SP14L_HUMAN
ID SP14L_HUMAN Reviewed; 580 AA.
AC Q9H930; Q2M375; Q4ZG65; Q9BSP3;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 22-FEB-2012, sequence version 3.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Nuclear body protein SP140-like protein;
GN Name=SP140L;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 181-580 (ISOFORM 2), AND NUCLEOTIDE SEQUENCE [LARGE
RP SCALE MRNA] OF 430-580 (ISOFORM 4).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 172-580 (ISOFORM 1).
RC TISSUE=Teratocarcinoma;
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 [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-180, 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).
RN [5]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-169 AND LYS-292, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=4;
CC IsoId=Q9H930-4; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9H930-1; Sequence=VSP_040889;
CC Name=2;
CC IsoId=Q9H930-2; Sequence=VSP_031833;
CC Name=3;
CC IsoId=Q9H930-3; Sequence=VSP_031830, VSP_031831, VSP_031832;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAX88869.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAB14413.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC009949; AAX88869.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC004921; AAH04921.1; -; mRNA.
DR EMBL; BC105007; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BQ690359; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK023116; BAB14413.1; ALT_INIT; mRNA.
DR CCDS; CCDS46538.1; -. [Q9H930-4]
DR RefSeq; NP_612411.4; NM_138402.4. [Q9H930-4]
DR RefSeq; XP_006712918.1; XM_006712855.2.
DR AlphaFoldDB; Q9H930; -.
DR SMR; Q9H930; -.
DR BioGRID; 125019; 11.
DR IntAct; Q9H930; 6.
DR STRING; 9606.ENSP00000397911; -.
DR ChEMBL; CHEMBL4105997; -.
DR GlyGen; Q9H930; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9H930; -.
DR PhosphoSitePlus; Q9H930; -.
DR BioMuta; SP140L; -.
DR DMDM; 378405242; -.
DR EPD; Q9H930; -.
DR jPOST; Q9H930; -.
DR MassIVE; Q9H930; -.
DR MaxQB; Q9H930; -.
DR PaxDb; Q9H930; -.
DR PeptideAtlas; Q9H930; -.
DR PRIDE; Q9H930; -.
DR ProteomicsDB; 81273; -. [Q9H930-4]
DR ProteomicsDB; 81274; -. [Q9H930-1]
DR ProteomicsDB; 81275; -. [Q9H930-2]
DR ProteomicsDB; 81276; -. [Q9H930-3]
DR Antibodypedia; 34404; 82 antibodies from 17 providers.
DR DNASU; 93349; -.
DR Ensembl; ENST00000415673.7; ENSP00000397911.2; ENSG00000185404.17. [Q9H930-4]
DR Ensembl; ENST00000444636.5; ENSP00000395195.1; ENSG00000185404.17. [Q9H930-1]
DR Ensembl; ENST00000458341.1; ENSP00000395223.1; ENSG00000185404.17. [Q9H930-3]
DR GeneID; 93349; -.
DR KEGG; hsa:93349; -.
DR MANE-Select; ENST00000415673.7; ENSP00000397911.2; NM_138402.6; NP_612411.4.
DR UCSC; uc010fxm.2; human. [Q9H930-4]
DR CTD; 93349; -.
DR DisGeNET; 93349; -.
DR GeneCards; SP140L; -.
DR HGNC; HGNC:25105; SP140L.
DR HPA; ENSG00000185404; Low tissue specificity.
DR MIM; 617747; gene.
DR neXtProt; NX_Q9H930; -.
DR OpenTargets; ENSG00000185404; -.
DR PharmGKB; PA164726206; -.
DR VEuPathDB; HostDB:ENSG00000185404; -.
DR eggNOG; KOG2177; Eukaryota.
DR GeneTree; ENSGT00940000164523; -.
DR HOGENOM; CLU_015844_3_1_1; -.
DR InParanoid; Q9H930; -.
DR OMA; DICEMCR; -.
DR OrthoDB; 377499at2759; -.
DR PhylomeDB; Q9H930; -.
DR TreeFam; TF335091; -.
DR PathwayCommons; Q9H930; -.
DR SignaLink; Q9H930; -.
DR BioGRID-ORCS; 93349; 9 hits in 1092 CRISPR screens.
DR GenomeRNAi; 93349; -.
DR Pharos; Q9H930; Tdark.
DR PRO; PR:Q9H930; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9H930; protein.
DR Bgee; ENSG00000185404; Expressed in granulocyte and 160 other tissues.
DR ExpressionAtlas; Q9H930; baseline and differential.
DR Genevisible; Q9H930; HS.
DR GO; GO:0016604; C:nuclear body; IEA:InterPro.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 1.20.920.10; -; 1.
DR Gene3D; 3.10.390.10; -; 1.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR001487; Bromodomain.
DR InterPro; IPR036427; Bromodomain-like_sf.
DR InterPro; IPR004865; HSR_dom.
DR InterPro; IPR010919; SAND-like_dom_sf.
DR InterPro; IPR000770; SAND_dom.
DR InterPro; IPR043563; Sp110/Sp140/Sp140L.
DR InterPro; IPR030411; Sp140.
DR InterPro; IPR019786; Zinc_finger_PHD-type_CS.
DR InterPro; IPR011011; Znf_FYVE_PHD.
DR InterPro; IPR001965; Znf_PHD.
DR InterPro; IPR019787; Znf_PHD-finger.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR PANTHER; PTHR46386; PTHR46386; 1.
DR PANTHER; PTHR46386:SF6; PTHR46386:SF6; 1.
DR Pfam; PF00439; Bromodomain; 1.
DR Pfam; PF03172; HSR; 1.
DR Pfam; PF00628; PHD; 1.
DR Pfam; PF01342; SAND; 1.
DR SMART; SM00297; BROMO; 1.
DR SMART; SM00249; PHD; 1.
DR SMART; SM00258; SAND; 1.
DR SUPFAM; SSF47370; SSF47370; 1.
DR SUPFAM; SSF57903; SSF57903; 1.
DR SUPFAM; SSF63763; SSF63763; 1.
DR PROSITE; PS50014; BROMODOMAIN_2; 1.
DR PROSITE; PS51414; HSR; 1.
DR PROSITE; PS50864; SAND; 1.
DR PROSITE; PS01359; ZF_PHD_1; 1.
DR PROSITE; PS50016; ZF_PHD_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Isopeptide bond; Metal-binding;
KW Phosphoprotein; Reference proteome; Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..580
FT /note="Nuclear body protein SP140-like protein"
FT /id="PRO_0000321936"
FT DOMAIN 33..149
FT /note="HSR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00747"
FT DOMAIN 293..374
FT /note="SAND"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00185"
FT DOMAIN 484..554
FT /note="Bromo"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00035"
FT ZN_FING 403..449
FT /note="PHD-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00146"
FT REGION 155..293
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 155..192
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 206..222
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 223..251
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 180
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CROSSLNK 169
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 292
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 1..87
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031830"
FT VAR_SEQ 213..216
FT /note="RKKK -> SKNK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031831"
FT VAR_SEQ 217..580
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031832"
FT VAR_SEQ 287..321
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031833"
FT VAR_SEQ 430..580
FT /note="HIPPVESEKTPWNCIFCRMKESPGSQQCCQESEVLERQMCPEEQLKCEFLLL
FT KVYCCSESSFFAKIPYYYYIREACQGLKEPMWLDKIKKRLNEHGYPQVEGFVQDMRLIF
FT QNHRASYKYKDFGQMGLRLEAEFEKDFKEVFAIQETNGNS -> HIPPVESEK (in
FT isoform 1)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040889"
FT VARIANT 88
FT /note="M -> T (in dbSNP:rs4973318)"
FT /id="VAR_059144"
FT VARIANT 225
FT /note="T -> M (in dbSNP:rs28497362)"
FT /id="VAR_059145"
FT VARIANT 377
FT /note="P -> S (in dbSNP:rs7590429)"
FT /id="VAR_059146"
FT CONFLICT 223
FT /note="M -> T (in Ref. 3; BAB14413)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 580 AA; 67005 MW; C79CABFD2E1D6FB0 CRC64;
MAGGGSDLST RGLNGGVSQV ANEMNHLPAH SQSLQRLFTE DQDVDEGLVY DTVFKHFKRH
KLEISNAIKK TFPFLEGLRD RELITNKMFE DSEDSCRNLV PVQRVVYNVL SELEKTFNLS
VLEALFSEVN MQEYPDLIHI YKSFKNAIQD KLSFQESDRK EREERPDIKL SLKQGEVPES
PEARKESDQA CGKMDTVDIA NNSTLGKPKR KRRKKKGHGW SRMGTRTQKN NQQNDNSKAD
GQLVSSEKKA NMNLKDLSKI RGRKRGKPGT HFTQSDRAPQ KRVRSRASRK HKDETVDFQA
PLLPVTCGGV KGILHKEKLE QGTLAKCIQT EDGKWFTPME FEIKGGYARS KNWRLSVRCG
GWPLRRLMEE GSLPNPPRIY YRNKKRILKS QNNSSVDPCM RNLDECEVCR DGGELFCCDT
CSRVFHEDCH IPPVESEKTP WNCIFCRMKE SPGSQQCCQE SEVLERQMCP EEQLKCEFLL
LKVYCCSESS FFAKIPYYYY IREACQGLKE PMWLDKIKKR LNEHGYPQVE GFVQDMRLIF
QNHRASYKYK DFGQMGLRLE AEFEKDFKEV FAIQETNGNS