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Protein

Neuroblastoma-amplified sequence

Gene

NBAS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).Curated1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • SNARE binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neuroblastoma-amplified sequence
Alternative name(s):
Neuroblastoma-amplified gene protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NBAS
Synonyms:NAG
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000151779.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15625 NBAS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608025 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A2RRP1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:614800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0689571914R → H in SOPH. 1 PublicationCorresponds to variant dbSNP:rs369698072EnsemblClinVar.1
Infantile liver failure syndrome 2 (ILFS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis.
See also OMIM:616483
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074645187Missing in ILFS2. 1 Publication1
Natural variantiVAR_074646202Missing in ILFS2. 1 Publication1
Natural variantiVAR_074647348P → S in ILFS2. 1 Publication1
Natural variantiVAR_074649777P → H in ILFS2. 1 Publication1
Natural variantiVAR_074650842V → F in ILFS2. 1 PublicationCorresponds to variant dbSNP:rs1085307944Ensembl.1
Natural variantiVAR_074651903L → R in ILFS2. 1 PublicationCorresponds to variant dbSNP:rs368196005EnsemblClinVar.1
Natural variantiVAR_074652984I → S in ILFS2. 1 PublicationCorresponds to variant dbSNP:rs140841721Ensembl.1
Natural variantiVAR_0746531055L → P in ILFS2. 1 PublicationCorresponds to variant dbSNP:rs796052121EnsemblClinVar.1
NBAS mutations have been found in a multisystem disease affecting the liver, eye, immune system, connective tissue, and bone. Clinical manifestations include a progeroid appearance, short stature, slender bones, epiphyseal dysplasia with multiple phalangeal pseudo-epiphyses, cervical instability, myelopathy, elevated transaminases, hypogammaglobulinemia, reduced natural killer cells, Pelger-Huet anomaly of granulocytes, and in some cases retinal dystrophy and optic atrophy.1 Publication

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
51594

MalaCards human disease database

More...
MalaCardsi
NBAS
MIMi614800 phenotype
616483 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000151779

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
464724 Fever-associated acute infantile liver failure syndrome
391677 Short stature-optic atrophy-Pelger-Huet anomaly syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164723457

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NBAS

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002928061 – 2371Neuroblastoma-amplified sequenceAdd BLAST2371

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei473PhosphoserineCombined sources1
Modified residuei475PhosphoserineCombined sources1
Modified residuei1057N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
A2RRP1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
A2RRP1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
A2RRP1

PRoteomics IDEntifications database

More...
PRIDEi
A2RRP1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
478
479 [A2RRP1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
A2RRP1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
A2RRP1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000151779 Expressed in 226 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
A2RRP1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
A2RRP1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036817

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the NRZ complex composed of NBAS, ZW10 and RINT1/TIP20L; NRZ associates with SNAREs STX18, USE1L, BNIP1/SEC20L and SEC22B (the assembly has been described as syntaxin 18 complex); links NRZ to SNARE USE1L (PubMed:19369418).2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119627, 20 interactors

Database of interacting proteins

More...
DIPi
DIP-56726N

Protein interaction database and analysis system

More...
IntActi
A2RRP1, 14 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000281513

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
A2RRP1

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati130 – 169WD 1Add BLAST40
Repeati316 – 355WD 2Add BLAST40

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 1035Interaction with USE1L1 PublicationAdd BLAST1035
Regioni1036 – 2371Interaction with ZW10 and RINT12 PublicationsAdd BLAST1336

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1421 – 1425Poly-Thr5
Compositional biasi2242 – 2247Poly-Leu6

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1797 Eukaryota
ENOG410YJNG LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012474

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000113737

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
A2RRP1

KEGG Orthology (KO)

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KOi
K20473

Identification of Orthologs from Complete Genome Data

More...
OMAi
IDVNWWA

Database of Orthologous Groups

More...
OrthoDBi
EOG091G00Q2

Database for complete collections of gene phylogenies

More...
PhylomeDBi
A2RRP1

TreeFam database of animal gene trees

More...
TreeFami
TF313901

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029145 NBAS_N
IPR011044 Quino_amine_DH_bsu
IPR013244 Sec39_domain

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15492 Nbas_N, 1 hit
PF08314 Sec39, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50969 SSF50969, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MAAPESGPAL SPGTAEGEEE TILYDLLVNT EWPPETEVQP RGNQKHGASF
60 70 80 90 100
IITKAIRDRL LFLRQYIWYS PAPFLLPDGL VRLVNKQINW HLVLASNGKL
110 120 130 140 150
LAAVQDQCVE IRSAKDDFTS IIGKCQVPKD PKPQWRRVAW SYDCTLLAYA
160 170 180 190 200
ESTGTVRVFD LMGSELFVIS PASSFIGDLS YAIAGLIFLE YKASAQWSAE
210 220 230 240 250
LLVINYRGEL RSYLVSVGTN QSYQESHCFS FSSHYPHGIN TAIYHPGHRL
260 270 280 290 300
LLVGGCETAE VGMSKASSCG LSAWRVLSGS PYYKQVTNGG DGVTAVPKTL
310 320 330 340 350
GLLRMLSVKF YSRQGQEQDG IFKMSLSPDG MLLAAIHFSG KLSIWAIPSL
360 370 380 390 400
KQQGEWGQNE QPGYDDLNPD WRLSTEKRKK IKDKESFYPL IDVNWWADSA
410 420 430 440 450
VTLARCSGAL TVSSVKTLKN LLGKSCEWFE PSPQVTATHD GGFLSLECEI
460 470 480 490 500
KLAPKRSRLE TRAGEEDEGE EDSDSDYEIS AKARYFGYIK QGLYLVTEME
510 520 530 540 550
RFAPPRKRPR TITKNYRLVS LRSTTPEELY QRKIESEEYE EALSLAHTYG
560 570 580 590 600
LDTDLVYQRQ WRKSAVNVAS IQNYLSKIKK RSWVLHECLE RVPENVDAAK
610 620 630 640 650
ELLQYGLKGT DLEALLAIGK GADDGRFTLP GEIDIDSISY EELSPPDEEP
660 670 680 690 700
AKNKKEKELK KRQELLKLVN FSKLTLEQKE LCRCRRKLLT YLDRLATYEE
710 720 730 740 750
ILGVPHASEQ RYDAEFFKKF RNQNIVLSAR TYAQESNVQA LEILFTYHGS
760 770 780 790 800
DLLPHRLAIL SNFPETTSPH EYSVLLPEAC FNGDSLMIIP WHEHKHRAKD
810 820 830 840 850
WCEELACRMV VEPNLQDESE FLYAAQPELL RFRMTQLTVE KVMDWYQTRA
860 870 880 890 900
EEIEHYARQV DCALSLIRLG MERNIPGLLV LCDNLVTLET LVYEARCDVT
910 920 930 940 950
LTLKELQQMK DIEKLRLLMN SCSEDKYVTS AYQWMVPFLH RCEKQSPGVA
960 970 980 990 1000
NELLKEYLVT LAKGDLKFPL KIFQHSKPDL QQKIIPDQDQ LMAIALECIY
1010 1020 1030 1040 1050
TCERNDQLCL CYDLLECLPE RGYGDKTEAT TKLHDMVDQL EQILSVSELL
1060 1070 1080 1090 1100
EKHGLEKPIS FVKNTQSSSE EARKLMVRLT RHTGRKQPPV SESHWRTLLQ
1110 1120 1130 1140 1150
DMLTMQQNVY TCLDSDACYE IFTESLLCSS RLENIHLAGQ MMHCSACSEN
1160 1170 1180 1190 1200
PPAGIAHKGK PHYRVSYEKS IDLVLAASRE YFNSSTNLTD SCMDLARCCL
1210 1220 1230 1240 1250
QLITDRPPAI QEELDLIQAV GCLEEFGVKI LPLQVRLCPD RISLIKECIS
1260 1270 1280 1290 1300
QSPTCYKQST KLLGLAELLR VAGENPEERR GQVLILLVEQ ALRFHDYKAA
1310 1320 1330 1340 1350
SMHCQELMAT GYPKSWDVCS QLGQSEGYQD LATRQELMAF ALTHCPPSSI
1360 1370 1380 1390 1400
ELLLAASSSL QTEILYQRVN FQIHHEGGEN ISASPLTSKA VQEDEVGVPG
1410 1420 1430 1440 1450
SNSADLLRWT TATTMKVLSN TTTTTKAVLQ AVSDGQWWKK SLTYLRPLQG
1460 1470 1480 1490 1500
QKCGGAYQIG TTANEDLEKQ GCHPFYESVI SNPFVAESEG TYDTYQHVPV
1510 1520 1530 1540 1550
ESFAEVLLRT GKLAEAKNKG EVFPTTEVLL QLASEALPND MTLALAYLLA
1560 1570 1580 1590 1600
LPQVLDANRC FEKQSPSALS LQLAAYYYSL QIYARLAPCF RDKCHPLYRA
1610 1620 1630 1640 1650
DPKELIKMVT RHVTRHEHEA WPEDLISLTK QLHCYNERLL DFTQAQILQG
1660 1670 1680 1690 1700
LRKGVDVQRF TADDQYKRET ILGLAETLEE SVYSIAISLA QRYSVSRWEV
1710 1720 1730 1740 1750
FMTHLEFLFT DSGLSTLEIE NRAQDLHLFE TLKTDPEAFH QHMVKYIYPT
1760 1770 1780 1790 1800
IGGFDHERLQ YYFTLLENCG CADLGNCAIK PETHIRLLKK FKVVASGLNY
1810 1820 1830 1840 1850
KKLTDENMSP LEALEPVLSS QNILSISKLV PKIPEKDGQM LSPSSLYTIW
1860 1870 1880 1890 1900
LQKLFWTGDP HLIKQVPGSS PEWLHAYDVC MKYFDRLHPG DLITVVDAVT
1910 1920 1930 1940 1950
FSPKAVTKLS VEARKEMTRK AIKTVKHFIE KPRKRNSEDE AQEAKDSKVT
1960 1970 1980 1990 2000
YADTLNHLEK SLAHLETLSH SFILSLKNSE QETLQKYSHL YDLSRSEKEK
2010 2020 2030 2040 2050
LHDEAVAICL DGQPLAMIQQ LLEVAVGPLD ISPKDIVQSA IMKIISALSG
2060 2070 2080 2090 2100
GSADLGGPRD PLKVLEGVVA AVHASVDKGE ELVSPEDLLE WLRPFCADDA
2110 2120 2130 2140 2150
WPVRPRIHVL QILGQSFHLT EEDSKLLVFF RTEAILKASW PQRQVDIADI
2160 2170 2180 2190 2200
ENEENRYCLF MELLESSHHE AEFQHLVLLL QAWPPMKSEY VITNNPWVRL
2210 2220 2230 2240 2250
ATVMLTRCTM ENKEGLGNEV LKMCRSLYNT KQMLPAEGVK ELCLLLLNQS
2260 2270 2280 2290 2300
LLLPSLKLLL ESRDEHLHEM ALEQITAVTT VNDSNCDQEL LSLLLDAKLL
2310 2320 2330 2340 2350
VKCVSTPFYP RIVDHLLASL QQGRWDAEEL GRHLREAGHE AEAGSLLLAV
2360 2370
RGTHQAFRTF STALRAAQHW V
Length:2,371
Mass (Da):268,571
Last modified:March 3, 2009 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZU5H7BZU5_HUMAN
Neuroblastoma-amplified sequence
NBAS
204Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JCM7C9JCM7_HUMAN
Neuroblastoma-amplified sequence
NBAS
281Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y5G7H0Y5G7_HUMAN
Neuroblastoma-amplified sequence
NBAS
1,419Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1U4H7C1U4_HUMAN
Neuroblastoma-amplified sequence
NBAS
100Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZR3H7BZR3_HUMAN
Neuroblastoma-amplified sequence
NBAS
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1Y9H7C1Y9_HUMAN
Neuroblastoma-amplified sequence
NBAS
137Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C007H7C007_HUMAN
Neuroblastoma-amplified sequence
NBAS
171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD18133 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAD18133 differs from that shown. Reason: Erroneous termination at position 2372. Translated as stop.Curated
The sequence CAB43382 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti22I → T in AAM93544 (PubMed:12706883).Curated1
Sequence conflicti533K → E in AAM93544 (PubMed:12706883).Curated1
Sequence conflicti745F → L in AAM93544 (PubMed:12706883).Curated1
Sequence conflicti1102M → T in AAM93544 (PubMed:12706883).Curated1
Sequence conflicti1229K → E in AAD18133 (PubMed:9926938).Curated1
Sequence conflicti1277E → G in AAM93544 (PubMed:12706883).Curated1
Sequence conflicti1784H → Y in AAM93544 (PubMed:12706883).Curated1
Sequence conflicti1797G → S in AAM93544 (PubMed:12706883).Curated1
Sequence conflicti1854L → S in AAM93544 (PubMed:12706883).Curated1
Sequence conflicti1997E → D in AAD18133 (PubMed:9926938).Curated1
Sequence conflicti2028P → L in AAD18133 (PubMed:9926938).Curated1
Sequence conflicti2030D → N in AAD18133 (PubMed:9926938).Curated1
Sequence conflicti2033P → T in AAD18133 (PubMed:9926938).Curated1
Sequence conflicti2171A → T in AAD18133 (PubMed:9926938).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06895444Q → E1 PublicationCorresponds to variant dbSNP:rs77081203Ensembl.1
Natural variantiVAR_07464395A → V Probable disease-associated mutation found in patients with a multisystem disease involving liver, eye, immune system, connective tissue and bone. 1 Publication1
Natural variantiVAR_074644137R → W Probable disease-associated mutation found in patients with a multisystem disease involving liver, eye, immune system, connective tissue and bone. 1 PublicationCorresponds to variant dbSNP:rs368085185EnsemblClinVar.1
Natural variantiVAR_074645187Missing in ILFS2. 1 Publication1
Natural variantiVAR_074646202Missing in ILFS2. 1 Publication1
Natural variantiVAR_057611243I → V1 PublicationCorresponds to variant dbSNP:rs13029846Ensembl.1
Natural variantiVAR_074647348P → S in ILFS2. 1 Publication1
Natural variantiVAR_074648396W → R Probable disease-associated mutation found in patients with a multisystem disease involving liver, eye, immune system, connective tissue and bone. 1 Publication1
Natural variantiVAR_057612655K → R2 PublicationsCorresponds to variant dbSNP:rs4668909Ensembl.1
Natural variantiVAR_074649777P → H in ILFS2. 1 Publication1
Natural variantiVAR_074650842V → F in ILFS2. 1 PublicationCorresponds to variant dbSNP:rs1085307944Ensembl.1
Natural variantiVAR_074651903L → R in ILFS2. 1 PublicationCorresponds to variant dbSNP:rs368196005EnsemblClinVar.1
Natural variantiVAR_068955949V → L1 PublicationCorresponds to variant dbSNP:rs74727069Ensembl.1
Natural variantiVAR_074652984I → S in ILFS2. 1 PublicationCorresponds to variant dbSNP:rs140841721Ensembl.1
Natural variantiVAR_0576131004R → Q. Corresponds to variant dbSNP:rs16862653Ensembl.1
Natural variantiVAR_0689561009C → S1 PublicationCorresponds to variant dbSNP:rs74411619Ensembl.1
Natural variantiVAR_0746531055L → P in ILFS2. 1 PublicationCorresponds to variant dbSNP:rs796052121EnsemblClinVar.1
Natural variantiVAR_0576141178S → N. Corresponds to variant dbSNP:rs35770368Ensembl.1
Natural variantiVAR_0689571914R → H in SOPH. 1 PublicationCorresponds to variant dbSNP:rs369698072EnsemblClinVar.1
Natural variantiVAR_0576152074A → T1 PublicationCorresponds to variant dbSNP:rs6710817Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_026445860 – 979Missing in isoform 2. 1 PublicationAdd BLAST120

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1685.1 [A2RRP1-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T13150

NCBI Reference Sequences

More...
RefSeqi
NP_056993.2, NM_015909.3 [A2RRP1-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.467759

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000281513; ENSP00000281513; ENSG00000151779 [A2RRP1-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51594

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51594

UCSC genome browser

More...
UCSCi
uc002rcc.3 human [A2RRP1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliA2RRP1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119627, 20 interactors
DIPiDIP-56726N
IntActiA2RRP1, 14 interactors
STRINGi9606.ENSP00000281513

PTM databases

iPTMnetiA2RRP1
PhosphoSitePlusiA2RRP1

Polymorphism and mutation databases

BioMutaiNBAS

Proteomic databases

EPDiA2RRP1
MaxQBiA2RRP1
PaxDbiA2RRP1
PRIDEiA2RRP1
ProteomicsDBi478
479 [A2RRP1-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281513; ENSP00000281513; ENSG00000151779 [A2RRP1-1]
GeneIDi51594
KEGGihsa:51594
UCSCiuc002rcc.3 human [A2RRP1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51594
DisGeNETi51594
EuPathDBiHostDB:ENSG00000151779.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NBAS

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0001840
HGNCiHGNC:15625 NBAS
HPAiHPA036817
MalaCardsiNBAS
MIMi608025 gene
614800 phenotype
616483 phenotype
neXtProtiNX_A2RRP1
OpenTargetsiENSG00000151779
Orphaneti464724 Fever-associated acute infantile liver failure syndrome
391677 Short stature-optic atrophy-Pelger-Huet anomaly syndrome
PharmGKBiPA164723457

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1797 Eukaryota
ENOG410YJNG LUCA
GeneTreeiENSGT00390000012474
HOGENOMiHOG000113737
InParanoidiA2RRP1
KOiK20473
OMAiIDVNWWA
OrthoDBiEOG091G00Q2
PhylomeDBiA2RRP1
TreeFamiTF313901

Enzyme and pathway databases

ReactomeiR-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NBAS human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
51594

Protein Ontology

More...
PROi
PR:A2RRP1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000151779 Expressed in 226 organ(s), highest expression level in corpus callosum
ExpressionAtlasiA2RRP1 baseline and differential
GenevisibleiA2RRP1 HS

Family and domain databases

InterProiView protein in InterPro
IPR029145 NBAS_N
IPR011044 Quino_amine_DH_bsu
IPR013244 Sec39_domain
PfamiView protein in Pfam
PF15492 Nbas_N, 1 hit
PF08314 Sec39, 2 hits
SUPFAMiSSF50969 SSF50969, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNBAS_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: A2RRP1
Secondary accession number(s): O95790
, Q2VPJ7, Q53TK6, Q86V39, Q8NFY8, Q9Y3W5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: March 3, 2009
Last modified: December 5, 2018
This is version 103 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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