ID   NBPF3_HUMAN             Reviewed;         633 AA.
AC   Q9H094; A8K965; B4DSP2; I3L0I8; Q3BBW1; Q5VTG2; Q5VTG3; Q5VTG4; Q8IX78;
AC   Q8ND86; Q8TC96;
DT   29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   27-MAR-2024, entry version 145.
DE   RecName: Full=Neuroblastoma breakpoint family member 3;
DE   AltName: Full=Protein AE2;
DE   AltName: Full=Protein SHIIIa4;
GN   Name=NBPF3; ORFNames=L7;
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=15334068; DOI=10.1038/sj.onc.1207921;
RA   Petroziello J., Yamane A., Westendorf L., Thompson M., McDonagh C.,
RA   Cerveny C., Law C.-L., Wahl A., Carter P.;
RT   "Suppression subtractive hybridization and expression profiling identifies
RT   a unique set of genes overexpressed in non-small-cell lung cancer.";
RL   Oncogene 23:7734-7745(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND TISSUE SPECIFICITY.
RX   PubMed=16079250; DOI=10.1093/molbev/msi222;
RA   Vandepoele K., Van Roy N., Staes K., Speleman F., van Roy F.;
RT   "A novel gene family NBPF: intricate structure generated by gene
RT   duplications during primate evolution.";
RL   Mol. Biol. Evol. 22:2265-2274(2005).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Testis;
RX   PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA   Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA   Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA   Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA   Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA   Klein M., Poustka A.;
RT   "Towards a catalog of human genes and proteins: sequencing and analysis of
RT   500 novel complete protein coding human cDNAs.";
RL   Genome Res. 11:422-435(2001).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), AND VARIANTS
RP   GLU-444 AND VAL-459.
RC   TISSUE=Brain, 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   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC   TISSUE=Testis;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANTS CYS-114;
RP   GLU-444 AND VAL-459.
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).
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=5;
CC       Name=1;
CC         IsoId=Q9H094-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9H094-2; Sequence=VSP_025626;
CC       Name=3;
CC         IsoId=Q9H094-3; Sequence=VSP_025627, VSP_025628;
CC       Name=4;
CC         IsoId=Q9H094-4; Sequence=VSP_025625;
CC       Name=5;
CC         IsoId=Q9H094-5; Sequence=VSP_044705;
CC   -!- TISSUE SPECIFICITY: Expressed in testis and fetal heart, as well as in
CC       non small cell lung carcinoma and neuroblastoma cell line.
CC       {ECO:0000269|PubMed:16079250}.
CC   -!- MISCELLANEOUS: Encoded by one of the numerous copies of NBPF genes
CC       clustered in the p36, p12 and q21 region of the chromosome 1.
CC   -!- SIMILARITY: Belongs to the NBPF family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH24011.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AY598326; AAT06737.1; -; mRNA.
DR   EMBL; AF379629; AAO15397.1; -; mRNA.
DR   EMBL; AY894564; AAX85103.1; -; mRNA.
DR   EMBL; AK292580; BAF85269.1; -; mRNA.
DR   EMBL; AK299840; BAG61704.1; -; mRNA.
DR   EMBL; AL136890; CAB66824.1; -; mRNA.
DR   EMBL; AL834330; CAD38998.2; -; mRNA.
DR   EMBL; AL592309; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC024011; AAH24011.1; ALT_FRAME; mRNA.
DR   CCDS; CCDS216.1; -. [Q9H094-1]
DR   CCDS; CCDS57976.1; -. [Q9H094-3]
DR   CCDS; CCDS57977.1; -. [Q9H094-5]
DR   CCDS; CCDS81275.1; -. [Q9H094-2]
DR   RefSeq; NP_001243345.1; NM_001256416.2. [Q9H094-3]
DR   RefSeq; NP_001243346.1; NM_001256417.2. [Q9H094-5]
DR   RefSeq; NP_001317310.1; NM_001330381.1. [Q9H094-2]
DR   RefSeq; NP_115640.1; NM_032264.4. [Q9H094-1]
DR   RefSeq; XP_006711021.1; XM_006710958.1.
DR   RefSeq; XP_006711022.1; XM_006710959.2.
DR   RefSeq; XP_011540578.1; XM_011542276.1.
DR   RefSeq; XP_011540579.1; XM_011542277.1.
DR   RefSeq; XP_011540580.1; XM_011542278.1.
DR   RefSeq; XP_011540583.1; XM_011542281.1.
DR   RefSeq; XP_016857988.1; XM_017002499.1.
DR   AlphaFoldDB; Q9H094; -.
DR   SMR; Q9H094; -.
DR   BioGRID; 123958; 11.
DR   IntAct; Q9H094; 3.
DR   STRING; 9606.ENSP00000316782; -.
DR   iPTMnet; Q9H094; -.
DR   PhosphoSitePlus; Q9H094; -.
DR   BioMuta; NBPF3; -.
DR   DMDM; 74733518; -.
DR   EPD; Q9H094; -.
DR   jPOST; Q9H094; -.
DR   MassIVE; Q9H094; -.
DR   MaxQB; Q9H094; -.
DR   PaxDb; 9606-ENSP00000316782; -.
DR   PeptideAtlas; Q9H094; -.
DR   Antibodypedia; 53841; 72 antibodies from 15 providers.
DR   DNASU; 84224; -.
DR   Ensembl; ENST00000318249.10; ENSP00000316782.5; ENSG00000142794.19. [Q9H094-1]
DR   Ensembl; ENST00000342104.9; ENSP00000340336.5; ENSG00000142794.19. [Q9H094-3]
DR   Ensembl; ENST00000454000.6; ENSP00000415711.2; ENSG00000142794.19. [Q9H094-5]
DR   Ensembl; ENST00000619554.1; ENSP00000484028.1; ENSG00000142794.19. [Q9H094-2]
DR   GeneID; 84224; -.
DR   KEGG; hsa:84224; -.
DR   MANE-Select; ENST00000318249.10; ENSP00000316782.5; NM_032264.6; NP_115640.1.
DR   UCSC; uc001ber.5; human. [Q9H094-1]
DR   AGR; HGNC:25076; -.
DR   CTD; 84224; -.
DR   DisGeNET; 84224; -.
DR   GeneCards; NBPF3; -.
DR   HGNC; HGNC:25076; NBPF3.
DR   HPA; ENSG00000142794; Tissue enhanced (testis).
DR   MIM; 612992; gene.
DR   neXtProt; NX_Q9H094; -.
DR   OpenTargets; ENSG00000142794; -.
DR   PharmGKB; PA142671283; -.
DR   VEuPathDB; HostDB:ENSG00000142794; -.
DR   eggNOG; ENOG502RU1I; Eukaryota.
DR   GeneTree; ENSGT00420000029746; -.
DR   HOGENOM; CLU_030855_0_0_1; -.
DR   InParanoid; Q9H094; -.
DR   OMA; CSENHED; -.
DR   OrthoDB; 5219905at2759; -.
DR   PhylomeDB; Q9H094; -.
DR   TreeFam; TF341151; -.
DR   PathwayCommons; Q9H094; -.
DR   SignaLink; Q9H094; -.
DR   BioGRID-ORCS; 84224; 324 hits in 1146 CRISPR screens.
DR   ChiTaRS; NBPF3; human.
DR   GeneWiki; NBPF3; -.
DR   GenomeRNAi; 84224; -.
DR   Pharos; Q9H094; Tdark.
DR   PRO; PR:Q9H094; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q9H094; Protein.
DR   Bgee; ENSG00000142794; Expressed in stromal cell of endometrium and 95 other cell types or tissues.
DR   ExpressionAtlas; Q9H094; baseline and differential.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   InterPro; IPR010630; Olduvai_dom.
DR   PANTHER; PTHR14199:SF45; NEUROBLASTOMA BREAKPOINT FAMILY MEMBER 3; 1.
DR   PANTHER; PTHR14199; UNCHARACTERIZED; 1.
DR   Pfam; PF06758; Olduvai; 5.
DR   SMART; SM01148; DUF1220; 5.
DR   PROSITE; PS51316; ODV; 5.
DR   Genevisible; Q9H094; HS.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Coiled coil; Cytoplasm; Reference proteome; Repeat.
FT   CHAIN           1..633
FT                   /note="Neuroblastoma breakpoint family member 3"
FT                   /id="PRO_0000288038"
FT   DOMAIN          221..313
FT                   /note="Olduvai 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT   DOMAIN          314..402
FT                   /note="Olduvai 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT   DOMAIN          405..460
FT                   /note="Olduvai 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT   DOMAIN          461..552
FT                   /note="Olduvai 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT   DOMAIN          555..633
FT                   /note="Olduvai 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT   REGION          15..52
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          316..370
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          463..484
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          127..186
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        316..338
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1..358
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:17974005"
FT                   /id="VSP_025625"
FT   VAR_SEQ         1..56
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16079250"
FT                   /id="VSP_025626"
FT   VAR_SEQ         45..114
FT                   /note="Missing (in isoform 5)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_044705"
FT   VAR_SEQ         331
FT                   /note="R -> RSSGRFCCLISVGYIFCHPCPAWLIR (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_025627"
FT   VAR_SEQ         350..386
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_025628"
FT   VARIANT         114
FT                   /note="Y -> C (in dbSNP:rs1827293)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_032374"
FT   VARIANT         198
FT                   /note="R -> Q (in dbSNP:rs16825377)"
FT                   /id="VAR_053909"
FT   VARIANT         444
FT                   /note="D -> E (in dbSNP:rs12043777)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15489334"
FT                   /id="VAR_047965"
FT   VARIANT         459
FT                   /note="L -> V (in dbSNP:rs12034222)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15489334"
FT                   /id="VAR_032375"
FT   CONFLICT        70
FT                   /note="E -> Q (in Ref. 2; AAX85103)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        78
FT                   /note="K -> T (in Ref. 2; AAX85103)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        263
FT                   /note="C -> Y (in Ref. 7; AAH24011)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        429..430
FT                   /note="FE -> CG (in Ref. 4; BAG61704 and 7; AAH24011)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        548
FT                   /note="K -> N (in Ref. 4; BAG61704, 5; CAD38998 and 7;
FT                   AAH24011)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        564
FT                   /note="P -> A (in Ref. 5; CAD38998)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   633 AA;  72951 MW;  54B627C8AACB0187 CRC64;
     MPLTPTVQGF QWTLRGPDVE TSPFGAPRAA SHGVGRHQEL RDPTVPGPTS SATNVSMVVS
     AGPWSGEKAE MNILEINKKS RPQLAENKQQ FRNLKQKCLV TQVAYFLANR QNNYDYEDCK
     DLIKSMLRDE RLLTEEKLAE ELGQAEELRQ YKVLVHSQER ELTQLREKLQ EGRDASRSLN
     QHLQALLTPD EPDNSQGRDL REQLAEGCRL AQHLVQKLSP ENDDDEDEDV KVEEAEKVQE
     LYAPREVQKA EEKEVPEDSL EECAITCSNS HHPCESNQPY GNTRITFEED QVDSTLIDSS
     SHDEWLDAVC IIPENESDHE QEEEKGPVSP RNLQESEEEE APQESWDEGD WTLSIPPDMS
     ASYQSDRSTF HSVEEQQVGL ALDIGRHWCD QVKKEDQEAT SPRLSRELLD EKEPEVLQDS
     LDRFYSTPFE YLELPDLCQP YRSDFYSLQE QHLGLALDLD RMKKDQEEEE DQGPPCPRLS
     RELPEVVEPE DLQDSLDRWY STPFSYPELP DSCQPYGSCF YSLEEEHVGF SLDVDEIEKY
     QEGEEDQKPP CPRLNEVLME AEEPEVLQDS LDRCYSTTST YFQLHASFQQ YRSAFYSFEE
     QDVSLALDVD NRFFTLTVIR HHLAFQMGVI FPH
//