NBEAL1 (neurobeachin like 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65065
Gene name Gene Name - the full gene name approved by the HGNC.
Neurobeachin like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NBEAL1
Synonyms (NCBI Gene) Gene synonyms aliases
A530083I02Rik, ALS2CR16, ALS2CR17
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.2
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(29)
miRTarBase ID miRNA Experiments Reference
MIRT543534 hsa-miR-3156-5p PAR-CLIP 21572407
MIRT543532 hsa-miR-7161-3p PAR-CLIP 21572407
MIRT543533 hsa-miR-3148 PAR-CLIP 21572407
MIRT497122 hsa-miR-944 PAR-CLIP 22291592
MIRT497121 hsa-miR-873-3p PAR-CLIP 22291592
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0005829 Component Cytosol IBA 21873635
GO:0008104 Process Protein localization IBA 21873635
GO:0016020 Component Membrane IBA 21873635
GO:0019901 Function Protein kinase binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609816 20681 ENSG00000144426
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6ZS30
Protein name Neurobeachin-like protein 1 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15787 DUF4704 854 → 1133 Domain of unknown function (DUF4704) Family
PF16057 DUF4800 1580 → 1833 Family
PF14844 PH_BEACH 1894 → 1980 PH domain associated with Beige/BEACH Domain
PF02138 Beach 2005 → 2284 Beige/BEACH domain Family
PF00400 WD40 2431 → 2469 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: 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
Sequence 
MASRERLFELWMLYCTKKDPDYLKLWLDTFVSSYEQFLDVDFEKLPTRVDDMPPGISLLP
DNILQVLRIQLLQCVQKMADGLEEQQQALSILLVKFFIILCRNLSNVEEIGTCSYINYVI
TMTTLYIQQLKSKKKEKEMADQTCIEEFVIHALAFCESLYDPYRNWRHRISGRILSTVEK
SRQKYKPASLTVEFVPFFYQCFQESEHLKESLKCCLLHLFGAIVAGGQRNALQAISPATM
EVLMRVLADCDSWEDGDPEEVGRKAELTLKCLTEVVHILLSSNSDQRQVETSTILENYFK
LLNSDHSALPNQRRSRQWENRFIALQIKMLNTITAMLDCTDRPVLQAIFLNSNCFEHLIR
LLQNCKVFQGQLDCLAISTIQALTAVMNKSPAAKEVFKERIGYTHMLEVLKSLGQPPLEL
LKELMNMAVEGDHTSVGILGISNVQPLLLLIQWLPELQSHDLQIFISDWLKRICCINRQS
RTTCVNANMGIRIIETLDLHSSLHQTCAENLIAIHGSLGSQSVSSEEIRRLLRLLRVDES
ESVHPYVTPVTRAILTMARKLSLESALQYFNLSHSMAGISVPPIQKWPGSAFSFSAWFCL
DQDQLTLGIANKGGKRKQLYSFFTGSGMGFEAFITHSGMLVVAVCTKREYATVMLPDHSF
CDSLWHNITVVHMPGKRPFGQSFVYIYDNGQQKVSAPLRFPAMNEPFTSCCIGSAGQRTT
TPPPSQIPDPPFSSPITPHRTSFGGILSSASWGGTIEKSKLITKLISAGTQDSEWGCPTS
LEGQLGSVIIFYEPLQPPQVKALYLAGPNCLSPWKCQESDMADLPGNILLYYTAKACKNS
ICLDLSTNCLHGRLTGNKVVNWDIKDIINCIGGLNVLFPLLEQISHFSEGQIPEEKNEST
VPESVTPVEGDWLVWTSTKASESRLERNLVATFILIVKHFIQRHPINQGNLIHSHGVATL
GALLQKVPSTLMDVNVLMAVQLLIEQVSLEKNMQLLQQMYQYLLFDFRIWNRGDFPFRIG
HIQYLSTIIKDSRRVFRKKYGVQFLLDTLRIYYGNGCKYNELSLDDIRTIRTSLYGLIKY
FLCKGGSHEEIQSIMGYIAATNEEEQLFGILDVLFSLLRTSPTRGQLFLLLFEPGNADIL
YALLLNQKYSDRLREIIFKIMEQMLKCTNVYERSKQHIRLREVGYSGLGLLLNEALVNTS
LIKNLTHQIINTDPVINFKDLLSVVYISHRAHINVRVAICRKVLQILQFQPDAAHQISQQ
VGWQDTLVRLFLKAKFENGNTLHKHSRAVLMKDNDKNMSTEDTKKNSDEKTDEEKITSFA
SANVSSDQWSLEDRHSLDSNTPLFPEDSSVGELSFKSENQEEFWHSNPSHLSLDLSGIDS
CEMSDSGSQVPDSLPSTPSPVESTKSFSVHSDRESSITNDMGFSDDFSLLESQERCEEEL
LQLLTHILNYVMCKGLEKSDDDTWIERGQVFSALSKPGISSELLRPSDEIKLTLLQKMLE
WAISENREAKTNPVTAENAFRLVLIIQDFLQSEGLVNSNMWTEKLLEDMMLLFDCLSVCY
SESPVWVKLSQIQIQLLLGFIGRGNLQVCAMASAKLNTLLQTKVIENQDEACYILGKLEH
VLSQSIKEQTEIYSFLIPLVRTLVSKIYELLFMNLHLPSLPFTNGSSSFFEDFQEYCNSN
EWQVYIEKYIVPYMKQYEAHTFYDGHENMALYWKDCYEALMVNMHKRDREGGESKLKFQE
LFVEPFNRKARQENLRYNNMLKQLSSQQLATLRRWKAIQLYLTCERGPWAKRKQNPIHWK
LANVENYSRMRLKLVPNYNFKTHEEASALRDNLGIQHSQPSSDTLLLEVVKQVKVSDMVE
DKLDLPEEDITARVNVDEKEEQDQKEKLVLMEDCELITIIDVIPGRLEITTQHIYFYDGS
IEKEDGVGFDFKWPHSQIREIHLRRYNLRRSALEIFHVDQSNYFLNFKKEVRNKIYSRLL
SLHSPNSYYGSRSPQELFKASGLTQKWVNREISNFDYLIQINTMAGRTYNDLAQYPVFPW
ILQDYTSEELDLNNPAVFRDLSKPIGVVNEKNAKAMREKYENFEDPMGTIDKFHYGTHYS
NSAGVMHYLIRVEPFTTLHIQLQSGRFDCADRQFHSIPATWQALMDNPYDVKELIPEFFY
FPEFLENQNQFNLGRLQISKELVNDVILPKWAKSAEDFIYKHRKALESEYVSAHLHEWID
LIFGYKQRGPAAVEALNVFYYCSYEGAVDLDALTDEKERKALEGMINNFGQTPCQLLKEP
HPPRLSAEEAVQKPTKIDTSTLNLFQHLPELKSFFIEGISDGIPLLKATIPKNQYRSFMS
QGSPELLITISMNYVIGTHGWLPYDRNISNYFTFIKDQTVTNPKTQRSINGSFAPGLEIT
SKLFVVSHDAKLLFSAGYWDNSIQVMSLTKGKIISHIIRHMDIVTCLATDYCGIHLISGS
RDTTCMIWQITQQGGVPVGLASKPFQILYGHTNEVLSVGISTELDMAVSGSRDGTVIIHT
IQKGQYMRTLRPPCESSLFLTIPNLAISWEGHIVVYSSTEEKTTLKDKNALHLFSINGKY
LGSQILKEQVSDICIIGEHIVTGSIQGFLSIRDLHSLNLSINPLAMRLPIHCVCVTKEYS
HILVGLEDGKLIVVGVGKPAEMRSGQLSRKFWGSSKRLSQISAGETEYNTQDSK
Sequence length 2694
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778, 30104761
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Neuroticism Neuroticism GWAS
Coronary Heart Disease Coronary Heart Disease GWAS
Myocardial Infarction Myocardial Infarction GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining
Disease Name Relationship Type References
Anorexia Nervosa Associate 27184124
Breast Neoplasms Associate 39684352
Cerebral Small Vessel Diseases Associate 31430377, 35449099
Coronary Artery Disease Associate 32161285, 34447459
Gray Platelet Syndrome Associate 21765413
Myocardial Infarction Associate 28642624
Van der Woude syndrome Stimulate 36074705