NBPF6_HUMAN
ID NBPF6_HUMAN Reviewed; 638 AA.
AC Q5VWK0; A4QN25;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Neuroblastoma breakpoint family member 6;
GN Name=NBPF6;
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 [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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-573 (ISOFORM 2).
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=2;
CC Name=1;
CC IsoId=Q5VWK0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VWK0-2; Sequence=VSP_053911;
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; AL390038; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL392088; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX323851; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX649306; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC125161; AAI25162.1; -; mRNA.
DR CCDS; CCDS44184.1; -. [Q5VWK0-1]
DR RefSeq; NP_001137459.1; NM_001143987.1. [Q5VWK0-2]
DR RefSeq; NP_001137460.1; NM_001143988.1. [Q5VWK0-1]
DR AlphaFoldDB; Q5VWK0; -.
DR SMR; Q5VWK0; -.
DR BioGRID; 575562; 5.
DR iPTMnet; Q5VWK0; -.
DR PhosphoSitePlus; Q5VWK0; -.
DR BioMuta; NBPF6; -.
DR DMDM; 152123238; -.
DR jPOST; Q5VWK0; -.
DR MassIVE; Q5VWK0; -.
DR PaxDb; Q5VWK0; -.
DR PeptideAtlas; Q5VWK0; -.
DR PRIDE; Q5VWK0; -.
DR ProteomicsDB; 65532; -. [Q5VWK0-1]
DR Antibodypedia; 71921; 52 antibodies from 15 providers.
DR DNASU; 653149; -.
DR Ensembl; ENST00000370040.7; ENSP00000359057.3; ENSG00000186086.19. [Q5VWK0-2]
DR Ensembl; ENST00000495380.7; ENSP00000417277.2; ENSG00000186086.19. [Q5VWK0-1]
DR GeneID; 653149; -.
DR KEGG; hsa:653149; -.
DR MANE-Select; ENST00000495380.7; ENSP00000417277.2; NM_001143988.2; NP_001137460.1.
DR UCSC; uc009wep.3; human. [Q5VWK0-1]
DR CTD; 653149; -.
DR GeneCards; NBPF6; -.
DR HGNC; HGNC:31988; NBPF6.
DR HPA; ENSG00000186086; Tissue enhanced (testis).
DR MIM; 613996; gene.
DR neXtProt; NX_Q5VWK0; -.
DR OpenTargets; ENSG00000186086; -.
DR PharmGKB; PA142671286; -.
DR VEuPathDB; HostDB:ENSG00000186086; -.
DR eggNOG; ENOG502RU1I; Eukaryota.
DR GeneTree; ENSGT00420000029746; -.
DR HOGENOM; CLU_030855_0_0_1; -.
DR InParanoid; Q5VWK0; -.
DR OMA; NSYPHHE; -.
DR OrthoDB; 372685at2759; -.
DR PhylomeDB; Q5VWK0; -.
DR TreeFam; TF341151; -.
DR PathwayCommons; Q5VWK0; -.
DR BioGRID-ORCS; 653149; 23 hits in 941 CRISPR screens.
DR ChiTaRS; NBPF6; human.
DR GenomeRNAi; 653149; -.
DR Pharos; Q5VWK0; Tdark.
DR PRO; PR:Q5VWK0; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VWK0; protein.
DR Bgee; ENSG00000186086; Expressed in testis and 23 other tissues.
DR ExpressionAtlas; Q5VWK0; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR InterPro; IPR010630; Olduvai_dom.
DR Pfam; PF06758; Olduvai; 3.
DR SMART; SM01148; DUF1220; 4.
DR PROSITE; PS51316; ODV; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Cytoplasm; Reference proteome; Repeat.
FT CHAIN 1..638
FT /note="Neuroblastoma breakpoint family member 6"
FT /id="PRO_0000288041"
FT DOMAIN 174..261
FT /note="Olduvai 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 326..399
FT /note="Olduvai 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 400..503
FT /note="Olduvai 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT REGION 157..285
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 563..584
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 10..43
FT /evidence="ECO:0000255"
FT COILED 69..115
FT /evidence="ECO:0000255"
FT COMPBIAS 166..181
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 182..205
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 208..228
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 229..285
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 279
FT /note="R -> RNRQSLEPGELTNLRDFLISPVVSHVANPG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053911"
SQ SEQUENCE 638 AA; 72239 MW; 28FCCEA06EC28CC6 CRC64;
MVVSADPLSS ERAEMNILEI NQELRSQLAE SNQQFRDLKE KFLITQATAY SLANQLKKYK
CEEYKDIIDS VLRDELQSME KLAEKLRQAE ELRQYKALVH SQAKELTQLR EKLREGRDAS
RWLNKHLKTL LTPDDPDKSQ GQDLREQLAE GHRLAEHLVH KLSPENDEDE DEDEDDKDEE
VEKVQESPAP REVQKTEEKE VPQDSLEECA VTCSNSHNPS NSNQPHRSTK ITFKEHEVDS
ALVVESEHPH DEEEEALNIP PENQNDHEEE EGKAPVPPRH HDKSNSYRHR EVSFLALDEQ
KVCSAQDVAR DYSNPKWDET SLGFLEKQSD LEEVKGQETV APRLSRGPLR VDKHEIPQES
LDGCCLTPSI LPDLTPSYHP YWSTLYSFED KQVSLALVDK IKKDQEEIED QSPPCPRLSQ
ELPEVKEQEV PEDSVNEVYL TPSVHHDVSD CHQPYSSTLS SLEDQLACSA LDVASPTEAA
CPQGTWSGDL SHHRSEVQIS QAQLEPSTLV PSCLRLQLDQ GFHCGNGLAQ RGLSSTTCSF
SANADSGNQW PFQELVLEPS LGMKNPPQLE DDALEGSASN TQGRQVTGRI RASLVLILKT
IRRRLPFSKW RLAFRFAGPH AESAEIPNTA ERMQRMIG
