HEAT4_HUMAN
ID HEAT4_HUMAN Reviewed; 1026 AA.
AC Q86WZ0; B7Z7V9; E9KL41;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-SEP-2011, sequence version 2.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=HEAT repeat-containing protein 4;
GN Name=HEATR4;
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=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=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=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 NUCLEOTIDE SEQUENCE [MRNA] OF 48-1026.
RX PubMed=20736409; DOI=10.1074/mcp.m110.001719;
RA Li J., Liu F., Wang H., Liu X., Liu J., Li N., Wan F., Wang W., Zhang C.,
RA Jin S., Liu J., Zhu P., Liu Y.;
RT "Systematic mapping and functional analysis of a family of human epididymal
RT secretory sperm-located proteins.";
RL Mol. Cell. Proteomics 9:2517-2528(2010).
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH47590.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK302564; BAH13745.1; -; mRNA.
DR EMBL; AC005225; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005280; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC047590; AAH47590.1; ALT_SEQ; mRNA.
DR EMBL; GU727638; ADU87640.1; -; mRNA.
DR CCDS; CCDS9815.2; -.
DR RefSeq; NP_001207413.1; NM_001220484.1.
DR RefSeq; NP_976054.2; NM_203309.2.
DR RefSeq; XP_006720206.1; XM_006720143.2.
DR RefSeq; XP_011535062.1; XM_011536760.2.
DR RefSeq; XP_016876778.1; XM_017021289.1.
DR AlphaFoldDB; Q86WZ0; -.
DR SMR; Q86WZ0; -.
DR BioGRID; 134383; 2.
DR IntAct; Q86WZ0; 2.
DR STRING; 9606.ENSP00000450444; -.
DR iPTMnet; Q86WZ0; -.
DR PhosphoSitePlus; Q86WZ0; -.
DR BioMuta; HEATR4; -.
DR DMDM; 347595657; -.
DR MassIVE; Q86WZ0; -.
DR PaxDb; Q86WZ0; -.
DR PeptideAtlas; Q86WZ0; -.
DR PRIDE; Q86WZ0; -.
DR ProteomicsDB; 70215; -.
DR Antibodypedia; 171; 73 antibodies from 19 providers.
DR DNASU; 399671; -.
DR Ensembl; ENST00000334988.2; ENSP00000335447.2; ENSG00000187105.9.
DR Ensembl; ENST00000553558.6; ENSP00000450444.2; ENSG00000187105.9.
DR GeneID; 399671; -.
DR KEGG; hsa:399671; -.
DR MANE-Select; ENST00000553558.6; ENSP00000450444.2; NM_001220484.1; NP_001207413.1.
DR UCSC; uc021rwe.2; human.
DR CTD; 399671; -.
DR DisGeNET; 399671; -.
DR GeneCards; HEATR4; -.
DR HGNC; HGNC:16761; HEATR4.
DR HPA; ENSG00000187105; Tissue enhanced (brain, testis).
DR neXtProt; NX_Q86WZ0; -.
DR OpenTargets; ENSG00000187105; -.
DR PharmGKB; PA162390631; -.
DR VEuPathDB; HostDB:ENSG00000187105; -.
DR eggNOG; ENOG502QPUU; Eukaryota.
DR GeneTree; ENSGT00390000013207; -.
DR HOGENOM; CLU_012662_0_0_1; -.
DR InParanoid; Q86WZ0; -.
DR OMA; HQQYDWS; -.
DR OrthoDB; 991383at2759; -.
DR PhylomeDB; Q86WZ0; -.
DR TreeFam; TF329278; -.
DR PathwayCommons; Q86WZ0; -.
DR SignaLink; Q86WZ0; -.
DR BioGRID-ORCS; 399671; 9 hits in 1058 CRISPR screens.
DR ChiTaRS; HEATR4; human.
DR GenomeRNAi; 399671; -.
DR Pharos; Q86WZ0; Tdark.
DR PRO; PR:Q86WZ0; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q86WZ0; protein.
DR Bgee; ENSG00000187105; Expressed in right testis and 98 other tissues.
DR ExpressionAtlas; Q86WZ0; baseline and differential.
DR Genevisible; Q86WZ0; HS.
DR GO; GO:0016491; F:oxidoreductase activity; IBA:GO_Central.
DR Gene3D; 1.25.10.10; -; 2.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR000357; HEAT.
DR Pfam; PF02985; HEAT; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 2: Evidence at transcript level;
KW Reference proteome; Repeat.
FT CHAIN 1..1026
FT /note="HEAT repeat-containing protein 4"
FT /id="PRO_0000254129"
FT REPEAT 530..568
FT /note="HEAT 1"
FT REPEAT 724..760
FT /note="HEAT 2"
FT REPEAT 761..794
FT /note="HEAT 3"
FT REGION 135..175
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 142..156
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 634
FT /note="L -> H (in dbSNP:rs12894435)"
FT /id="VAR_028817"
FT VARIANT 643
FT /note="W -> G (in dbSNP:rs12894425)"
FT /id="VAR_028818"
FT VARIANT 660
FT /note="V -> A (in dbSNP:rs12894400)"
FT /id="VAR_028819"
SQ SEQUENCE 1026 AA; 117175 MW; 7B44D419F58A7B6A CRC64;
MTRTQKGKTF LPHCFYQSLP PRLGWGMILN YSKLKGKEEC ASVSSVPMVF FSSQYRLHRK
SQYLKMAAAN LTFSQEVVWQ RGLPSIPYSQ YSFDHLYNTN DIIHTPQIRK ARPQKPVSFK
FLGSSSPLTG DTSLAVKTES SANPEKKLKK SKPASTVREA PRPLIHHPCM HPDMLGRPPS
LDVNLEEREA WLLPPEKEAR AWEATVLEKL NERTARWIQS KRPRRPGASP NKWQSFLRQQ
YDWSHIRDEL TSASDLELLK QLEAEETAEF EDQSVILPPQ EKKKPELLLP VYYRLPSYFQ
QAETVEIMPG NKSTEDIHEK TSLSQPQTQS YFRQVTPRAG KFAYSTDNTF EQEIYFDEVQ
IIHQIGAKRD QIVLENLNRY NKQLSKVFPE TPEKWSAQAI PEASYRPVQG ALRWTALPTP
AKDMLLQVGE KDVPIKTRRL KKQAKSLQED VTWELVVLRR MLKEWKTAWA LIIEWHHETV
ENLLQSLGDL HDDVRIKAIT TCATAALERP RIATSQRDSD KTIQDLPEVL LPALEAALCD
KNAHVRMAAA ICQYAIQSHN PLARNIMQTA LLKGNSVDSW AAAQCLALEG TATYPVIKRI
LHQLFTKKNE DTEEQSYILL SYLSEKTTLI HTMLAVELNS CQWKNRIVAC QAFSRISGNV
CLDMKHKLIQ LMWNDWNKEV RRAAAQALGQ MSLGKEVHDI IRVKLGQGNS QERVEALYLI
GELKLMTAKL LPSFLHCFSD DFTAVRRAAC LAAGALQIRD KMVLECLLNL MQRDPYWKIK
AFAIRALGQI GQVSPELTDL LLWAIHYEES PGVRLEACRS ILALKLQGDR VRDTFLDVLL
LENHDAVLKE MYQTMKILNL GNEGNQEMLQ EIKNRIKTLS QKDLLTHKIL KLEMVMGKVR
EEAKRVYLKP KGEQGPLTLQ TLLQETFQDE MVLPRRPSEV CDTEAVIKPV KPRAPNPWLQ
SSVPGLTTRS KVRSSLVKDL RTSPEKRIAV GPFRSDYPAL YLGKFSERTF FSPIMSSPSG
KKGAHL
