A2RRP1 (NBAS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neuroblastoma-amplified sequence

Alternative name(s):
Neuroblastoma-amplified gene protein

Gene names

Name:	NBAS
Synonyms:	NAG

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2371 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Cytoplasm Ref.11.
Tissue specificity	Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-myc in some neuroblastoma cell lines. Ref.1 Ref.4 Ref.6 Ref.11
Involvement in disease	Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) [MIM:614800]: An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11
Sequence similarities	Contains 2 WD repeats.
Sequence caution	The sequence AAD18133.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAD18133.1 differs from that shown. Reason: Erroneous termination at position 2372. Translated as stop. The sequence CAB43382.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Dwarfism
Domain	Repeat WD repeat
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: A2RRP1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: A2RRP1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     860-979: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2371	2371	Neuroblastoma-amplified sequence		PRO_0000292806
Regions
	Repeat	130 – 169	40	WD 1
	Repeat	316 – 355	40	WD 2
	Compositional bias	1421 – 1425	5	Poly-Thr
	Compositional bias	2242 – 2247	6	Poly-Leu
Amino acid modifications
	Modified residue	473	1	Phosphoserine Ref.7 Ref.9 Ref.13
	Modified residue	475	1	Phosphoserine Ref.7 Ref.9 Ref.13
	Modified residue	1057	1	N6-acetyllysine Ref.10
Natural variations
	Alternative sequence	860 – 979	120	Missing in isoform 2.		VSP_026445
	Natural variant	44	1	Q → E. Ref.11		VAR_068954
	Natural variant	243	1	I → V. Ref.2 Corresponds to variant rs13029846 [ dbSNP | Ensembl ].		VAR_057611
	Natural variant	655	1	K → R. Ref.1 Ref.2 Corresponds to variant rs4668909 [ dbSNP | Ensembl ].		VAR_057612
	Natural variant	949	1	V → L. Ref.11		VAR_068955
	Natural variant	1004	1	R → Q. Corresponds to variant rs16862653 [ dbSNP | Ensembl ].		VAR_057613
	Natural variant	1009	1	C → S. Ref.11		VAR_068956
	Natural variant	1178	1	S → N. Corresponds to variant rs35770368 [ dbSNP | Ensembl ].		VAR_057614
	Natural variant	1914	1	R → H in SOPH. Ref.11		VAR_068957
	Natural variant	2074	1	A → T. Ref.3 Corresponds to variant rs6710817 [ dbSNP | Ensembl ].		VAR_057615
Experimental info
	Sequence conflict	22	1	I → T in AAM93544. Ref.1
	Sequence conflict	533	1	K → E in AAM93544. Ref.1
	Sequence conflict	745	1	F → L in AAM93544. Ref.1
	Sequence conflict	1102	1	M → T in AAM93544. Ref.1
	Sequence conflict	1229	1	K → E in AAD18133. Ref.4
	Sequence conflict	1277	1	E → G in AAM93544. Ref.1
	Sequence conflict	1784	1	H → Y in AAM93544. Ref.1
	Sequence conflict	1797	1	G → S in AAM93544. Ref.1
	Sequence conflict	1854	1	L → S in AAM93544. Ref.1
	Sequence conflict	1997	1	E → D in AAD18133. Ref.4
	Sequence conflict	2028	1	P → L in AAD18133. Ref.4
	Sequence conflict	2030	1	D → N in AAD18133. Ref.4
	Sequence conflict	2033	1	P → T in AAD18133. Ref.4
	Sequence conflict	2171	1	A → T in AAD18133. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 3, 2009. Version 2. Checksum: 54500EFAA487FB94	FASTA	2,371	268,571
	10 20 30 40 50 60 MAAPESGPAL SPGTAEGEEE TILYDLLVNT EWPPETEVQP RGNQKHGASF IITKAIRDRL 70 80 90 100 110 120 LFLRQYIWYS PAPFLLPDGL VRLVNKQINW HLVLASNGKL LAAVQDQCVE IRSAKDDFTS 130 140 150 160 170 180 IIGKCQVPKD PKPQWRRVAW SYDCTLLAYA ESTGTVRVFD LMGSELFVIS PASSFIGDLS 190 200 210 220 230 240 YAIAGLIFLE YKASAQWSAE LLVINYRGEL RSYLVSVGTN QSYQESHCFS FSSHYPHGIN 250 260 270 280 290 300 TAIYHPGHRL LLVGGCETAE VGMSKASSCG LSAWRVLSGS PYYKQVTNGG DGVTAVPKTL 310 320 330 340 350 360 GLLRMLSVKF YSRQGQEQDG IFKMSLSPDG MLLAAIHFSG KLSIWAIPSL KQQGEWGQNE 370 380 390 400 410 420 QPGYDDLNPD WRLSTEKRKK IKDKESFYPL IDVNWWADSA VTLARCSGAL TVSSVKTLKN 430 440 450 460 470 480 LLGKSCEWFE PSPQVTATHD GGFLSLECEI KLAPKRSRLE TRAGEEDEGE EDSDSDYEIS 490 500 510 520 530 540 AKARYFGYIK QGLYLVTEME RFAPPRKRPR TITKNYRLVS LRSTTPEELY QRKIESEEYE 550 560 570 580 590 600 EALSLAHTYG LDTDLVYQRQ WRKSAVNVAS IQNYLSKIKK RSWVLHECLE RVPENVDAAK 610 620 630 640 650 660 ELLQYGLKGT DLEALLAIGK GADDGRFTLP GEIDIDSISY EELSPPDEEP AKNKKEKELK 670 680 690 700 710 720 KRQELLKLVN FSKLTLEQKE LCRCRRKLLT YLDRLATYEE ILGVPHASEQ RYDAEFFKKF 730 740 750 760 770 780 RNQNIVLSAR TYAQESNVQA LEILFTYHGS DLLPHRLAIL SNFPETTSPH EYSVLLPEAC 790 800 810 820 830 840 FNGDSLMIIP WHEHKHRAKD WCEELACRMV VEPNLQDESE FLYAAQPELL RFRMTQLTVE 850 860 870 880 890 900 KVMDWYQTRA EEIEHYARQV DCALSLIRLG MERNIPGLLV LCDNLVTLET LVYEARCDVT 910 920 930 940 950 960 LTLKELQQMK DIEKLRLLMN SCSEDKYVTS AYQWMVPFLH RCEKQSPGVA NELLKEYLVT 970 980 990 1000 1010 1020 LAKGDLKFPL KIFQHSKPDL QQKIIPDQDQ LMAIALECIY TCERNDQLCL CYDLLECLPE 1030 1040 1050 1060 1070 1080 RGYGDKTEAT TKLHDMVDQL EQILSVSELL EKHGLEKPIS FVKNTQSSSE EARKLMVRLT 1090 1100 1110 1120 1130 1140 RHTGRKQPPV SESHWRTLLQ DMLTMQQNVY TCLDSDACYE IFTESLLCSS RLENIHLAGQ 1150 1160 1170 1180 1190 1200 MMHCSACSEN PPAGIAHKGK PHYRVSYEKS IDLVLAASRE YFNSSTNLTD SCMDLARCCL 1210 1220 1230 1240 1250 1260 QLITDRPPAI QEELDLIQAV GCLEEFGVKI LPLQVRLCPD RISLIKECIS QSPTCYKQST 1270 1280 1290 1300 1310 1320 KLLGLAELLR VAGENPEERR GQVLILLVEQ ALRFHDYKAA SMHCQELMAT GYPKSWDVCS 1330 1340 1350 1360 1370 1380 QLGQSEGYQD LATRQELMAF ALTHCPPSSI ELLLAASSSL QTEILYQRVN FQIHHEGGEN 1390 1400 1410 1420 1430 1440 ISASPLTSKA VQEDEVGVPG SNSADLLRWT TATTMKVLSN TTTTTKAVLQ AVSDGQWWKK 1450 1460 1470 1480 1490 1500 SLTYLRPLQG QKCGGAYQIG TTANEDLEKQ GCHPFYESVI SNPFVAESEG TYDTYQHVPV 1510 1520 1530 1540 1550 1560 ESFAEVLLRT GKLAEAKNKG EVFPTTEVLL QLASEALPND MTLALAYLLA LPQVLDANRC 1570 1580 1590 1600 1610 1620 FEKQSPSALS LQLAAYYYSL QIYARLAPCF RDKCHPLYRA DPKELIKMVT RHVTRHEHEA 1630 1640 1650 1660 1670 1680 WPEDLISLTK QLHCYNERLL DFTQAQILQG LRKGVDVQRF TADDQYKRET ILGLAETLEE 1690 1700 1710 1720 1730 1740 SVYSIAISLA QRYSVSRWEV FMTHLEFLFT DSGLSTLEIE NRAQDLHLFE TLKTDPEAFH 1750 1760 1770 1780 1790 1800 QHMVKYIYPT IGGFDHERLQ YYFTLLENCG CADLGNCAIK PETHIRLLKK FKVVASGLNY 1810 1820 1830 1840 1850 1860 KKLTDENMSP LEALEPVLSS QNILSISKLV PKIPEKDGQM LSPSSLYTIW LQKLFWTGDP 1870 1880 1890 1900 1910 1920 HLIKQVPGSS PEWLHAYDVC MKYFDRLHPG DLITVVDAVT FSPKAVTKLS VEARKEMTRK 1930 1940 1950 1960 1970 1980 AIKTVKHFIE KPRKRNSEDE AQEAKDSKVT YADTLNHLEK SLAHLETLSH SFILSLKNSE 1990 2000 2010 2020 2030 2040 QETLQKYSHL YDLSRSEKEK LHDEAVAICL DGQPLAMIQQ LLEVAVGPLD ISPKDIVQSA 2050 2060 2070 2080 2090 2100 IMKIISALSG GSADLGGPRD PLKVLEGVVA AVHASVDKGE ELVSPEDLLE WLRPFCADDA 2110 2120 2130 2140 2150 2160 WPVRPRIHVL QILGQSFHLT EEDSKLLVFF RTEAILKASW PQRQVDIADI ENEENRYCLF 2170 2180 2190 2200 2210 2220 MELLESSHHE AEFQHLVLLL QAWPPMKSEY VITNNPWVRL ATVMLTRCTM ENKEGLGNEV 2230 2240 2250 2260 2270 2280 LKMCRSLYNT KQMLPAEGVK ELCLLLLNQS LLLPSLKLLL ESRDEHLHEM ALEQITAVTT 2290 2300 2310 2320 2330 2340 VNDSNCDQEL LSLLLDAKLL VKCVSTPFYP RIVDHLLASL QQGRWDAEEL GRHLREAGHE 2350 2360 2370 AEAGSLLLAV RGTHQAFRTF STALRAAQHW V
	Isoform 2 [UniParc]. Checksum: C253AF9620FDA14E	FASTA	2,251	254,816
	10 20 30 40 50 60 MAAPESGPAL SPGTAEGEEE TILYDLLVNT EWPPETEVQP RGNQKHGASF IITKAIRDRL 70 80 90 100 110 120 LFLRQYIWYS PAPFLLPDGL VRLVNKQINW HLVLASNGKL LAAVQDQCVE IRSAKDDFTS 130 140 150 160 170 180 IIGKCQVPKD PKPQWRRVAW SYDCTLLAYA ESTGTVRVFD LMGSELFVIS PASSFIGDLS 190 200 210 220 230 240 YAIAGLIFLE YKASAQWSAE LLVINYRGEL RSYLVSVGTN QSYQESHCFS FSSHYPHGIN 250 260 270 280 290 300 TAIYHPGHRL LLVGGCETAE VGMSKASSCG LSAWRVLSGS PYYKQVTNGG DGVTAVPKTL 310 320 330 340 350 360 GLLRMLSVKF YSRQGQEQDG IFKMSLSPDG MLLAAIHFSG KLSIWAIPSL KQQGEWGQNE 370 380 390 400 410 420 QPGYDDLNPD WRLSTEKRKK IKDKESFYPL IDVNWWADSA VTLARCSGAL TVSSVKTLKN 430 440 450 460 470 480 LLGKSCEWFE PSPQVTATHD GGFLSLECEI KLAPKRSRLE TRAGEEDEGE EDSDSDYEIS 490 500 510 520 530 540 AKARYFGYIK QGLYLVTEME RFAPPRKRPR TITKNYRLVS LRSTTPEELY QRKIESEEYE 550 560 570 580 590 600 EALSLAHTYG LDTDLVYQRQ WRKSAVNVAS IQNYLSKIKK RSWVLHECLE RVPENVDAAK 610 620 630 640 650 660 ELLQYGLKGT DLEALLAIGK GADDGRFTLP GEIDIDSISY EELSPPDEEP AKNKKEKELK 670 680 690 700 710 720 KRQELLKLVN FSKLTLEQKE LCRCRRKLLT YLDRLATYEE ILGVPHASEQ RYDAEFFKKF 730 740 750 760 770 780 RNQNIVLSAR TYAQESNVQA LEILFTYHGS DLLPHRLAIL SNFPETTSPH EYSVLLPEAC 790 800 810 820 830 840 FNGDSLMIIP WHEHKHRAKD WCEELACRMV VEPNLQDESE FLYAAQPELL RFRMTQLTVE 850 860 870 880 890 900 KVMDWYQTRA EEIEHYARQL QQKIIPDQDQ LMAIALECIY TCERNDQLCL CYDLLECLPE 910 920 930 940 950 960 RGYGDKTEAT TKLHDMVDQL EQILSVSELL EKHGLEKPIS FVKNTQSSSE EARKLMVRLT 970 980 990 1000 1010 1020 RHTGRKQPPV SESHWRTLLQ DMLTMQQNVY TCLDSDACYE IFTESLLCSS RLENIHLAGQ 1030 1040 1050 1060 1070 1080 MMHCSACSEN PPAGIAHKGK PHYRVSYEKS IDLVLAASRE YFNSSTNLTD SCMDLARCCL 1090 1100 1110 1120 1130 1140 QLITDRPPAI QEELDLIQAV GCLEEFGVKI LPLQVRLCPD RISLIKECIS QSPTCYKQST 1150 1160 1170 1180 1190 1200 KLLGLAELLR VAGENPEERR GQVLILLVEQ ALRFHDYKAA SMHCQELMAT GYPKSWDVCS 1210 1220 1230 1240 1250 1260 QLGQSEGYQD LATRQELMAF ALTHCPPSSI ELLLAASSSL QTEILYQRVN FQIHHEGGEN 1270 1280 1290 1300 1310 1320 ISASPLTSKA VQEDEVGVPG SNSADLLRWT TATTMKVLSN TTTTTKAVLQ AVSDGQWWKK 1330 1340 1350 1360 1370 1380 SLTYLRPLQG QKCGGAYQIG TTANEDLEKQ GCHPFYESVI SNPFVAESEG TYDTYQHVPV 1390 1400 1410 1420 1430 1440 ESFAEVLLRT GKLAEAKNKG EVFPTTEVLL QLASEALPND MTLALAYLLA LPQVLDANRC 1450 1460 1470 1480 1490 1500 FEKQSPSALS LQLAAYYYSL QIYARLAPCF RDKCHPLYRA DPKELIKMVT RHVTRHEHEA 1510 1520 1530 1540 1550 1560 WPEDLISLTK QLHCYNERLL DFTQAQILQG LRKGVDVQRF TADDQYKRET ILGLAETLEE 1570 1580 1590 1600 1610 1620 SVYSIAISLA QRYSVSRWEV FMTHLEFLFT DSGLSTLEIE NRAQDLHLFE TLKTDPEAFH 1630 1640 1650 1660 1670 1680 QHMVKYIYPT IGGFDHERLQ YYFTLLENCG CADLGNCAIK PETHIRLLKK FKVVASGLNY 1690 1700 1710 1720 1730 1740 KKLTDENMSP LEALEPVLSS QNILSISKLV PKIPEKDGQM LSPSSLYTIW LQKLFWTGDP 1750 1760 1770 1780 1790 1800 HLIKQVPGSS PEWLHAYDVC MKYFDRLHPG DLITVVDAVT FSPKAVTKLS VEARKEMTRK 1810 1820 1830 1840 1850 1860 AIKTVKHFIE KPRKRNSEDE AQEAKDSKVT YADTLNHLEK SLAHLETLSH SFILSLKNSE 1870 1880 1890 1900 1910 1920 QETLQKYSHL YDLSRSEKEK LHDEAVAICL DGQPLAMIQQ LLEVAVGPLD ISPKDIVQSA 1930 1940 1950 1960 1970 1980 IMKIISALSG GSADLGGPRD PLKVLEGVVA AVHASVDKGE ELVSPEDLLE WLRPFCADDA 1990 2000 2010 2020 2030 2040 WPVRPRIHVL QILGQSFHLT EEDSKLLVFF RTEAILKASW PQRQVDIADI ENEENRYCLF 2050 2060 2070 2080 2090 2100 MELLESSHHE AEFQHLVLLL QAWPPMKSEY VITNNPWVRL ATVMLTRCTM ENKEGLGNEV 2110 2120 2130 2140 2150 2160 LKMCRSLYNT KQMLPAEGVK ELCLLLLNQS LLLPSLKLLL ESRDEHLHEM ALEQITAVTT 2170 2180 2190 2200 2210 2220 VNDSNCDQEL LSLLLDAKLL VKCVSTPFYP RIVDHLLASL QQGRWDAEEL GRHLREAGHE 2230 2240 2250 AEAGSLLLAV RGTHQAFRTF STALRAAQHW V

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma." Scott D.K., Board J.R., Lu X., Pearson A.D.J., Kenyon R.M., Lunec J. Gene 307:1-11(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-655, TISSUE SPECIFICITY. Tissue: Neuroblastoma.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS VAL-243 AND ARG-655.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 834-2371 (ISOFORM 2), VARIANT THR-2074. Tissue: Eye and PNS.
[4]	"Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma." Wimmer K., Zhu X.X., Lamb B.J., Kuick R., Ambros P.F., Kovar H., Thoraval D., Motyka S., Alberts J.R., Hanash S.M. Oncogene 18:233-238(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 993-2371 (ISOFORMS 1/2), TISSUE SPECIFICITY.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1068-2371 (ISOFORMS 1/2). Tissue: Uterus.
[6]	"Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon." Fruehwald M.C., O'Dorisio M.S., Rush L.J., Reiter J.L., Smiraglia D.J., Wenger G., Costello J.F., White P.S., Krahe R., Brodeur G.M., Plass C. J. Med. Genet. 37:501-509(2000) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Liver.
[9]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[10]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-1057, MASS SPECTROMETRY.
[11]	"Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly." Maksimova N., Hara K., Nikolaeva I., Chun-Feng T., Usui T., Takagi M., Nishihira Y., Miyashita A., Fujiwara H., Oyama T., Nogovicina A., Sukhomyasova A., Potapova S., Kuwano R., Takahashi H., Nishizawa M., Onodera O. J. Med. Genet. 47:538-548(2010) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT SOPH HIS-1914, VARIANTS GLU-44; LEU-949 AND SER-1009.
[12]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF388385 mRNA. Translation: AAM93544.1. AC007738 Genomic DNA. No translation available. AC074184 Genomic DNA. No translation available. AC008278 Genomic DNA. No translation available. AC008282 Genomic DNA. Translation: AAY24347.1. BC051792 mRNA. Translation: AAH51792.2. BC108693 mRNA. Translation: AAI08694.1. Different termination. BC131735 mRNA. Translation: AAI31736.1. AF056195 mRNA. Translation: AAD18133.1. Sequence problems. AL050281 mRNA. Translation: CAB43382.1. Different initiation.
IPI	IPI00333913. IPI00847551.
PIR	T13150.
RefSeq	NP_056993.2. NM_015909.3.
UniGene	Hs.467759.
3D structure databases
ProteinModelPortal	A2RRP1.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-56726N.
IntAct	A2RRP1. 3 interactions.
MINT	MINT-4838513.
STRING	9606.ENSP00000281513.
PTM databases
PhosphoSite	A2RRP1.
Proteomic databases
PaxDb	A2RRP1.
PeptideAtlas	A2RRP1.
PRIDE	A2RRP1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000281513; ENSP00000281513; ENSG00000151779. ENST00000441750; ENSP00000413201; ENSG00000151779.
GeneID	51594.
KEGG	hsa:51594.
UCSC	uc002rcc.1. human. uc010exl.1. human.
Organism-specific databases
CTD	51594.
GeneCards	GC02M015224.
H-InvDB	HIX0001840.
HGNC	HGNC:15625. NBAS.
HPA	HPA036817.
MIM	608025. gene. 614800. phenotype.
neXtProt	NX_A2RRP1.
PharmGKB	PA164723457.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG293605.
HOGENOM	HOG000113737.
InParanoid	A2RRP1.
OMA	IDVNWWA.
OrthoDB	EOG42NHZF.
PhylomeDB	A2RRP1.
Gene expression databases
ArrayExpress	A2RRP1.
Bgee	A2RRP1.
Genevestigator	A2RRP1.
Family and domain databases
Gene3D	2.130.10.10. 3 hits.
InterPro	IPR011044. Quino_amine_DH_bsu. IPR013244. Sec39. IPR015943. WD40/YVTN_repeat-like_dom. [Graphical view]
Pfam	PF08314. Sec39. 1 hit. [Graphical view]
SUPFAM	SSF50969. Amine_DH_B_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	NBAS. human.
GenomeRNAi	51594.
NextBio	55444.
SOURCE	Search...

Entry information

Entry name

NBAS_HUMAN

Accession

Primary (citable) accession number: A2RRP1
Secondary accession number(s): O95790 , Q2VPJ7, Q53TK6, Q86V39, Q8NFY8, Q9Y3W5

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	March 3, 2009
Last modified:	May 1, 2013
This is version 56 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.