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Protein

Neurobeachin-like protein 2

Gene

NBEAL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.2 Publications

GO - Molecular functioni

GO - Biological processi

  • platelet formation Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.
SignaLinkiQ6ZNJ1.

Names & Taxonomyi

Protein namesi
Recommended name:
Neurobeachin-like protein 2
Gene namesi
Name:NBEAL2
Synonyms:KIAA0540
ORF Names:UNQ253/PRO290
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:31928. NBEAL2.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • extrinsic component of membrane Source: GO_Central
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Gray platelet syndrome (GPS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules.
See also OMIM:139090
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066976388L → P in GPS. 2 PublicationsCorresponds to variant rs387907113dbSNPEnsembl.1
Natural variantiVAR_066977643E → V in GPS. 1 PublicationCorresponds to variant rs387907114dbSNPEnsembl.1
Natural variantiVAR_066978677W → R in GPS. 1 Publication1
Natural variantiVAR_0669801833E → K in GPS. 1 Publication1
Natural variantiVAR_0669811839R → C in GPS. 1 PublicationCorresponds to variant rs750160418dbSNPEnsembl.1
Natural variantiVAR_0669822100P → L in GPS. 1 PublicationCorresponds to variant rs387907115dbSNPEnsembl.1
Natural variantiVAR_0669832263H → Y in GPS. 1 Publication1
Natural variantiVAR_0669842269S → L in GPS. 1 PublicationCorresponds to variant rs749896920dbSNPEnsembl.1

Organism-specific databases

DisGeNETi23218.
MalaCardsiNBEAL2.
MIMi139090. phenotype.
OpenTargetsiENSG00000160796.
Orphaneti721. Gray platelet syndrome.
PharmGKBiPA128394612.

Polymorphism and mutation databases

BioMutaiNBEAL2.
DMDMi189030821.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003332541 – 2754Neurobeachin-like protein 2Add BLAST2754

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1647PhosphoserineCombined sources1
Modified residuei1867PhosphothreonineCombined sources1
Modified residuei2739PhosphoserineCombined sources1
Modified residuei2742PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ZNJ1.
MaxQBiQ6ZNJ1.
PaxDbiQ6ZNJ1.
PeptideAtlasiQ6ZNJ1.
PRIDEiQ6ZNJ1.

PTM databases

iPTMnetiQ6ZNJ1.
PhosphoSitePlusiQ6ZNJ1.

Expressioni

Tissue specificityi

Expressed in megakaryocytes.1 Publication

Gene expression databases

BgeeiENSG00000160796.
CleanExiHS_NBEAL2.
ExpressionAtlasiQ6ZNJ1. baseline and differential.
GenevisibleiQ6ZNJ1. HS.

Organism-specific databases

HPAiHPA051969.

Interactioni

Protein-protein interaction databases

BioGridi116825. 5 interactors.
IntActiQ6ZNJ1. 5 interactors.
STRINGi9606.ENSP00000415034.

Structurei

3D structure databases

ProteinModelPortaliQ6ZNJ1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1515 – 1555WD 1Add BLAST41
Domaini1915 – 2040BEACH-type PHPROSITE-ProRule annotationAdd BLAST126
Domaini2053 – 2345BEACHPROSITE-ProRule annotationAdd BLAST293
Repeati2457 – 2499WD 2Add BLAST43
Repeati2500 – 2539WD 3Add BLAST40
Repeati2551 – 2592WD 4Add BLAST42
Repeati2685 – 2724WD 5Add BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1133 – 1267Leu-richAdd BLAST135
Compositional biasi1302 – 1342Pro-richAdd BLAST41

Sequence similaritiesi

Belongs to the WD repeat neurobeachin family.Curated
Contains 1 BEACH domain.PROSITE-ProRule annotation
Contains 1 BEACH-type PH domain.PROSITE-ProRule annotation
Contains 5 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1787. Eukaryota.
ENOG410XNQC. LUCA.
GeneTreeiENSGT00760000119083.
HOGENOMiHOG000007936.
HOVERGENiHBG108176.
InParanoidiQ6ZNJ1.
OMAiLCEGLFD.
OrthoDBiEOG091G031Z.
PhylomeDBiQ6ZNJ1.
TreeFamiTF323165.

Family and domain databases

CDDicd06071. Beach. 1 hit.
Gene3Di1.10.1540.10. 1 hit.
2.130.10.10. 1 hit.
2.30.29.40. 1 hit.
InterProiIPR016024. ARM-type_fold.
IPR000409. BEACH_dom.
IPR013320. ConA-like_dom.
IPR031570. DUF4704.
IPR026916. NBEAL2.
IPR023362. PH-BEACH_dom.
IPR011993. PH_dom-like.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR13743:SF50. PTHR13743:SF50. 2 hits.
PfamiPF02138. Beach. 1 hit.
PF15787. DUF4704. 1 hit.
PF14844. PH_BEACH. 1 hit.
PF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM01026. Beach. 1 hit.
SM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
SSF49899. SSF49899. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF50978. SSF50978. 1 hit.
SSF81837. SSF81837. 1 hit.
PROSITEiPS50197. BEACH. 1 hit.
PS51783. PH_BEACH. 1 hit.
PS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZNJ1-1) [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
MAASERLYEL WLLYYAQKDL GYLQQWLKAF VGAFKKSISL SSLEPRRPEE
60 70 80 90 100
AGAEVPLLPL DELHVLAEQL HQADLEQALL LLKLFIILCR NLENIEAGRG
110 120 130 140 150
QVLVPRVLAL LTKLVAELKG CPPPQGRGTQ LENVALHALL LCEGLFDPYQ
160 170 180 190 200
TWRRQRSGEV ISSKEKSKYK FPPAALPQEF SAFFQESLQN ADHLPPILLL
210 220 230 240 250
RLIHLFCAVL AGGKENGQMA VSDGSVKGLL SVVRGWSRGP APDPCLVPLA
260 270 280 290 300
LEALVGAVHV LHASRAPPRG PELRALLESY FHVLNADWPA GLSSGPEEAL
310 320 330 340 350
VTLRVSMLDA IPMMLACEDR PVLQATFLSN NCFEHLTRLI QNSKLYLQSR
360 370 380 390 400
APPEGDSDLA TRLLTEPDVQ KVLDQDTDAI AVHVVRVLTC IMSDSPSAKE
410 420 430 440 450
VFKERIGYPH LQEVLQSHGP PTHRLLQELL NMAVEGDHSM CPPPPIRNEQ
460 470 480 490 500
PVLVLAQWLP SLPTAELRLF LAQRLRWLCD SCPASRATCV QAGLVGCLLE
510 520 530 540 550
TLSTGLALEA RCQEQLLALL QALGRVSIRP MELRHLLRPR PGLDSEPGGA
560 570 580 590 600
EAGKARHAGA VIRTLSGMAR HQGPARALRY FDLTPSMAGI MVPPVQRWPG
610 620 630 640 650
PGFTFHAWLC LHPMDTAPTP APTRPLQRKQ LYSFFTSSGS GFEAFFTAAG
660 670 680 690 700
TLVVAVCTRK EYLTMSLPEV SFADSAWHCV AIVHVPGRRP FSQNLVHVYK
710 720 730 740 750
DGHLVKTAPL RCPSLSEPFS SCCIGSAGYR TTTTTTGLPT PPVPATLAYT
760 770 780 790 800
HPALTRSQSV PASTGLGWGS GLVAPLQEGS IDSTLAGTQD TRWGSPTSLE
810 820 830 840 850
GELGAVAIFH EALQATALRT LCTLGPNETA PFKPEGELHE LSTRLLLHYS
860 870 880 890 900
PQACKNNICL DLSPSHGLDG RLTGHRVETW DVKDVVNCVG GMGALLPLLE
910 920 930 940 950
RVAAQPKEAE AGPAETHDLV GPELTSGHNT QGLVLPLGKS SEERMERNAV
960 970 980 990 1000
AAFLLMLRNF LQGHMVNQES LVQCQGPAII GALLRKVPSW AMDMNVLMSA
1010 1020 1030 1040 1050
QLLMEQVAAE GSGPLLYLLY QHLLFNFHLW TLSDFAVRLG HIQYMSSIVR
1060 1070 1080 1090 1100
EHRQKLRKKY GVQFILDALR THYSPQRERP LAADDLRTVQ TSLLGLAREF
1110 1120 1130 1140 1150
LVRSLSADDV QVTQTMLSFL AATGDDGQAV GALDLLLALL HGSLVQESLA
1160 1170 1180 1190 1200
VFLLEPGNLE VLLALLVRPG SLPLLPDRVC KILRRLQQNE RLPERSRQRL
1210 1220 1230 1240 1250
RLRECGLQGL VACLPEGTVS PQLCQGLYKL FLGADCLNLS DLLAVVQLSL
1260 1270 1280 1290 1300
QADLSVRLDI CRQLFHLIYG QPDVVRLLAR QAGWQDVLTR LYVLEAATAG
1310 1320 1330 1340 1350
SPPPSSPESP TSPKPAPPKP PTESPAEPSD VFLPSEAPCP DPDGFYHALS
1360 1370 1380 1390 1400
PFCTPFDLGL ERSSVGSGNT AGGGGSSGTL TPASQPGTPS PLDGPRPFPA
1410 1420 1430 1440 1450
APGRHSSSLS NVLEDGSLPE PTISGDDTSN TSNPQQTSEE ELCNLLTNVL
1460 1470 1480 1490 1500
FSVTWRGVEG SDEAAWRERG QVFSVLTQLG ASATLVRPPD CIKRSLLEMM
1510 1520 1530 1540 1550
LESALTDIKE APVGVLASLT QQALWLLRLL QDFLCAEGHG NQELWSEKLF
1560 1570 1580 1590 1600
EGVCSLLDRL GAWPHLANGT ADLREMAQIG LRLVLGYILL EDPQLHAQAY
1610 1620 1630 1640 1650
VRLHMLLQTA VPARREEACY VLSKLEAALG RVLNTSSLES ATDEAGSPLA
1660 1670 1680 1690 1700
AAAAAAAAER CSWLVPLVRT LLDRAYEPLG LQWGLPSLPP TNGSPTFFED
1710 1720 1730 1740 1750
FQAFCATPEW RHFIDKQVQP TMSQFEMDTY AKSHDLMSGF WNACYDMLMS
1760 1770 1780 1790 1800
SGQRRQWERA QSRRAFQELV LEPAQRRARL EGLRYTAVLK QQATQHSMAL
1810 1820 1830 1840 1850
LHWGALWRQL ASPCGAWALR DTPIPRWKLS SAETYSRMRL KLVPNHHFDP
1860 1870 1880 1890 1900
HLEASALRDN LGEVPLTPTE EASLPLAVTK EAKVSTPPEL LQEDQLGEDE
1910 1920 1930 1940 1950
LAELETPMEA AELDEQREKL VLSAECQLVT VVAVVPGLLE VTTQNVYFYD
1960 1970 1980 1990 2000
GSTERVETEE GIGYDFRRPL AQLREVHLRR FNLRRSALEL FFIDQANYFL
2010 2020 2030 2040 2050
NFPCKVGTTP VSSPSQTPRP QPGPIPPHTQ VRNQVYSWLL RLRPPSQGYL
2060 2070 2080 2090 2100
SSRSPQEMLR ASGLTQKWVQ REISNFEYLM QLNTIAGRTY NDLSQYPVFP
2110 2120 2130 2140 2150
WVLQDYVSPT LDLSNPAVFR DLSKPIGVVN PKHAQLVREK YESFEDPAGT
2160 2170 2180 2190 2200
IDKFHYGTHY SNAAGVMHYL IRVEPFTSLH VQLQSGRFDC SDRQFHSVAA
2210 2220 2230 2240 2250
AWQARLESPA DVKELIPEFF YFPDFLENQN GFDLGCLQLT NEKVGDVVLP
2260 2270 2280 2290 2300
PWASSPEDFI QQHRQALESE YVSAHLHEWI DLIFGYKQRG PAAEEALNVF
2310 2320 2330 2340 2350
YYCTYEGAVD LDHVTDERER KALEGIISNF GQTPCQLLKE PHPTRLSAEE
2360 2370 2380 2390 2400
AAHRLARLDT NSPSIFQHLD ELKAFFAEVV SDGVPLVLAL VPHRQPHSFI
2410 2420 2430 2440 2450
TQGSPDLLVT VSASGLLGTH SWLPYDRNIS NYFSFSKDPT MGSHKTQRLL
2460 2470 2480 2490 2500
SGPWVPGSGV SGQALAVAPD GKLLFSGGHW DGSLRVTALP RGKLLSQLSC
2510 2520 2530 2540 2550
HLDVVTCLAL DTCGIYLISG SRDTTCMVWR LLHQGGLSVG LAPKPVQVLY
2560 2570 2580 2590 2600
GHGAAVSCVA ISTELDMAVS GSEDGTVIIH TVRRGQFVAA LRPLGATFPG
2610 2620 2630 2640 2650
PIFHLALGSE GQIVVQSSAW ERPGAQVTYS LHLYSVNGKL RASLPLAEQP
2660 2670 2680 2690 2700
TALTVTEDFV LLGTAQCALH ILQLNTLLPA APPLPMKVAI RSVAVTKERS
2710 2720 2730 2740 2750
HVLVGLEDGK LIVVVAGQPS EVRSSQFARK LWRSSRRISQ VSSGETEYNP

TEAR
Length:2,754
Mass (Da):302,517
Last modified:May 20, 2008 - v2
Checksum:iD3DA8DBDF9BB11CC
GO
Isoform 2 (identifier: Q6ZNJ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1129-1181: Missing.
     1235-1365: Missing.

Show »
Length:2,570
Mass (Da):282,861
Checksum:iD0E939B3A3A6089F
GO
Isoform 3 (identifier: Q6ZNJ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2379-2408: Missing.

Note: No experimental confirmation available.
Show »
Length:2,724
Mass (Da):299,342
Checksum:i0A81885371102A7C
GO

Sequence cautioni

The sequence BAC03994 differs from that shown. Aberrant splicing.Curated
The sequence BAC85154 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti79L → P in BAC03994 (PubMed:14702039).Curated1
Sequence conflicti1845N → K in AAH60874 (PubMed:15489334).Curated1
Sequence conflicti2161S → P in AAH60874 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06697586I → V in a patient with gray platelet syndrome. 1 PublicationCorresponds to variant rs754407148dbSNPEnsembl.1
Natural variantiVAR_066976388L → P in GPS. 2 PublicationsCorresponds to variant rs387907113dbSNPEnsembl.1
Natural variantiVAR_043133447R → H.Corresponds to variant rs17079425dbSNPEnsembl.1
Natural variantiVAR_043134511R → G.Corresponds to variant rs11720139dbSNPEnsembl.1
Natural variantiVAR_066977643E → V in GPS. 1 PublicationCorresponds to variant rs387907114dbSNPEnsembl.1
Natural variantiVAR_066978677W → R in GPS. 1 Publication1
Natural variantiVAR_066979682I → F in a patient with gray platelet syndrome. 1 PublicationCorresponds to variant rs773164015dbSNPEnsembl.1
Natural variantiVAR_0669801833E → K in GPS. 1 Publication1
Natural variantiVAR_0669811839R → C in GPS. 1 PublicationCorresponds to variant rs750160418dbSNPEnsembl.1
Natural variantiVAR_0431351877A → G.Corresponds to variant rs4682830dbSNPEnsembl.1
Natural variantiVAR_0431362054S → F.Corresponds to variant rs2305637dbSNPEnsembl.1
Natural variantiVAR_0669822100P → L in GPS. 1 PublicationCorresponds to variant rs387907115dbSNPEnsembl.1
Natural variantiVAR_0669832263H → Y in GPS. 1 Publication1
Natural variantiVAR_0669842269S → L in GPS. 1 PublicationCorresponds to variant rs749896920dbSNPEnsembl.1
Natural variantiVAR_0669852553G → E.1 PublicationCorresponds to variant rs144664865dbSNPEnsembl.1
Natural variantiVAR_0431372747E → K.Corresponds to variant rs12893dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0335051129 – 1181Missing in isoform 2. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_0335061235 – 1365Missing in isoform 2. 1 PublicationAdd BLAST131
Alternative sequenceiVSP_0335072379 – 2408Missing in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131104 mRNA. Translation: BAC85154.1. Different initiation.
AC094020 Genomic DNA. No translation available.
AK092871 mRNA. Translation: BAC03994.1. Sequence problems.
AB011112 mRNA. Translation: BAA25466.3.
AY358455 mRNA. Translation: AAQ88820.1.
BC060874 mRNA. Translation: AAH60874.2.
CCDSiCCDS46817.1. [Q6ZNJ1-1]
PIRiT00271.
RefSeqiNP_055990.1. NM_015175.2. [Q6ZNJ1-1]
XP_011531835.1. XM_011533533.2. [Q6ZNJ1-3]
UniGeneiHs.437043.

Genome annotation databases

EnsembliENST00000450053; ENSP00000415034; ENSG00000160796. [Q6ZNJ1-1]
GeneIDi23218.
KEGGihsa:23218.
UCSCiuc003cqp.4. human. [Q6ZNJ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131104 mRNA. Translation: BAC85154.1. Different initiation.
AC094020 Genomic DNA. No translation available.
AK092871 mRNA. Translation: BAC03994.1. Sequence problems.
AB011112 mRNA. Translation: BAA25466.3.
AY358455 mRNA. Translation: AAQ88820.1.
BC060874 mRNA. Translation: AAH60874.2.
CCDSiCCDS46817.1. [Q6ZNJ1-1]
PIRiT00271.
RefSeqiNP_055990.1. NM_015175.2. [Q6ZNJ1-1]
XP_011531835.1. XM_011533533.2. [Q6ZNJ1-3]
UniGeneiHs.437043.

3D structure databases

ProteinModelPortaliQ6ZNJ1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116825. 5 interactors.
IntActiQ6ZNJ1. 5 interactors.
STRINGi9606.ENSP00000415034.

PTM databases

iPTMnetiQ6ZNJ1.
PhosphoSitePlusiQ6ZNJ1.

Polymorphism and mutation databases

BioMutaiNBEAL2.
DMDMi189030821.

Proteomic databases

EPDiQ6ZNJ1.
MaxQBiQ6ZNJ1.
PaxDbiQ6ZNJ1.
PeptideAtlasiQ6ZNJ1.
PRIDEiQ6ZNJ1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000450053; ENSP00000415034; ENSG00000160796. [Q6ZNJ1-1]
GeneIDi23218.
KEGGihsa:23218.
UCSCiuc003cqp.4. human. [Q6ZNJ1-1]

Organism-specific databases

CTDi23218.
DisGeNETi23218.
GeneCardsiNBEAL2.
HGNCiHGNC:31928. NBEAL2.
HPAiHPA051969.
MalaCardsiNBEAL2.
MIMi139090. phenotype.
614169. gene.
neXtProtiNX_Q6ZNJ1.
OpenTargetsiENSG00000160796.
Orphaneti721. Gray platelet syndrome.
PharmGKBiPA128394612.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1787. Eukaryota.
ENOG410XNQC. LUCA.
GeneTreeiENSGT00760000119083.
HOGENOMiHOG000007936.
HOVERGENiHBG108176.
InParanoidiQ6ZNJ1.
OMAiLCEGLFD.
OrthoDBiEOG091G031Z.
PhylomeDBiQ6ZNJ1.
TreeFamiTF323165.

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.
SignaLinkiQ6ZNJ1.

Miscellaneous databases

ChiTaRSiNBEAL2. human.
GeneWikiiNBEAL2.
GenomeRNAii23218.
PROiQ6ZNJ1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160796.
CleanExiHS_NBEAL2.
ExpressionAtlasiQ6ZNJ1. baseline and differential.
GenevisibleiQ6ZNJ1. HS.

Family and domain databases

CDDicd06071. Beach. 1 hit.
Gene3Di1.10.1540.10. 1 hit.
2.130.10.10. 1 hit.
2.30.29.40. 1 hit.
InterProiIPR016024. ARM-type_fold.
IPR000409. BEACH_dom.
IPR013320. ConA-like_dom.
IPR031570. DUF4704.
IPR026916. NBEAL2.
IPR023362. PH-BEACH_dom.
IPR011993. PH_dom-like.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR13743:SF50. PTHR13743:SF50. 2 hits.
PfamiPF02138. Beach. 1 hit.
PF15787. DUF4704. 1 hit.
PF14844. PH_BEACH. 1 hit.
PF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM01026. Beach. 1 hit.
SM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
SSF49899. SSF49899. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF50978. SSF50978. 1 hit.
SSF81837. SSF81837. 1 hit.
PROSITEiPS50197. BEACH. 1 hit.
PS51783. PH_BEACH. 1 hit.
PS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNBEL2_HUMAN
AccessioniPrimary (citable) accession number: Q6ZNJ1
Secondary accession number(s): O60288
, Q6P994, Q6UX91, Q8NAC9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: November 30, 2016
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.