NBEA

Protein identityUniProt · HPA

UniProt accession

Q8NFP9

Gene

NBEA

Ensembl

ENSG00000172915

Chromosome

13

Canonical length

2946 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]

Canonical amino-acid sequenceUniProt

2946 residues, UniProt reviewed canonical sequence.

>Q8NFP9|NBEA
     1  MASEKPGPGP GLEPQPVGLI AVGAAGGGGG GSGGGGTGGS GMGELRGASG SGSVMLPAGM
    61  INPSVPIRNI RMKFAVLIGL IQVGEVSNRD IVETVLNLLV GGEFDLEMNF IIQDAESITC
   121  MTELLEHCDV TCQAEIWSMF TAILRKSVRN LQTSTEVGLI EQVLLKMSAV DDMIADLLVD
   181  MLGVLASYSI TVKELKLLFS MLRGESGIWP RHAVKLLSVL NQMPQRHGPD TFFNFPGCSA
   241  AAIALPPIAK WPYQNGFTLN TWFRMDPLNN INVDKDKPYL YCFRTSKGVG YSAHFVGNCL
   301  IVTSLKSKGK GFQHCVKYDF QPRKWYMISI VHIYNRWRNS EIRCYVNGQL VSYGDMAWHV
   361  NTNDSYDKCF LGSSETADAN RVFCGQLGAV YVFSEALNPA QIFAIHQLGP GYKSTFKFKS
   421  ESDIHLAEHH KQVLYDGKLA SSIAFTYNAK ATDAQLCLES SPKENASIFV HSPHALMLQD
   481  VKAIVTHSIH SAIHSIGGIQ VLFPLFAQLD NRQLNDSQVE TTVCATLLAF LVELLKSSVA
   541  MQEQMLGGKG FLVIGYLLEK SSRVHITRAV LEQFLSFAKY LDGLSHGAPL LKQLCDHILF
   601  NPAIWIHTPA KVQLSLYTYL SAEFIGTATI YTTIRRVGTV LQLMHTLKYY YWVINPADSS
   661  GITPKGLDGP RPSQKEIISL RAFMLLFLKQ LILKDRGVKE DELQSILNYL LTMHEDENIH
   721  DVLQLLVALM SEHPASMIPA FDQRNGIRVI YKLLASKSES IWVQALKVLG YFLKHLGHKR
   781  KVEIMHTHSL FTLLGERLML HTNTVTVTTY NTLYEILTEQ VCTQVVHKPH PEPDSTVKIQ
   841  NPMILKVVAT LLKNSTPSAE LMEVRRLFLS DMIKLFSNSR ENRRCLLQCS VWQDWMFSLG
   901  YINPKNSEEQ KITEMVYNIF RILLYHAIKY EWGGWRVWVD TLSIAHSKVT YEAHKEYLAK
   961  MYEEYQRQEE ENIKKGKKGN VSTISGLSSQ TTGAKGGMEI REIEDLSQSQ SPESETDYPV
  1021  STDTRDLLMS TKVSDDILGN SDRPGSGVHV EVHDLLVDIK AEKVEATEVK LDDMDLSPET
  1081  LVGGENGALV EVESLLDNVY SAAVEKLQNN VHGSVGIIKK NEEKDNGPLI TLADEKEDLP
  1141  NSSTSFLFDK IPKQEEKLLP ELSSNHIIPN IQDTQVHLGV SDDLGLLAHM TGSVDLTCTS
  1201  SIIEEKEFKI HTTSDGMSSI SERDLASSTK GLEYAEMTAT TLETESSSSK IVPNIDAGSI
  1261  ISDTERSDDG KESGKEIRKI QTTTTTQAVQ GRSITQQDRD LRVDLGFRGM PMTEEQRRQF
  1321  SPGPRTTMFR IPEFKWSPMH QRLLTDLLFA LETDVHVWRS HSTKSVMDFV NSNENIIFVH
  1381  NTIHLISQMV DNIIIACGGI LPLLSAATSP TGSKTELENI EVTQGMSAET AVTFLSRLMA
  1441  MVDVLVFASS LNFSEIEAEK NMSSGGLMRQ CLRLVCCVAV RNCLECRQRQ RDRGNKSSHG
  1501  SSKPQEVPQS VTATAASKTP LENVPGNLSP IKDPDRLLQD VDINRLRAVV FRDVDDSKQA
  1561  QFLALAVVYF ISVLMVSKYR DILEPQRETT RTGSQPGRNI RQEINSPTST VVVIPSIPHP
  1621  SLNHGFLAKL IPEQSFGHSF YKETPAAFPD TIKEKETPTP GEDIQVESSI PHTDSGIGEE
  1681  QVASILNGAE LETSTGPDAM SELLSTLSSE VKKSQESLTE NPSETLKPAT SISSISQTKG
  1741  INVKEILKSL VAAPVEIAEC GPEPIPYPDP ALKRETQAIL PMQFHSFDRS VVVPVKKPPP
  1801  GSLAVTTVGA TTAGSGLPTG STSNIFAATG ATPKSMINTT GAVDSGSSSS SSSSSFVNGA
  1861  TSKNLPAVQT VAPMPEDSAE NMSITAKLER ALEKVAPLLR EIFVDFAPFL SRTLLGSHGQ
  1921  ELLIEGLVCM KSSTSVVELV MLLCSQEWQN SIQKNAGLAF IELINEGRLL CHAMKDHIVR
  1981  VANEAEFILN RQRAEDVHKH AEFESQCAQY AADRREEEKM CDHLISAAKH RDHVTANQLK
  2041  QKILNILTNK HGAWGAVSHS QLHDFWRLDY WEDDLRRRRR FVRNAFGSTH AEALLKAAIE
  2101  YGTEEDVVKS KKTFRSQAIV NQNAETELML EGDDDAVSLL QEKEIDNLAG PVVLSTPAQL
  2161  IAPVVVAKGT LSITTTEIYF EVDEDDSAFK KIDTKVLAYT EGLHGKWMFS EIRAVFSRRY
  2221  LLQNTALEVF MANRTSVMFN FPDQATVKKV VYSLPRVGVG TSYGLPQARR ISLATPRQLY
  2281  KSSNMTQRWQ RREISNFEYL MFLNTIAGRT YNDLNQYPVF PWVLTNYESE ELDLTLPGNF
  2341  RDLSKPIGAL NPKRAVFYAE RYETWEDDQS PPYHYNTHYS TATSTLSWLV RIEPFTTFFL
  2401  NANDGKFDHP DRTFSSVARS WRTSQRDTSD VKELIPEFYY LPEMFVNSNG YNLGVREDEV
  2461  VVNDVDLPPW AKKPEDFVRI NRMALESEFV SCQLHQWIDL IFGYKQRGPE AVRALNVFHY
  2521  LTYEGSVNLD SITDPVLREA MEAQIQNFGQ TPSQLLIEPH PPRSSAMHLC FLPQSPLMFK
  2581  DQMQQDVIMV LKFPSNSPVT HVAANTLPHL TIPAVVTVTC SRLFAVNRWH NTVGLRGAPG
  2641  YSLDQAHHLP IEMDPLIANN SGVNKRQITD LVDQSIQINA HCFVVTADNR YILICGFWDK
  2701  SFRVYSTETG KLTQIVFGHW DVVTCLARSE SYIGGDCYIV SGSRDATLLL WYWSGRHHII
  2761  GDNPNSSDYP APRAVLTGHD HEVVCVSVCA ELGLVISGAK EGPCLVHTIT GDLLRALEGP
  2821  ENCLFPRLIS VSSEGHCIIY YERGRFSNFS INGKLLAQME INDSTRAILL SSDGQNLVTG
  2881  GDNGVVEVWQ ACDFKQLYIY PGCDAGIRAM DLSHDQRTLI TGMASGSIVA FNIDFNRWHY
  2941  EHQNRY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBEA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0

Highest tissue expression

59 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NBEA.

Disease | AllUniProt

Conditions NBEA is implicated in, by any mechanism.

• Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) MIM:619157

Disease | GeneticClinVar

83 pathogenic / likely-pathogenic of 929 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with or without early-onset generalized epilepsy
• Inborn genetic diseases
• Intellectual disability
• NBEA-related disorder
• typical paroxysmal kinesigenic dyskinesia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.07

gnomAD pLI

1

gnomAD missense Z

5.51

DepMap mean gene effect

-0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intracellular protein localization

Molecular functions

• protein kinase binding

Cellular components

• cytosol
• endomembrane system
• membrane
• plasma membrane
• trans-Golgi network

Protein domainsUniProt · Pfam · InterPro

• BEACH domain
• WD40 repeat
• Neurobeachin-like, DUF1088
• PH-like domain superfamily
• Concanavalin A-like lectin/glucanase domain superfamily
• WD40/YVTN repeat-like-containing domain superfamily
• Armadillo-type fold
• PH-BEACH domain
• Neurobeachin/BDCP, DUF4704
• WD40-repeat-containing domain superfamily
• BEACH domain superfamily
• Neurobeachin, beta-propeller domain
• Neurobeachin, alpha-solenoid region
• BEACH Domain-Containing
• Beige/BEACH domain
• Neurobeachin-like, DUF1088
• Concanavalin A-like lectin/glucanases superfamily
• PH domain associated with Beige/BEACH
• Neurobeachin/BDCP, DUF4704 alpha solenoid region
• Neurobeachin alpha solenoid region
• Neurobeachin beta propeller domain

KeywordsUniProt

• Cytoplasm
• Epilepsy
• Intellectual disability
• Membrane
• Phosphoprotein
• Repeat
• WD repeat