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A2RRP1

- NBAS_HUMAN

UniProt

A2RRP1 - NBAS_HUMAN

Protein

Neuroblastoma-amplified sequence

Gene

NBAS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 2 (03 Mar 2009)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: UniProt
    2. nuclear-transcribed mRNA catabolic process Source: UniProt

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neuroblastoma-amplified sequence
    Alternative name(s):
    Neuroblastoma-amplified gene protein
    Gene namesi
    Name:NBAS
    Synonyms:NAG
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:15625. NBAS.

    Subcellular locationi

    Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1914 – 19141R → H in SOPH. 1 Publication
    VAR_068957

    Keywords - Diseasei

    Disease mutation, Dwarfism

    Organism-specific databases

    MIMi614800. phenotype.
    Orphaneti391677. Short stature-optic atrophy-Pelger-Huet anomaly syndrome.
    PharmGKBiPA164723457.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 23712371Neuroblastoma-amplified sequencePRO_0000292806Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei473 – 4731Phosphoserine3 Publications
    Modified residuei475 – 4751Phosphoserine3 Publications
    Modified residuei1057 – 10571N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiA2RRP1.
    PaxDbiA2RRP1.
    PeptideAtlasiA2RRP1.
    PRIDEiA2RRP1.

    PTM databases

    PhosphoSiteiA2RRP1.

    Expressioni

    Tissue specificityi

    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.4 Publications

    Gene expression databases

    ArrayExpressiA2RRP1.
    BgeeiA2RRP1.
    GenevestigatoriA2RRP1.

    Organism-specific databases

    HPAiHPA036817.

    Interactioni

    Protein-protein interaction databases

    BioGridi119627. 2 interactions.
    DIPiDIP-56726N.
    IntActiA2RRP1. 3 interactions.
    MINTiMINT-4838513.
    STRINGi9606.ENSP00000281513.

    Structurei

    3D structure databases

    ProteinModelPortaliA2RRP1.
    SMRiA2RRP1. Positions 319-349.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati130 – 16940WD 1Add
    BLAST
    Repeati316 – 35540WD 2Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1421 – 14255Poly-Thr
    Compositional biasi2242 – 22476Poly-Leu

    Sequence similaritiesi

    Contains 2 WD repeats.Curated

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiNOG293605.
    HOGENOMiHOG000113737.
    InParanoidiA2RRP1.
    OMAiIDVNWWA.
    OrthoDBiEOG7C5M7C.
    PhylomeDBiA2RRP1.
    TreeFamiTF313901.

    Family and domain databases

    Gene3Di2.130.10.10. 3 hits.
    InterProiIPR029145. NBAS_N.
    IPR011044. Quino_amine_DH_bsu.
    IPR013244. Sec39.
    IPR015943. WD40/YVTN_repeat-like_dom.
    [Graphical view]
    PfamiPF15492. Nbas_N. 1 hit.
    PF08314. Sec39. 1 hit.
    [Graphical view]
    SUPFAMiSSF50969. SSF50969. 2 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A2RRP1-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAAPESGPAL SPGTAEGEEE TILYDLLVNT EWPPETEVQP RGNQKHGASF     50
    IITKAIRDRL LFLRQYIWYS PAPFLLPDGL VRLVNKQINW HLVLASNGKL 100
    LAAVQDQCVE IRSAKDDFTS IIGKCQVPKD PKPQWRRVAW SYDCTLLAYA 150
    ESTGTVRVFD LMGSELFVIS PASSFIGDLS YAIAGLIFLE YKASAQWSAE 200
    LLVINYRGEL RSYLVSVGTN QSYQESHCFS FSSHYPHGIN TAIYHPGHRL 250
    LLVGGCETAE VGMSKASSCG LSAWRVLSGS PYYKQVTNGG DGVTAVPKTL 300
    GLLRMLSVKF YSRQGQEQDG IFKMSLSPDG MLLAAIHFSG KLSIWAIPSL 350
    KQQGEWGQNE QPGYDDLNPD WRLSTEKRKK IKDKESFYPL IDVNWWADSA 400
    VTLARCSGAL TVSSVKTLKN LLGKSCEWFE PSPQVTATHD GGFLSLECEI 450
    KLAPKRSRLE TRAGEEDEGE EDSDSDYEIS AKARYFGYIK QGLYLVTEME 500
    RFAPPRKRPR TITKNYRLVS LRSTTPEELY QRKIESEEYE EALSLAHTYG 550
    LDTDLVYQRQ WRKSAVNVAS IQNYLSKIKK RSWVLHECLE RVPENVDAAK 600
    ELLQYGLKGT DLEALLAIGK GADDGRFTLP GEIDIDSISY EELSPPDEEP 650
    AKNKKEKELK KRQELLKLVN FSKLTLEQKE LCRCRRKLLT YLDRLATYEE 700
    ILGVPHASEQ RYDAEFFKKF RNQNIVLSAR TYAQESNVQA LEILFTYHGS 750
    DLLPHRLAIL SNFPETTSPH EYSVLLPEAC FNGDSLMIIP WHEHKHRAKD 800
    WCEELACRMV VEPNLQDESE FLYAAQPELL RFRMTQLTVE KVMDWYQTRA 850
    EEIEHYARQV DCALSLIRLG MERNIPGLLV LCDNLVTLET LVYEARCDVT 900
    LTLKELQQMK DIEKLRLLMN SCSEDKYVTS AYQWMVPFLH RCEKQSPGVA 950
    NELLKEYLVT LAKGDLKFPL KIFQHSKPDL QQKIIPDQDQ LMAIALECIY 1000
    TCERNDQLCL CYDLLECLPE RGYGDKTEAT TKLHDMVDQL EQILSVSELL 1050
    EKHGLEKPIS FVKNTQSSSE EARKLMVRLT RHTGRKQPPV SESHWRTLLQ 1100
    DMLTMQQNVY TCLDSDACYE IFTESLLCSS RLENIHLAGQ MMHCSACSEN 1150
    PPAGIAHKGK PHYRVSYEKS IDLVLAASRE YFNSSTNLTD SCMDLARCCL 1200
    QLITDRPPAI QEELDLIQAV GCLEEFGVKI LPLQVRLCPD RISLIKECIS 1250
    QSPTCYKQST KLLGLAELLR VAGENPEERR GQVLILLVEQ ALRFHDYKAA 1300
    SMHCQELMAT GYPKSWDVCS QLGQSEGYQD LATRQELMAF ALTHCPPSSI 1350
    ELLLAASSSL QTEILYQRVN FQIHHEGGEN ISASPLTSKA VQEDEVGVPG 1400
    SNSADLLRWT TATTMKVLSN TTTTTKAVLQ AVSDGQWWKK SLTYLRPLQG 1450
    QKCGGAYQIG TTANEDLEKQ GCHPFYESVI SNPFVAESEG TYDTYQHVPV 1500
    ESFAEVLLRT GKLAEAKNKG EVFPTTEVLL QLASEALPND MTLALAYLLA 1550
    LPQVLDANRC FEKQSPSALS LQLAAYYYSL QIYARLAPCF RDKCHPLYRA 1600
    DPKELIKMVT RHVTRHEHEA WPEDLISLTK QLHCYNERLL DFTQAQILQG 1650
    LRKGVDVQRF TADDQYKRET ILGLAETLEE SVYSIAISLA QRYSVSRWEV 1700
    FMTHLEFLFT DSGLSTLEIE NRAQDLHLFE TLKTDPEAFH QHMVKYIYPT 1750
    IGGFDHERLQ YYFTLLENCG CADLGNCAIK PETHIRLLKK FKVVASGLNY 1800
    KKLTDENMSP LEALEPVLSS QNILSISKLV PKIPEKDGQM LSPSSLYTIW 1850
    LQKLFWTGDP HLIKQVPGSS PEWLHAYDVC MKYFDRLHPG DLITVVDAVT 1900
    FSPKAVTKLS VEARKEMTRK AIKTVKHFIE KPRKRNSEDE AQEAKDSKVT 1950
    YADTLNHLEK SLAHLETLSH SFILSLKNSE QETLQKYSHL YDLSRSEKEK 2000
    LHDEAVAICL DGQPLAMIQQ LLEVAVGPLD ISPKDIVQSA IMKIISALSG 2050
    GSADLGGPRD PLKVLEGVVA AVHASVDKGE ELVSPEDLLE WLRPFCADDA 2100
    WPVRPRIHVL QILGQSFHLT EEDSKLLVFF RTEAILKASW PQRQVDIADI 2150
    ENEENRYCLF MELLESSHHE AEFQHLVLLL QAWPPMKSEY VITNNPWVRL 2200
    ATVMLTRCTM ENKEGLGNEV LKMCRSLYNT KQMLPAEGVK ELCLLLLNQS 2250
    LLLPSLKLLL ESRDEHLHEM ALEQITAVTT VNDSNCDQEL LSLLLDAKLL 2300
    VKCVSTPFYP RIVDHLLASL QQGRWDAEEL GRHLREAGHE AEAGSLLLAV 2350
    RGTHQAFRTF STALRAAQHW V 2371
    Length:2,371
    Mass (Da):268,571
    Last modified:March 3, 2009 - v2
    Checksum:i54500EFAA487FB94
    GO
    Isoform 2 (identifier: A2RRP1-2) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:2,251
    Mass (Da):254,816
    Checksum:iC253AF9620FDA14E
    GO

    Sequence cautioni

    The sequence AAD18133.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAB43382.1 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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti22 – 221I → T in AAM93544. (PubMed:12706883)Curated
    Sequence conflicti533 – 5331K → E in AAM93544. (PubMed:12706883)Curated
    Sequence conflicti745 – 7451F → L in AAM93544. (PubMed:12706883)Curated
    Sequence conflicti1102 – 11021M → T in AAM93544. (PubMed:12706883)Curated
    Sequence conflicti1229 – 12291K → E in AAD18133. (PubMed:9926938)Curated
    Sequence conflicti1277 – 12771E → G in AAM93544. (PubMed:12706883)Curated
    Sequence conflicti1784 – 17841H → Y in AAM93544. (PubMed:12706883)Curated
    Sequence conflicti1797 – 17971G → S in AAM93544. (PubMed:12706883)Curated
    Sequence conflicti1854 – 18541L → S in AAM93544. (PubMed:12706883)Curated
    Sequence conflicti1997 – 19971E → D in AAD18133. (PubMed:9926938)Curated
    Sequence conflicti2028 – 20281P → L in AAD18133. (PubMed:9926938)Curated
    Sequence conflicti2030 – 20301D → N in AAD18133. (PubMed:9926938)Curated
    Sequence conflicti2033 – 20331P → T in AAD18133. (PubMed:9926938)Curated
    Sequence conflicti2171 – 21711A → T in AAD18133. (PubMed:9926938)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441Q → E.1 Publication
    Corresponds to variant rs77081203 [ dbSNP | Ensembl ].
    VAR_068954
    Natural varianti243 – 2431I → V.1 Publication
    Corresponds to variant rs13029846 [ dbSNP | Ensembl ].
    VAR_057611
    Natural varianti655 – 6551K → R.2 Publications
    Corresponds to variant rs4668909 [ dbSNP | Ensembl ].
    VAR_057612
    Natural varianti949 – 9491V → L.1 Publication
    Corresponds to variant rs74727069 [ dbSNP | Ensembl ].
    VAR_068955
    Natural varianti1004 – 10041R → Q.
    Corresponds to variant rs16862653 [ dbSNP | Ensembl ].
    VAR_057613
    Natural varianti1009 – 10091C → S.1 Publication
    Corresponds to variant rs74411619 [ dbSNP | Ensembl ].
    VAR_068956
    Natural varianti1178 – 11781S → N.
    Corresponds to variant rs35770368 [ dbSNP | Ensembl ].
    VAR_057614
    Natural varianti1914 – 19141R → H in SOPH. 1 Publication
    VAR_068957
    Natural varianti2074 – 20741A → T.1 Publication
    Corresponds to variant rs6710817 [ dbSNP | Ensembl ].
    VAR_057615

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei860 – 979120Missing in isoform 2. 1 PublicationVSP_026445Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS1685.1. [A2RRP1-1]
    PIRiT13150.
    RefSeqiNP_056993.2. NM_015909.3. [A2RRP1-1]
    UniGeneiHs.467759.

    Genome annotation databases

    EnsembliENST00000281513; ENSP00000281513; ENSG00000151779. [A2RRP1-1]
    GeneIDi51594.
    KEGGihsa:51594.
    UCSCiuc002rcc.2. human. [A2RRP1-1]
    uc010exl.1. human. [A2RRP1-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS1685.1. [A2RRP1-1 ]
    PIRi T13150.
    RefSeqi NP_056993.2. NM_015909.3. [A2RRP1-1 ]
    UniGenei Hs.467759.

    3D structure databases

    ProteinModelPortali A2RRP1.
    SMRi A2RRP1. Positions 319-349.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119627. 2 interactions.
    DIPi DIP-56726N.
    IntActi A2RRP1. 3 interactions.
    MINTi MINT-4838513.
    STRINGi 9606.ENSP00000281513.

    PTM databases

    PhosphoSitei A2RRP1.

    Proteomic databases

    MaxQBi A2RRP1.
    PaxDbi A2RRP1.
    PeptideAtlasi A2RRP1.
    PRIDEi A2RRP1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000281513 ; ENSP00000281513 ; ENSG00000151779 . [A2RRP1-1 ]
    GeneIDi 51594.
    KEGGi hsa:51594.
    UCSCi uc002rcc.2. human. [A2RRP1-1 ]
    uc010exl.1. human. [A2RRP1-2 ]

    Organism-specific databases

    CTDi 51594.
    GeneCardsi GC02M015224.
    H-InvDB HIX0001840.
    HGNCi HGNC:15625. NBAS.
    HPAi HPA036817.
    MIMi 608025. gene.
    614800. phenotype.
    neXtProti NX_A2RRP1.
    Orphaneti 391677. Short stature-optic atrophy-Pelger-Huet anomaly syndrome.
    PharmGKBi PA164723457.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293605.
    HOGENOMi HOG000113737.
    InParanoidi A2RRP1.
    OMAi IDVNWWA.
    OrthoDBi EOG7C5M7C.
    PhylomeDBi A2RRP1.
    TreeFami TF313901.

    Miscellaneous databases

    ChiTaRSi NBAS. human.
    GenomeRNAii 51594.
    NextBioi 55444.
    PROi A2RRP1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A2RRP1.
    Bgeei A2RRP1.
    Genevestigatori A2RRP1.

    Family and domain databases

    Gene3Di 2.130.10.10. 3 hits.
    InterProi IPR029145. NBAS_N.
    IPR011044. Quino_amine_DH_bsu.
    IPR013244. Sec39.
    IPR015943. WD40/YVTN_repeat-like_dom.
    [Graphical view ]
    Pfami PF15492. Nbas_N. 1 hit.
    PF08314. Sec39. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50969. SSF50969. 2 hits.
    ProtoNeti Search...

    Publicationsi

    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. 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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      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. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    11. "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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "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.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNBAS_HUMAN
    AccessioniPrimary (citable) accession number: A2RRP1
    Secondary accession number(s): O95790
    , Q2VPJ7, Q53TK6, Q86V39, Q8NFY8, Q9Y3W5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 26, 2007
    Last sequence update: March 3, 2009
    Last modified: October 1, 2014
    This is version 68 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3