ANKS1B (ankyrin repeat and sterile alpha motif domain containing 1B)

Gene

• Entrez ID: 56899
• Gene name: Ankyrin repeat and sterile alpha motif domain containing 1B
• Gene symbol: ANKS1B
• Synonyms: AIDA, AIDA-1, ANKS2, EB-1, EB1, cajalin-2
• Chromosome: 12
• Chromosome location: 12q23.1
• Summary: This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer`s dise

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022633	hsa-miR-124-3p	Microarray	18668037
MIRT785366	hsa-miR-147	CLIP-seq
MIRT785367	hsa-miR-186	CLIP-seq
MIRT785368	hsa-miR-2113	CLIP-seq
MIRT785369	hsa-miR-218	CLIP-seq
MIRT785370	hsa-miR-2355-5p	CLIP-seq
MIRT785371	hsa-miR-3133	CLIP-seq
MIRT785372	hsa-miR-3140-3p	CLIP-seq
MIRT785373	hsa-miR-3646	CLIP-seq
MIRT785374	hsa-miR-3679-3p	CLIP-seq
MIRT785375	hsa-miR-4446-5p	CLIP-seq
MIRT785376	hsa-miR-4678	CLIP-seq
MIRT785377	hsa-miR-4795-3p	CLIP-seq
MIRT785378	hsa-miR-548m	CLIP-seq
MIRT785379	hsa-miR-599	CLIP-seq
MIRT785380	hsa-miR-636	CLIP-seq
MIRT785381	hsa-miR-3189-3p	CLIP-seq
MIRT785382	hsa-miR-3689a-3p	CLIP-seq
MIRT785383	hsa-miR-3689c	CLIP-seq
MIRT785384	hsa-miR-3975	CLIP-seq
MIRT785385	hsa-miR-4267	CLIP-seq
MIRT785386	hsa-miR-4448	CLIP-seq
MIRT785387	hsa-miR-4728-5p	CLIP-seq
MIRT785388	hsa-miR-550a	CLIP-seq
MIRT1931645	hsa-miR-3662	CLIP-seq
MIRT2475096	hsa-miR-10a	CLIP-seq
MIRT2475097	hsa-miR-10b	CLIP-seq
MIRT2475098	hsa-miR-339-5p	CLIP-seq
MIRT2475099	hsa-miR-3667-5p	CLIP-seq
MIRT2475100	hsa-miR-4421	CLIP-seq
MIRT2475101	hsa-miR-451b	CLIP-seq
MIRT2475102	hsa-miR-4696	CLIP-seq
MIRT2475103	hsa-miR-4725-5p	CLIP-seq
MIRT2475104	hsa-miR-504	CLIP-seq
MIRT2475096	hsa-miR-10a	CLIP-seq
MIRT2475097	hsa-miR-10b	CLIP-seq
MIRT2475098	hsa-miR-339-5p	CLIP-seq
MIRT2475099	hsa-miR-3667-5p	CLIP-seq
MIRT2475100	hsa-miR-4421	CLIP-seq
MIRT2475101	hsa-miR-451b	CLIP-seq
MIRT2475102	hsa-miR-4696	CLIP-seq
MIRT2475103	hsa-miR-4725-5p	CLIP-seq
MIRT2475104	hsa-miR-504	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0014069	Component	Postsynaptic density	IEA
GO:0015030	Component	Cajal body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0046875	Function	Ephrin receptor binding	IBA	21873635
GO:0046875	Function	Ephrin receptor binding	IPI	17875921
GO:0048013	Process	Ephrin receptor signaling pathway	IBA	21873635
GO:1900383	Process	Regulation of synaptic plasticity by receptor localization to synapse	IEA

Other IDs

• MIM: 607815
• HGNC: 24600
• e!Ensembl: ENSG00000185046

Protein

• UniProt ID: Q7Z6G8
• Protein name: Ankyrin repeat and sterile alpha motif domain-containing protein 1B (Amyloid-beta protein intracellular domain-associated protein 1) (AIDA-1) (E2A-PBX1-associated protein) (EB-1)
• Protein function: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.; Isoform 3 can regulate global protein synthesis by altering nucleolar numbers. {ECO:0000250, ECO:0000269|PubMe
• PDB: 2EAM, 2KE7, 2KIV, 2M38
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	7 → 125	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	114 → 189	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	185 → 256	Ankyrin repeats (3 copies)	Repeat
  PF00536	SAM_1	808 → 874	SAM domain (Sterile alpha motif)	Domain
  PF00536	SAM_1	882 → 946	SAM domain (Sterile alpha motif)	Domain
  PF00640	PID	1062 → 1192	Phosphotyrosine interaction domain (PTB/PID)	Domain

• Sequence:

  MGKDQELLEAARTGNVALVEKLLSGRKGGILGGGSGPLPLSNLLSIWRGPNVNCTDSSGY
  TALHHAALNGHKDIVLKLLQYEASTNVADNKGYFPIHLAAWKGDVEIVKILIHHGPSHSR
  VNEQNNENETALHCAAQYGHSEVVAVLLEELTDPTIRNSKLETPLDLAALYGRLRVVKMI
  ISAHPNLMSCNTRKHTPLHLAARNGHKAVVQVLLEAGMDVSCQTEKGSALHEAALFGKVD
  VVRVLLETGIDANIKDSLGRTVLDILKEHPSQKSLQIATLLQEYLEGVGRSTVLEEPVQE
  DATQETHISSPVESPSQKTKSETVTGELSKLLDEIKLCQEKDYSFEDLCHTISDHYLDNL
  SKISEEELGKNGSQSVRTSSTINLSPGEVEEEDDDENTCGPSGLWEALTPCNGCRNLGFP
  MLAQESYPKKRNYTMEIVPSASLDTFPSENENFLCDLMDTAVTKKPCSLEIARAPSPRTD
  NASEVAVTTPGTSNHRNSSTGPTPDCSPPSPDTALKNIVKVIRPQPKQRTSIVSSLDFHR
  MNHNQEYFEINTSTGCTSFTASPPASPPTSSVGTTEVKNEGTNHTDDLSRQDDNDPPKEY
  DPGQFAGLLHGSSPACESPENPFHLYGKREQCEKGQDEVSLANSPLPFKQSPIENNSEPL
  VKKIKPKVVSRTIFHKKSNQLENHTIVGTRSTRSGSRNGDQWVMNAGGFVERACTLGRIR
  SLPKALIDMHLSKSVSKSDSDLIAYPSNEKTSRVNWSESSTAEHSSKGNSERTPSFTSEW
  EEIDKIMSSIDVGINNELKEMNGETTRPRCPVQTVGQWLESIGLPQYENHLMANGFDNVQ
  FMGSNVMEDQDLLEIGILNSGHRQRILQAIQLLPKMRPIGHDGYHPTSVAEWLDSIELGD
  YTKAFLINGYTSMDLLKKIWEVELINVLKINLIGHRKRILASLGDRLHDDPPQKPPRSIT
  LREPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQM
  AQTGDWGEPSITLRPPNEATASTPVQYWQHHPEKLIFQSCDYKAFYLGSMLIKELRGTES
  TQDACAKMRANCQKSTEQMKKVPTIILSVSYKGVKFIDATNKNIIAEHEIRNISCAAQDP
  EDLSTFAYITKDLKSNHHYCHVFTAFDVNLAYEIILTLGQAFEVAYQLALQARKGGHSST
  LPESFENKPSKPIPKPRVSIRKSVDLLHASHTGQEPSERHTEEALRKF

• Sequence length: 1248

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Childhood asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	29551627
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26198764

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		31043756
Depressed bipolar disorder	Depressed bipolar I disorder		31043756
Heart failure	Heart failure	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	31113495
Hepatolenticular degeneration	Hepatolenticular Degeneration, Hepatic Form of Wilson Disease		23519153