NBPF9_HUMAN
ID NBPF9_HUMAN Reviewed; 1111 AA.
AC P0DPF3; A0A075B761; A0A087WVA0; A0A087WY26; Q3BBV1; Q3BBW0;
DT 28-MAR-2018, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 1.
DT 03-AUG-2022, entry version 23.
DE RecName: Full=Neuroblastoma breakpoint family member 9;
GN Name=NBPF9;
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 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 [2]
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).
CC -!- INTERACTION:
CC P0DPF3; Q15326: ZMYND11; NbExp=2; IntAct=EBI-30824775, EBI-2623509;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P0DPF3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P0DPF3-2; Sequence=VSP_059364;
CC -!- TISSUE SPECIFICITY: Expressed in a 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}.
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DR EMBL; AY894574; AAX85113.1; -; mRNA.
DR EMBL; AC239804; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS72895.1; -. [P0DPF3-2]
DR CCDS; CCDS72896.1; -. [P0DPF3-1]
DR RefSeq; NP_001032764.2; NM_001037675.3. [P0DPF3-2]
DR RefSeq; NP_001264373.1; NM_001277444.1. [P0DPF3-1]
DR RefSeq; XP_006711380.1; XM_006711317.2.
DR AlphaFoldDB; P0DPF3; -.
DR SMR; P0DPF3; -.
DR IntAct; P0DPF3; 1.
DR STRING; 9606.ENSP00000477979; -.
DR iPTMnet; P0DPF3; -.
DR PhosphoSitePlus; P0DPF3; -.
DR jPOST; P0DPF3; -.
DR MassIVE; P0DPF3; -.
DR PeptideAtlas; P0DPF3; -.
DR PRIDE; P0DPF3; -.
DR Antibodypedia; 73769; 33 antibodies from 6 providers.
DR DNASU; 400818; -.
DR Ensembl; ENST00000584027.9; ENSP00000463665.4; ENSG00000269713.8. [P0DPF3-1]
DR Ensembl; ENST00000610300.4; ENSP00000481471.1; ENSG00000269713.8. [P0DPF3-2]
DR Ensembl; ENST00000613595.4; ENSP00000483900.1; ENSG00000269713.8. [P0DPF3-2]
DR Ensembl; ENST00000615421.4; ENSP00000477979.1; ENSG00000269713.8. [P0DPF3-1]
DR GeneID; 400818; -.
DR KEGG; hsa:400818; -.
DR CTD; 400818; -.
DR DisGeNET; 400818; -.
DR GeneCards; NBPF9; -.
DR HGNC; HGNC:31991; NBPF9.
DR HPA; ENSG00000269713; Low tissue specificity.
DR MIM; 613999; gene.
DR neXtProt; NX_P0DPF3; -.
DR OpenTargets; ENSG00000269713; -.
DR VEuPathDB; HostDB:ENSG00000269713; -.
DR GeneTree; ENSGT00420000029746; -.
DR PathwayCommons; P0DPF3; -.
DR ChiTaRS; NBPF9; human.
DR Pharos; P0DPF3; Tdark.
DR PRO; PR:P0DPF3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR Bgee; ENSG00000269713; Expressed in sural nerve and 97 other tissues.
DR ExpressionAtlas; P0DPF3; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR InterPro; IPR010630; Olduvai_dom.
DR Pfam; PF06758; Olduvai; 9.
DR SMART; SM01148; DUF1220; 9.
DR PROSITE; PS51316; ODV; 9.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Reference proteome; Repeat.
FT CHAIN 1..1111
FT /note="Neuroblastoma breakpoint family member 9"
FT /id="PRO_0000288044"
FT DOMAIN 165..259
FT /note="Olduvai 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 436..528
FT /note="Olduvai 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 529..600
FT /note="Olduvai 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 601..692
FT /note="Olduvai 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 695..750
FT /note="Olduvai 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 751..843
FT /note="Olduvai 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 844..919
FT /note="Olduvai 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 920..1012
FT /note="Olduvai 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 1013..1111
FT /note="Olduvai 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT REGION 161..198
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 451..474
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 510..569
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 829..871
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 999..1033
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 70..130
FT /evidence="ECO:0000255"
FT COILED 341..401
FT /evidence="ECO:0000255"
FT COMPBIAS 165..179
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 180..198
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 539..553
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 832..847
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1001..1015
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 765..933
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16079250"
FT /id="VSP_059364"
FT CONFLICT 186
FT /note="S -> P (in Ref. 1; AAX85113)"
FT /evidence="ECO:0000305"
FT CONFLICT 200
FT /note="A -> T (in Ref. 1; AAX85113)"
FT /evidence="ECO:0000305"
FT CONFLICT 442
FT /note="D -> N (in Ref. 1; AAX85113)"
FT /evidence="ECO:0000305"
FT CONFLICT 447
FT /note="I -> V (in Ref. 1; AAX85113)"
FT /evidence="ECO:0000305"
FT CONFLICT 637
FT /note="D -> Y (in Ref. 1; AAX85113)"
FT /evidence="ECO:0000305"
FT CONFLICT 722
FT /note="L -> P (in Ref. 1; AAX85113)"
FT /evidence="ECO:0000305"
FT CONFLICT 972
FT /note="C -> W (in Ref. 1; AAX85113)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1111 AA; 127756 MW; 45ECF606F97DB02E CRC64;
MVVSAGPWSS EKAEMNILEI NEKLRPQLAE NKQQFGNLKE RCFLTQLAGF LANRQKKYKY
EECKDLIKFM LRNERQFKEE KLAEQLKQAE ELRQYKVLVH SQERELTQLK EKLREGRDAS
RSLNEHLQAL LTPDEPDKSQ GQDLQEQLAE GCRLAQHLVQ KLSPENDEDE DEDVQVEEDE
KVLESSAPRE VQKAEESKVA EDSLEECAIT CSNSHGPCDS NQPHKNIKIT FEEDEVNSTL
VVDRESSHDE CQDALNILPV PGPTSSATNV SMVVSAGPLS SEKAEMNILE INEKLRPQLA
EKKQQFRNLK EKCFLTQLAG FLANQQNKYK YEECKDLIKF MLRNERQFKE EKLAEQLKQA
EELRQYKVLV HAQERELTQL REKLREGRDA SRSLNEHLQA LLTPDEPDKS QGQDLQEQLA
EGCRLAQHLV QKLSPENDND DDEDVQIEVA EKVQKSSAPR EMQKAEEKEV PEDSLEECAI
TYSNSHGPYD SNQPHRKTKI TFEEDKVDST LIGSSSHVER EDAVHIIPEN ESDDEEEEEK
GPVSPRNLQE SEEEEVPQES WDEGYSTPSI PPEMLASYKS YSSTFHSLEE QQVCMAVDIG
RHRWDQVKKE DQEATGPRLS RELLDEKGPE VLQDSLDRCY STPSGCLELT DSCQPYRSAF
YVLEQQRVGL AVDMDEIEKY QEVEEDQDPS CPRLSRELLD EKEPEVLQDS LGRWYSTPSG
YLELPDLGQP YSSAVYSLEE QYLGLALDLD RIKKDQEEEE DQGPPCPRLS RELLEVVEPE
VLQDSLDRCY STPSSCLEQP DSCQPYGSSF YALEEKHVGF SLDVGEIEKK GKGKKRRGRR
SKKKRRRGRK EGEENQNPPC PRLSRELLDE KEPEVLQDSL DRCYSTPSGY LELPDLGQPY
SSAVYSLEEQ YLGLALDVDR IKKDQEEEED QGPPCPRLSR ELLEVVEPEV LQDSLDRCYS
TPSSCLEQPD SCQPYGSSFY ALEEKHVGFS LDVGEIEKKG KGKKRRGRRS KKERRRGRKE
GEEDQNPPCP RLNGVLMEVE EPEVLQDSLD GCYSTPSMYF ELPDSFQHYR SVFYSFEEQH
ISFALYVDNR FFTLTVTSLH LVFQMEVIFP Q
