NBPFC_HUMAN
ID NBPFC_HUMAN Reviewed; 1457 AA.
AC Q5TAG4; A0A087WUF1; O95877;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 3.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=Neuroblastoma breakpoint family member 12;
DE AltName: Full=Chromosome 1 amplified sequence 1;
GN Name=NBPF12; Synonyms=COAS1, KIAA1245;
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 1341-1457.
RC TISSUE=Brain;
RA Mei G., Yu W., Gibbs R.A.;
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=11948409; DOI=10.1038/sj.onc.1205339;
RA Meza-Zepeda L.A., Forus A., Lygren B., Dahlberg A.B., Godager L.H.,
RA South A.P., Marenholz I., Lioumi M., Florenes V.A., Maelandsmo G.M.,
RA Serra M., Mischke D., Nizetic D., Ragoussis J., Tarkkanen M., Nesland J.M.,
RA Knuutila S., Myklebost O.;
RT "Positional cloning identifies a novel cyclophilin as a candidate amplified
RT oncogene in 1q21.";
RL Oncogene 21:2261-2269(2002).
RN [4]
RP 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).
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Widely expressed with highest levels in brain,
CC ovary, mammary gland, skin and adipose tissue. Also expressed in
CC testis. Detected in a number of tumors including osteosarcoma, mammary
CC carcinoma and hepatocellular carcinoma. {ECO:0000269|PubMed:11948409,
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=CAI22485.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL139152; CAI22485.1; ALT_INIT; Genomic_DNA.
DR EMBL; AC244394; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF131738; AAD20027.1; -; mRNA.
DR CCDS; CCDS72881.1; -.
DR RefSeq; NP_001265070.1; NM_001278141.1.
DR AlphaFoldDB; Q5TAG4; -.
DR SMR; Q5TAG4; -.
DR IntAct; Q5TAG4; 2.
DR MINT; Q5TAG4; -.
DR STRING; 9606.ENSP00000478609; -.
DR iPTMnet; Q5TAG4; -.
DR PhosphoSitePlus; Q5TAG4; -.
DR BioMuta; NBPF12; -.
DR DMDM; 152123241; -.
DR jPOST; Q5TAG4; -.
DR MassIVE; Q5TAG4; -.
DR MaxQB; Q5TAG4; -.
DR PeptideAtlas; Q5TAG4; -.
DR PRIDE; Q5TAG4; -.
DR ProteomicsDB; 64850; -.
DR Antibodypedia; 73290; 16 antibodies from 6 providers.
DR Ensembl; ENST00000617844.4; ENSP00000484391.1; ENSG00000268043.8.
DR Ensembl; ENST00000617931.4; ENSP00000478609.1; ENSG00000268043.8.
DR GeneID; 149013; -.
DR KEGG; hsa:149013; -.
DR UCSC; uc057kdn.1; human.
DR CTD; 149013; -.
DR GeneCards; NBPF12; -.
DR HGNC; HGNC:24297; NBPF12.
DR HPA; ENSG00000268043; Tissue enhanced (pancreas, stomach).
DR MIM; 608607; gene.
DR neXtProt; NX_Q5TAG4; -.
DR OpenTargets; ENSG00000268043; -.
DR VEuPathDB; HostDB:ENSG00000268043; -.
DR GeneTree; ENSGT00420000029746; -.
DR InParanoid; Q5TAG4; -.
DR OrthoDB; 372685at2759; -.
DR PhylomeDB; Q5TAG4; -.
DR TreeFam; TF341151; -.
DR PathwayCommons; Q5TAG4; -.
DR SignaLink; Q5TAG4; -.
DR BioGRID-ORCS; 149013; 18 hits in 155 CRISPR screens.
DR GenomeRNAi; 149013; -.
DR Pharos; Q5TAG4; Tdark.
DR PRO; PR:Q5TAG4; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5TAG4; protein.
DR Bgee; ENSG00000268043; Expressed in sural nerve and 98 other tissues.
DR ExpressionAtlas; Q5TAG4; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR InterPro; IPR010630; Olduvai_dom.
DR Pfam; PF06758; Olduvai; 11.
DR SMART; SM01148; DUF1220; 11.
DR PROSITE; PS51316; ODV; 11.
PE 2: Evidence at transcript level;
KW Coiled coil; Cytoplasm; Reference proteome; Repeat.
FT CHAIN 1..1457
FT /note="Neuroblastoma breakpoint family member 12"
FT /id="PRO_0000288047"
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..871
FT /note="Olduvai 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 872..963
FT /note="Olduvai 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 966..1021
FT /note="Olduvai 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 1022..1114
FT /note="Olduvai 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 1115..1207
FT /note="Olduvai 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 1210..1265
FT /note="Olduvai 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 1266..1358
FT /note="Olduvai 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT DOMAIN 1359..1457
FT /note="Olduvai 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00647"
FT REGION 162..200
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 432..472
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 721..746
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 791..838
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1100..1139
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1344..1378
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 75..119
FT /evidence="ECO:0000255"
FT COILED 339..390
FT /evidence="ECO:0000255"
FT COILED 610..661
FT /evidence="ECO:0000255"
FT COMPBIAS 165..179
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 180..200
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 436..450
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 451..472
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 COMPBIAS 1119..1139
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1347..1362
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1457 AA; 167689 MW; 0AE1FB4CBD2C1094 CRC64;
MVVSAGPWSS EKAEMNILEI NEKLRPQLAE NKQQFRNLKE RCFLTQLAGF LANRQKKYKY
EECKDLIKFM LRNERQFKEE KLAEQLKQAE ELRQYKVLVH SQERELTQLR EKLREGRDAS
RSLNEHLQAL LTPDEPDKSQ GQDLQEQLAE GCRLAQQLVQ KLSPENDEDE DEDVQVEEDE
KVLESSAPRE VQKAEESKVP EDSLEECAIT CSNSHGPCDS IQPHKNIKIT FEEDKVNSTV
VVDRKSSHDE CQDALNILPV PGPTSSATNV SMVVSAGPLS SEKAEMNILE INEKLRPQLA
EKKQQFRSLK EKCFVTQLAG FLAKQQNKYK YEECKDLIKS MLRNELQFKE EKLAEQLKQA
EELRQYKVLV HSQERELTQL REKLREGRDA SRSLNEHLQA LLTPDEPDKS QGQDLQEQLA
EGCRLAQHLV QKLSPENDED EDEDVQVEED EKVLESSSPR EMQKAEESKV PEDSLEECAI
TCSNSHGPCD SNQPHKNIKI TFEEDKVNSS LVVDRESSHD ECQDALNILP VPGPTSSATN
VSMVVSAGPL SSEKAEMNIL EINEKLRPQL AEKKQQFRSL KEKCFVTQVA CFLAKQQNKY
KYEECKDLLK SMLRNELQFK EEKLAEQLKQ AEELRQYKVL VHSQERELTQ LREKLREGRD
ASRSLNEHLQ ALLTPDEPDK SQGQDLQEQL AEGCRLAQHL VQKLSPENDN DDDEDVQVEV
AEKVQKSSSP REMQKAEEKE VPEDSLEECA ITCSNSHGPY DSNQPHRKTK ITFEEDKVDS
TLIGSSSHVE WEDAVHIIPE NESDDEEEEE KGPVSPRNLQ ESEEEEVPQE SWDEGYSTLS
IPPERLASYQ SYSSTFHSLE EQQVCMAVDI GRHRWDQVKK EDQEATGPRL SRELLAEKEP
EVLQDSLDRC YSTPSVYLGL TDSCQPYRSA FYVLEQQRVG LAVDMDEIEK YQEVEEDQDP
SCPRLSRELL AEKEPEVLQD SLDRCYSTPS GYLELPDLGQ PYRSAVYSLE EQYLGLALDV
DRIKKDQEEE EDQGPPCPRL SRELLEVVEP EVLQDSLDRC YSTPSSCLEQ PDSCQPYRSS
FYALEEKHVG FSLDVGEIEK KGKGKKRRGR RSKKKRRRGR KEGEEDQNPP CPRLSRELLA
EKEPEVLQDS LDRWYSTPSV YLGLTDPCQP YRSAFYVLEQ QRVGLAVDMD EIEKYQEVEE
DQDPSCPRLS RELLAEKEPE VLQDSLDRCY STPSGYLELP DLGQPYRSAV YSLEEQYLGL
ALDVDRIKKD QEEEEDQGPP CPRLSRELLE VVEPEVLQDS LDRCYSTPSS CLEQPDSCQP
YRSSFYALEE KHVGFSLDVG EIEKKGKGKK RRGRRSKKKR RRGRKEGEED QNPPCPRLNS
VLMEVEEPEV LQDSLDRCYS TPSMYFELPD SFQHYRSVFY SFEEQHITFA LDMDNSFFTL
TVTSLHLVFQ MGVIFPQ
