HEAT9_HUMAN
ID HEAT9_HUMAN Reviewed; 570 AA.
AC A2RTY3; B4DX21; B4DXA4; B4DXF0; Q8N4R4; Q96M46;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 03-MAR-2009, sequence version 2.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Protein HEATR9;
DE AltName: Full=HEAT repeat-containing protein 9;
GN Name=HEATR9; Synonyms=C17orf66;
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; 3; 4 AND 5), AND
RP VARIANT PHE-480.
RC TISSUE=Testis;
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=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and 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 [4]
RP VARIANT [LARGE SCALE ANALYSIS] MET-330.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- INTERACTION:
CC A2RTY3; Q9Y5R4: HEMK1; NbExp=3; IntAct=EBI-13049042, EBI-10329202;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=A2RTY3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A2RTY3-2; Sequence=VSP_025349, VSP_025350;
CC Name=3;
CC IsoId=A2RTY3-3; Sequence=VSP_036494;
CC Name=4;
CC IsoId=A2RTY3-4; Sequence=VSP_036493, VSP_036495, VSP_036496;
CC Name=5;
CC IsoId=A2RTY3-5; Sequence=VSP_036493, VSP_036494, VSP_036495,
CC VSP_036496;
CC -!- CAUTION: Despite its name, the presence of HEAT repeat is unsure and is
CC not confirmed by repeat-detection programs. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK057392; BAB71466.1; -; mRNA.
DR EMBL; AK301774; BAG63233.1; -; mRNA.
DR EMBL; AK301884; BAG63316.1; -; mRNA.
DR EMBL; AK301943; BAG63362.1; -; mRNA.
DR EMBL; AC015849; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC033734; AAH33734.1; -; mRNA.
DR EMBL; BC132681; AAI32682.1; -; mRNA.
DR CCDS; CCDS11299.1; -. [A2RTY3-1]
DR CCDS; CCDS82108.1; -. [A2RTY3-3]
DR RefSeq; NP_001308324.1; NM_001321395.1. [A2RTY3-3]
DR RefSeq; NP_689994.2; NM_152781.3. [A2RTY3-1]
DR AlphaFoldDB; A2RTY3; -.
DR SMR; A2RTY3; -.
DR BioGRID; 129186; 2.
DR IntAct; A2RTY3; 2.
DR STRING; 9606.ENSP00000473941; -.
DR iPTMnet; A2RTY3; -.
DR PhosphoSitePlus; A2RTY3; -.
DR BioMuta; HEATR9; -.
DR jPOST; A2RTY3; -.
DR MassIVE; A2RTY3; -.
DR PaxDb; A2RTY3; -.
DR PeptideAtlas; A2RTY3; -.
DR PRIDE; A2RTY3; -.
DR Antibodypedia; 73233; 99 antibodies from 15 providers.
DR DNASU; 256957; -.
DR Ensembl; ENST00000603852.5; ENSP00000474899.1; ENSG00000270379.6. [A2RTY3-4]
DR Ensembl; ENST00000603870.5; ENSP00000473760.1; ENSG00000270379.6. [A2RTY3-3]
DR Ensembl; ENST00000604834.6; ENSP00000473941.1; ENSG00000270379.6. [A2RTY3-1]
DR Ensembl; ENST00000605080.5; ENSP00000474893.1; ENSG00000270379.6. [A2RTY3-5]
DR Ensembl; ENST00000614305.2; ENSP00000479676.1; ENSG00000276986.2. [A2RTY3-1]
DR Ensembl; ENST00000632179.1; ENSP00000488053.1; ENSG00000276986.2. [A2RTY3-5]
DR Ensembl; ENST00000632969.1; ENSP00000488224.1; ENSG00000276986.2. [A2RTY3-3]
DR Ensembl; ENST00000633642.1; ENSP00000487778.1; ENSG00000276986.2. [A2RTY3-4]
DR GeneID; 256957; -.
DR KEGG; hsa:256957; -.
DR MANE-Select; ENST00000604834.6; ENSP00000473941.1; NM_152781.4; NP_689994.2.
DR UCSC; uc002hke.2; human. [A2RTY3-1]
DR CTD; 256957; -.
DR DisGeNET; 256957; -.
DR GeneCards; HEATR9; -.
DR HGNC; HGNC:26548; HEATR9.
DR HPA; ENSG00000270379; Tissue enriched (testis).
DR neXtProt; NX_A2RTY3; -.
DR OpenTargets; ENSG00000270379; -.
DR PharmGKB; PA142672249; -.
DR VEuPathDB; HostDB:ENSG00000270379; -.
DR eggNOG; ENOG502S0KU; Eukaryota.
DR GeneTree; ENSGT00390000007247; -.
DR HOGENOM; CLU_042745_1_0_1; -.
DR InParanoid; A2RTY3; -.
DR OMA; MEALWQV; -.
DR OrthoDB; 1319138at2759; -.
DR PhylomeDB; A2RTY3; -.
DR TreeFam; TF338240; -.
DR PathwayCommons; A2RTY3; -.
DR SignaLink; A2RTY3; -.
DR BioGRID-ORCS; 256957; 12 hits in 1059 CRISPR screens.
DR ChiTaRS; HEATR9; human.
DR GenomeRNAi; 256957; -.
DR Pharos; A2RTY3; Tdark.
DR PRO; PR:A2RTY3; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; A2RTY3; protein.
DR Bgee; ENSG00000270379; Expressed in left testis and 78 other tissues.
DR ExpressionAtlas; A2RTY3; baseline and differential.
DR Genevisible; A2RTY3; HS.
DR GO; GO:0002244; P:hematopoietic progenitor cell differentiation; IEA:Ensembl.
DR Gene3D; 1.25.10.10; -; 2.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..570
FT /note="Protein HEATR9"
FT /id="PRO_0000287176"
FT VAR_SEQ 1..34
FT /note="Missing (in isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036493"
FT VAR_SEQ 112..151
FT /note="Missing (in isoform 3 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036494"
FT VAR_SEQ 190..219
FT /note="AQTGPEKVKYEAYRTLAILGCLNKHVIRAL -> VSLRTAGVQERRKQGLRC
FT VACGHRRGSPGC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025349"
FT VAR_SEQ 220..570
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025350"
FT VAR_SEQ 410..414
FT /note="QLMNP -> NKRRK (in isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036495"
FT VAR_SEQ 415..570
FT /note="Missing (in isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036496"
FT VARIANT 330
FT /note="I -> M (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035685"
FT VARIANT 480
FT /note="S -> F (in dbSNP:rs2306630)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_032281"
FT CONFLICT 3
FT /note="Y -> C (in Ref. 3; AAI32682)"
FT /evidence="ECO:0000305"
FT CONFLICT 222
FT /note="Q -> R (in Ref. 1; BAB71466)"
FT /evidence="ECO:0000305"
FT CONFLICT 400
FT /note="K -> R (in Ref. 1; BAG63233)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 570 AA; 65681 MW; 9DA537D04033B2DA CRC64;
MAYEKSTDIS DVSRSMFLYP WLEYPDKTKE LRKAMAPVHL PLSCYQMPKE EFPPSPECWR
QHPSKPNSVP YCYFKKPEIY THWHDLYDQR EEREAEKMLR KMRDDCRYIK EVHQTHIKMF
HLPMSKLTIK SEMRSRPLEP TQDPLKWQRL RELTKSLESP REDEQFYAAQ ALGCLRISDK
FVMEALQQVA QTGPEKVKYE AYRTLAILGC LNKHVIRALI KQLKEKNEGQ RMETLTGLRM
ALNSWAAVSK DKRTQVGDEG KLVPVLQTLI KKSSSEASLE AALCLGFLRP CSNMVQEFLL
QCLCQGLKTQ RMKALRMLVK VMHVHSAPVI KAILDQLCSS SVLEDRFEAT QMLKTIGLEQ
IQAQGLEELT FNLLRRKTHN EPFLAVRQAV AQTVEELKLK PTMMNLVEAQ LMNPDATARQ
EAVISLGVLG IRSPQVFHLL LDLLDAENHQ AVKKSLQETL ILCASIDPWI QNKLKNKVLS
VYEAPKTNVK AEPTRFQKEP ENPEELTIQD FRLAKLNPLF IAKSITKVGQ KKTPAFPPCC
SKPRKHRPQV IGPWQPRIKK QLRVLAEIAK
