The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migrati... See more...

Aliases for ACTL7A Gene

Aliases for ACTL7A Gene

  • Actin Like 7A 2 3 5
  • Actin-Like Protein 7A 3 4
  • Testicular Secretory Protein Li 3 3
  • Actin-Like 7-Alpha 3
  • Actin-Like-7-Alpha 4

External Ids for ACTL7A Gene

Previous GeneCards Identifiers for ACTL7A Gene

  • GC09P102422
  • GC09P103356
  • GC09P105082
  • GC09P107004
  • GC09P108704
  • GC09P110664
  • GC09P111624
  • GC09P081224

Summaries for ACTL7A Gene

Entrez Gene Summary for ACTL7A Gene

  • The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTL7A Gene

ACTL7A (Actin Like 7A) is a Protein Coding gene. Diseases associated with ACTL7A include Dysautonomia and Hypertensive Nephropathy. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is ACTL7B.

Gene Wiki entry for ACTL7A Gene

Additional gene information for ACTL7A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTL7A Gene

Genomics for ACTL7A Gene

GeneHancer (GH) Regulatory Elements for ACTL7A Gene

Promoters and enhancers for ACTL7A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J108863 Enhancer 0.4 Ensembl 510.6 +1.9 1873 1.4 POLR2G CTCF AGO2 CTCFL POLR2A ACTL7A ELP1 piR-37663-064
GH09J108883 Enhancer 1.1 Ensembl ENCODE 12.3 +24.2 24191 8.1 EP300 FOXK2 ZBTB40 CTCF TCF12 POLR2G NCOR1 KDM6A TCF7 FOXA1 CTNNAL1 ELP1 FRRS1L ACTL7A ACTL7B ABITRAM EPB41L4B TMEM245 ENSG00000213557 NONHSAG053162.2
GH09J108834 Enhancer 0.8 Ensembl ENCODE 12.4 -25.4 -25438 4.8 USF1 TEAD1 CTCF GABPA FOS CEBPB FOSL1 TAL1 JUND HLF LOC100288416 lnc-ACTL7A-3 ACTL7A RF00017-7799
GH09J108776 Enhancer 0.8 Ensembl ENCODE 10.6 -85.1 -85078 1.3 CTCF POLR2G HES1 RUNX1 FOXA2 NFIC SCRT1 RAD21 NFIA KDM1A ACTL7B ACTL7A HSALNG0073579 RPL36AP35 lnc-ACTL7A-4
GH09J108815 Enhancer 0.7 FANTOM5 11.1 -46.1 -46082 0.3 POLR2G TCF7 SRSF1 SPI1 ZFHX2 CREM EGR1 ETV4 NFIL3 ZFP36 ACTL7A lnc-ACTL7A-4 RPL36AP35 HSALNG0073579
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTL7A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTL7A

Top Transcription factor binding sites by QIAGEN in the ACTL7A gene promoter:
  • ATF-2
  • CRE-BP1
  • E2F
  • E2F-1
  • HEN1
  • HNF-1
  • HNF-1A
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx2-5

Genomic Locations for ACTL7A Gene

Genomic Locations for ACTL7A Gene
chr9:108,862,228-108,863,756
(GRCh38/hg38)
Size:
1,529 bases
Orientation:
Plus strand
chr9:111,624,603-111,626,035
(GRCh37/hg19)
Size:
1,433 bases
Orientation:
Plus strand

Genomic View for ACTL7A Gene

Genes around ACTL7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTL7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTL7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTL7A Gene

Proteins for ACTL7A Gene

  • Protein details for ACTL7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y615-ACL7A_HUMAN
    Recommended name:
    Actin-like protein 7A
    Protein Accession:
    Q9Y615
    Secondary Accessions:
    • B2RC83
    • Q5JSV0

    Protein attributes for ACTL7A Gene

    Size:
    435 amino acids
    Molecular mass:
    48644 Da
    Quaternary structure:
    • Interacts (via N-terminus) with TES (via LIM domain 2). Heterodimer with TES; the heterodimer interacts with ENAH to form a heterotrimer.

    Three dimensional structures from OCA and Proteopedia for ACTL7A Gene

neXtProt entry for ACTL7A Gene

Post-translational modifications for ACTL7A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTL7A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTL7A Gene

Domains & Families for ACTL7A Gene

Gene Families for ACTL7A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ACTL7A Gene

Blocks:
  • Actin/actin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACTL7A Gene

GenScript: Design optimal peptide antigens:
  • Actin-like-7-alpha (ACL7A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y615

UniProtKB/Swiss-Prot:

ACL7A_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTL7A: view

Function for ACTL7A Gene

Molecular function for ACTL7A Gene

GENATLAS Biochemistry:
actin-like 7A,isolated from the HSAN3 region,widely expressed,mouse Arp7a ortholog,ARP (actin related proteins) superfamily

Phenotypes From GWAS Catalog for ACTL7A Gene

Gene Ontology (GO) - Molecular Function for ACTL7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 10373328
GO:0005515 protein binding IPI 21278383
genes like me logo Genes that share ontologies with ACTL7A: view
genes like me logo Genes that share phenotypes with ACTL7A: view

Animal Model Products

CRISPR Products

miRNA for ACTL7A Gene

miRTarBase miRNAs that target ACTL7A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL7A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACTL7A Gene

Localization for ACTL7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTL7A Gene

Cytoplasm, cytoskeleton. Golgi apparatus. Cytoplasm. Nucleus. Note=Detected at the Golgi apparatus during acrosome biogenesis. Detected at the subacrosomal layer in round spermatids. Detected in sperm head and tail. {ECO:0000250 UniProtKB:Q9QY84}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTL7A gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 3
golgi apparatus 3
extracellular 0
mitochondrion 0

Gene Ontology (GO) - Cellular Components for ACTL7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001673 male germ cell nucleus IEA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm ISS,IBA --
GO:0005794 colocalizes_with Golgi apparatus ISS --
GO:0005856 cytoskeleton TAS 10373328
genes like me logo Genes that share ontologies with ACTL7A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTL7A Gene

Pathways & Interactions for ACTL7A Gene

PathCards logo

SuperPathways for ACTL7A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACTL7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with ACTL7A: view

No data available for Pathways by source and SIGNOR curated interactions for ACTL7A Gene

Drugs & Compounds for ACTL7A Gene

No Compound Related Data Available

Transcripts for ACTL7A Gene

mRNA/cDNA for ACTL7A Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL7A

Alternative Splicing Database (ASD) splice patterns (SP) for ACTL7A Gene

No ASD Table

Relevant External Links for ACTL7A Gene

GeneLoc Exon Structure for
ACTL7A

Expression for ACTL7A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTL7A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTL7A Gene

This gene is overexpressed in Testis (x52.5).

Protein differential expression in normal tissues from HIPED for ACTL7A Gene

This gene is overexpressed in Testis (53.0) and Ovary (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACTL7A Gene



Protein tissue co-expression partners for ACTL7A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTL7A

SOURCE GeneReport for Unigene cluster for ACTL7A Gene:

Hs.123530

mRNA Expression by UniProt/SwissProt for ACTL7A Gene:

Q9Y615-ACL7A_HUMAN
Tissue specificity: Strongly expressed in testis. Also expressed in other tissues.

Evidence on tissue expression from TISSUES for ACTL7A Gene

  • Blood(4)
genes like me logo Genes that share expression patterns with ACTL7A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTL7A Gene

Orthologs for ACTL7A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACTL7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACTL7A 31 30
  • 99.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACTL7A 31 30
  • 87.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACTL7A 31 30
  • 86.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Actl7a 30
  • 84.67 (n)
mouse
(Mus musculus)
Mammalia Actl7a 17 31 30
  • 83.98 (n)
oppossum
(Monodelphis domestica)
Mammalia ACTL7A 31
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTL7A 31
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:101810 31
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP2 31
  • 30 (a)
OneToMany
Species where no ortholog for ACTL7A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACTL7A Gene

ENSEMBL:
Gene Tree for ACTL7A (if available)
TreeFam:
Gene Tree for ACTL7A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTL7A: view image

Paralogs for ACTL7A Gene

(23) SIMAP similar genes for ACTL7A Gene using alignment to 1 proteins:

  • ACL7A_HUMAN
genes like me logo Genes that share paralogs with ACTL7A: view

Variants for ACTL7A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTL7A Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs35995497 - p.Ala161Pro
rs368653764 - p.Arg45Cys
rs56031956 - p.Leu343Val
rs7872077 - p.Val340Met

Additional dbSNP identifiers (rs#s) for ACTL7A Gene

Structural Variations from Database of Genomic Variants (DGV) for ACTL7A Gene

Variant ID Type Subtype PubMed ID
nsv6659 CNV insertion 18451855

Variation tolerance for ACTL7A Gene

Residual Variation Intolerance Score: 55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.88; 67.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTL7A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTL7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTL7A Gene

Disorders for ACTL7A Gene

MalaCards: The human disease database

(2) MalaCards diseases for ACTL7A Gene - From: GeneCards

Disorder Aliases PubMed IDs
dysautonomia
hypertensive nephropathy
  • hnp1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ACTL7A

genes like me logo Genes that share disorders with ACTL7A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACTL7A Gene

Publications for ACTL7A Gene

  1. Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. (PMID: 10373328) Chadwick BP … Slaugenhaupt SA (Genomics 1999) 2 3 4 23 54
  2. Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A. (PMID: 21278383) Boëda B … Way M (The Journal of biological chemistry 2011) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 54
  5. Anti-ACTL7a antibodies: a cause of infertility. (PMID: 22386842) Fu J … Wang L (Fertility and sterility 2012) 3 54

Products for ACTL7A Gene

Sources for ACTL7A Gene