NFXL1_HUMAN
ID NFXL1_HUMAN Reviewed; 911 AA.
AC Q6ZNB6; B1Q2K1; Q86VG1; Q8WVH1;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 06-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=NF-X1-type zinc finger protein NFXL1;
DE AltName: Full=Ovarian zinc finger protein;
DE Short=hOZFP;
GN Name=NFXL1; Synonyms=OZFP;
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 [MRNA].
RA Shimokawa T., Furukawa Y., Li M., Sakai M., Nakamura Y.;
RT "Isolation of NFXL1, with elevated expression in human colon cancers, as
RT novel drug targets for treatment of cancer.";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Coronary artery, and 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 [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 737-911 (ISOFORM 1).
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 [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-106; SER-107; SER-108 AND
RP SER-109, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50 AND SER-65, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
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).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-106; SER-107; SER-108 AND
RP SER-109, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50 AND SER-65, AND
RP IDENTIFICATION BY 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 -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZNB6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZNB6-2; Sequence=VSP_023410, VSP_023411;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the NFX1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAD18459.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB181916; BAG16261.1; -; mRNA.
DR EMBL; AK131285; BAD18459.1; ALT_INIT; mRNA.
DR EMBL; AK302440; BAH13710.1; -; mRNA.
DR EMBL; AC107068; AAY40918.1; -; Genomic_DNA.
DR EMBL; BC018019; AAH18019.1; -; mRNA.
DR EMBL; BC051193; AAH51193.1; -; mRNA.
DR CCDS; CCDS3478.2; -. [Q6ZNB6-1]
DR RefSeq; NP_001265552.1; NM_001278623.1. [Q6ZNB6-1]
DR RefSeq; NP_001265553.1; NM_001278624.1. [Q6ZNB6-1]
DR RefSeq; NP_694540.3; NM_152995.5. [Q6ZNB6-1]
DR AlphaFoldDB; Q6ZNB6; -.
DR BioGRID; 127449; 109.
DR IntAct; Q6ZNB6; 9.
DR MINT; Q6ZNB6; -.
DR STRING; 9606.ENSP00000422037; -.
DR GlyGen; Q6ZNB6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6ZNB6; -.
DR PhosphoSitePlus; Q6ZNB6; -.
DR SwissPalm; Q6ZNB6; -.
DR BioMuta; NFXL1; -.
DR DMDM; 134048494; -.
DR EPD; Q6ZNB6; -.
DR jPOST; Q6ZNB6; -.
DR MassIVE; Q6ZNB6; -.
DR MaxQB; Q6ZNB6; -.
DR PaxDb; Q6ZNB6; -.
DR PeptideAtlas; Q6ZNB6; -.
DR PRIDE; Q6ZNB6; -.
DR ProteomicsDB; 68008; -. [Q6ZNB6-1]
DR ProteomicsDB; 68009; -. [Q6ZNB6-2]
DR Antibodypedia; 56341; 21 antibodies from 8 providers.
DR DNASU; 152518; -.
DR Ensembl; ENST00000329043.7; ENSP00000333113.4; ENSG00000170448.12. [Q6ZNB6-1]
DR Ensembl; ENST00000381538.7; ENSP00000370949.3; ENSG00000170448.12. [Q6ZNB6-1]
DR Ensembl; ENST00000464756.6; ENSP00000425812.1; ENSG00000170448.12. [Q6ZNB6-2]
DR Ensembl; ENST00000507489.2; ENSP00000422037.1; ENSG00000170448.12. [Q6ZNB6-1]
DR GeneID; 152518; -.
DR KEGG; hsa:152518; -.
DR MANE-Select; ENST00000507489.2; ENSP00000422037.1; NM_001278624.2; NP_001265553.1.
DR UCSC; uc003gxp.5; human. [Q6ZNB6-1]
DR CTD; 152518; -.
DR DisGeNET; 152518; -.
DR GeneCards; NFXL1; -.
DR HGNC; HGNC:18726; NFXL1.
DR HPA; ENSG00000170448; Low tissue specificity.
DR neXtProt; NX_Q6ZNB6; -.
DR OpenTargets; ENSG00000170448; -.
DR Orphanet; 458713; NON RARE IN EUROPE: Specific language impairment.
DR PharmGKB; PA38661; -.
DR VEuPathDB; HostDB:ENSG00000170448; -.
DR eggNOG; KOG1952; Eukaryota.
DR GeneTree; ENSGT00940000157059; -.
DR HOGENOM; CLU_014224_0_0_1; -.
DR InParanoid; Q6ZNB6; -.
DR OMA; PCPPCAQ; -.
DR PhylomeDB; Q6ZNB6; -.
DR TreeFam; TF323611; -.
DR PathwayCommons; Q6ZNB6; -.
DR SignaLink; Q6ZNB6; -.
DR BioGRID-ORCS; 152518; 12 hits in 1099 CRISPR screens.
DR ChiTaRS; NFXL1; human.
DR GenomeRNAi; 152518; -.
DR Pharos; Q6ZNB6; Tdark.
DR PRO; PR:Q6ZNB6; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6ZNB6; protein.
DR Bgee; ENSG00000170448; Expressed in secondary oocyte and 171 other tissues.
DR Genevisible; Q6ZNB6; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR InterPro; IPR034078; NFX1_fam.
DR InterPro; IPR000967; Znf_NFX1.
DR InterPro; IPR001841; Znf_RING.
DR PANTHER; PTHR12360; PTHR12360; 1.
DR Pfam; PF01422; zf-NF-X1; 11.
DR SMART; SM00438; ZnF_NFX; 11.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Membrane; Metal-binding; Phosphoprotein;
KW Reference proteome; Repeat; Transmembrane; Transmembrane helix; Zinc;
KW Zinc-finger.
FT CHAIN 1..911
FT /note="NF-X1-type zinc finger protein NFXL1"
FT /id="PRO_0000278827"
FT TRANSMEM 889..906
FT /note="Helical"
FT /evidence="ECO:0000255"
FT ZN_FING 160..220
FT /note="RING-type; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00175"
FT ZN_FING 269..287
FT /note="NF-X1-type 1"
FT ZN_FING 322..341
FT /note="NF-X1-type 2"
FT ZN_FING 375..394
FT /note="NF-X1-type 3"
FT ZN_FING 428..447
FT /note="NF-X1-type 4"
FT ZN_FING 455..476
FT /note="NF-X1-type 5"
FT ZN_FING 480..499
FT /note="NF-X1-type 6"
FT ZN_FING 507..526
FT /note="NF-X1-type 7"
FT ZN_FING 674..702
FT /note="NF-X1-type 8"
FT ZN_FING 715..733
FT /note="NF-X1-type 9"
FT ZN_FING 777..796
FT /note="NF-X1-type 10"
FT REGION 1..76
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 822..873
FT /evidence="ECO:0000255"
FT COMPBIAS 50..76
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 50
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 65
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 106
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:21406692"
FT MOD_RES 107
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:21406692"
FT MOD_RES 108
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:21406692"
FT MOD_RES 109
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:21406692"
FT VAR_SEQ 694..733
FT /note="AGPECLHCEEGCSKSRPLGCLHPCILRCHPGECPPCVQML -> IGKLKLCD
FT LSMILQQESSKSESTVPDLLTPSPMCSSTHVI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023410"
FT VAR_SEQ 734..911
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023411"
FT VARIANT 246
FT /note="P -> L (in dbSNP:rs12651301)"
FT /id="VAR_030869"
FT CONFLICT 889
FT /note="Y -> H (in Ref. 4; AAH18019)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 911 AA; 101339 MW; F65824C4734E6841 CRC64;
MEASWRQVAG GRGRSRGRAT AAPSGNGVHL RGAGGGREKG SVGAVPSGTS PGGVATTAAA
GSRHSPAGSQ ALQTTAASEL MSQKKFEEIK KANQAAARKL VEEQFSSSSE EGDEDFEGKQ
GKILANTFIT YTTQTDGDTR ELERTKQYVN EAFQAGAMTC LICIASVKRN QAVWSCSGCF
CIFHMPCIQK WAKDSQFLVS SVTDDDFGKK DCPWPCPKCR FEYKRSETPS RYYCYCGKVE
DPPLDPWLVP HSCGQVCERE FKPPCGHKCL LLCHPGPCPP CPKMVTTTCY CKKAKPIPRR
CSAKEWSCQL PCGQKLLCGQ HKCENPCHAG SCQPCPRVSR QKCVCGKKVA ERSCASPLWH
CDQVCGKTLP CGNHTCEQVC HVGACGECPR SGKRFCPCQK SKFSLPCTED VPTCGDSCDK
VLECGIHRCS QRCHRGPCET CRQEVEKHCR CGKHTKRMPC HKPYLCETKC VKMRDCQKHQ
CRRKCCPGNC PPCDQNCGRT LGCRNHKCPS VCHRGSCYPC PETVDVKCNC GNTKVTVPCG
RERTTRPPKC KEQCSRPPTC HHTSQEKHRC HFGSCPPCHQ PCQKVLEKCG HLCPAPCHDQ
ALIKQTGRHQ PTGPWEQPSE PAFIQTALPC PPCQVPIPME CLGKHEVSPL PCHAVGPYSC
KRVCGRILDC QNHTCMKECH KVTKTDGCTG KNKAGPECLH CEEGCSKSRP LGCLHPCILR
CHPGECPPCV QMLRIKCHCK ITSLYVECRK ITTADVNEKN LLSCCKNQCP KELPCGHRCK
EMCHPGECPF NCNQKVKLRC PCKRIKKELQ CNKVRENQVS IECDTTCKEM KRKASEIKEA
EAKAALEEEK RRQQAELEAF ENRLKGRRKK NRKRDEVAVE LSLWQKHKYY LISVCGVVVV
VFAWYITHDV N
