N42L2_HUMAN
ID N42L2_HUMAN Reviewed; 583 AA.
AC Q92802; A3KME8;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1997, sequence version 1.
DT 03-AUG-2022, entry version 169.
DE RecName: Full=NEDD4-binding protein 2-like 2;
DE AltName: Full=Phosphonoformate immuno-associated protein 5;
GN Name=N4BP2L2; Synonyms=CG005, PFAAP5;
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] (ISOFORM 1).
RX PubMed=8812419; DOI=10.1006/geno.1996.0428;
RA Couch F.J., Rommens J.M., Neuhausen S.L., Belanger C., Dumont M.,
RA Kenneth A., Bell R., Berry S., Bogden R., Cannon-Albright L., Farid L.,
RA Frye C., Hattier T., Janecki T., Jiang P., Kehrer R., Leblanc J.F.,
RA McArthur-Morrison J., McSweeney D., Miki Y., Peng Y., Samson C.,
RA Schroeder M., Snyder S.C., Stringfellow M., Stroup C., Swedlund B.,
RA Swensen J., Teng D., Thakur S., Tran T., Tranchant M., Welver-Feldhaus J.,
RA Wong A.K.C., Shizuya H., Labrie F., Skolnick M.H., Goldgar D.E., Kamb A.,
RA Weber B.L., Tavtigian S.V., Simard J.;
RT "Generation of an integrated transcription map of the BRCA2 region on
RT chromosome 13q12-q13.";
RL Genomics 36:86-99(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Liu Y., Cheng J., Lu Y.;
RT "Screening and cloning of a new immuno-associated gene regulated by
RT phosphonoformate.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Rhodes S.;
RL Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [6]
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 (DEC-2006) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 434-583 (ISOFORM 2).
RC TISSUE=Colon;
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 [8]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=16344560; DOI=10.1101/gr.4039406;
RA Kimura K., Wakamatsu A., Suzuki Y., Ota T., Nishikawa T., Yamashita R.,
RA Yamamoto J., Sekine M., Tsuritani K., Wakaguri H., Ishii S., Sugiyama T.,
RA Saito K., Isono Y., Irie R., Kushida N., Yoneyama T., Otsuka R., Kanda K.,
RA Yokoi T., Kondo H., Wagatsuma M., Murakawa K., Ishida S., Ishibashi T.,
RA Takahashi-Fujii A., Tanase T., Nagai K., Kikuchi H., Nakai K., Isogai T.,
RA Sugano S.;
RT "Diversification of transcriptional modulation: large-scale identification
RT and characterization of putative alternative promoters of human genes.";
RL Genome Res. 16:55-65(2006).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- INTERACTION:
CC Q92802; P49639: HOXA1; NbExp=3; IntAct=EBI-2514973, EBI-740785;
CC Q92802; P25791: LMO2; NbExp=3; IntAct=EBI-2514973, EBI-739696;
CC Q92802; Q9BRA0: NAA38; NbExp=3; IntAct=EBI-2514973, EBI-9106509;
CC Q92802; O43447: PPIH; NbExp=10; IntAct=EBI-2514973, EBI-1055615;
CC Q92802; Q9Y3C6: PPIL1; NbExp=3; IntAct=EBI-2514973, EBI-2557649;
CC Q92802; P09022: Hoxa1; Xeno; NbExp=3; IntAct=EBI-2514973, EBI-3957603;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q92802-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q92802-2; Sequence=VSP_027518;
CC Name=3;
CC IsoId=Q92802-3; Sequence=VSP_041337, VSP_041338, VSP_041339;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI31632.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
CC Sequence=BP361938; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; U50532; AAC50875.1; -; mRNA.
DR EMBL; AF530063; AAQ09947.1; -; mRNA.
DR EMBL; AL049783; CAB42441.1; -; mRNA.
DR EMBL; BT007172; AAP35836.1; -; mRNA.
DR EMBL; AL353665; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471075; EAX08514.1; -; Genomic_DNA.
DR EMBL; BC010643; AAH10643.1; -; mRNA.
DR EMBL; BC131631; AAI31632.1; ALT_SEQ; mRNA.
DR EMBL; BP361938; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS45024.1; -. [Q92802-3]
DR CCDS; CCDS9346.1; -. [Q92802-1]
DR RefSeq; NP_055702.1; NM_014887.2. [Q92802-1]
DR RefSeq; XP_016875836.1; XM_017020347.1. [Q92802-1]
DR RefSeq; XP_016875837.1; XM_017020348.1. [Q92802-1]
DR RefSeq; XP_016875838.1; XM_017020349.1. [Q92802-1]
DR AlphaFoldDB; Q92802; -.
DR BioGRID; 115708; 78.
DR IntAct; Q92802; 50.
DR MINT; Q92802; -.
DR STRING; 9606.ENSP00000382328; -.
DR iPTMnet; Q92802; -.
DR PhosphoSitePlus; Q92802; -.
DR BioMuta; N4BP2L2; -.
DR DMDM; 74751659; -.
DR EPD; Q92802; -.
DR jPOST; Q92802; -.
DR MassIVE; Q92802; -.
DR MaxQB; Q92802; -.
DR PaxDb; Q92802; -.
DR PeptideAtlas; Q92802; -.
DR PRIDE; Q92802; -.
DR ProteomicsDB; 75485; -. [Q92802-1]
DR ProteomicsDB; 75486; -. [Q92802-2]
DR ProteomicsDB; 75487; -. [Q92802-3]
DR Antibodypedia; 42083; 236 antibodies from 22 providers.
DR DNASU; 10443; -.
DR Ensembl; ENST00000267068.5; ENSP00000267068.3; ENSG00000244754.9. [Q92802-1]
DR Ensembl; ENST00000399396.7; ENSP00000382328.3; ENSG00000244754.9. [Q92802-3]
DR Ensembl; ENST00000446957.6; ENSP00000394239.2; ENSG00000244754.9. [Q92802-2]
DR Ensembl; ENST00000674349.1; ENSP00000501516.1; ENSG00000244754.9. [Q92802-1]
DR Ensembl; ENST00000674421.1; ENSP00000501518.1; ENSG00000244754.9. [Q92802-1]
DR Ensembl; ENST00000674465.1; ENSP00000501416.1; ENSG00000244754.9. [Q92802-1]
DR Ensembl; ENST00000674484.1; ENSP00000501537.1; ENSG00000244754.9. [Q92802-1]
DR GeneID; 10443; -.
DR KEGG; hsa:10443; -.
DR MANE-Select; ENST00000267068.6; ENSP00000267068.3; NM_014887.3; NP_055702.1.
DR UCSC; uc001uuk.5; human. [Q92802-1]
DR CTD; 10443; -.
DR DisGeNET; 10443; -.
DR GeneCards; N4BP2L2; -.
DR HGNC; HGNC:26916; N4BP2L2.
DR HPA; ENSG00000244754; Low tissue specificity.
DR MIM; 615788; gene.
DR neXtProt; NX_Q92802; -.
DR OpenTargets; ENSG00000244754; -.
DR PharmGKB; PA162396632; -.
DR VEuPathDB; HostDB:ENSG00000244754; -.
DR eggNOG; KOG2401; Eukaryota.
DR GeneTree; ENSGT00940000161440; -.
DR HOGENOM; CLU_006655_0_0_1; -.
DR InParanoid; Q92802; -.
DR OMA; LNIGGQC; -.
DR OrthoDB; 76267at2759; -.
DR PhylomeDB; Q92802; -.
DR TreeFam; TF336975; -.
DR PathwayCommons; Q92802; -.
DR SignaLink; Q92802; -.
DR BioGRID-ORCS; 10443; 11 hits in 1075 CRISPR screens.
DR ChiTaRS; N4BP2L2; human.
DR GenomeRNAi; 10443; -.
DR Pharos; Q92802; Tbio.
DR PRO; PR:Q92802; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q92802; protein.
DR Bgee; ENSG00000244754; Expressed in calcaneal tendon and 199 other tissues.
DR ExpressionAtlas; Q92802; baseline and differential.
DR Genevisible; Q92802; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0017053; C:transcription repressor complex; IDA:UniProtKB.
DR GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
DR GO; GO:0003714; F:transcription corepressor activity; ISS:UniProtKB.
DR GO; GO:0001824; P:blastocyst development; IEA:Ensembl.
DR GO; GO:1902037; P:negative regulation of hematopoietic stem cell differentiation; IMP:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:CAFA.
DR GO; GO:1902035; P:positive regulation of hematopoietic stem cell proliferation; IMP:UniProtKB.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR026568; NEDD4-bind_pro_2-like_2.
DR InterPro; IPR026302; NEDD4_b_p2.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR13308; PTHR13308; 1.
DR PANTHER; PTHR13308:SF23; PTHR13308:SF23; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..583
FT /note="NEDD4-binding protein 2-like 2"
FT /id="PRO_0000299026"
FT REGION 549..575
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 162..197
FT /evidence="ECO:0000255"
FT VAR_SEQ 8..32
FT /note="GKFLGPREEVTSEPRCKKLKSTTES -> EFCLVRIVMALCSALMTIFTIKM
FT GT (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_041337"
FT VAR_SEQ 33..461
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_041338"
FT VAR_SEQ 566..583
FT /note="RWGGSLGSHNRVCVTNNH -> RERVLKKTGHRLSKTKQKRNRKRNKKQNSQ
FT NRIMEENSLEFLSDLTPGDQDPSQSEEEDIEKTRRESEYPFIDGLQNEVGDFVTGYKEK
FT RWKNKDPKDSFQNVMSIVELDNTPKNYLSKEGDNLFVSLLLRPNEISVTCPILTQNLSC
FT VTTDDCSGMKVEKHIRNRHTIALDTQDLSAETSCLFMKKREIVDKNLSHEPILCHQHGI
FT RMSDKVLREEQVYTTKINHWAFFTTNLSDEDLQLGSDRQPYFGSWPAGPHKFICEQRPK
FT KDRACKLAGPDSRGQWIQMIFTSVAASEPGNNPEILTDKLLIGNEDFSPPPETMDSFIE
FT TNLFRSCLPQPDIPKNALESTKNKKRRKKRIFNLVPNFDLLGQSRIGVKEREKCDLLTK
FT NHGLKITLGEEKDRISERNSEEENKQKLMTFDHHPLWFYLDIIKATPLNIDGQRYSHCL
FT SFNRLRCSASLYKNYIPSFVLHNLSSIWKPSFTNKKLFLTFESQTRVGNKLNDAGFISP
FT EILHSHPDTSCSLGVTSDFHFLNERFDRKLKRWEEPKELPAEDSQDLTSTDYRSLELPL
FT SQGFAFQLVKLFGSPGVPMESLLPDDYVVPLDWKTLKMIYLQWKMSVEKRQKKIG (in
FT isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_041339"
FT VAR_SEQ 567..583
FT /note="WGGSLGSHNRVCVTNNH -> FDRKLKRWEEPKELPAEDSQDLTSTDYRSLE
FT LPLSQGFAFQLVKLFGSPGVPMESLLPDDYVVPLDWKTLKMIYLQWKMSVEKRQKKIG
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027518"
FT VARIANT 272
FT /note="Y -> H (in dbSNP:rs34062461)"
FT /id="VAR_034765"
SQ SEQUENCE 583 AA; 67459 MW; 318DC4D81CD0FF2A CRC64;
MSYGEIEGKF LGPREEVTSE PRCKKLKSTT ESYVFHNHSN ADFHRIQEKT GNDWVPVTII
DVRGHSYLQE NKIKTTDLHR PLHDEMPGNR PDVIESIDSQ VLQEARPPLV SADDEIYSTS
KAFIGPIYKP PEKKKRNEGR NEAHVLNGIN DRGGQKEKQK FNSEKSEIDN ELFQFYKEIE
ELEKEKDGFE NSCKESEPSQ EQFVPFYEGH NNGLLKPDEE KKDLSNKAMP SHCDYQQNLG
NEPDKYPCNG QVIPTFCDTS FTSFRPEWQS VYPFIVPYGP PLPSLNYHLN IQRFSGPPNP
PSNIFQAQDD SQIQNGYYVN NCHVNWNCMT FDQNNEYTDC SENRSSVHPS GNGCSMQDRY
VSNGFCEVRE RCWKDHCMDK HNGTDRFVNQ QFQEEKLNKL QKLLILLRGL PGSGKTTLSR
ILLGQNRDGI VFSTDDYFHH QDGYRYNVNQ LGDAHDWNQN RAKQAIDQGR SPVIIDNTNI
QAWEMKPYVE VAIGKGYRVE FHEPETWWKF DPEELEKRNK HGVSRKKIAQ MLDRYEYQMS
ISIVMNSVEP SHKSTQRPPP PQGRQRWGGS LGSHNRVCVT NNH
