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UniProtKB - Q8NFP9 (NBEA_HUMAN)

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Protein

Neurobeachin

Gene

NBEA

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

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

SignaLinkiQ8NFP9

Names & Taxonomyi

Protein namesi
Recommended name:
Neurobeachin
Alternative name(s):
Lysosomal-trafficking regulator 2
Protein BCL8B
Gene namesi
Name:NBEA
Synonyms:BCL8B, KIAA1544, LYST2
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000172915.18
HGNCiHGNC:7648 NBEA
MIMi604889 gene
neXtProtiNX_Q8NFP9

Subcellular locationi

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

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi26960
OpenTargetsiENSG00000172915
PharmGKBiPA31454

Polymorphism and mutation databases

BioMutaiNBEA
DMDMi296439289

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000510891 – 2946NeurobeachinAdd BLAST2946

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

EPDiQ8NFP9
MaxQBiQ8NFP9
PaxDbiQ8NFP9
PeptideAtlasiQ8NFP9
PRIDEiQ8NFP9
ProteomicsDBi73333
73334 [Q8NFP9-2]

PTM databases

iPTMnetiQ8NFP9
PhosphoSitePlusiQ8NFP9

Expressioni

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

BgeeiENSG00000172915
CleanExiHS_NBEA
ExpressionAtlasiQ8NFP9 baseline and differential
GenevisibleiQ8NFP9 HS

Organism-specific databases

HPAiHPA039730
HPA040385

Interactioni

Subunit structurei

Interacts with RII subunit of PKA.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi117928, 17 interactors
IntActiQ8NFP9, 12 interactors
MINTiQ8NFP9
STRINGi9606.ENSP00000383295

Structurei

Secondary structure

12946
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi2154 – 2162Combined sources9
Beta strandi2165 – 2173Combined sources9
Beta strandi2175 – 2182Combined sources8
Helixi2187 – 2190Combined sources4
Helixi2194 – 2199Combined sources6
Beta strandi2206 – 2208Combined sources3
Helixi2209 – 2211Combined sources3
Beta strandi2212 – 2220Combined sources9
Beta strandi2223 – 2231Combined sources9
Beta strandi2236 – 2240Combined sources5
Helixi2244 – 2252Combined sources9
Helixi2269 – 2273Combined sources5
Helixi2276 – 2281Combined sources6
Helixi2285 – 2290Combined sources6
Helixi2296 – 2306Combined sources11
Helixi2314 – 2316Combined sources3
Beta strandi2328 – 2331Combined sources4
Helixi2337 – 2339Combined sources3
Helixi2347 – 2349Combined sources3
Helixi2352 – 2363Combined sources12
Beta strandi2374 – 2377Combined sources4
Helixi2382 – 2388Combined sources7
Turni2389 – 2391Combined sources3
Helixi2395 – 2401Combined sources7
Turni2402 – 2405Combined sources4
Turni2410 – 2412Combined sources3
Helixi2417 – 2426Combined sources10
Helixi2436 – 2439Combined sources4
Helixi2442 – 2445Combined sources4
Helixi2474 – 2485Combined sources12
Helixi2488 – 2491Combined sources4
Helixi2494 – 2501Combined sources8
Beta strandi2506 – 2508Combined sources3
Helixi2509 – 2513Combined sources5
Turni2520 – 2522Combined sources3
Turni2529 – 2531Combined sources3
Helixi2535 – 2548Combined sources14

3D structure databases

ProteinModelPortaliQ8NFP9
SMRiQ8NFP9
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NFP9

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1326 – 1368WD 1CuratedAdd BLAST43
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

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

Sequence similaritiesi

Belongs to the WD repeat neurobeachin family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1786 Eukaryota
ENOG410XNQC LUCA
GeneTreeiENSGT00760000119083
HOGENOMiHOG000082375
HOVERGENiHBG012582
InParanoidiQ8NFP9
PhylomeDBiQ8NFP9
TreeFamiTF313490

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, 2 hits
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

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1Curated (identifier: Q8NFP9-1) [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
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
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

Note: No experimental confirmation available.Curated
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.

Note: No experimental confirmation available.
Show »
Length:739
Mass (Da):84,001
Checksum:i38BA7126B5FFBBE7
GO

Sequence cautioni

The sequence AAD41633 differs from that shown. Reason: Frameshift at position 2900.Curated
The sequence BAA91485 differs from that shown. Reason: Erroneous termination at position 762. Translated as Trp.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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
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:
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]
UniGeneiHs.491172

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNBEA_HUMAN
AccessioniPrimary (citable) accession number: Q8NFP9
Secondary accession number(s): B7Z2H9
, Q5T320, Q9HCM8, Q9NSU1, Q9NW98, Q9Y6J1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: May 18, 2010
Last modified: July 18, 2018
This is version 162 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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