JERKY_HUMAN
ID JERKY_HUMAN Reviewed; 556 AA.
AC O75564; D3DWI5; O75565; Q86XJ5;
DT 17-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 3.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Jerky protein homolog {ECO:0000305};
GN Name=JRK {ECO:0000312|HGNC:HGNC:6199};
GN Synonyms=JH8 {ECO:0000303|PubMed:9675132};
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=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
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 (SEP-2014) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=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 [MRNA] OF 141-556 (ISOFORM 1), NUCLEOTIDE SEQUENCE
RP [MRNA] OF 99-556 (ISOFORM 2), AND TISSUE SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=9675132; DOI=10.1006/bbrc.1998.8947;
RA Morita R., Miyazaki E., Fong C.-Y.G., Chen X.-N., Korenberg J.R.,
RA Delgado-Escueta A.V., Yamakawa K.;
RT "JH8, a gene highly homologous to the mouse jerky gene, maps to the region
RT for childhood absence epilepsy on 8q24.";
RL Biochem. Biophys. Res. Commun. 248:307-314(1998).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: May bind DNA. {ECO:0000250}.
CC -!- INTERACTION:
CC O75564; P35222: CTNNB1; NbExp=3; IntAct=EBI-8607681, EBI-491549;
CC O75564; P27782: Lef1; Xeno; NbExp=3; IntAct=EBI-8607681, EBI-984464;
CC O75564-2; P13196: ALAS1; NbExp=3; IntAct=EBI-17181882, EBI-3905054;
CC O75564-2; Q13895: BYSL; NbExp=3; IntAct=EBI-17181882, EBI-358049;
CC O75564-2; Q53TS8: C2CD6; NbExp=3; IntAct=EBI-17181882, EBI-739879;
CC O75564-2; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-17181882, EBI-10961624;
CC O75564-2; Q16543: CDC37; NbExp=3; IntAct=EBI-17181882, EBI-295634;
CC O75564-2; Q6P9H4: CNKSR3; NbExp=3; IntAct=EBI-17181882, EBI-10253274;
CC O75564-2; Q3B820: FAM161A; NbExp=3; IntAct=EBI-17181882, EBI-719941;
CC O75564-2; Q96EF6: FBXO17; NbExp=3; IntAct=EBI-17181882, EBI-2510157;
CC O75564-2; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-17181882, EBI-5916454;
CC O75564-2; O75031: HSF2BP; NbExp=3; IntAct=EBI-17181882, EBI-7116203;
CC O75564-2; Q12894-2: IFRD2; NbExp=3; IntAct=EBI-17181882, EBI-14102882;
CC O75564-2; O60341: KDM1A; NbExp=3; IntAct=EBI-17181882, EBI-710124;
CC O75564-2; O60684: KPNA6; NbExp=3; IntAct=EBI-17181882, EBI-359923;
CC O75564-2; O95751: LDOC1; NbExp=3; IntAct=EBI-17181882, EBI-740738;
CC O75564-2; Q8TCE9: LGALS14; NbExp=3; IntAct=EBI-17181882, EBI-10274069;
CC O75564-2; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-17181882, EBI-11522433;
CC O75564-2; Q17RL8: PDZD4; NbExp=3; IntAct=EBI-17181882, EBI-10239064;
CC O75564-2; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-17181882, EBI-79165;
CC O75564-2; Q96MT3: PRICKLE1; NbExp=3; IntAct=EBI-17181882, EBI-2348662;
CC O75564-2; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-17181882, EBI-1105213;
CC O75564-2; P67936: TPM4; NbExp=3; IntAct=EBI-17181882, EBI-1642100;
CC O75564-2; P36406: TRIM23; NbExp=3; IntAct=EBI-17181882, EBI-740098;
CC O75564-2; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-17181882, EBI-725997;
CC O75564-2; Q15642-2: TRIP10; NbExp=3; IntAct=EBI-17181882, EBI-6550597;
CC O75564-2; Q9BZW7: TSGA10; NbExp=3; IntAct=EBI-17181882, EBI-744794;
CC O75564-2; P42681: TXK; NbExp=3; IntAct=EBI-17181882, EBI-7877438;
CC O75564-2; O75604: USP2; NbExp=3; IntAct=EBI-17181882, EBI-743272;
CC O75564-2; Q5TAP6: UTP14C; NbExp=3; IntAct=EBI-17181882, EBI-11737646;
CC O75564-2; Q96BR9: ZBTB8A; NbExp=3; IntAct=EBI-17181882, EBI-742740;
CC O75564-2; Q6P1L6: ZNF343; NbExp=3; IntAct=EBI-17181882, EBI-10252492;
CC O75564-2; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-17181882, EBI-740727;
CC O75564-2; Q6ZNG0: ZNF620; NbExp=3; IntAct=EBI-17181882, EBI-4395669;
CC O75564-2; Q9UEG4: ZNF629; NbExp=3; IntAct=EBI-17181882, EBI-9977294;
CC O75564-2; Q8N720: ZNF655; NbExp=3; IntAct=EBI-17181882, EBI-625509;
CC O75564-2; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-17181882, EBI-527853;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00583}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O75564-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75564-2; Sequence=VSP_059375;
CC -!- TISSUE SPECIFICITY: Expressed ubiquitously.
CC {ECO:0000269|PubMed:9675132}.
CC -!- SIMILARITY: Belongs to the tigger transposable element derived protein
CC family. {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; AC108002; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KC877375; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471162; EAW82315.1; -; Genomic_DNA.
DR EMBL; CH471162; EAW82316.1; -; Genomic_DNA.
DR EMBL; CH471162; EAW82317.1; -; Genomic_DNA.
DR EMBL; BC043351; AAH43351.1; -; mRNA.
DR EMBL; AF072467; AAC32352.1; -; mRNA.
DR EMBL; AF072468; AAC32353.1; -; mRNA.
DR CCDS; CCDS75796.1; -. [O75564-2]
DR CCDS; CCDS75797.1; -. [O75564-1]
DR RefSeq; NP_001070995.2; NM_001077527.2. [O75564-1]
DR RefSeq; NP_001266281.1; NM_001279352.1. [O75564-1]
DR RefSeq; NP_003715.3; NM_003724.3. [O75564-2]
DR RefSeq; XP_006716740.1; XM_006716677.3. [O75564-2]
DR RefSeq; XP_006716741.1; XM_006716678.3. [O75564-2]
DR RefSeq; XP_011515656.1; XM_011517354.1. [O75564-1]
DR AlphaFoldDB; O75564; -.
DR SMR; O75564; -.
DR IntAct; O75564; 42.
DR MINT; O75564; -.
DR STRING; 9606.ENSP00000482410; -.
DR iPTMnet; O75564; -.
DR PhosphoSitePlus; O75564; -.
DR BioMuta; JRK; -.
DR EPD; O75564; -.
DR jPOST; O75564; -.
DR MassIVE; O75564; -.
DR PeptideAtlas; O75564; -.
DR PRIDE; O75564; -.
DR ProteomicsDB; 50087; -.
DR Antibodypedia; 27777; 24 antibodies from 11 providers.
DR DNASU; 8629; -.
DR Ensembl; ENST00000571961.7; ENSP00000461610.1; ENSG00000234616.9. [O75564-1]
DR Ensembl; ENST00000612905.2; ENSP00000482410.1; ENSG00000234616.9. [O75564-2]
DR Ensembl; ENST00000614134.1; ENSP00000485390.1; ENSG00000234616.9. [O75564-2]
DR Ensembl; ENST00000615982.4; ENSP00000483808.1; ENSG00000234616.9. [O75564-1]
DR GeneID; 8629; -.
DR KEGG; hsa:8629; -.
DR MANE-Select; ENST00000612905.2; ENSP00000482410.1; NM_003724.4; NP_003715.3. [O75564-2]
DR UCSC; uc033cbh.2; human.
DR UCSC; uc033cbj.1; human.
DR CTD; 8629; -.
DR DisGeNET; 8629; -.
DR GeneCards; JRK; -.
DR HGNC; HGNC:6199; JRK.
DR HPA; ENSG00000234616; Low tissue specificity.
DR MalaCards; JRK; -.
DR MIM; 603210; gene.
DR neXtProt; NX_O75564; -.
DR OpenTargets; ENSG00000234616; -.
DR Orphanet; 64280; Childhood absence epilepsy.
DR Orphanet; 307; Juvenile myoclonic epilepsy.
DR VEuPathDB; HostDB:ENSG00000234616; -.
DR eggNOG; KOG3105; Eukaryota.
DR GeneTree; ENSGT00940000162277; -.
DR InParanoid; O75564; -.
DR OMA; RDFMRHF; -.
DR OrthoDB; 1343623at2759; -.
DR PhylomeDB; O75564; -.
DR PathwayCommons; O75564; -.
DR SignaLink; O75564; -.
DR BioGRID-ORCS; 8629; 8 hits in 206 CRISPR screens.
DR ChiTaRS; JRK; human.
DR GenomeRNAi; 8629; -.
DR Pharos; O75564; Tdark.
DR PRO; PR:O75564; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; O75564; protein.
DR Bgee; ENSG00000234616; Expressed in paraflocculus and 214 other tissues.
DR ExpressionAtlas; O75564; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:1990904; C:ribonucleoprotein complex; IEA:Ensembl.
DR GO; GO:0003677; F:DNA binding; IBA:GO_Central.
DR GO; GO:0003729; F:mRNA binding; IEA:Ensembl.
DR GO; GO:0090263; P:positive regulation of canonical Wnt signaling pathway; IMP:FlyBase.
DR InterPro; IPR004875; DDE_SF_endonuclease_dom.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR006600; HTH_CenpB_DNA-bd_dom.
DR InterPro; IPR007889; HTH_Psq.
DR Pfam; PF04218; CENP-B_N; 1.
DR Pfam; PF03184; DDE_1; 1.
DR Pfam; PF03221; HTH_Tnp_Tc5; 1.
DR SMART; SM00674; CENPB; 1.
DR SUPFAM; SSF46689; SSF46689; 2.
DR PROSITE; PS51253; HTH_CENPB; 1.
DR PROSITE; PS50960; HTH_PSQ; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..556
FT /note="Jerky protein homolog"
FT /id="PRO_0000126128"
FT DOMAIN 11..62
FT /note="HTH psq-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00320"
FT DOMAIN 77..149
FT /note="HTH CENPB-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00583"
FT DOMAIN 213..382
FT /note="DDE-1"
FT /evidence="ECO:0000255"
FT DNA_BIND 38..58
FT /note="H-T-H motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00320"
FT DNA_BIND 110..142
FT /note="H-T-H motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00583"
FT REGION 439..482
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 467..482
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 414
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 528..556
FT /note="ETVGLEDVVVTSPEELAIPKCCLEASTET -> VRRRRGALGAVVKVEALQE
FT GPGGCGATAQSPLPCSSTAGDN (in isoform 2)"
FT /id="VSP_059375"
FT CONFLICT 476
FT /note="R -> G (in Ref. 4; AAC32353)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 556 AA; 61815 MW; B6D0E018C016335A CRC64;
MASKPAAGKS RGEKRKRVVL TLKEKIDICT RLEKGESRKA LMQEYNVGMS TLYDIRAHKA
QLLRFFASSD SNKALEQRRT LHTPKLEHLD RVLYEWFLGK RSEGVPVSGP MLIEKAKDFY
EQMQLTEPCV FSGGWLWRFK ARHGIKKLDA SSEKQSADHQ AAEQFCAFFR SLAAEHGLSA
EQVYNADETG LFWRCLPNPT PEGGAVPGPK QGKDRLTVLM CANATGSHRL KPLAIGKCSG
PRAFKGIQHL PVAYKAQGNA WVDKEIFSDW FHHIFVPSVR EHFRTIGLPE DSKAVLLLDS
SRAHPQEAEL VSSNVFTIFL PASVASLVQP MEQGIRRDFM RNFINPPVPL QGPHARYNMN
DAIFSVACAW NAVPSHVFRR AWRKLWPSVA FAEGSSSEEE LEAECFPVKP HNKSFAHILE
LVKEGSSCPG QLRQRQAASW GVAGREAEGG RPPAATSPAE VVWSSEKTPK ADQDGRGDPG
EGEEVAWEQA AVAFDAVLRF AERQPCFSAQ EVGQLRALRA VFRSQQQETV GLEDVVVTSP
EELAIPKCCL EASTET
