Q9H583 (HEAT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HEAT repeat-containing protein 1

Alternative name(s):
Protein BAP28

Gene names

Name:	HEATR1
Synonyms:	BAP28

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2144 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in ribosome biosynthesis By similarity.
Subcellular location	Nucleus › nucleolus Ref.5.
Sequence similarities	Belongs to the HEATR1/UTP10 family. Contains 1 HEAT repeat.
Sequence caution	The sequence BAA91564.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Ribosome biogenesis rRNA processing
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Molecular function	Ribonucleoprotein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	rRNA processing Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	mitochondrion Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA ribonucleoprotein complex Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
	Q76353	3	EBI-1048716,EBI-6248077	From a different organism.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2144	2144	HEAT repeat-containing protein 1		PRO_0000186201
Regions
	Repeat	2106 – 2142	37	HEAT
Amino acid modifications
	Modified residue	1190	1	Phosphoserine Ref.7 Ref.8
Natural variations
	Natural variant	348	1	H → R. Ref.1 Corresponds to variant rs2794751 [ dbSNP | Ensembl ].		VAR_049329
	Natural variant	607	1	M → V. Ref.1 Corresponds to variant rs2794763 [ dbSNP | Ensembl ].		VAR_049330
	Natural variant	957	1	D → G. Corresponds to variant rs16833953 [ dbSNP | Ensembl ].		VAR_049331
	Natural variant	1433	1	Y → C. Corresponds to variant rs653737 [ dbSNP | Ensembl ].		VAR_049332
	Natural variant	1559	1	S → N. Corresponds to variant rs6661946 [ dbSNP | Ensembl ].		VAR_049333
	Natural variant	1654	1	R → H. Corresponds to variant rs16833884 [ dbSNP | Ensembl ].		VAR_049334
	Natural variant	1694	1	N → S. Ref.1 Ref.3 Corresponds to variant rs2275689 [ dbSNP | Ensembl ].		VAR_010939
	Natural variant	1854	1	V → A. Ref.1 Ref.3 Corresponds to variant rs1885533 [ dbSNP | Ensembl ].		VAR_010940
	Natural variant	1967	1	N → D. Ref.1 Ref.3 Corresponds to variant rs1126627 [ dbSNP | Ensembl ].		VAR_010941
	Natural variant	2017	1	E → G Polymorphism confirmed at protein level. Ref.1 Ref.3 Ref.10 Corresponds to variant rs2275687 [ dbSNP | Ensembl ].		VAR_010942
	Natural variant	2077	1	S → L. Corresponds to variant rs6664730 [ dbSNP | Ensembl ].		VAR_049335

Sequences

	Sequence		Length	Mass (Da)
	Q9H583 [UniParc]. Last modified July 19, 2005. Version 3. Checksum: 7590EEA17A5FF39D	FASTA	2,144	242,370
	10 20 30 40 50 60 MTSLAQQLQR LALPQSDASL LSRDEVASLL FDPKEAATID RDTAFAIGCT GLEELLGIDP 70 80 90 100 110 120 SFEQFEAPLF SQLAKTLERS VQTKAVNKQL DENISLFLIH LSPYFLLKPA QKCLEWLIHR 130 140 150 160 170 180 FHIHLYNQDS LIACVLPYHE TRIFVRVIQL LKINNSKHRW FWLLPVKQSG VPLAKGTLIT 190 200 210 220 230 240 HCYKDLGFMD FICSLVTKSV KVFAEYPGSS AQLRVLLAFY ASTIVSALVA AEDVSDNIIA 250 260 270 280 290 300 KLFPYIQKGL KSSLPDYRAA TYMIICQISV KVTMENTFVN SLASQIIKTL TKIPSLIKDG 310 320 330 340 350 360 LSCLIVLLQR QKPESLGKKP FPHLCNVPDL ITILHGISET YDVSPLLHYM LPHLVVSIIH 370 380 390 400 410 420 HVTGEETEGM DGQIYKRHLE AILTKISLKN NLDHLLASLL FEEYISYSSQ EEMDSNKVSL 430 440 450 460 470 480 LNEQFLPLIR LLESKYPRTL DVVLEEHLKE IADLKKQELF HQFVSLSTSG GKYQFLADSD 490 500 510 520 530 540 TSLMLSLNHP LAPVRILAMN HLKKIMKTSK EGVDESFIKE AVLARLGDDN IDVVLSAISA 550 560 570 580 590 600 FEIFKEHFSS EVTISNLLNL FQRAELSKNG EWYEVLKIAA DILIKEEILS ENDQLSNQVV 610 620 630 640 650 660 VCLLPFMVIN NDDTESAEMK IAIYLSKSGI CSLHPLLRGW EEALENVIKS TKPGKLIGVA 670 680 690 700 710 720 NQKMIELLAD NINLGDPSSM LKMVEDLISV GEEESFNLKQ KVTFHVILSV LVSCCSSLKE 730 740 750 760 770 780 THFPFAIRVF SLLQKKIKKL ESVITAVEIP SEWHIELMLD RGIPVELWAH YVEELNSTQR 790 800 810 820 830 840 VAVEDSVFLV FSLKKFIYAL KAPKSFPKGD IWWNPEQLKE DSRDYLHLLI GLFEMMLNGA 850 860 870 880 890 900 DAVHFRVLMK LFIKVHLEDV FQLFKFCSVL WTYGSSLSNP LNCSVKTVLQ TQALYVGCAM 910 920 930 940 950 960 LSSQKTQCKH QLASISSPVV TSLLINLGSP VKEVRRAAIQ CLQALSGVAS PFYLIIDHLI 970 980 990 1000 1010 1020 SKAEEITSDA AYVIQDLATL FEELQREKKL KSHQKLSETL KNLLSCVYSC PSYIAKDLMK 1030 1040 1050 1060 1070 1080 VLQGVNGEMV LSQLLPMAEQ LLEKIQKEPT AVLKDEAMVL HLTLGKYNEF SVSLLNEDPK 1090 1100 1110 1120 1130 1140 SLDIFIKAVH TTKELYAGMP TIQITALEKI TKPFFAAISD EKVQQKLLRM LFDLLVNCKN 1150 1160 1170 1180 1190 1200 SHCAQTVSSV FKGISVNAEQ VRIELEPPDK AKPLGTVQQK RRQKMQQKKS QDLESVQEVG 1210 1220 1230 1240 1250 1260 GSYWQRVTLI LELLQHKKKL RSPQILVPTL FNLLSRCLEP LPQEQGNMEY TKQLILSCLL 1270 1280 1290 1300 1310 1320 NICQKLSPDG GKIPKDILDE EKFNVELIVQ CIRLSEMPQT HHHALLLLGT VAGIFPDKVL 1330 1340 1350 1360 1370 1380 HNIMSIFTFM GANVMRLDDT YSFQVINKTV KMVIPALIQS DSGDSIEVSR NVEEIVVKII 1390 1400 1410 1420 1430 1440 SVFVDALPHV PEHRRLPILV QLVDTLGAEK FLWILLILLF EQYVTKTVLA AAYGEKDAIL 1450 1460 1470 1480 1490 1500 EADTEFWFSV CCEFSVQHQI QSLMNILQYL LKLPEEKEET IPKAVSFNKS ESQEEMLQVF 1510 1520 1530 1540 1550 1560 NVETHTSKQL RHFKFLSVSF MSQLLSSNNF LKKVVESGGP EILKGLEERL LETVLGYISA 1570 1580 1590 1600 1610 1620 VAQSMERNAD KLTVKFWRAL LSKAYDLLDK VNALLPTETF IPVIRGLVGN PLPSVRRKAL 1630 1640 1650 1660 1670 1680 DLLNNKLQQN ISWKKTIVTR FLKLVPDLLA IVQRKKKEGE EEQAINRQTA LYTLKLLCKN 1690 1700 1710 1720 1730 1740 FGAENPDPFV PVLNTAVKLI APERKEEKNV LGSALLCIAE VTSTLEALAI PQLPSLMPSL 1750 1760 1770 1780 1790 1800 LTTMKNTSEL VSSEVYLLSA LAALQKVVET LPHFISPYLE GILSQVIHLE KITSEMGSAS 1810 1820 1830 1840 1850 1860 QANIRLTSLK KTLATTLAPR VLLPAIKKTY KQIEKNWKNH MGPFMSILQE HIGVMKKEEL 1870 1880 1890 1900 1910 1920 TSHQSQLTAF FLEALDFRAQ HSENDLEEVG KTENCIIDCL VAMVVKLSEV TFRPLFFKLF 1930 1940 1950 1960 1970 1980 DWAKTEDAPK DRLLTFYNLA DCIAEKLKGL FTLFAGHLVK PFADTLNQVN ISKTDEAFFD 1990 2000 2010 2020 2030 2040 SENDPEKCCL LLQFILNCLY KIFLFDTQHF ISKERAEALM MPLVDQLENR LGGEEKFQER 2050 2060 2070 2080 2090 2100 VTKHLIPCIA QFSVAMADDS LWKPLNYQIL LKTRDSSPKV RFAALITVLA LAEKLKENYI 2110 2120 2130 2140 VLLPESIPFL AELMEDECEE VEHQCQKTIQ QLETVLGEPL QSYF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel BAP28 gene and protein." Bougueleret L., Chumakov I., Barry C., Cohen-Akenine A. Patent number WO0100669, 04-JAN-2001 Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ARG-348; VAL-607; SER-1694; ALA-1854; ASP-1967 AND GLY-2017.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1039-2144, VARIANTS SER-1694; ALA-1854; ASP-1967 AND GLY-2017. Tissue: Lymph.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1777-2144.
[5]	"Functional proteomic analysis of human nucleolus." Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., Greco A., Hochstrasser D.F., Diaz J.-J. Mol. Biol. Cell 13:4100-4109(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[6]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney.
[7]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1190, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1190, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]	"Detection and validation of non-synonymous coding SNPs from orthogonal analysis of shotgun proteomics data." Bunger M.K., Cargile B.J., Sevinsky J.R., Deyanova E., Yates N.A., Hendrickson R.C., Stephenson J.L. Jr. J. Proteome Res. 6:2331-2340(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLY-2017, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AX067150 mRNA. Translation: CAC26776.1. AL359921 Genomic DNA. Translation: CAI13775.1. BC065205 mRNA. Translation: AAH65205.1. AK001221 mRNA. Translation: BAA91564.1. Different initiation.
IPI	IPI00024279.
RefSeq	NP_060542.4. NM_018072.5.
UniGene	Hs.708114.
3D structure databases
ProteinModelPortal	Q9H583.
SMR	Q9H583. Positions 491-537, 921-946, 1285-1319, 1710-1742, 2041-2138.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H583. 6 interactions.
MINT	MINT-2817924.
STRING	9606.ENSP00000355541.
PTM databases
PhosphoSite	Q9H583.
Polymorphism databases
DMDM	71153494.
2D gel databases
SWISS-2DPAGE	Q9H583.
Proteomic databases
PaxDb	Q9H583.
PRIDE	Q9H583.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000366582; ENSP00000355541; ENSG00000119285.
GeneID	55127.
KEGG	hsa:55127.
UCSC	uc001hyd.2. human.
Organism-specific databases
CTD	55127.
GeneCards	GC01M236712.
H-InvDB	HIX0001726.
HGNC	HGNC:25517. HEATR1.
HPA	HPA046917.
neXtProt	NX_Q9H583.
PharmGKB	PA142671697.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG116525.
HOGENOM	HOG000007886.
HOVERGEN	HBG050660.
InParanoid	Q9H583.
KO	K14550.
OMA	CQKTIQQ.
OrthoDB	EOG4TMR15.
PhylomeDB	Q9H583.
Gene expression databases
ArrayExpress	Q9H583.
Bgee	Q9H583.
CleanEx	HS_HEATR1.
Genevestigator	Q9H583.
GermOnline	ENSG00000119285. Homo sapiens.
Family and domain databases
Gene3D	1.25.10.10. 7 hits.
InterPro	IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR012954. BP28_C_dom. IPR022125. U3snoRNP10. [Graphical view]
Pfam	PF08146. BP28CT. 1 hit. PF12397. U3snoRNP10. 1 hit. [Graphical view]
SMART	SM01036. BP28CT. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 2 hits.
PROSITE	PS50077. HEAT_REPEAT. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	HEATR1. human.
GenomeRNAi	55127.
NextBio	58786.

Entry information

Entry name

HEAT1_HUMAN

Accession

Primary (citable) accession number: Q9H583
Secondary accession number(s): Q5T3Q8, Q6P197, Q9NW23

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 2001
Last sequence update:	July 19, 2005
Last modified:	May 29, 2013
This is version 110 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.