• Gene id: 87

Gene Summary

• Gene Symbol: ACTN1   Gene   UCSC   Ensembl
• Aliases: BDPLT15
• Gene name: actinin alpha 1
• Alternate names: alpha-actinin-1, F-actin cross-linking protein, actinin 1 smooth muscle, alpha-actinin cytoskeletal isoform, epididymis secretory sperm binding protein, non-muscle alpha-actinin-1,
• Gene location: 14q22-q24 (68979301: 68874122)     Exons: 23     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 102575

SNPs

rs587777427

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.26293530C>A
NC_000018.10   g.26293530C>T
NC_000018.9   g.23873494C>A
NC_000018.9   g.23873494C>T
NG_034162.1   g.71648C>A
NG_034162.1   g.71648C>T
NM_005640.3   c.1831C>A
NM_005640.3   c.1831C>T
NM_005640.2   c.1831C>A
NM_005640.2   c.1831C>T
NM_005640.  

rs397515339

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs267607227

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

rs200693106

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.21702773C>A
NC_000007.14   g.21702773C>T
NC_000007.13   g.21742391C>A
NC_000007.13   g.21742391C>T
NG_012886.2   g.164559C>A
NG_012886.2   g.164559C>T
NM_001277115.2   c.6244C>A
NM_001277115.2   c.6244C>T
NM_001277115.1   c.6244C>A
NM_001277115.1   c.62

rs121908855

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.21880869C>G
NC_000007.13   g.21920487C>G
NG_012886.2   g.342655C>G
NM_001277115.2   c.12363C>G
NM_001277115.1   c.12363C>G
NP_001264044.1   p.Tyr4121Ter|SEQ=[C/G]|GENE=DNAH11

rs121908854

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.21748602C>A
NC_000007.14   g.21748602C>G
NC_000007.14   g.21748602C>T
NC_000007.13   g.21788220C>A
NC_000007.13   g.21788220C>G
NC_000007.13   g.21788220C>T
NG_012886.2   g.210388C>A
NG_012886.2   g.210388C>G
NG_012886.2   g.210388C>T
NM_001277115.2   c

rs17840762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs7867029

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.78405502G>C
NC_000009.11   g.81020418G>C|SEQ=[G/C]|GENE=LOC107987083

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs757230

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102132A>G
NC_000019.9   g.1102131A>G
NG_050621.1   g.3207A>G|SEQ=[A/G]|GENE=GPX4

rs757229

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102115G>A
NC_000019.10   g.1102115G>C
NC_000019.10   g.1102115G>T
NC_000019.9   g.1102114G>A
NC_000019.9   g.1102114G>C
NC_000019.9   g.1102114G>T
NG_050621.1   g.3190G>A
NG_050621.1   g.3190G>C
NG_050621.1   g.3190G>T|SEQ=[G/A/C/T]|GENE=GPX4

rs222859

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7294475C>A
NC_000017.10   g.7197794C>A
NM_015982.4   c.26G>T
NM_015982.3   c.26G>T
XM_017024713.2   c.26G>T
NP_057066.2   p.Gly9Val
XP_016880202.1   p.Gly9Val|SEQ=[C/A]|GENE=YBX2

rs10214930

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27745330G>A
NC_000007.13   g.27784949G>A
NG_029523.1   g.10958G>A|SEQ=[G/A]|GENE=TAX1BP1

rs1677016

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.26293499T>A
NC_000018.10   g.26293499T>C
NC_000018.10   g.26293499T>G
NC_000018.9   g.23873463T>A
NC_000018.9   g.23873463T>C
NC_000018.9   g.23873463T>G
NG_034162.1   g.71617T>A
NG_034162.1   g.71617T>C
NG_034162.1   g.71617T>G
NM_005640.3   c.1800T>A
  

rs605059

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs4588110

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102140A>C
NC_000019.10   g.1102140A>G
NC_000019.10   g.1102140A>T
NC_000019.9   g.1102139A>C
NC_000019.9   g.1102139A>G
NC_000019.9   g.1102139A>T
NG_050621.1   g.3215A>C
NG_050621.1   g.3215A>G
NG_050621.1   g.3215A>T|SEQ=[A/C/G/T]|GENE=GPX4

rs3746165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102212A>G
NC_000019.10   g.1102212A>T
NC_000019.9   g.1102211A>G
NC_000019.9   g.1102211A>T
NG_050621.1   g.3287A>G
NG_050621.1   g.3287A>T|SEQ=[A/G/T]|GENE=GPX4

rs3746166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102176C>T
NC_000019.9   g.1102175C>T
NG_050621.1   g.3251C>T|SEQ=[C/T]|GENE=GPX4

Protein Summary

• Protein general information: P12814  
  • Name: Alpha actinin 1 (Alpha actinin cytoskeletal isoform) (F actin cross linking protein) (Non muscle alpha actinin 1)
  • Length: 892  
  • Mass: 103058
• Sequence:

  MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGE
  RLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGL
  LLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAE
  DIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENR
  VPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVE
  KGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDR
  VEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWM
  EGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEI
  NGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYE
  KSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNE
  FRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDT
  ADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL

• Structural information:
  • Protein Domains: (31..13-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (144..25-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (746..78-)
    (/note="EF-hand-1)
    (/evidence="E-)
  • Interpro: IPR001589  IPR026921  IPR001715  IPR036872  IPR011992   IPR014837  IPR018247  IPR002048  IPR018159  IPR002017  
  • Prosite: PS00019 PS00020 PS50021 PS00018 PS50222
  • CDD: cd00014 cd00051
  • PDB: 2EYI 2EYN 2N8Y 2N8Z
  • PDBsum: 2EYI 2EYN 2N8Y 2N8Z
  • DIP: 33184
  • STRING: ENSP00000377941
• Other Databases: GeneCards:  ACTN1  Malacards:  ACTN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030374	nuclear receptor transcription coactivator activity	IDA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0051764	actin crosslink formation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0001726	ruffle	IEA	cellular component
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0017166	vinculin binding	IEA	molecular function
GO:0005916	fascia adherens	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0005178	integrin binding	IEA	molecular function
GO:0001725	stress fiber	IEA	cellular component
GO:0044325	ion channel binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0099173	postsynapse organization	IEA	biological process
GO:0099173	postsynapse organization	IEA	biological process
GO:0099173	postsynapse organization	IEA	biological process
GO:0099173	postsynapse organization	IEA	biological process
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0005884	actin filament	IDA	colocalizes with
GO:0005737	cytoplasm	IDA	cellular component
GO:0005884	actin filament	IDA	colocalizes with
GO:0042995	cell projection	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005178	integrin binding	IDA	molecular function
GO:0017166	vinculin binding	IDA	molecular function
GO:0001726	ruffle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030168	platelet activation	IMP	NOT|biological process
GO:0070527	platelet aggregation	IMP	NOT|biological process
GO:0051639	actin filament network formation	IMP	biological process
GO:0036344	platelet morphogenesis	IMP	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0030220	platelet formation	IMP	biological process
GO:0007015	actin filament organization	IMP	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0036344	platelet morphogenesis	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051271	negative regulation of cellular component movement	IMP	biological process
GO:0031143	pseudopodium	TAS	cellular component
GO:0017166	vinculin binding	IPI	molecular function
GO:0005925	focal adhesion	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005178	integrin binding	IPI	molecular function
GO:0048041	focal adhesion assembly	IMP	biological process
GO:0042981	regulation of apoptotic process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030018	Z disc	IDA	cellular component
GO:0099186	structural constituent of postsynapse	IDA	molecular function
GO:0099186	structural constituent of postsynapse	IMP	molecular function
GO:0099186	structural constituent of postsynapse	IMP	molecular function
GO:0099186	structural constituent of postsynapse	IDA	molecular function
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa05203	Viral carcinogenesis
hsa04530	Tight junction
hsa05322	Systemic lupus erythematosus
hsa04670	Leukocyte transendothelial migration
hsa05146	Amoebiasis
hsa04520	Adherens junction

Diseases

Associated diseases	References
Macrothrombocytopenia	KEGG:H01740
Macrothrombocytopenia	KEGG:H01740
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq