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Protein

Neurobeachin-like protein 1

Gene

NBEAL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

SignaLinkiQ6ZS30

Names & Taxonomyi

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
Gene namesi
Name:NBEAL1
Synonyms:ALS2CR16, ALS2CR17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000144426.18
HGNCiHGNC:20681 NBEAL1
MIMi609816 gene
neXtProtiNX_Q6ZS30

Pathology & Biotechi

Organism-specific databases

DisGeNETi65065
OpenTargetsiENSG00000144426
PharmGKBiPA24740

Polymorphism and mutation databases

BioMutaiNBEAL1
DMDMi298286908

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000510941 – 2694Neurobeachin-like protein 1Add BLAST2694

Proteomic databases

EPDiQ6ZS30
PaxDbiQ6ZS30
PeptideAtlasiQ6ZS30
PRIDEiQ6ZS30
ProteomicsDBi68187
68188 [Q6ZS30-1]

PTM databases

iPTMnetiQ6ZS30
PhosphoSitePlusiQ6ZS30

Expressioni

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

BgeeiENSG00000144426
CleanExiHS_NBEAL1
ExpressionAtlasiQ6ZS30 baseline and differential
GenevisibleiQ6ZS30 HS

Organism-specific databases

HPAiHPA049189
HPA049447

Interactioni

Protein-protein interaction databases

BioGridi122383, 13 interactors
IntActiQ6ZS30, 15 interactors
STRINGi9606.ENSP00000399903

Structurei

3D structure databases

ProteinModelPortaliQ6ZS30
SMRiQ6ZS30
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1883 – 1980BEACH-type PHPROSITE-ProRule annotationAdd BLAST98
Domaini1992 – 2284BEACHPROSITE-ProRule annotationAdd BLAST293
Repeati2439 – 2478WD 1Add BLAST40
Repeati2490 – 2531WD 2Add BLAST42

Sequence similaritiesi

Belongs to the WD repeat neurobeachin family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1787 Eukaryota
ENOG410XNQC LUCA
GeneTreeiENSGT00760000119083
InParanoidiQ6ZS30
OMAiCYEAFMV
OrthoDBiEOG091G031Z
PhylomeDBiQ6ZS30
TreeFamiTF323165

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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
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
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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNBEL1_HUMAN
AccessioniPrimary (citable) accession number: Q6ZS30
Secondary accession number(s): A6NHD5
, Q6Y876, Q6ZP36, Q6ZQY5, Q8N8R4, Q96Q30, Q96Q31
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: June 15, 2010
Last modified: June 20, 2018
This is version 131 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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