ACTN1 (actinin alpha 1)

Gene

• Entrez ID: 87
• Gene name: Actinin alpha 1
• Gene symbol: ACTN1
• Synonyms: BDPLT15
• Chromosome: 14
• Chromosome location: 14q24.1|14q22-q24
• Summary: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs372031019	G>A,C,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs387907345	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387907347	C>T	Pathogenic	Coding sequence variant, missense variant
rs387907348	C>T	Pathogenic	Coding sequence variant, missense variant
rs387907349	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387907350	C>T	Pathogenic	Coding sequence variant, missense variant
rs747559032	G>A	Pathogenic	Coding sequence variant, missense variant
rs751173836	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs867564562	G>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1555343284	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1594751659	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1594751825	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594751831	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594755688	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594756590	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594758038	->CTCCATGGCCCC	Likely-pathogenic	Inframe indel, coding sequence variant
rs1594758046	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594760036	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594760140	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594768463	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594771155	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594771224	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594771236	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1594771270	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594773549	G>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005004	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR	19890957
MIRT005004	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT016362	hsa-miR-193b-3p	Proteomics	21512034
MIRT023743	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT038768	hsa-miR-93-3p	CLASH	23622248
MIRT039867	hsa-miR-615-3p	CLASH	23622248
MIRT051157	hsa-miR-16-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IDA	11223950
GO:0001726	Component	Ruffle	IDA	11223950
GO:0002576	Process	Platelet degranulation	TAS
GO:0003725	Function	Double-stranded RNA binding	IDA	21266579
GO:0005178	Function	Integrin binding	IDA	7983147
GO:0005178	Function	Integrin binding	IPI	11223950
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10753915, 10793131, 11101506, 11110697, 12446711, 14623081, 16189514, 16291744, 16464232, 18560563, 20120020, 25416956, 25910212, 26496610, 26871637, 30021884, 31515488, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	IDA	16464232, 23434115
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	IDA	23434115, 24069336
GO:0005886	Component	Plasma membrane	IEA
GO:0005903	Component	Brush border	IEA
GO:0005911	Component	Cell-cell junction	IDA	11223950
GO:0005916	Component	Fascia adherens	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IDA	11223950
GO:0005925	Component	Focal adhesion	IMP	16807302
GO:0007015	Process	Actin filament organization	IMP	23434115
GO:0017166	Function	Vinculin binding	IDA	11223950
GO:0017166	Function	Vinculin binding	IPI	15988023
GO:0030018	Component	Z disc	IDA	7750553
GO:0030168	Process	Platelet activation	IMP	24069336
GO:0030220	Process	Platelet formation	IMP	23434115
GO:0030374	Function	Nuclear receptor coactivator activity	IDA	22351778
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031143	Component	Pseudopodium	TAS	1629252
GO:0036344	Process	Platelet morphogenesis	IMP	23434115, 24069336
GO:0042803	Function	Protein homodimerization activity	IDA	11223950
GO:0042981	Process	Regulation of apoptotic process	NAS	16807302
GO:0042995	Component	Cell projection	IDA	16464232
GO:0044325	Function	Ion channel binding	IPI	17944866, 19943616
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA
GO:0048041	Process	Focal adhesion assembly	IMP	16807302
GO:0051015	Function	Actin filament binding	IDA	11223950
GO:0051017	Process	Actin filament bundle assembly	IEA
GO:0051271	Process	Negative regulation of cellular component movement	IMP	7983147
GO:0051639	Process	Actin filament network formation	IMP	24069336
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 21362503, 23533145
GO:0070527	Process	Platelet aggregation	IMP	23434115
GO:0098978	Component	Glutamatergic synapse	IDA	29429936
GO:0098978	Component	Glutamatergic synapse	IMP	29429936
GO:0099173	Process	Postsynapse organization	IEA
GO:0099186	Function	Structural constituent of postsynapse	IDA	29429936
GO:0099186	Function	Structural constituent of postsynapse	IMP	29429936

Other IDs

• MIM: 102575
• HGNC: 163
• e!Ensembl: ENSG00000072110

Protein

• UniProt ID: P12814
• Protein name: Alpha-actinin-1 (Alpha-actinin cytoskeletal isoform) (F-actin cross-linking protein) (Non-muscle alpha-actinin-1)
• Protein function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
• PDB: 2EYI, 2EYN, 2N8Y, 2N8Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	31 → 136	Calponin homology (CH) domain	Domain
  PF00307	CH	144 → 251	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	274 → 384	Spectrin repeat	Domain
  PF00435	Spectrin	394 → 499	Spectrin repeat	Domain
  PF00435	Spectrin	509 → 620	Spectrin repeat	Domain
  PF00435	Spectrin	630 → 733	Spectrin repeat	Domain
  PF08726	EFhand_Ca_insen	822 → 888	Ca2+ insensitive EF hand	Domain

• Sequence:

  MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFR
  DGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNV
  KMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFC
  ALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMT
  YVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENR
  VPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRM
  VSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQK
  DYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKIC
  DQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHT
  IEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEI
  NGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEM
  HGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQL
  LTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGY
  DIGNDPQGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDK
  NYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL

• Sequence length: 892