HTR5A_HUMAN
ID HTR5A_HUMAN Reviewed; 2040 AA.
AC Q86XA9; Q68DD8; Q6P3S5; Q6P5R9; Q9H8D7; Q9NXB7; Q9P2N0; Q9UFQ3;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=HEAT repeat-containing protein 5A;
GN Name=HEATR5A; Synonyms=C14orf125, KIAA1316;
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 GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [2]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 263-2040 (ISOFORM 1).
RC TISSUE=PNS, and Uterus;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 368-2040 (ISOFORM 2).
RC TISSUE=Amygdala, and Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 451-2040 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1172-1758 (ISOFORM 1).
RC TISSUE=Hepatoma, and Placenta;
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1110; THR-1115 AND SER-1647,
RP AND 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 [8]
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).
CC -!- INTERACTION:
CC Q86XA9-3; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-17981660, EBI-741158;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q86XA9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86XA9-2; Sequence=VSP_029686;
CC Name=3;
CC IsoId=Q86XA9-3; Sequence=VSP_029685;
CC -!- SIMILARITY: Belongs to the HEATR5 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91098.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL136418; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL139353; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471078; EAW65949.1; -; Genomic_DNA.
DR EMBL; BC045764; AAH45764.1; -; mRNA.
DR EMBL; BC062720; AAH62720.1; -; mRNA.
DR EMBL; BC063867; AAH63867.1; -; mRNA.
DR EMBL; AL117511; CAB55971.1; -; mRNA.
DR EMBL; CR749444; CAH18282.1; -; mRNA.
DR EMBL; AB037737; BAA92554.1; -; mRNA.
DR EMBL; AK000343; BAA91098.1; ALT_INIT; mRNA.
DR PIR; T17281; T17281.
DR RefSeq; NP_056288.2; NM_015473.3.
DR AlphaFoldDB; Q86XA9; -.
DR BioGRID; 117435; 20.
DR IntAct; Q86XA9; 6.
DR MINT; Q86XA9; -.
DR STRING; 9606.ENSP00000437968; -.
DR iPTMnet; Q86XA9; -.
DR PhosphoSitePlus; Q86XA9; -.
DR BioMuta; HEATR5A; -.
DR DMDM; 162416245; -.
DR EPD; Q86XA9; -.
DR jPOST; Q86XA9; -.
DR MassIVE; Q86XA9; -.
DR MaxQB; Q86XA9; -.
DR PaxDb; Q86XA9; -.
DR PeptideAtlas; Q86XA9; -.
DR PRIDE; Q86XA9; -.
DR ProteomicsDB; 70260; -. [Q86XA9-1]
DR ProteomicsDB; 70261; -. [Q86XA9-2]
DR ProteomicsDB; 70262; -. [Q86XA9-3]
DR Antibodypedia; 63890; 11 antibodies from 6 providers.
DR DNASU; 25938; -.
DR Ensembl; ENST00000382464.6; ENSP00000371903.2; ENSG00000129493.15. [Q86XA9-3]
DR GeneID; 25938; -.
DR KEGG; hsa:25938; -.
DR UCSC; uc001wrh.4; human. [Q86XA9-1]
DR CTD; 25938; -.
DR DisGeNET; 25938; -.
DR GeneCards; HEATR5A; -.
DR HGNC; HGNC:20276; HEATR5A.
DR HPA; ENSG00000129493; Low tissue specificity.
DR neXtProt; NX_Q86XA9; -.
DR OpenTargets; ENSG00000129493; -.
DR PharmGKB; PA162390632; -.
DR VEuPathDB; HostDB:ENSG00000129493; -.
DR eggNOG; KOG1822; Eukaryota.
DR GeneTree; ENSGT00390000006205; -.
DR InParanoid; Q86XA9; -.
DR OMA; GIVCAHV; -.
DR OrthoDB; 71064at2759; -.
DR PhylomeDB; Q86XA9; -.
DR PathwayCommons; Q86XA9; -.
DR SignaLink; Q86XA9; -.
DR BioGRID-ORCS; 25938; 3 hits in 241 CRISPR screens.
DR ChiTaRS; HEATR5A; human.
DR GenomeRNAi; 25938; -.
DR Pharos; Q86XA9; Tdark.
DR PRO; PR:Q86XA9; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q86XA9; protein.
DR Bgee; ENSG00000129493; Expressed in ventricular zone and 187 other tissues.
DR ExpressionAtlas; Q86XA9; baseline and differential.
DR GO; GO:0005829; C:cytosol; IEA:GOC.
DR GO; GO:0030139; C:endocytic vesicle; IBA:GO_Central.
DR GO; GO:0006897; P:endocytosis; IBA:GO_Central.
DR GO; GO:0008104; P:protein localization; IBA:GO_Central.
DR GO; GO:0042147; P:retrograde transport, endosome to Golgi; IBA:GO_Central.
DR Gene3D; 1.25.10.10; -; 4.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR040108; Laa1/Sip1/HEATR5.
DR PANTHER; PTHR21663; PTHR21663; 1.
DR SUPFAM; SSF48371; SSF48371; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..2040
FT /note="HEAT repeat-containing protein 5A"
FT /id="PRO_0000311990"
FT REPEAT 846..883
FT /note="HEAT 1"
FT REPEAT 1079..1116
FT /note="HEAT 2"
FT REGION 1646..1668
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1646..1664
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1110
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18691976"
FT MOD_RES 1115
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:18691976"
FT MOD_RES 1647
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18691976"
FT VAR_SEQ 114..2040
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029685"
FT VAR_SEQ 1741..1815
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_029686"
FT CONFLICT 429
FT /note="L -> P (in Ref. 4; CAH18282)"
FT /evidence="ECO:0000305"
FT CONFLICT 880
FT /note="V -> M (in Ref. 3; AAH45764, 4; CAH18282 and 5;
FT BAA92554)"
FT /evidence="ECO:0000305"
FT CONFLICT 1199
FT /note="S -> P (in Ref. 6; BAA91098)"
FT /evidence="ECO:0000305"
FT CONFLICT 1257
FT /note="N -> T (in Ref. 3; AAH63867)"
FT /evidence="ECO:0000305"
FT CONFLICT 1525
FT /note="R -> T (in Ref. 4; CAH18282)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2040 AA; 222004 MW; E6598AA06A7D51DB CRC64;
MELAHSLLLN EEAYNQLGEV QKAEFIFEWL RYLEKLLLAT SRNDVREKQK TLVEQLLSLL
NSSPGPPTRK LLAKNLAILY SIGDTFSVHE AIDKCNDLIR SKDDSPSYLP TKLAAVVCLG
SLYKKLGRIL GNTFTDTVGN ILKAMKSAES QGRYEIMLSL QNILNGLGAA AAPCHRDVYK
AARSCLTDRS MAVRCAAAKN EAIFMWSTDL DSVATLCFKS FEGSNYDVRI SVSKLLGIIL
AKAVISKHPG TAASRQSIRR VSLEEVLELL GTGFLRGSSG FLRASGDMLK GTSSVSRDVR
VGVTQAYVVF VSTLGGAWLE KNFAAFFSHI LSLASPSHPK ATQTQIDAVC CRRCVSFILR
TTIGGLLGEK AQLAAVKDIC QAIWKLKKVM DAVMSDGNLE TRLGSTDVAA SQHMLVCALQ
ELGNLIHNLG TTAAPLLQDS STGLLDSILS VILHPSISVR LAAAWCLHCI AVALPSYLTP
LLDRCLERLT GHKSSPEAVT GFSFAVAALL GAVKHCPLGI PHGKGKIIMT LAEDLLCSAA
QNSRLSAQRT QAGWLLISAL MTLGPAVVSH HLARVLLLWK CVFPASPKDL ETEKSRGDSF
TWQVTLEGRA GALCAIKSFV SHCGDLLTEE VTQRLLPPLP CAVDLLTQLS SILKMYGSPL
KTPSVVYRQR LYELLILLPP ETYEGNLCAI LRELAADLTA PDIQVAASTF LLPPLCHQDD
LLILSPFLQE TDHRFIEEQL LLGNGVACGS LEYDPYSIYE KDVEGDSVPK PLPPALSVIS
SASKLFGVVC AHVGETQRLL ILEQLLDSIK HTKGARQQVV QLHVVSSVSS FLKYVAGSKG
CLGPEEMKRF ALTLVMGALE SPNPLLRCAA AESWARLAQV VDDGAFTAGL AQVSFDKLKS
ARDVVTRTGH SLALGSLHRY LGGISSSQHL NSCIGILYTL AQDSTSPDVQ TWALHSLSLI
IDSAGPLYYV HVEPTLSLII MLLLNVPPTH AEVHQSLGRC LNALITTLGP ELQGNSTSIS
TLRTSCLLGC AVMQDNPDCL VQAQAISCLQ QLHMFAPRHV NLSSLVSCLC VNLCSPYLLL
RRAVLACLRQ LVQREAAEVS EHAVMLAKDS REELTPDANI REVGLEGALL ILLDKETDER
LCHDIKETLN YMLTSMAVEK LSLWLKLCKD VLAASADFTA VTCVDTMQEE EGDKGDDASV
LTTRRDEKSH PFTNPRWATR VFAAECVCRI INQCENANSA HFDIALAQEM KKRDSRNDFL
VLHLADLIRM AFMAATDHSD QLRLSGLEML LVVIRRFATV PEPEFPGHVI LEQYQANVGA
ALRPAFTSET PPDVTAKACQ VCSAWIASGV VSDLNDLRRV HQLLVSSLTK IQAGKEALSH
LYNESASTME ILAVLKAWAE VYIIAVQRHK NHRQPLKTTT CLEDGIRNGS CSSDGLLDLV
YADLGTLSRL WLAALQDFAL LTLPSEFASQ LPAEGGAFYT AETSENAKLH YYNSWALILH
ATALWLTSTG FVVADPDEGA SNLSRPVTPT SMCQGSSSGA TIKSPEDVYT DRFHLILGIS
VEFLCSLRSD ATMESITACL HALQALLDVP WPRSKIGSDQ DLGIELLNVL HRVILTRESP
SIQLASLEVV RQIICAAQEH VKEKRRSAEV DDGAAEKETL PEFGEGKDTG GLVPGKSLVF
ATLELCVCIL VRQLPELNPK LTGSPGVKAT KPQILLEDGS RLVSAALVIL SELPAVCSPE
GSISILPTIL YLTIGVLRET AVKLPGGQLS STVAASLQAL KGILSSPMAR AEKSRTAWTD
LLRSALTTIL DCWDPVDETH QELDEVSLLT AITVFILSTS PEVTTIPCLQ KRCIDKFKAT
LEIKDPVVQI KTYQLLHSIF QYPNPAVSYP YIYSLASCIM EKLQEIDKRK PENTAELEIF
QEGIKVLETL VTVAEEHHRA QLVACLLPIL ISFLLDENSL GSATSIMRNL HDFALQNLMQ
IGPQYSSVFK SLVASSPALK ARLEAAIKGN QESVKVKIPT SKYTKSPGKN SSIQLKTSFL
