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Entry version 179 (07 Oct 2020)
Sequence version 3 (18 May 2010)
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Protein

Neurobeachin

Gene

NBEA

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

Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).By similarity

<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

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8NFP9

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-112314, Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-163615, PKA activation
R-HSA-2122947, NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8NFP9

<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%5Fand%5Ftaxonomy%5Fsection">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:
Neurobeachin
Alternative name(s):
Lysosomal-trafficking regulator 2
Protein BCL8B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:NBEA
Synonyms:BCL8B, KIAA1544, LYST2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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: Unplaced

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000172915.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7648, NBEA

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604889, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NFP9

<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 & Seán O’Donoghue; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Cytoplasm, 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

Organism-specific databases

DisGeNET

More...
DisGeNETi
26960

Open Targets

More...
OpenTargetsi
ENSG00000172915

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31454

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NFP9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NBEA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439289

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000510891 – 2946NeurobeachinAdd BLAST2946

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 residuei1011PhosphoserineBy similarity1
Modified residuei1014PhosphoserineBy similarity1
Modified residuei1529PhosphoserineBy similarity1
Modified residuei1714PhosphoserineBy similarity1
Modified residuei1717PhosphoserineBy similarity1
Modified residuei2138PhosphoserineBy similarity1
Modified residuei2575PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NFP9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NFP9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8NFP9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8NFP9

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

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PaxDbi
Q8NFP9

PeptideAtlas

More...
PeptideAtlasi
Q8NFP9

PRoteomics IDEntifications database

More...
PRIDEi
Q8NFP9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
6440
73333 [Q8NFP9-1]
73334 [Q8NFP9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NFP9

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

More...
PhosphoSitePlusi
Q8NFP9

<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

Predominant in many brain structures. Also expressed at medium levels in spleen, thymus, prostate, testis and ovary. Low level expression is seen in heart, kidney, pancreas, skeletal muscle and intestine.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000172915, Expressed in neocortex and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NFP9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NFP9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000172915, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RII subunit of PKA.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
117928, 23 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NFP9, 21 interactors

Molecular INTeraction database

More...
MINTi
Q8NFP9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000383295

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NFP9, protein

<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

Secondary structure

12946
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8NFP9

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8NFP9

<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>Repeati1326 – 1368WD 1CuratedAdd BLAST43
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini2147 – 2255BEACH-type PHPROSITE-ProRule annotationAdd BLAST109
Domaini2274 – 2563BEACHPROSITE-ProRule annotationCuratedAdd BLAST290
Repeati2718 – 2761WD 2CuratedAdd BLAST44
Repeati2778 – 2818WD 3CuratedAdd BLAST41
Repeati2860 – 2899WD 4CuratedAdd BLAST40
Repeati2902 – 2941WD 5CuratedAdd BLAST40

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the WD repeat neurobeachin family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1787, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154934

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NFP9

KEGG Orthology (KO)

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KOi
K24183

Database of Orthologous Groups

More...
OrthoDBi
101142at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NFP9

TreeFam database of animal gene trees

More...
TreeFami
TF313490

Family and domain databases

Conserved Domains Database

More...
CDDi
cd06071, Beach, 1 hit
cd01201, PH_BEACH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.1540.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016024, ARM-type_fold
IPR000409, BEACH_dom
IPR036372, BEACH_dom_sf
IPR013320, ConA-like_dom_sf
IPR010508, DUF1088
IPR031570, DUF4704
IPR023362, PH-BEACH_dom
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02138, Beach, 1 hit
PF06469, DUF1088, 1 hit
PF15787, DUF4704, 1 hit
PF14844, PH_BEACH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01026, Beach, 1 hit
SM00320, WD40, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371, SSF48371, 1 hit
SSF49899, SSF49899, 1 hit
SSF50978, SSF50978, 1 hit
SSF81837, SSF81837, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50197, BEACH, 1 hit
PS51783, PH_BEACH, 1 hit
PS50294, WD_REPEATS_REGION, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1Curated (identifier: Q8NFP9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MASEKPGPGP GLEPQPVGLI AVGAAGGGGG GSGGGGTGGS GMGELRGASG
60 70 80 90 100
SGSVMLPAGM INPSVPIRNI RMKFAVLIGL IQVGEVSNRD IVETVLNLLV
110 120 130 140 150
GGEFDLEMNF IIQDAESITC MTELLEHCDV TCQAEIWSMF TAILRKSVRN
160 170 180 190 200
LQTSTEVGLI EQVLLKMSAV DDMIADLLVD MLGVLASYSI TVKELKLLFS
210 220 230 240 250
MLRGESGIWP RHAVKLLSVL NQMPQRHGPD TFFNFPGCSA AAIALPPIAK
260 270 280 290 300
WPYQNGFTLN TWFRMDPLNN INVDKDKPYL YCFRTSKGVG YSAHFVGNCL
310 320 330 340 350
IVTSLKSKGK GFQHCVKYDF QPRKWYMISI VHIYNRWRNS EIRCYVNGQL
360 370 380 390 400
VSYGDMAWHV NTNDSYDKCF LGSSETADAN RVFCGQLGAV YVFSEALNPA
410 420 430 440 450
QIFAIHQLGP GYKSTFKFKS ESDIHLAEHH KQVLYDGKLA SSIAFTYNAK
460 470 480 490 500
ATDAQLCLES SPKENASIFV HSPHALMLQD VKAIVTHSIH SAIHSIGGIQ
510 520 530 540 550
VLFPLFAQLD NRQLNDSQVE TTVCATLLAF LVELLKSSVA MQEQMLGGKG
560 570 580 590 600
FLVIGYLLEK SSRVHITRAV LEQFLSFAKY LDGLSHGAPL LKQLCDHILF
610 620 630 640 650
NPAIWIHTPA KVQLSLYTYL SAEFIGTATI YTTIRRVGTV LQLMHTLKYY
660 670 680 690 700
YWVINPADSS GITPKGLDGP RPSQKEIISL RAFMLLFLKQ LILKDRGVKE
710 720 730 740 750
DELQSILNYL LTMHEDENIH DVLQLLVALM SEHPASMIPA FDQRNGIRVI
760 770 780 790 800
YKLLASKSES IWVQALKVLG YFLKHLGHKR KVEIMHTHSL FTLLGERLML
810 820 830 840 850
HTNTVTVTTY NTLYEILTEQ VCTQVVHKPH PEPDSTVKIQ NPMILKVVAT
860 870 880 890 900
LLKNSTPSAE LMEVRRLFLS DMIKLFSNSR ENRRCLLQCS VWQDWMFSLG
910 920 930 940 950
YINPKNSEEQ KITEMVYNIF RILLYHAIKY EWGGWRVWVD TLSIAHSKVT
960 970 980 990 1000
YEAHKEYLAK MYEEYQRQEE ENIKKGKKGN VSTISGLSSQ TTGAKGGMEI
1010 1020 1030 1040 1050
REIEDLSQSQ SPESETDYPV STDTRDLLMS TKVSDDILGN SDRPGSGVHV
1060 1070 1080 1090 1100
EVHDLLVDIK AEKVEATEVK LDDMDLSPET LVGGENGALV EVESLLDNVY
1110 1120 1130 1140 1150
SAAVEKLQNN VHGSVGIIKK NEEKDNGPLI TLADEKEDLP NSSTSFLFDK
1160 1170 1180 1190 1200
IPKQEEKLLP ELSSNHIIPN IQDTQVHLGV SDDLGLLAHM TGSVDLTCTS
1210 1220 1230 1240 1250
SIIEEKEFKI HTTSDGMSSI SERDLASSTK GLEYAEMTAT TLETESSSSK
1260 1270 1280 1290 1300
IVPNIDAGSI ISDTERSDDG KESGKEIRKI QTTTTTQAVQ GRSITQQDRD
1310 1320 1330 1340 1350
LRVDLGFRGM PMTEEQRRQF SPGPRTTMFR IPEFKWSPMH QRLLTDLLFA
1360 1370 1380 1390 1400
LETDVHVWRS HSTKSVMDFV NSNENIIFVH NTIHLISQMV DNIIIACGGI
1410 1420 1430 1440 1450
LPLLSAATSP TGSKTELENI EVTQGMSAET AVTFLSRLMA MVDVLVFASS
1460 1470 1480 1490 1500
LNFSEIEAEK NMSSGGLMRQ CLRLVCCVAV RNCLECRQRQ RDRGNKSSHG
1510 1520 1530 1540 1550
SSKPQEVPQS VTATAASKTP LENVPGNLSP IKDPDRLLQD VDINRLRAVV
1560 1570 1580 1590 1600
FRDVDDSKQA QFLALAVVYF ISVLMVSKYR DILEPQRETT RTGSQPGRNI
1610 1620 1630 1640 1650
RQEINSPTST VVVIPSIPHP SLNHGFLAKL IPEQSFGHSF YKETPAAFPD
1660 1670 1680 1690 1700
TIKEKETPTP GEDIQVESSI PHTDSGIGEE QVASILNGAE LETSTGPDAM
1710 1720 1730 1740 1750
SELLSTLSSE VKKSQESLTE NPSETLKPAT SISSISQTKG INVKEILKSL
1760 1770 1780 1790 1800
VAAPVEIAEC GPEPIPYPDP ALKRETQAIL PMQFHSFDRS VVVPVKKPPP
1810 1820 1830 1840 1850
GSLAVTTVGA TTAGSGLPTG STSNIFAATG ATPKSMINTT GAVDSGSSSS
1860 1870 1880 1890 1900
SSSSSFVNGA TSKNLPAVQT VAPMPEDSAE NMSITAKLER ALEKVAPLLR
1910 1920 1930 1940 1950
EIFVDFAPFL SRTLLGSHGQ ELLIEGLVCM KSSTSVVELV MLLCSQEWQN
1960 1970 1980 1990 2000
SIQKNAGLAF IELINEGRLL CHAMKDHIVR VANEAEFILN RQRAEDVHKH
2010 2020 2030 2040 2050
AEFESQCAQY AADRREEEKM CDHLISAAKH RDHVTANQLK QKILNILTNK
2060 2070 2080 2090 2100
HGAWGAVSHS QLHDFWRLDY WEDDLRRRRR FVRNAFGSTH AEALLKAAIE
2110 2120 2130 2140 2150
YGTEEDVVKS KKTFRSQAIV NQNAETELML EGDDDAVSLL QEKEIDNLAG
2160 2170 2180 2190 2200
PVVLSTPAQL IAPVVVAKGT LSITTTEIYF EVDEDDSAFK KIDTKVLAYT
2210 2220 2230 2240 2250
EGLHGKWMFS EIRAVFSRRY LLQNTALEVF MANRTSVMFN FPDQATVKKV
2260 2270 2280 2290 2300
VYSLPRVGVG TSYGLPQARR ISLATPRQLY KSSNMTQRWQ RREISNFEYL
2310 2320 2330 2340 2350
MFLNTIAGRT YNDLNQYPVF PWVLTNYESE ELDLTLPGNF RDLSKPIGAL
2360 2370 2380 2390 2400
NPKRAVFYAE RYETWEDDQS PPYHYNTHYS TATSTLSWLV RIEPFTTFFL
2410 2420 2430 2440 2450
NANDGKFDHP DRTFSSVARS WRTSQRDTSD VKELIPEFYY LPEMFVNSNG
2460 2470 2480 2490 2500
YNLGVREDEV VVNDVDLPPW AKKPEDFVRI NRMALESEFV SCQLHQWIDL
2510 2520 2530 2540 2550
IFGYKQRGPE AVRALNVFHY LTYEGSVNLD SITDPVLREA MEAQIQNFGQ
2560 2570 2580 2590 2600
TPSQLLIEPH PPRSSAMHLC FLPQSPLMFK DQMQQDVIMV LKFPSNSPVT
2610 2620 2630 2640 2650
HVAANTLPHL TIPAVVTVTC SRLFAVNRWH NTVGLRGAPG YSLDQAHHLP
2660 2670 2680 2690 2700
IEMDPLIANN SGVNKRQITD LVDQSIQINA HCFVVTADNR YILICGFWDK
2710 2720 2730 2740 2750
SFRVYSTETG KLTQIVFGHW DVVTCLARSE SYIGGDCYIV SGSRDATLLL
2760 2770 2780 2790 2800
WYWSGRHHII GDNPNSSDYP APRAVLTGHD HEVVCVSVCA ELGLVISGAK
2810 2820 2830 2840 2850
EGPCLVHTIT GDLLRALEGP ENCLFPRLIS VSSEGHCIIY YERGRFSNFS
2860 2870 2880 2890 2900
INGKLLAQME INDSTRAILL SSDGQNLVTG GDNGVVEVWQ ACDFKQLYIY
2910 2920 2930 2940
PGCDAGIRAM DLSHDQRTLI TGMASGSIVA FNIDFNRWHY EHQNRY
Length:2,946
Mass (Da):327,822
Last modified:May 18, 2010 - v3
<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:i2E371FDA2F00781E
GO
Isoform 2Curated (identifier: Q8NFP9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2443: Missing.
     2539-2539: E → EIPEAYFIRDPHTFLLTKDFIK

Show »
Length:524
Mass (Da):58,802
Checksum:iF4A38C3EFE58D390
GO
Isoform 3 (identifier: Q8NFP9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2207: Missing.

Show »
Length:739
Mass (Da):84,001
Checksum:i38BA7126B5FFBBE7
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T321Q5T321_HUMAN
Neurobeachin
NBEA hCG_2019985
2,943Annotation 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>
F5GXV7F5GXV7_HUMAN
Neurobeachin
NBEA
2,947Annotation 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>
A0A0D9SF28A0A0D9SF28_HUMAN
Neurobeachin
NBEA
2,946Annotation 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 AAD41633 differs from that shown. Reason: Frameshift.Curated
The sequence BAA91485 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.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 conflicti1658P → S in AAM53531 (PubMed:12160729).Curated1
Sequence conflicti2564S → N in AAD41633 (Ref. 6) Curated1
Sequence conflicti2706S → T in AAD41633 (Ref. 6) Curated1

Natural variant

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_047658569A → P. Corresponds to variant dbSNP:rs5011295Ensembl.1
Natural variantiVAR_0476592501I → V. Corresponds to variant dbSNP:rs11538677Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0505381 – 2443Missing in isoform 2. 1 PublicationAdd BLAST2443
Alternative sequenceiVSP_0463971 – 2207Missing in isoform 3. 1 PublicationAdd BLAST2207
Alternative sequenceiVSP_0505392539E → EIPEAYFIRDPHTFLLTKDF IK in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF467288 mRNA Translation: AAM53531.1
AL138690 Genomic DNA No translation available.
AK001059 mRNA Translation: BAA91485.1 Sequence problems.
AK294737 mRNA Translation: BAH11865.1
AL139083, AL390071 Genomic DNA Translation: CAH71883.1
AL159160 Genomic DNA No translation available.
AL161718 Genomic DNA No translation available.
AL161902 Genomic DNA No translation available.
AL356430 Genomic DNA No translation available.
AL357083 Genomic DNA No translation available.
AL390071, AL139083 Genomic DNA Translation: CAI17183.1
AB046764 mRNA Translation: BAB13370.1
AL137748 mRNA Translation: CAB70903.2
AF072371 mRNA Translation: AAD41633.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45026.1 [Q8NFP9-1]
CCDS55894.1 [Q8NFP9-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
T46310

NCBI Reference Sequences

More...
RefSeqi
NP_001191126.1, NM_001204197.1 [Q8NFP9-3]
NP_056493.3, NM_015678.4 [Q8NFP9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379922; ENSP00000369254; ENSG00000172915 [Q8NFP9-2]
ENST00000400445; ENSP00000383295; ENSG00000172915 [Q8NFP9-1]
ENST00000537702; ENSP00000440233; ENSG00000172915 [Q8NFP9-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
26960

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26960

UCSC genome browser

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UCSCi
uc058wka.1, human [Q8NFP9-1]

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
AF467288 mRNA Translation: AAM53531.1
AL138690 Genomic DNA No translation available.
AK001059 mRNA Translation: BAA91485.1 Sequence problems.
AK294737 mRNA Translation: BAH11865.1
AL139083, AL390071 Genomic DNA Translation: CAH71883.1
AL159160 Genomic DNA No translation available.
AL161718 Genomic DNA No translation available.
AL161902 Genomic DNA No translation available.
AL356430 Genomic DNA No translation available.
AL357083 Genomic DNA No translation available.
AL390071, AL139083 Genomic DNA Translation: CAI17183.1
AB046764 mRNA Translation: BAB13370.1
AL137748 mRNA Translation: CAB70903.2
AF072371 mRNA Translation: AAD41633.1 Frameshift.
CCDSiCCDS45026.1 [Q8NFP9-1]
CCDS55894.1 [Q8NFP9-3]
PIRiT46310
RefSeqiNP_001191126.1, NM_001204197.1 [Q8NFP9-3]
NP_056493.3, NM_015678.4 [Q8NFP9-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1MI1X-ray2.90A/B2150-2563[»]
SMRiQ8NFP9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117928, 23 interactors
IntActiQ8NFP9, 21 interactors
MINTiQ8NFP9
STRINGi9606.ENSP00000383295

PTM databases

iPTMnetiQ8NFP9
PhosphoSitePlusiQ8NFP9

Polymorphism and mutation databases

BioMutaiNBEA
DMDMi296439289

Proteomic databases

EPDiQ8NFP9
jPOSTiQ8NFP9
MassIVEiQ8NFP9
MaxQBiQ8NFP9
PaxDbiQ8NFP9
PeptideAtlasiQ8NFP9
PRIDEiQ8NFP9
ProteomicsDBi6440
73333 [Q8NFP9-1]
73334 [Q8NFP9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
22966, 69 antibodies

Genome annotation databases

EnsembliENST00000379922; ENSP00000369254; ENSG00000172915 [Q8NFP9-2]
ENST00000400445; ENSP00000383295; ENSG00000172915 [Q8NFP9-1]
ENST00000537702; ENSP00000440233; ENSG00000172915 [Q8NFP9-3]
GeneIDi26960
KEGGihsa:26960
UCSCiuc058wka.1, human [Q8NFP9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26960
DisGeNETi26960
EuPathDBiHostDB:ENSG00000172915.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NBEA
HGNCiHGNC:7648, NBEA
HPAiENSG00000172915, Low tissue specificity
MIMi604889, gene
neXtProtiNX_Q8NFP9
OpenTargetsiENSG00000172915
PharmGKBiPA31454

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1787, Eukaryota
GeneTreeiENSGT00940000154934
InParanoidiQ8NFP9
KOiK24183
OrthoDBi101142at2759
PhylomeDBiQ8NFP9
TreeFamiTF313490

Enzyme and pathway databases

PathwayCommonsiQ8NFP9
ReactomeiR-HSA-112314, Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-163615, PKA activation
R-HSA-2122947, NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors
SignaLinkiQ8NFP9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
26960, 3 hits in 871 CRISPR screens

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

More...
ChiTaRSi
NBEA, human
EvolutionaryTraceiQ8NFP9

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

More...
GenomeRNAii
26960
PharosiQ8NFP9, Tbio

Protein Ontology

More...
PROi
PR:Q8NFP9
RNActiQ8NFP9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000172915, Expressed in neocortex and 221 other tissues
ExpressionAtlasiQ8NFP9, baseline and differential
GenevisibleiQ8NFP9, HS

Family and domain databases

CDDicd06071, Beach, 1 hit
cd01201, PH_BEACH, 1 hit
Gene3Di1.10.1540.10, 1 hit
InterProiView protein in InterPro
IPR016024, ARM-type_fold
IPR000409, BEACH_dom
IPR036372, BEACH_dom_sf
IPR013320, ConA-like_dom_sf
IPR010508, DUF1088
IPR031570, DUF4704
IPR023362, PH-BEACH_dom
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf
PfamiView protein in Pfam
PF02138, Beach, 1 hit
PF06469, DUF1088, 1 hit
PF15787, DUF4704, 1 hit
PF14844, PH_BEACH, 1 hit
SMARTiView protein in SMART
SM01026, Beach, 1 hit
SM00320, WD40, 5 hits
SUPFAMiSSF48371, SSF48371, 1 hit
SSF49899, SSF49899, 1 hit
SSF50978, SSF50978, 1 hit
SSF81837, SSF81837, 1 hit
PROSITEiView protein in PROSITE
PS50197, BEACH, 1 hit
PS51783, PH_BEACH, 1 hit
PS50294, WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiNBEA_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: Q8NFP9
Secondary accession number(s): B7Z2H9
, Q5T320, Q9HCM8, Q9NSU1, Q9NW98, Q9Y6J1
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: May 18, 2010
Last modified: October 7, 2020
This is version 179 of the entry and version 3 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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