
SENDPEKCCL LLQFILNCLY KIFLFDTQHF ISKERAEALM MPLVDQLENR LGGEEKFQER
VTKHLIPCIA QFSVAMADDS LWKPLNYQIL LKTRDSSPKV RFAALITVLA LAEKLKENYI
VLLPESIPFL AELMEDECEE VEHQCQKTIQ QLETVLGEPL QSYF
//
ID HEAT1_HUMAN Reviewed; 2144 AA.
AC Q9H583; Q5T3Q8; Q6P197; Q9NW23;
DT 01-JUN-2001, integrated into UniProtKB/Swiss-Prot.
read moreDT 19-JUL-2005, sequence version 3.
DT 22-JAN-2014, entry version 115.
DE RecName: Full=HEAT repeat-containing protein 1;
DE AltName: Full=Protein BAP28;
DE Contains:
DE RecName: Full=HEAT repeat-containing protein 1, N-terminally processed;
GN Name=HEATR1; Synonyms=BAP28;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS ARG-348; VAL-607; SER-1694;
RP ALA-1854; ASP-1967 AND GLY-2017.
RA Bougueleret L., Chumakov I., Barry C., Cohen-Akenine A.;
RT "A novel BAP28 gene and protein.";
RL Patent number WO0100669, 04-JAN-2001.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1039-2144, AND VARIANTS
RP SER-1694; ALA-1854; ASP-1967 AND GLY-2017.
RC TISSUE=Lymph;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1777-2144.
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION [LARGE
RP SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=12429849; DOI=10.1091/mbc.E02-05-0271;
RA Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C.,
RA Greco A., Hochstrasser D.F., Diaz J.-J.;
RT "Functional proteomic analysis of human nucleolus.";
RL Mol. Biol. Cell 13:4100-4109(2002).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III,
RA Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N.,
RA Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1190, AND MASS
RP SPECTROMETRY.
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
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1190, AND MASS
RP SPECTROMETRY.
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.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [9]
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.,
RA Buerckstuemmer T., 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 [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1 AND THR-2, MASS
RP SPECTROMETRY, AND CLEAVAGE OF INITIATOR METHIONINE.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [11]
RP VARIANT GLY-2017, AND MASS SPECTROMETRY.
RX PubMed=17488105; DOI=10.1021/pr0700908;
RA Bunger M.K., Cargile B.J., Sevinsky J.R., Deyanova E., Yates N.A.,
RA Hendrickson R.C., Stephenson J.L. Jr.;
RT "Detection and validation of non-synonymous coding SNPs from
RT orthogonal analysis of shotgun proteomics data.";
RL J. Proteome Res. 6:2331-2340(2007).
CC -!- FUNCTION: Involved in nucleolar processing of pre-18S ribosomal
CC RNA. Involved in ribosome biosynthesis (By similarity).
CC -!- INTERACTION:
CC Q76353:- (xeno); NbExp=3; IntAct=EBI-1048716, EBI-6248077;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus.
CC -!- SIMILARITY: Belongs to the HEATR1/UTP10 family.
CC -!- SIMILARITY: Contains 1 HEAT repeat.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91564.1; Type=Erroneous initiation;
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DR EMBL; AX067150; CAC26776.1; -; mRNA.
DR EMBL; AL359921; CAI13775.1; -; Genomic_DNA.
DR EMBL; BC065205; AAH65205.1; -; mRNA.
DR EMBL; AK001221; BAA91564.1; ALT_INIT; mRNA.
DR RefSeq; NP_060542.4; NM_018072.5.
DR UniGene; Hs.708114; -.
DR ProteinModelPortal; Q9H583; -.
DR IntAct; Q9H583; 8.
DR MINT; MINT-2817924; -.
DR STRING; 9606.ENSP00000355541; -.
DR PhosphoSite; Q9H583; -.
DR DMDM; 71153494; -.
DR SWISS-2DPAGE; Q9H583; -.
DR PaxDb; Q9H583; -.
DR PRIDE; Q9H583; -.
DR Ensembl; ENST00000366582; ENSP00000355541; ENSG00000119285.
DR GeneID; 55127; -.
DR KEGG; hsa:55127; -.
DR UCSC; uc001hyd.2; human.
DR CTD; 55127; -.
DR GeneCards; GC01M236712; -.
DR H-InvDB; HIX0001726; -.
DR HGNC; HGNC:25517; HEATR1.
DR HPA; HPA046917; -.
DR neXtProt; NX_Q9H583; -.
DR PharmGKB; PA142671697; -.
DR eggNOG; NOG116525; -.
DR HOGENOM; HOG000007886; -.
DR HOVERGEN; HBG050660; -.
DR InParanoid; Q9H583; -.
DR KO; K14550; -.
DR OMA; TMEDTFV; -.
DR OrthoDB; EOG75B84D; -.
DR PhylomeDB; Q9H583; -.
DR ChiTaRS; HEATR1; human.
DR GeneWiki; HEATR1; -.
DR GenomeRNAi; 55127; -.
DR NextBio; 58786; -.
DR PRO; PR:Q9H583; -.
DR ArrayExpress; Q9H583; -.
DR Bgee; Q9H583; -.
DR CleanEx; HS_HEATR1; -.
DR Genevestigator; Q9H583; -.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0030529; C:ribonucleoprotein complex; IEA:UniProtKB-KW.
DR GO; GO:0006364; P:rRNA processing; IEA:UniProtKB-KW.
DR Gene3D; 1.25.10.10; -; 7.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR012954; BP28_C_dom.
DR InterPro; IPR022125; U3snoRNP10.
DR Pfam; PF08146; BP28CT; 1.
DR Pfam; PF12397; U3snoRNP10; 1.
DR SMART; SM01036; BP28CT; 1.
DR SUPFAM; SSF48371; SSF48371; 8.
DR PROSITE; PS50077; HEAT_REPEAT; FALSE_NEG.
PE 1: Evidence at protein level;
KW Acetylation; Complete proteome; Nucleus; Phosphoprotein; Polymorphism;
KW Reference proteome; Ribonucleoprotein; Ribosome biogenesis;
KW rRNA processing.
FT CHAIN 1 2144 HEAT repeat-containing protein 1.
FT /FTId=PRO_0000186201.
FT INIT_MET 1 1 Removed; alternate.
FT CHAIN 2 2144 HEAT repeat-containing protein 1, N-
FT terminally processed.
FT /FTId=PRO_0000424485.
FT REPEAT 2106 2142 HEAT.
FT MOD_RES 1 1 N-acetylmethionine.
FT MOD_RES 2 2 N-acetylthreonine; in HEAT repeat-
FT containing protein 1, N-terminally
FT processed.
FT MOD_RES 1190 1190 Phosphoserine.
FT VARIANT 348 348 H -> R (in dbSNP:rs2794751).
FT /FTId=VAR_049329.
FT VARIANT 607 607 M -> V (in dbSNP:rs2794763).
FT /FTId=VAR_049330.
FT VARIANT 957 957 D -> G (in dbSNP:rs16833953).
FT /FTId=VAR_049331.
FT VARIANT 1433 1433 Y -> C (in dbSNP:rs653737).
FT /FTId=VAR_049332.
FT VARIANT 1559 1559 S -> N (in dbSNP:rs6661946).
FT /FTId=VAR_049333.
FT VARIANT 1654 1654 R -> H (in dbSNP:rs16833884).
FT /FTId=VAR_049334.
FT VARIANT 1694 1694 N -> S (in dbSNP:rs2275689).
FT /FTId=VAR_010939.
FT VARIANT 1854 1854 V -> A (in dbSNP:rs1885533).
FT /FTId=VAR_010940.
FT VARIANT 1967 1967 N -> D (in dbSNP:rs1126627).
FT /FTId=VAR_010941.
FT VARIANT 2017 2017 E -> G (polymorphism confirmed at protein
FT level; dbSNP:rs2275687).
FT /FTId=VAR_010942.
FT VARIANT 2077 2077 S -> L (in dbSNP:rs6664730).
FT /FTId=VAR_049335.
SQ SEQUENCE 2144 AA; 242370 MW; 7590EEA17A5FF39D CRC64;
MTSLAQQLQR LALPQSDASL LSRDEVASLL FDPKEAATID RDTAFAIGCT GLEELLGIDP
SFEQFEAPLF SQLAKTLERS VQTKAVNKQL DENISLFLIH LSPYFLLKPA QKCLEWLIHR
FHIHLYNQDS LIACVLPYHE TRIFVRVIQL LKINNSKHRW FWLLPVKQSG VPLAKGTLIT
HCYKDLGFMD FICSLVTKSV KVFAEYPGSS AQLRVLLAFY ASTIVSALVA AEDVSDNIIA
KLFPYIQKGL KSSLPDYRAA TYMIICQISV KVTMENTFVN SLASQIIKTL TKIPSLIKDG
LSCLIVLLQR QKPESLGKKP FPHLCNVPDL ITILHGISET YDVSPLLHYM LPHLVVSIIH
HVTGEETEGM DGQIYKRHLE AILTKISLKN NLDHLLASLL FEEYISYSSQ EEMDSNKVSL
LNEQFLPLIR LLESKYPRTL DVVLEEHLKE IADLKKQELF HQFVSLSTSG GKYQFLADSD
TSLMLSLNHP LAPVRILAMN HLKKIMKTSK EGVDESFIKE AVLARLGDDN IDVVLSAISA
FEIFKEHFSS EVTISNLLNL FQRAELSKNG EWYEVLKIAA DILIKEEILS ENDQLSNQVV
VCLLPFMVIN NDDTESAEMK IAIYLSKSGI CSLHPLLRGW EEALENVIKS TKPGKLIGVA
NQKMIELLAD NINLGDPSSM LKMVEDLISV GEEESFNLKQ KVTFHVILSV LVSCCSSLKE
THFPFAIRVF SLLQKKIKKL ESVITAVEIP SEWHIELMLD RGIPVELWAH YVEELNSTQR
VAVEDSVFLV FSLKKFIYAL KAPKSFPKGD IWWNPEQLKE DSRDYLHLLI GLFEMMLNGA
DAVHFRVLMK LFIKVHLEDV FQLFKFCSVL WTYGSSLSNP LNCSVKTVLQ TQALYVGCAM
LSSQKTQCKH QLASISSPVV TSLLINLGSP VKEVRRAAIQ CLQALSGVAS PFYLIIDHLI
SKAEEITSDA AYVIQDLATL FEELQREKKL KSHQKLSETL KNLLSCVYSC PSYIAKDLMK
VLQGVNGEMV LSQLLPMAEQ LLEKIQKEPT AVLKDEAMVL HLTLGKYNEF SVSLLNEDPK
SLDIFIKAVH TTKELYAGMP TIQITALEKI TKPFFAAISD EKVQQKLLRM LFDLLVNCKN
SHCAQTVSSV FKGISVNAEQ VRIELEPPDK AKPLGTVQQK RRQKMQQKKS QDLESVQEVG
GSYWQRVTLI LELLQHKKKL RSPQILVPTL FNLLSRCLEP LPQEQGNMEY TKQLILSCLL
NICQKLSPDG GKIPKDILDE EKFNVELIVQ CIRLSEMPQT HHHALLLLGT VAGIFPDKVL
HNIMSIFTFM GANVMRLDDT YSFQVINKTV KMVIPALIQS DSGDSIEVSR NVEEIVVKII
SVFVDALPHV PEHRRLPILV QLVDTLGAEK FLWILLILLF EQYVTKTVLA AAYGEKDAIL
EADTEFWFSV CCEFSVQHQI QSLMNILQYL LKLPEEKEET IPKAVSFNKS ESQEEMLQVF
NVETHTSKQL RHFKFLSVSF MSQLLSSNNF LKKVVESGGP EILKGLEERL LETVLGYISA
VAQSMERNAD KLTVKFWRAL LSKAYDLLDK VNALLPTETF IPVIRGLVGN PLPSVRRKAL
DLLNNKLQQN ISWKKTIVTR FLKLVPDLLA IVQRKKKEGE EEQAINRQTA LYTLKLLCKN
FGAENPDPFV PVLNTAVKLI APERKEEKNV LGSALLCIAE VTSTLEALAI PQLPSLMPSL
LTTMKNTSEL VSSEVYLLSA LAALQKVVET LPHFISPYLE GILSQVIHLE KITSEMGSAS
QANIRLTSLK KTLATTLAPR VLLPAIKKTY KQIEKNWKNH MGPFMSILQE HIGVMKKEEL
TSHQSQLTAF FLEALDFRAQ HSENDLEEVG KTENCIIDCL VAMVVKLSEV TFRPLFFKLF
DWAKTEDAPK DRLLTFYNLA DCIAEKLKGL FTLFAGHLVK PFADTLNQVN ISKTDEAFFD
SENDPEKCCL LLQFILNCLY KIFLFDTQHF ISKERAEALM MPLVDQLENR LGGEEKFQER
VTKHLIPCIA QFSVAMADDS LWKPLNYQIL LKTRDSSPKV RFAALITVLA LAEKLKENYI
VLLPESIPFL AELMEDECEE VEHQCQKTIQ QLETVLGEPL QSYF
//