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ACTL7A Gene

protein-coding   GIFtS: 53
GCID: GC09P111624

Actin-Like 7A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Actin-Like 7A1 2
Actin-Like 7-Alpha2
Actin-Like Protein 7A2
actin-like-7-alpha2
Actin-like-7-alpha3

External Ids:    HGNC: 1611   Entrez Gene: 108812   Ensembl: ENSG000001870037   OMIM: 6043035   UniProtKB: Q9Y6153   

Export aliases for ACTL7A gene to outside databases

Previous GC identifers: GC09P102422 GC09P103356 GC09P105082 GC09P107004 GC09P108704 GC09P110664 GC09P081224


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 riley-day syndrome, and hypertensive nephropathy. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is ACTL8.

Gene Wiki entry for ACTL7A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTL7A gene promoter:
         ATF-2   HNF-4alpha2   Nkx2-5   HNF-4alpha1   HNF-1A   HEN1   CRE-BP1   E2F-1   E2F   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTL7A promoter sequence
   Search Chromatin IP Primers for ACTL7A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTL7A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q31   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31

ACTL7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTL7A gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P111624:  view genomic region     (about GC identifiers)

Start:
111,624,603 bp from pter      End:
111,626,035 bp from pter
Size:
1,433 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ACL7A_HUMAN, Q9Y615 (See protein sequence)
Recommended Name: Actin-like protein 7A  
Size: 435 amino acids; 48644 Da
Subunit: Interacts (via N-terminus) with TES (via LIM domain 2). Heterodimer with TES; the heterodimer interacts
with ENAH to form a heterotrimer
1 PDB 3D structure from and Proteopedia for ACTL7A:
2XQN (3D)    
Secondary accessions: B2RC83 Q5JSV0

Explore the universe of human proteins at neXtProt for ACTL7A: NX_Q9Y615

Explore proteomics data for ACTL7A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ACTL7A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006678.1  
    ENSEMBL proteins: 
     ENSP00000334300  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027679 ACTL7A
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry Q9Y615

    ProtoNet protein and cluster: Q9Y615

    1 Blocks protein domain: IPB004000 Actin/actin-like

    UniProtKB/Swiss-Prot: ACL7A_HUMAN, Q9Y615
    Similarity: Belongs to the actin family


    ACTL7A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for ACTL7A:
    actin-like 7A,isolated from the HSAN3 region,widely expressed,mouse Arp7a ortholog,ARP (actin related proteins)
    superfamily

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS10373328
    GO:0005515protein binding ----
         
    ACTL7A for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    hsa-mir-335-5p (MIRT019146)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACL7A_HUMAN, Q9Y615: Cytoplasm, cytoskeleton (By similarity). Golgi apparatus (By similarity). Cytoplasm (By
    similarity). Nucleus (By similarity). Note=Detected at the Golgi apparatus during acrosome biogenesis. Detected
    at the subacrosomal layer in round spermatids. Detected in sperm head and tail (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    nucleus3
    golgi apparatus2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001673male germ cell nucleus IEA--
    GO:0005737cytoplasm ISS--
    GO:0005794colocalizes with Golgi apparatus ISS--
    GO:0005856cytoskeleton IEA--
    GO:0031514motile cilium IEA--

    ACTL7A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACTL7A
    Interactions:

        Search GeneGlobe Interaction Network for ACTL7A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for ACTL7A (Q9Y6153 ENSP000003343004) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TESQ9UGI83, ENSP000003509374I2D: score=2 STRING: ENSP00000350937
    SOCS6O145443I2D: score=1 
    ENAHENSP000003558094STRING: ENSP00000355809
    HDAC3ENSP000003029674STRING: ENSP00000302967
    ZNHIT1ENSP000003045934STRING: ENSP00000304593
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACTL7A (ACL7A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACTL7A gene: 
    NM_006687.3  

    Unigene Cluster for ACTL7A:

    Actin-like 7A
    Hs.123530  [show with all ESTs]
    Unigene Representative Sequence: BC014610
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000333999(uc004bdj.1)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ACTL7A
      QuantiFast Probe-based Assays in human, mouse, rat ACTL7A

    Additional mRNA sequence: 

    AK314981.1 BC014610.2 

    1 DOTS entry:

    DT.400889 

    Selected AceView cDNA sequences (see all 33):

    BI825202 BI520321 BI829355 CD244092 NM_006687 BP368906 BP369637 BP369587 
    BG700472 BI520420 BI458661 BX088905 BG771704 AI220421 BP369100 AI954673 
    BP370225 BC014610 BI828858 BI459224 BP370047 BG771611 BI460678 BI829897 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACTL7A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCCCAATG
    ACTL7A Expression
    About this image


    ACTL7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
    ACTL7A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTL7A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.123530

    UniProtKB/Swiss-Prot: ACL7A_HUMAN, Q9Y615
    Tissue specificity: Strongly expressed in testis. Also expressed in other tissues

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ACTL7A gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actl7a1 , 5 actin-like 7a1, 5 83.98(n)1
    85.98(a)1
      4 (31.66 cM)5
    114701  NM_009611.31  NP_033741.11 
     567434135 
    lizard
    (Anolis carolinensis)
    Reptilia ACTL7A6
    actin-like 7A
    67(a)
    1 ↔ 1
    GL343257.1(70236-71351)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1018106
    zgc:101810
    32(a)
    many ↔ many
    7(8207283-8226398) ENSDARG00000004658
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARP26
    Essential component of the Arp2/3 complex, which i...
    30(a)
    1 → many
    IV(399340-400638) YDL029W


    ENSEMBL Gene Tree for ACTL7A (if available)
    TreeFam Gene Tree for ACTL7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTL7A gene
    ACTL82  ACTL7B2  ACTL92  ACTR22  ACTL102  
    Selected SIMAP similar genes for ACTL7A using alignment to 1 protein entry:     ACL7A_HUMAN(see all similar genes):
    ACTL7B    ACTL9    PS1TP5BP1    ACTG1    ACTBL2    ACTC1
    ACTG2    POTEE    POTEF    POTEI    POTEJ    POTEKP
    POTEM    ACTA2    ACTB    ACTRT2    ACTR1A    ACTR1B

    ACTL7A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACTL7A (see all 166)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105574221,2
    C--111623134(+) ATAGT-/CACCACAA 1 -- us2k1 tfbs31Minor allele frequency- CAC:0.00NA 2
    rs1170848611,2
    F--111631548(+) AGCCCT/AGAAAG 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1144440131,2
    C,F--111631602(+) CTCCAA/CAATAG 1 -- us2k11Minor allele frequency- C:0.07WA 118
    rs1906619461,2
    --111631754(+) GTAGGA/GTTTGG 1 -- us2k10--------
    rs49783691,2
    C,F,A,H--111631831(+) AAAGTG/CAAACA 1 -- us2k111Minor allele frequency- C:0.37NA WA CSA EA 378
    rs49787441,2
    C,F,A,H--111631838(+) AACAAC/TCTGAG 1 -- us2k110Minor allele frequency- T:0.37NA WA CSA EA 376
    rs1175163501,2
    C,F--111631851(+) GCCCAC/TGCAAA 1 -- us2k11Minor allele frequency- T:0.03EA 120
    rs117941271,2
    C,F,H--111631866(+) TGAACG/AGCAGA 1 -- us2k116Minor allele frequency- A:0.05NS EA NA 1804
    rs1392321301,2
    --111631898(+) GCAGCA/CAGGCA 1 -- us2k10--------
    rs49787451,2
    C,F,A,H--111631943(+) CATGCC/TATTAT 1 -- us2k123Minor allele frequency- T:0.40NS EA NA WA CSA 2354

    HapMap Linkage Disequilibrium report for ACTL7A (111624603 - 111626035 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ACTL7A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6659CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTL7A
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604303    OMIM disorders: --

    7 diseases for ACTL7A:    
    About MalaCards
    riley-day syndrome    hypertensive nephropathy    dysautonomia    male infertility
    infertility    hypertension    breast cancer

    1 disease from the University of Copenhagen DISEASES database for ACTL7A:
    Riley-Day syndrome

    ACTL7A for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: ACTL7A (1 document)

    Export disorders for ACTL7A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACTL7A gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with ACTL7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10373328)1, 2, 3, 9 Chadwick B.P.... Slaugenhaupt S.A. (Genomics 1999)
    2. Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A. (PubMed id 21278383)1, 2 Boeda B.... Way M. (J. Biol. Chem. 2011)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Anti-ACTL7a antibodies: a cause of infertility. (PubMed id 22386842)1 Fu J....Wang L. (Fertil. Steril. 2012)
    6. Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. (PubMed id 21263130)1 Fletcher O....Peto J. (J. Natl. Cancer Inst. 2011)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. Applying novel genome-wide linkage strategies to search for loci influencing type 2 diabetes and adult height in American Samoa. (PubMed id 18720898)1 Aberg K....Weeks D.E. (Hum. Biol. 2008)
    9. Single nucleotide polymorphisms: discovery of the genetic causes of male infertility. (PubMed id 17644991)2 Tanaka H.... Nishimune Y. (Soc. Reprod. Fertil. Suppl. 2007)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10881 HGNC: 161 AceView: ACTL7A Ensembl:ENSG00000187003 euGenes: HUgn10881
    ECgene: ACTL7A H-InvDB: ACTL7A

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACTL7A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACTL7A gene:
    Search GeneIP for patents involving ACTL7A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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