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ACTN4 actinin alpha 4 [ Homo sapiens (human) ]

Gene ID: 81, updated on 5-May-2024

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; AllianceGenome:HGNC:166
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
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Genomic context

See ACTN4 in Genome Data Viewer
Location:
19q13.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38647649..38731589)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41451629..41535643)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39138289..39222229)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39087374-39087874 Neighboring gene MAP4K1 antisense RNA 1 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39098110-39098610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39098611-39099111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39103339-39103839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14579 Neighboring gene NANOG hESC enhancer GRCh37_chr19:39112860-39113720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39114367-39114868 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:39121815-39122606 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:39122654-39123853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39125282-39126240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39127485-39128424 Neighboring gene eukaryotic translation initiation factor 3 subunit K Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39130305-39131243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10579 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39139812-39140010 Neighboring gene Sharpr-MPRA regulatory region 11915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39142765-39143374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39143375-39143983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39144522-39145390 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:39145391-39146259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39148471-39149116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39150898-39151588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39155729-39156418 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39156419-39157108 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39157109-39157798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14587 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39168839-39169424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39173979-39174762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39184359-39184950 Neighboring gene uncharacterized LOC107985291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39193145-39193645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39195255-39196024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39198444-39199230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39208396-39209241 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39209276-39209996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39217269-39218152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14592 Neighboring gene uncharacterized LOC124904711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14593 Neighboring gene calpain 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10583 Neighboring gene galectin 7

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

EBI GWAS Catalog

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

Clone Names

  • DKFZp686K23158

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin binding TAS
Traceable Author Statement
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables integrin binding TAS
Traceable Author Statement
more info
PubMed 
enables nuclear receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables nuclear receptor coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables nuclear retinoic acid receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables nucleoside binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
 
colocalizes_with actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cell junction IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm HDA PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in extracellular space HDA PubMed 
located_in focal adhesion HDA PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
is_active_in postsynaptic actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynaptic actin cytoskeleton IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in pseudopodium TAS
Traceable Author Statement
more info
PubMed 
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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
    Consensus CDS
    CCDS92611.1
    UniProtKB/TrEMBL
    A0A8V8TL71, H7C144
    Related
    ENSP00000398393.2, ENST00000440400.3
    Conserved Domains (5) summary
    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; ...
    pfam08726
    Location:836902
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cd21214
    Location:47151
    CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
    cd21216
    Location:155269
    CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family
  2. NM_001411143.1NP_001398072.1  alpha-actinin-4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008649, AC022144
    Consensus CDS
    CCDS92610.1
    UniProtKB/TrEMBL
    F5GXS2
    Related
    ENSP00000411187.4, ENST00000424234.7
  3. 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
    A4K467, D6PXK4, O43707, O76048
    UniProtKB/TrEMBL
    A0A0S2Z3G9, A0A8V8TL71
    Related
    ENSP00000252699.2, ENST00000252699.7
    Conserved Domains (5) summary
    PTZ00184
    Location:759868
    PTZ00184; calmodulin; Provisional
    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; ...
    pfam08726
    Location:841907
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cd21214
    Location:47151
    CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
    cd21216
    Location:155269
    CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017027331.3XP_016882820.1  alpha-actinin-4 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TL71
    Conserved Domains (5) summary
    PTZ00184
    Location:759890
    PTZ00184; calmodulin; Provisional
    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; ...
    pfam08726
    Location:863929
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cd21214
    Location:47151
    CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
    cd21216
    Location:155269
    CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family
  2. XM_005259281.6XP_005259338.1  alpha-actinin-4 isoform X1

    See identical proteins and their annotated locations for XP_005259338.1

    UniProtKB/TrEMBL
    A0A8V8TL71
    Conserved Domains (5) summary
    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; ...
    pfam08726
    Location:836902
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cd21214
    Location:47151
    CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
    cd21216
    Location:155269
    CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_014040929.1 Reference GRCh38.p14 PATCHES

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

mRNA and Protein(s)

  1. XM_054331975.1XP_054187950.1  alpha-actinin-4 isoform X2

  2. XM_054331974.1XP_054187949.1  alpha-actinin-4 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    41451629..41535643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322244.1XP_054178219.1  alpha-actinin-4 isoform X2

  2. XM_054322243.1XP_054178218.1  alpha-actinin-4 isoform X1