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ACTN4 actinin alpha 4 [ Homo sapiens (human) ]

Gene ID: 81, updated on 9-Feb-2020

Summary

Official Symbol
ACTN4provided by HGNC
Official Full Name
actinin alpha 4provided by HGNC
Primary source
HGNC:HGNC:166
See related
Ensembl:ENSG00000130402 MIM:604638
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FSGS; FSGS1; ACTININ-4
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, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in placenta (RPKM 105.3), kidney (RPKM 104.8) and 25 other tissues See more
Orthologs

Genomic context

See ACTN4 in Genome Data Viewer
Location:
19q13.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (38647649..38731589)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39138256..39221336)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372397 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene eukaryotic translation initiation factor 3 subunit K Neighboring gene uncharacterized LOC107985291 Neighboring gene calpain 12 Neighboring gene galectin 7 Neighboring gene galectin 7B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Focal segmental glomerulosclerosis 1
MedGen: C4551527 OMIM: 603278 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF) PubMed
Vpr vpr HIV-1 Vpr upregulates ACTN4 in HeLa cells within 12 hours of exposure PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686K23158

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
actin binding TAS
Traceable Author Statement
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
actin filament binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
chromatin DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
integrin binding TAS
Traceable Author Statement
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear receptor transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleoside binding IDA
Inferred from Direct Assay
more info
PubMed 
protein N-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity TAS
Traceable Author Statement
more info
PubMed 
retinoic acid receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
actin filament bundle assembly IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction assembly IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cellular component movement IEA
Inferred from Electronic Annotation
more info
 
negative regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
peroxisome proliferator activated receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of NIK/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cellular component movement IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cellular component movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
positive regulation of pinocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of sodium:proton antiporter activity NAS
Non-traceable Author Statement
more info
PubMed 
protein localization to bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
regulation of nucleic acid-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
retinoic acid receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
vesicle transport along actin filament IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
brush border IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cortical cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoplasm HDA PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
focal adhesion HDA PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
pseudopodium TAS
Traceable Author Statement
more info
PubMed 
ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
stress fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
alpha-actinin-4
Names
focal segmental glomerulosclerosis 1
non-muscle alpha-actinin 4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007082.2 RefSeqGene

    Range
    4963..88903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001322033.2NP_001308962.1  alpha-actinin-4 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008649, AC022144, BM841805, HY048627, R66605
    Conserved Domains (5) summary
    COG5069
    Location:48311
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    COG5126
    Location:762866
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00176
    Location:414640
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:293403
    Spectrin; Spectrin repeat
    pfam08726
    Location:836902
    EFhand_Ca_insen; Ca2+ insensitive EF hand
  2. NM_004924.6NP_004915.2  alpha-actinin-4 isoform 1

    See identical proteins and their annotated locations for NP_004915.2

    Status: REVIEWED

    Source sequence(s)
    AC022144, BC005033, BM841805, HY048627, R66605
    Consensus CDS
    CCDS12518.1
    UniProtKB/Swiss-Prot
    O43707
    UniProtKB/TrEMBL
    A0A0S2Z3G9
    Related
    ENSP00000252699.2, ENST00000252699.7
    Conserved Domains (5) summary
    COG5069
    Location:48311
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:414640
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:293403
    Spectrin; Spectrin repeat
    pfam08726
    Location:841907
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl25352
    Location:759868
    EFh_PEF; The penta-EF hand (PEF) family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    38647649..38731589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027331.2XP_016882820.1  alpha-actinin-4 isoform X3

    Conserved Domains (5) summary
    COG5069
    Location:48311
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:414640
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:293403
    Spectrin; Spectrin repeat
    pfam08726
    Location:863929
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl25352
    Location:759890
    EFh_PEF; The penta-EF hand (PEF) family
  2. XM_006723406.3XP_006723469.1  alpha-actinin-4 isoform X1

    See identical proteins and their annotated locations for XP_006723469.1

    Conserved Domains (6) summary
    cd00014
    Location:164268
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00051
    Location:769836
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:414640
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:51149
    CH; Calponin homology (CH) domain
    pfam08726
    Location:841907
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:771835
    EF-hand_7; EF-hand domain pair
  3. XM_005259281.5XP_005259338.1  alpha-actinin-4 isoform X2

    See identical proteins and their annotated locations for XP_005259338.1

    Conserved Domains (5) summary
    COG5069
    Location:48311
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    COG5126
    Location:762866
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00176
    Location:414640
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:293403
    Spectrin; Spectrin repeat
    pfam08726
    Location:836902
    EFhand_Ca_insen; Ca2+ insensitive EF hand

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_014040929.1 Reference GRCh38.p13 PATCHES

    Range
    57285..141225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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