NBEAL1 (neurobeachin like 1)

Gene

• Entrez ID: 65065
• Gene name: Neurobeachin like 1
• Gene symbol: NBEAL1
• Synonyms (NCBI Gene): A530083I02Rik, ALS2CR16, ALS2CR17
• Chromosome: 2
• Chromosome location: 2q33.2

miRNA

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
MIRT497120	hsa-miR-137	PAR-CLIP	22291592
MIRT497119	hsa-miR-3672	PAR-CLIP	22291592
MIRT497118	hsa-miR-6864-3p	PAR-CLIP	22291592
MIRT497117	hsa-miR-5089-3p	PAR-CLIP	22291592
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
MIRT497120	hsa-miR-137	PAR-CLIP	22291592
MIRT497119	hsa-miR-3672	PAR-CLIP	22291592
MIRT497118	hsa-miR-6864-3p	PAR-CLIP	22291592
MIRT497117	hsa-miR-5089-3p	PAR-CLIP	22291592
MIRT1174750	hsa-miR-219-1-3p	CLIP-seq
MIRT1174751	hsa-miR-2467-3p	CLIP-seq
MIRT1174752	hsa-miR-3678-3p	CLIP-seq
MIRT1174753	hsa-miR-3688-3p	CLIP-seq
MIRT1174754	hsa-miR-3942-5p	CLIP-seq
MIRT1174755	hsa-miR-4694-3p	CLIP-seq
MIRT1174756	hsa-miR-4703-5p	CLIP-seq
MIRT1174757	hsa-miR-576-3p	CLIP-seq
MIRT2050551	hsa-miR-4477a	CLIP-seq
MIRT2050552	hsa-miR-4477b	CLIP-seq
MIRT2050553	hsa-miR-4645-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005829	Component	Cytosol	IBA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0016020	Component	Membrane	IBA
GO:0019901	Function	Protein kinase binding	IBA

Other IDs

• MIM: 609816
• HGNC: 20681
• e!Ensembl: ENSG00000144426

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Anorexia Nervosa	Associate	27184124	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	39684352	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Associate	31430377, 35449099	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Associate	32161285, 34447459	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gray Platelet Syndrome	Associate	21765413	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Associate	28642624	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van der Woude syndrome	Stimulate	36074705	★☆☆☆☆ Found in Text Mining only