ACTL7A Gene
protein-coding GIFtS: 50
GCID: GC09P111624
|
|
actin-like 7A
| |
Aliases
for ACTL7A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Actin-Like 7A1 2 | | Actin-Like 7-Alpha2 | | Actin-Like Protein 7A2 | | Actin-Like-7-Alpha1 | | Actin-Like-7-Alpha1 |
Export aliases for ACTL7A gene to outside databasesPrevious GC identifers: GC09P102422 GC09P103356 GC09P105082 GC09P107004 GC09P108704 GC09P110664 GC09P081224 |
Summaries
for ACTL7A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ACTL7A:
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant aminoacid 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, spindleorientation, 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 candidateregion on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded thatit is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety ofadult tissues, however, its exact function is not known. (provided by RefSeq, Jul 2008)
Gene Wiki entry for ACTL7A
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008470.19
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for ACTL7A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 9q31ACTL7A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
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Proteins
for ACTL7A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 withENAH to form a heterotrimer
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Golgi apparatus (By similarity). Cytoplasm (Bysimilarity). Nucleus (By similarity). Note=Detected at the Golgi apparatus during acrosome biogenesis. Detected at thesubacrosomal layer in round spermatids. Detected in sperm head and tail (By similarity)
1 PDB 3D structure from  and Proteopedia  for ACTL7A:2XQN (3D)
Secondary accessions: B2RC83 Q5JSV0Explore the universe of human proteins at neXtProt for ACTL7A: NX_Q9Y615
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y615
ACTL7A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_006678.1
ENSEMBL proteins: ENSP00000334300
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
ACTL7A for ontologies About GeneDecksing
ACTL7A Antibody Products:
Assay Products for ACTL7A: |
Protein
Domains /
Families
for ACTL7A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ACTL7A for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9Y615ProtoNet protein and cluster: Q9Y615 1 Blocks protein family: IPB004000 Actin/actin-like
UniProtKB/Swiss-Prot: ACL7A_HUMAN, Q9Y615Similarity: Belongs to the actin family |
Function
for ACTL7A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
Genatlas biochemistry entry for ACTL7A:actin-like 7A,isolated from the HSAN3 region,widely expressed,mouse Arp7a ortholog,ARP (actin related proteins)superfamily
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACTL7A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACTL7A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTL7A |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005200 | structural constituent of cytoskeleton |
TAS | 10373328 |
ACTL7A for ontologies About GeneDecksing
|
Pathways & Interactions
for ACTL7A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACTL7A
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5 Interacting proteins for ACTL7A (Q9Y6153 ENSP000003343004) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for ACTL7A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ACTL7A
Search CenterWatch for drugs/clinical trials and news about ACTL7A / ACL7A
|
Transcripts
for ACTL7A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ACTL7A gene: NM_006687.2 Unigene Cluster for ACTL7A: Actin-like 7A Hs.123530 [show with all ESTs]Unigene Representative Sequence: BC0146101 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000333999(uc004bdj.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACTL7A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACTL7A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ACTL7A (NM_006687) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ACTL7A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTL7A |
Additional cDNA sequence: AK314981.1 BC014610.2 1 DOTS entry: DT.400889 24/33 AceView cDNA sequences (see all 33): BI829355 BP369587 BI520321 BI825202 NM_006687 BP368906 CD244092 BP369637 BI520420 BX088905 BP369278 BI459224 BC014610 BI458661 BG771704 BI829897 BG700472 BI460678 BG771611 BI828230 AI954673 BP370225 BI828858 AI220421
GeneLoc Exon Structure
|
Expression
for ACTL7A gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ACTL7A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTCCCAATG
About this image
See ACTL7A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACTL7A
SOURCE GeneReport for Unigene cluster: Hs.123530
UniProtKB/Swiss-Prot: ACL7A_HUMAN, Q9Y615Tissue specificity: Strongly expressed in testis. Also expressed in other tissues
SABiosciences Custom PCR Arrays for ACTL7A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACTL7A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ACTL7A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACTL7A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTL7A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTL7A |
Orthologs
for ACTL7A gene
(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)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ACTL7A gene from 3/13 species (see all 13) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
ACTL7A6 |
-- |
67(a) |
1 ↔ 1 |
GL343257.1(70236-71351) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
ATARP76 |
actin-related protein 7 |
29(a) |
possible ortholog |
3(22474074-22476445) |
rice
(Oryza sativa) |
Liliopsida |
-- |
actin, putative, expressed |
24(a) |
possible ortholog |
3(32437237-32441779) |
ENSEMBL Gene Tree for ACTL7A (if available)
TreeFam Gene Tree for ACTL7A (if available) |
Paralogs
for ACTL7A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ACTL7A gene
- ACTG22 ACTA22 ACTB2 ACTRT22 ACTR1A2 ACTC12 ACTL92 ACTRT12
- ACTG12 ACTBL22 ACTL7B2 ACTR1B2 ACTA12 ACTRT32
18/22 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
ACTA2 ACTB ACTR1A ACTRT2 ACTR1B ACTRT1
ACTL7A for paralogs About GeneDecksing
|
Genomic Variants
for ACTL7A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ACTL7A (111624603 - 111626035 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACTL7A: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACTL7A |
|
Disorders
/ Diseases
for ACTL7A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ACTL7A for disorders About GeneDecksing
OMIM gene information: 604303
OMIM disorders: --
9  diseases for ACTL7A: About MalaCardsdysautonomia riley-day syndrome breast cancer susceptibility male infertility
hypertensive nephropathy breast cancer infertility nephropathy
hypertension
1 disease from the University of Copenhagen DISEASES database for ACTL7A:Riley-Day syndrome Human Genome Epidemiology (HuGE) Navigator: ACTL7A (1 document)
Export disorders for ACTL7A gene to outside databases
|
Publications
for ACTL7A gene (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)
About This Section
|
PubMed articles for ACTL7A gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with ACTL7A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (1999)
- Molecular recognition of the Tes LIM2-3 domains by th e actin-related protein Arp7A. (PubMed id 21278383)1, 2 BoAda B....Way M. (2011)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- 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. (2004)
- Anti-ACTL7a antibodies: a cause of infertility. (PubMed id 22386842)1 Fu J....Wang L. (2012)
- Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
- Novel breast cancer susceptibility locus at 9q31.2: r esults of a genome-wide association study. (PubMed id 21263130)1 Fletcher O....Peto J. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- 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. (2008)
- Single nucleotide polymorphisms: discovery of the genetic causes of male infertility. (PubMed id 17644991)2 Tanaka H.... Nishimune Y. (2007)
|
External Searches for ACTL7A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ACTL7A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ACTL7A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ACTL7A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ACTL7A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for ACTL7A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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variant library, vector shuttling | | | OriGene Custom Antibody Services for ACTL7A | | OriGene Custom Protein Services for ACTL7A | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ACTL7A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACTL7A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTL7A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACTL7A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTL7A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACTL7A |
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| |  |  |  |  | | | | |
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 | | | ACTL7A Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTL7A |
|  |  |  | | | | ThermoFisher Antibodies for ACTL7A |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTL7A |
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