NBPF3_HUMAN
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 03-AUG-2022, entry version 137.
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. [Q9H094-2]
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. [Q9H094-2]
DR RefSeq; XP_016857988.1; XM_017002499.1. [Q9H094-2]
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; Q9H094; -.
DR PeptideAtlas; Q9H094; -.
DR PRIDE; Q9H094; -.
DR Antibodypedia; 53841; 59 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 CTD; 84224; -.
DR DisGeNET; 84224; -.
DR GeneCards; NBPF3; -.
DR HGNC; HGNC:25076; NBPF3.
DR HPA; ENSG00000142794; Tissue enriched (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; EECYLTP; -.
DR OrthoDB; 372685at2759; -.
DR PhylomeDB; Q9H094; -.
DR TreeFam; TF341151; -.
DR PathwayCommons; Q9H094; -.
DR SignaLink; Q9H094; -.
DR BioGRID-ORCS; 84224; 320 hits in 1071 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 93 other tissues.
DR ExpressionAtlas; Q9H094; baseline and differential.
DR Genevisible; Q9H094; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR InterPro; IPR010630; Olduvai_dom.
DR Pfam; PF06758; Olduvai; 5.
DR SMART; SM01148; DUF1220; 5.
DR PROSITE; PS51316; ODV; 5.
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
