NBPF1_HUMAN
ID NBPF1_HUMAN Reviewed; 1214 AA.
AC Q3BBV0; Q8N4E8; Q9C0H0; S4R3K2;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 2.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Neuroblastoma breakpoint family member 1;
GN Name=NBPF1; Synonyms=KIAA1693;
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), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND VARIANTS VAL-612; ARG-663; HIS-712; GLN-734 AND GLN-850.
RC TISSUE=Mammary gland;
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 [2]
RP NUCLEOTIDE SEQUENCE [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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 314-1214 (ISOFORM 1), AND
RP VARIANTS THR-510 AND GLN-850.
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 612-1214 (ISOFORM 1).
RC TISSUE=Pancreas;
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 -!- INTERACTION:
CC Q3BBV0; O60341: KDM1A; NbExp=5; IntAct=EBI-2804530, EBI-710124;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16079250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3BBV0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3BBV0-2; Sequence=VSP_059360;
CC -!- TISSUE SPECIFICITY: Widely expressed. The only tissue which shows a
CC weak expression is kidney. {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}.
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DR EMBL; AY894575; AAX85114.1; -; mRNA.
DR EMBL; AL137798; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL355149; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB051480; BAB21784.1; -; mRNA.
DR EMBL; BC034418; AAH34418.1; -; mRNA.
DR RefSeq; NP_060410.2; NM_017940.4. [Q3BBV0-1]
DR AlphaFoldDB; Q3BBV0; -.
DR SMR; Q3BBV0; -.
DR BioGRID; 120804; 8.
DR IntAct; Q3BBV0; 5.
DR MINT; Q3BBV0; -.
DR STRING; 9606.ENSP00000474456; -.
DR iPTMnet; Q3BBV0; -.
DR PhosphoSitePlus; Q3BBV0; -.
DR BioMuta; NBPF1; -.
DR DMDM; 121942439; -.
DR EPD; Q3BBV0; -.
DR jPOST; Q3BBV0; -.
DR MassIVE; Q3BBV0; -.
DR PeptideAtlas; Q3BBV0; -.
DR PRIDE; Q3BBV0; -.
DR ProteomicsDB; 61674; -.
DR Antibodypedia; 68746; 6 antibodies from 4 providers.
DR DNASU; 55672; -.
DR Ensembl; ENST00000430580.6; ENSP00000474456.1; ENSG00000219481.11. [Q3BBV0-2]
DR GeneID; 55672; -.
DR KEGG; hsa:55672; -.
DR CTD; 55672; -.
DR DisGeNET; 55672; -.
DR GeneCards; NBPF1; -.
DR HGNC; HGNC:26088; NBPF1.
DR HPA; ENSG00000219481; Low tissue specificity.
DR MIM; 610501; gene.
DR neXtProt; NX_Q3BBV0; -.
DR OpenTargets; ENSG00000219481; -.
DR PharmGKB; PA128395786; -.
DR VEuPathDB; HostDB:ENSG00000219481; -.
DR eggNOG; ENOG502RU1I; Eukaryota.
DR GeneTree; ENSGT00420000029746; -.
DR InParanoid; Q3BBV0; -.
DR OMA; CPQRTEN; -.
DR OrthoDB; 372685at2759; -.
DR PhylomeDB; Q3BBV0; -.
DR PathwayCommons; Q3BBV0; -.
DR SignaLink; Q3BBV0; -.
DR BioGRID-ORCS; 55672; 36 hits in 178 CRISPR screens.
DR ChiTaRS; NBPF1; human.
DR GenomeRNAi; 55672; -.
DR Pharos; Q3BBV0; Tdark.
DR PRO; PR:Q3BBV0; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q3BBV0; protein.
DR Bgee; ENSG00000219481; Expressed in adrenal tissue and 141 other tissues.
DR ExpressionAtlas; Q3BBV0; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR InterPro; IPR010630; Olduvai_dom.
DR Pfam; PF06758; Olduvai; 8.
DR SMART; SM01148; DUF1220; 8.
DR PROSITE; PS51316; ODV; 8.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Reference proteome; Repeat.
FT CHAIN 1..1214
FT /note="Neuroblastoma breakpoint family member 1"
FT /id="PRO_0000288037"
FT DOMAIN 165..259
FT /note="Olduvai 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 436..530
FT /note="Olduvai 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 707..799
FT /note="Olduvai 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 800..888
FT /note="Olduvai 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 891..946
FT /note="Olduvai 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 947..1038
FT /note="Olduvai 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 1041..1114
FT /note="Olduvai 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 1116..1214
FT /note="Olduvai 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT REGION 162..200
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 433..471
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 722..746
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 791..837
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1102..1136
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 70..128
FT /evidence="ECO:0000255"
FT COILED 292..399
FT /evidence="ECO:0000255"
FT COILED 610..670
FT /evidence="ECO:0000255"
FT COMPBIAS 179..200
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 450..471
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 810..824
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1103..1118
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 962..1036
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_059360"
FT VARIANT 20
FT /note="I -> M (in dbSNP:rs9730080)"
FT /id="VAR_032364"
FT VARIANT 31
FT /note="N -> K (in dbSNP:rs9730077)"
FT /id="VAR_032365"
FT VARIANT 510
FT /note="A -> T (in dbSNP:rs681623)"
FT /evidence="ECO:0000269|PubMed:11214970"
FT /id="VAR_032366"
FT VARIANT 591
FT /note="C -> G (in dbSNP:rs3738661)"
FT /id="VAR_032367"
FT VARIANT 612
FT /note="M -> V (in dbSNP:rs672812)"
FT /evidence="ECO:0000269|PubMed:16079250"
FT /id="VAR_032368"
FT VARIANT 663
FT /note="C -> R (in dbSNP:rs28453011)"
FT /evidence="ECO:0000269|PubMed:16079250"
FT /id="VAR_032369"
FT VARIANT 712
FT /note="D -> H (in dbSNP:rs3901680)"
FT /evidence="ECO:0000269|PubMed:16079250"
FT /id="VAR_032370"
FT VARIANT 726
FT /note="K -> E (in dbSNP:rs3901679)"
FT /id="VAR_032371"
FT VARIANT 734
FT /note="P -> Q (in dbSNP:rs9727080)"
FT /evidence="ECO:0000269|PubMed:16079250"
FT /id="VAR_032372"
FT VARIANT 850
FT /note="K -> Q"
FT /evidence="ECO:0000269|PubMed:11214970,
FT ECO:0000269|PubMed:16079250"
FT /id="VAR_032373"
FT CONFLICT 135
FT /note="K -> E (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 157..159
FT /note="QLF -> HLV (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 216
FT /note="S -> G (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 291
FT /note="I -> M (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 296
FT /note="H -> R (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 320
FT /note="C -> G (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 335
FT /note="K -> E (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 406
FT /note="K -> E (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 428..430
FT /note="QLF -> HLV (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 487
FT /note="G -> S (in Ref. 3; BAB21784)"
FT /evidence="ECO:0000305"
FT CONFLICT 562
FT /note="I -> M (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 567
FT /note="H -> R (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 602
FT /note="N -> Y (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 699..701
FT /note="HLV -> QLF (in Ref. 1; AAX85114)"
FT /evidence="ECO:0000305"
FT CONFLICT 1138
FT /note="M -> V (in Ref. 3; BAB21784 and 4; AAH34418)"
FT /evidence="ECO:0000305"
FT CONFLICT 1162
FT /note="Y -> F (in Ref. 3; BAB21784 and 4; AAH34418)"
FT /evidence="ECO:0000305"
FT CONFLICT 1200
FT /note="T -> R (in Ref. 3; BAB21784 and 4; AAH34418)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1214 AA; 139258 MW; EEE78B814EEF5BDF CRC64;
MVVSAGPWSS EKAETNILEI NEKLRPQLAE NKQQFRNLKE KCFVTQLAGF LANRQKKYKY
EECKDLIKFM LRNERQFKEE KLAEQLKQAE ELRQYKVLVH SQERELTQLR EKLREGRDAS
RSLNQHLQAL LTPDKPDKSQ GQDLQEQLAE GCRLAQQLFQ KLSPENDEDE DEDVQVEEAE
KVLESSAPRE VQKAEESKVP EDSLEECAIT CSNSHSPCDS NQPHKNINIT FEEDKVNSTL
VVDRESSHDE CQDAVNILPV PGPTSSATNV SMVVSAGPLS SEKAEMNILE INEKLHPQLA
EKKQQFRNLK EKCFVTQLAC FLANQQNKYK YEECKDLIKS MLRNERQFKE EKLAEQLKQA
EELRQYKVLV HSQERELTQL REKLREGRDA SRSLNQHLQA LLTPDKPDKS QGQDLQEQLA
EGCRLAQQLF QKLSPENDED EDEDVQVEEA EKVLESSAPR EVQKAEESKV PEDSLEECAI
TCSNSHGPCD SNQPHKNINI TFEEDKVNSA LVVDRESSHD ECQDAVNILP VPGPTSSATN
VSMVVSAGPL SSEKAEMNIL EINEKLHPQL AEKKQQFRNL KEKCFVTQLA CFLANQQNKY
KNEECKDLIK SMLRNERQFK EEKLAEQLKQ AEELRQYKVL VHSQERELTQ LREKLREGRD
ASCSLNQHLQ ALLTPDEPDK SQGQDLQEQL AEGCRLAQHL VQKLSPENDN DDDEDVQVEV
AEKVQKSSAP REMPKAEEKE VPEDSLEECA ITCSNSHGPY DSNQPHRKTK ITFEEDKVDS
TLIGSSSHVE WEDAVHIIPE NESDDEEEEE KGPVSPRNLQ ESEEEEVPQE SWDEGYSTLS
IPPEMLASYK SYSGTFHSLE EQQVCMAVDI GGHRWDQVKK EDQEATGPRL SRELLDEKGP
EVLQDSLDRC YSTPSGYLEL TDSCQPYRSA FYILEQQRVG WALDMDEIEK YQEVEEDQDP
SCPRLSRELL DEKEPEVLQD SLDRCYSTPS GYLELPDLGQ PYRSAVYSLE EQYLGLALDV
DRIKKDQEEE EDQGPPCPRL SRELLEAVEP EVLQDSLDRC YSTPSSCLEQ PDSCLPYGSS
FYALEEKHVG FSLDVGEIEK KGKGKKRRGR RSTKKRRRRG RKEGEEDQNP PCPRLSGMLM
EVEEPEVLQD SLDRCYSTPS MYFELPDSFQ HYRSVFYSFE EQHISFALDV DNRFLTLMGT
SLHLVFQMGV IFPQ
