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ACTRT1 Gene

protein-coding   GIFtS: 40
GCID: GC0XM127184

Actin-Related Protein T1

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(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-Related Protein T11 2
ARPT12 3 5
AIP12
ARIP12
HSD272
ARP-T13

External Ids:    HGNC: 240271   Entrez Gene: 1397412   Ensembl: ENSG000001231657   OMIM: 3004875   UniProtKB: Q8TDG23   

Export aliases for ACTRT1 gene to outside databases

Previous GC identifers: GC0XM124030 GC0XM125129 GC0XM125890 GC0XM126910 GC0XM127012 GC0XM116588


(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 ACTRT1 Gene:
This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of
the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid
formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene
has also been identified approximately 75 kb downstream of this gene on chromosome X. (provided by RefSeq, May
2010)

GeneCards Summary for ACTRT1 Gene:
ACTRT1 (actin-related protein T1) is a protein-coding gene. An important paralog of this gene is ACTG2.




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the ACTRT1 gene promoter:
         RORalpha1   CREB   RFX1   AML1a   deltaCREB   Hand1   Nkx5-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTRT1 promoter sequence
   Search Chromatin IP Primers for ACTRT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTRT1


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

Entrez Gene cytogenetic band: Xq25   Ensembl cytogenetic band:  Xq25   HGNC cytogenetic band: Xq25

ACTRT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTRT1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM127184:  view genomic region     (about GC identifiers)

Start:
127,184,941 bp from pter      End:
127,186,382 bp from pter
Size:
1,442 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACTT1_HUMAN, Q8TDG2 (See protein sequence)
Recommended Name: Actin-related protein T1  
Size: 376 amino acids; 41696 Da
Secondary accessions: Q6X7C1 Q96L10

Explore the universe of human proteins at neXtProt for ACTRT1: NX_Q8TDG2

Explore proteomics data for ACTRT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ACTRT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612146.1  
    ENSEMBL proteins: 
     ENSP00000360165  

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    antibodies-online proteins for ACTRT1 (4 products) 

     
    antibodies-online peptides for ACTRT1

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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:
     IPR027666 ACTRT1/ACTRT2
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry Q8TDG2

    ProtoNet protein and cluster: Q8TDG2

    1 Blocks protein domain: IPB004000 Actin/actin-like

    UniProtKB/Swiss-Prot: ACTT1_HUMAN, Q8TDG2
    Similarity: Belongs to the actin family


    Find genes that share domains with ACTRT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ACTRT1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTRT1


    (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
    ACTT1_HUMAN, Q8TDG2: Cytoplasm, cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--

    Find genes that share ontologies with ACTRT1           About GenesLikeMe


    (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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    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACTRT1
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    PTEN Pathway
    Epithelial Adherens Junctions


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACTRT1
    Interactions:

        Search GeneGlobe Interaction Network for ACTRT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for ACTRT1 (ENSP000003601654) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNHIT1ENSP000003045934STRING: ENSP00000304593
    ACTR5ENSP000002439034STRING: ENSP00000243903
    ACTR8ENSP000003368424STRING: ENSP00000336842
    VPS72ENSP000003578874STRING: ENSP00000357887
    LCP1ENSP000003157574STRING: ENSP00000315757
    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 ACTRT1 (ACTT1)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACTRT1 gene: 
    NM_138289.3  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371124(uc004eum.3)
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTRT1
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      QuantiTect SYBR Green Assays in human, mouse, rat ACTRT1
      QuantiFast Probe-based Assays in human, mouse, rat ACTRT1

    5 AceView cDNA sequences:

    AF440739 BC014597 NM_138289 AY251532 BX280137 

    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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    ACTRT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTTCAATA
    ACTRT1 Expression
    About this image

    ACTRT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTRT1 Protein Expression
        Custom PCR Arrays for ACTRT1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTRT1

    (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.

    Orthologs for ACTRT1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actrt11 , 5 actin-related protein T11, 5 75.29(n)1
    71.2(a)1
      X (24.54 cM)5
    733601  NM_028514.31  NP_082790.11 
     463290075 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    51(a)
    1 → many
    21(1261036-1262148)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    49(a)
    1 → many
    AAWZ02039666(5355-6721)
    fruit fly
    (Drosophila melanogaster)
    Insecta Arp53D6
    Actin-related protein 53D
    43(a)
    1 → many
    2R(12661811-12663179)


    ENSEMBL Gene Tree for ACTRT1 (if available)
    TreeFam Gene Tree for ACTRT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTRT1 gene
    ACTG22  ACTA22  ACTRT22  ACTR1A2  ACTB2  ACTC12  ACTG12  ACTBL22  
    ACTR1B2  ACTA12  ACTRT32  
    Selected SIMAP similar genes for ACTRT1 using alignment to 1 protein entry:     ACTT1_HUMAN(see all similar genes):
    ACTRT2    ACTRT3    ACTG1    ACTBL2    ACTG2    PS1TP5BP1
    ACTB    ACTC1    POTEE    POTEF    POTEI    POTEJ
    POTEM    ACTA2    POTEKP    ACTR1A    ACTR1B    ACTR2

    Find genes that share paralogs with ACTRT1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ACTRT1
    PGOHUM00000241536


    (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 ACTRT1 (see all 99)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1437577561,2
    C--127140170(+) AGGACC/TCTGAG 1 -- ds50010--------
    rs20770271,2
    C,F,O,A,H--127140271(+) CCCTAT/CTGCAC 1 -- ds500120Minor allele frequency- C:0.10NA EA NS WA CSA 2223
    rs20770281,2
    C,F,A,H--127140285(+) CTAAAT/CGACAA 1 -- ds500121Minor allele frequency- C:0.11NA EA NS WA CSA 2229
    rs1920039091,2
    --127140403(+) GGTCTA/GTTAGA 1 -- ds50010--------
    rs1830564421,2
    --127140457(+) ACCAAA/GTCAAG 1 -- ds50010--------
    rs1450394011,2
    --127140496(+) TGCTAC/TAAATC 1 -- ds50010--------
    rs1388218601,2
    --127140565(+) AACAGG/TCCCAT 1 -- ds50010--------
    rs1868530671,2
    --127140655(+) AACTTG/TAAATG 1 -- ut310--------
    rs7321821,2
    C,F,O,A,H--127140705(+) AAATGC/GCATCT 1 -- ut3114Minor allele frequency- G:0.10NA EA NS WA CSA 819
    rs1916899961,2
    C--127140726(+) CTCCTA/GTAATC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ACTRT1 (127184941 - 127186382 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ACTRT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666298CNV Deletion23128226
    dgv2473e1CNV Complex17122850

    Locus Specific Mutation Databases (LSDB): ACTRT1

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 300487    OMIM disorders: --


    Find genes that share disorders with ACTRT1           About GenesLikeMe


    Export disorders for ACTRT1 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 ACTRT1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ACTRT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel actin-related proteins Arp-T1 and Arp-T2 as components of the cytoskeletal calyx of the mammalian sperm head. (PubMed id 12243744)1, 2, 3, 9 Heid H.W.... Franke W.W. (Exp. Cell Res. 2002)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    3. 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)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 139741 HGNC: 24027 AceView: ACTRT1 Ensembl:ENSG00000123165 euGenes: HUgn139741
    ECgene: ACTRT1 H-InvDB: ACTRT1

    (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 ACTRT1 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 ACTRT1 gene:
    Search GeneIP for patents involving ACTRT1

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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