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Entry version 135 (13 Feb 2019)
Sequence version 3 (15 Jun 2010)
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Protein

Neurobeachin-like protein 1

Gene

NBEAL1

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

Annotation score:3 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 transcript 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

Enzyme and pathway databases

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

More...
SignaLinki
Q6ZS30

<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:
Neurobeachin-like protein 1
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 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:NBEAL1
Synonyms:ALS2CR16, ALS2CR17
<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:ENSG00000144426.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20681 NBEAL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609816 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZS30

<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
65065

Open Targets

More...
OpenTargetsi
ENSG00000144426

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24740

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NBEAL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
298286908

<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_00000510941 – 2694Neurobeachin-like protein 1Add BLAST2694

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6ZS30

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6ZS30

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

More...
PaxDbi
Q6ZS30

PeptideAtlas

More...
PeptideAtlasi
Q6ZS30

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZS30

ProteomicsDB human proteome resource

More...
ProteomicsDBi
68187
68188 [Q6ZS30-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZS30

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

More...
PhosphoSitePlusi
Q6ZS30

<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

Highly expressed in brain, kidney, prostate and testis. Weakly expressed in ovary, small intestine, colon and peripheral blood leukocytes. May be correlative to several tumors, such as ovary serous adenocarcinoma and metastasis mammary gland carcinoma breast.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000144426 Expressed in 190 organ(s), highest expression level in stomach

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6ZS30 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ZS30 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049189
HPA049447

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122383, 13 interactors

Protein interaction database and analysis system

More...
IntActi
Q6ZS30, 15 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000399903

<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
Q6ZS30

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

More...
SMRi
Q6ZS30

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 <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini1883 – 1980BEACH-type PHPROSITE-ProRule annotationAdd BLAST98
Domaini1992 – 2284BEACHPROSITE-ProRule annotationAdd BLAST293
<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>Repeati2439 – 2478WD 1Add BLAST40
Repeati2490 – 2531WD 2Add BLAST42

<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

<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 - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1787 Eukaryota
ENOG410XNQC LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155041

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZS30

Identification of Orthologs from Complete Genome Data

More...
OMAi
CYEAFMV

Database of Orthologous Groups

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OrthoDBi
101142at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6ZS30

TreeFam database of animal gene trees

More...
TreeFami
TF323165

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
2.130.10.10, 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
IPR031570 DUF4704
IPR023362 PH-BEACH_dom
IPR015943 WD40/YVTN_repeat-like_dom_sf
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
PF15787 DUF4704, 1 hit
PF14844 PH_BEACH, 1 hit
PF00400 WD40, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 3 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
PS50082 WD_REPEATS_2, 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_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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q6ZS30-2) [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
MASRERLFEL WMLYCTKKDP DYLKLWLDTF VSSYEQFLDV DFEKLPTRVD
60 70 80 90 100
DMPPGISLLP DNILQVLRIQ LLQCVQKMAD GLEEQQQALS ILLVKFFIIL
110 120 130 140 150
CRNLSNVEEI GTCSYINYVI TMTTLYIQQL KSKKKEKEMA DQTCIEEFVI
160 170 180 190 200
HALAFCESLY DPYRNWRHRI SGRILSTVEK SRQKYKPASL TVEFVPFFYQ
210 220 230 240 250
CFQESEHLKE SLKCCLLHLF GAIVAGGQRN ALQAISPATM EVLMRVLADC
260 270 280 290 300
DSWEDGDPEE VGRKAELTLK CLTEVVHILL SSNSDQRQVE TSTILENYFK
310 320 330 340 350
LLNSDHSALP NQRRSRQWEN RFIALQIKML NTITAMLDCT DRPVLQAIFL
360 370 380 390 400
NSNCFEHLIR LLQNCKVFQG QLDCLAISTI QALTAVMNKS PAAKEVFKER
410 420 430 440 450
IGYTHMLEVL KSLGQPPLEL LKELMNMAVE GDHTSVGILG ISNVQPLLLL
460 470 480 490 500
IQWLPELQSH DLQIFISDWL KRICCINRQS RTTCVNANMG IRIIETLDLH
510 520 530 540 550
SSLHQTCAEN LIAIHGSLGS QSVSSEEIRR LLRLLRVDES ESVHPYVTPV
560 570 580 590 600
TRAILTMARK LSLESALQYF NLSHSMAGIS VPPIQKWPGS AFSFSAWFCL
610 620 630 640 650
DQDQLTLGIA NKGGKRKQLY SFFTGSGMGF EAFITHSGML VVAVCTKREY
660 670 680 690 700
ATVMLPDHSF CDSLWHNITV VHMPGKRPFG QSFVYIYDNG QQKVSAPLRF
710 720 730 740 750
PAMNEPFTSC CIGSAGQRTT TPPPSQIPDP PFSSPITPHR TSFGGILSSA
760 770 780 790 800
SWGGTIEKSK LITKLISAGT QDSEWGCPTS LEGQLGSVII FYEPLQPPQV
810 820 830 840 850
KALYLAGPNC LSPWKCQESD MADLPGNILL YYTAKACKNS ICLDLSTNCL
860 870 880 890 900
HGRLTGNKVV NWDIKDIINC IGGLNVLFPL LEQISHFSEG QIPEEKNEST
910 920 930 940 950
VPESVTPVEG DWLVWTSTKA SESRLERNLV ATFILIVKHF IQRHPINQGN
960 970 980 990 1000
LIHSHGVATL GALLQKVPST LMDVNVLMAV QLLIEQVSLE KNMQLLQQMY
1010 1020 1030 1040 1050
QYLLFDFRIW NRGDFPFRIG HIQYLSTIIK DSRRVFRKKY GVQFLLDTLR
1060 1070 1080 1090 1100
IYYGNGCKYN ELSLDDIRTI RTSLYGLIKY FLCKGGSHEE IQSIMGYIAA
1110 1120 1130 1140 1150
TNEEEQLFGI LDVLFSLLRT SPTRGQLFLL LFEPGNADIL YALLLNQKYS
1160 1170 1180 1190 1200
DRLREIIFKI MEQMLKCTNV YERSKQHIRL REVGYSGLGL LLNEALVNTS
1210 1220 1230 1240 1250
LIKNLTHQII NTDPVINFKD LLSVVYISHR AHINVRVAIC RKVLQILQFQ
1260 1270 1280 1290 1300
PDAAHQISQQ VGWQDTLVRL FLKAKFENGN TLHKHSRAVL MKDNDKNMST
1310 1320 1330 1340 1350
EDTKKNSDEK TDEEKITSFA SANVSSDQWS LEDRHSLDSN TPLFPEDSSV
1360 1370 1380 1390 1400
GELSFKSENQ EEFWHSNPSH LSLDLSGIDS CEMSDSGSQV PDSLPSTPSP
1410 1420 1430 1440 1450
VESTKSFSVH SDRESSITND MGFSDDFSLL ESQERCEEEL LQLLTHILNY
1460 1470 1480 1490 1500
VMCKGLEKSD DDTWIERGQV FSALSKPGIS SELLRPSDEI KLTLLQKMLE
1510 1520 1530 1540 1550
WAISENREAK TNPVTAENAF RLVLIIQDFL QSEGLVNSNM WTEKLLEDMM
1560 1570 1580 1590 1600
LLFDCLSVCY SESPVWVKLS QIQIQLLLGF IGRGNLQVCA MASAKLNTLL
1610 1620 1630 1640 1650
QTKVIENQDE ACYILGKLEH VLSQSIKEQT EIYSFLIPLV RTLVSKIYEL
1660 1670 1680 1690 1700
LFMNLHLPSL PFTNGSSSFF EDFQEYCNSN EWQVYIEKYI VPYMKQYEAH
1710 1720 1730 1740 1750
TFYDGHENMA LYWKDCYEAL MVNMHKRDRE GGESKLKFQE LFVEPFNRKA
1760 1770 1780 1790 1800
RQENLRYNNM LKQLSSQQLA TLRRWKAIQL YLTCERGPWA KRKQNPIHWK
1810 1820 1830 1840 1850
LANVENYSRM RLKLVPNYNF KTHEEASALR DNLGIQHSQP SSDTLLLEVV
1860 1870 1880 1890 1900
KQVKVSDMVE DKLDLPEEDI TARVNVDEKE EQDQKEKLVL MEDCELITII
1910 1920 1930 1940 1950
DVIPGRLEIT TQHIYFYDGS IEKEDGVGFD FKWPHSQIRE IHLRRYNLRR
1960 1970 1980 1990 2000
SALEIFHVDQ SNYFLNFKKE VRNKIYSRLL SLHSPNSYYG SRSPQELFKA
2010 2020 2030 2040 2050
SGLTQKWVNR EISNFDYLIQ INTMAGRTYN DLAQYPVFPW ILQDYTSEEL
2060 2070 2080 2090 2100
DLNNPAVFRD LSKPIGVVNE KNAKAMREKY ENFEDPMGTI DKFHYGTHYS
2110 2120 2130 2140 2150
NSAGVMHYLI RVEPFTTLHI QLQSGRFDCA DRQFHSIPAT WQALMDNPYD
2160 2170 2180 2190 2200
VKELIPEFFY FPEFLENQNQ FNLGRLQISK ELVNDVILPK WAKSAEDFIY
2210 2220 2230 2240 2250
KHRKALESEY VSAHLHEWID LIFGYKQRGP AAVEALNVFY YCSYEGAVDL
2260 2270 2280 2290 2300
DALTDEKERK ALEGMINNFG QTPCQLLKEP HPPRLSAEEA VQKPTKIDTS
2310 2320 2330 2340 2350
TLNLFQHLPE LKSFFIEGIS DGIPLLKATI PKNQYRSFMS QGSPELLITI
2360 2370 2380 2390 2400
SMNYVIGTHG WLPYDRNISN YFTFIKDQTV TNPKTQRSIN GSFAPGLEIT
2410 2420 2430 2440 2450
SKLFVVSHDA KLLFSAGYWD NSIQVMSLTK GKIISHIIRH MDIVTCLATD
2460 2470 2480 2490 2500
YCGIHLISGS RDTTCMIWQI TQQGGVPVGL ASKPFQILYG HTNEVLSVGI
2510 2520 2530 2540 2550
STELDMAVSG SRDGTVIIHT IQKGQYMRTL RPPCESSLFL TIPNLAISWE
2560 2570 2580 2590 2600
GHIVVYSSTE EKTTLKDKNA LHLFSINGKY LGSQILKEQV SDICIIGEHI
2610 2620 2630 2640 2650
VTGSIQGFLS IRDLHSLNLS INPLAMRLPI HCVCVTKEYS HILVGLEDGK
2660 2670 2680 2690
LIVVGVGKPA EMRSGQLSRK FWGSSKRLSQ ISAGETEYNT QDSK
Length:2,694
Mass (Da):307,237
Last modified:June 15, 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:iB62684F310239FA9
GO
Isoform 1 (identifier: Q6ZS30-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2279-2347: Missing.
     2522-2542: Missing.

Show »
Length:2,604
Mass (Da):297,072
Checksum:iCB20DA3739064FD7
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZA0H7BZA0_HUMAN
Neurobeachin-like protein 1
NBEAL1
709Annotation 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>
H7C3C8H7C3C8_HUMAN
Neurobeachin-like protein 1
NBEAL1
230Annotation 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 AAO45288 differs from that shown. Reason: Frameshift at positions 1666 and 1675.Curated
The sequence BAB69027 differs from that shown. Reason: Erroneous termination at position 2695. Translated as stop.Curated
The sequence BAC85289 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC87125 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC87543 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 conflicti1763Q → R in BAC87125 (PubMed:14702039).Curated1
Sequence conflicti2330I → V in BAC87543 (PubMed:14702039).Curated1
Sequence conflicti2330I → V in AAO45288 (PubMed:15193433).Curated1

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_0393372279 – 2347Missing in isoform 1. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_0393382522 – 2542Missing in isoform 1. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC011737 Genomic DNA No translation available.
AB053318 mRNA Translation: BAB69026.1
AB053319 mRNA Translation: BAB69027.1 Sequence problems.
AK127772 mRNA Translation: BAC87125.1 Different initiation.
AK128636 mRNA Translation: BAC87543.1 Different initiation.
AK130065 mRNA Translation: BAC85289.1 Different initiation.
AY172970 mRNA Translation: AAO45288.1 Frameshift.

The Consensus CDS (CCDS) project

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CCDSi
CCDS46495.1 [Q6ZS30-2]

NCBI Reference Sequences

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RefSeqi
NP_001107604.1, NM_001114132.1 [Q6ZS30-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.648846

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000449802; ENSP00000399903; ENSG00000144426 [Q6ZS30-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
65065

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:65065

UCSC genome browser

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UCSCi
uc002uzt.4 human [Q6ZS30-2]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AC011737 Genomic DNA No translation available.
AB053318 mRNA Translation: BAB69026.1
AB053319 mRNA Translation: BAB69027.1 Sequence problems.
AK127772 mRNA Translation: BAC87125.1 Different initiation.
AK128636 mRNA Translation: BAC87543.1 Different initiation.
AK130065 mRNA Translation: BAC85289.1 Different initiation.
AY172970 mRNA Translation: AAO45288.1 Frameshift.
CCDSiCCDS46495.1 [Q6ZS30-2]
RefSeqiNP_001107604.1, NM_001114132.1 [Q6ZS30-2]
UniGeneiHs.648846

3D structure databases

ProteinModelPortaliQ6ZS30
SMRiQ6ZS30
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122383, 13 interactors
IntActiQ6ZS30, 15 interactors
STRINGi9606.ENSP00000399903

PTM databases

iPTMnetiQ6ZS30
PhosphoSitePlusiQ6ZS30

Polymorphism and mutation databases

BioMutaiNBEAL1
DMDMi298286908

Proteomic databases

EPDiQ6ZS30
jPOSTiQ6ZS30
PaxDbiQ6ZS30
PeptideAtlasiQ6ZS30
PRIDEiQ6ZS30
ProteomicsDBi68187
68188 [Q6ZS30-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
65065
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000449802; ENSP00000399903; ENSG00000144426 [Q6ZS30-2]
GeneIDi65065
KEGGihsa:65065
UCSCiuc002uzt.4 human [Q6ZS30-2]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
65065
DisGeNETi65065
EuPathDBiHostDB:ENSG00000144426.18

GeneCards: human genes, protein and diseases

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GeneCardsi
NBEAL1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0002758
HGNCiHGNC:20681 NBEAL1
HPAiHPA049189
HPA049447
MIMi609816 gene
neXtProtiNX_Q6ZS30
OpenTargetsiENSG00000144426
PharmGKBiPA24740

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1787 Eukaryota
ENOG410XNQC LUCA
GeneTreeiENSGT00940000155041
InParanoidiQ6ZS30
OMAiCYEAFMV
OrthoDBi101142at2759
PhylomeDBiQ6ZS30
TreeFamiTF323165

Enzyme and pathway databases

SignaLinkiQ6ZS30

Miscellaneous databases

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

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ChiTaRSi
NBEAL1 human

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

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GenomeRNAii
65065

Protein Ontology

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PROi
PR:Q6ZS30

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000144426 Expressed in 190 organ(s), highest expression level in stomach
ExpressionAtlasiQ6ZS30 baseline and differential
GenevisibleiQ6ZS30 HS

Family and domain databases

CDDicd06071 Beach, 1 hit
cd01201 PH_BEACH, 1 hit
Gene3Di1.10.1540.10, 1 hit
2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000409 BEACH_dom
IPR036372 BEACH_dom_sf
IPR013320 ConA-like_dom_sf
IPR031570 DUF4704
IPR023362 PH-BEACH_dom
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF02138 Beach, 1 hit
PF15787 DUF4704, 1 hit
PF14844 PH_BEACH, 1 hit
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 3 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
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiNBEL1_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: Q6ZS30
Secondary accession number(s): A6NHD5
, Q6Y876, Q6ZP36, Q6ZQY5, Q8N8R4, Q96Q30, Q96Q31
<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: January 24, 2006
Last sequence update: June 15, 2010
Last modified: February 13, 2019
This is version 135 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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