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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PASD1 Gene

protein-coding   GIFtS: 46
GCID: GC0XP150732

PAS Domain Containing 1

  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)
About This Section

Aliases
PAS Domain Containing 11 2
Cancer/Testis Antigen 631 2 3
CT632 3
OXTES12
PAS Domain-Containing Protein 12
OX-TES-13

External Ids:    HGNC: 206861   Entrez Gene: 1391352   Ensembl: ENSG000001660497   UniProtKB: Q8IV763   

Export aliases for PASD1 gene to outside databases

Previous GC identifers: GC0XP150402 GC0XP150482 GC0XP139588


(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 PASD1 Gene:
This gene encodes a protein that is thought to function as a transcription factor. The protein is a
cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a
potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse
large B-cell lymphoma. (provided by RefSeq, May 2010)

GeneCards Summary for PASD1 Gene: 
PASD1 (PAS domain containing 1) is a protein-coding gene. Diseases associated with PASD1 include small intestine cancer, and diffuse large b-cell lymphoma. GO annotations related to this gene include signal transducer activity.

UniProtKB/Swiss-Prot: PASD1_HUMAN, Q8IV76
Function: May function as a transcription factor

Gene Wiki entry for PASD1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167198.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PASD1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPASD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PASD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PASD1


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

PASD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PASD1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP150732:  view genomic region     (about GC identifiers)

Start:
150,732,007 bp from pter      End:
150,845,211 bp from pter
Size:
113,205 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PASD1_HUMAN, Q8IV76 (See protein sequence)
Recommended Name: PAS domain-containing protein 1  
Size: 773 amino acids; 87428 Da
Subcellular location: Nucleus (Probable)
Secondary accessions: Q3MNE0 Q69HD7 Q8N7X9
Alternative splicing: 2 isoforms:  Q8IV76-1   Q8IV76-2   (Due to intron retention)

Explore the universe of human proteins at neXtProt for PASD1: NX_Q8IV76

Explore proteomics data for PASD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IV76

  • PASD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PASD1 Protein Expression
    REFSEQ proteins: NP_775764.2  
    ENSEMBL proteins: 
     ENSP00000359382  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--

    PASD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000014 PAS

    Graphical View of Domain Structure for InterPro Entry Q8IV76

    ProtoNet protein and cluster: Q8IV76

    UniProtKB/Swiss-Prot: PASD1_HUMAN, Q8IV76
    Similarity: Contains 1 PAS (PER-ARNT-SIM) domain


    PASD1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PASD1_HUMAN, Q8IV76
    Function: May function as a transcription factor

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
         
    PASD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PASD1:
     Decreased influenza A/WSN/33 r 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PASD1 
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    hsa-miR-331-3p
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PASD1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for PASD1 (ENSP000003593824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----

    PASD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PASD1

    Search CenterWatch for drugs/clinical trials and news about PASD1

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PASD1 gene: 
    NM_173493.2  

    Unigene Cluster for PASD1:

    PAS domain containing 1
    Hs.160594  [show with all ESTs]
    Unigene Representative Sequence: NM_173493
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370357(uc004fev.4) ENST00000464219
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PASD1:
    hsa-miR-331-3p
    SwitchGear 3'UTR luciferase reporter plasmidPASD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PASD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PASD1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PASD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PASD1
    Sirion Biotech Customized lentivirus for stable overexpression of PASD1 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PASD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PASD1

    Additional mRNA sequence: 

    AK097552.1 AY623425.1 BC040301.1 

    2 DOTS entries:

    DT.100019667  DT.91958553 

    8 AceView cDNA sequences:

    BU622220 AA675906 AA909926 CA430026 AI432364 AW268858 CA417836 AI425097 

    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™, 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

    PASD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTACCACA
    PASD1 Expression
    About this image


    See PASD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PASD1

    SOURCE GeneReport for Unigene cluster: Hs.160594

    UniProtKB/Swiss-Prot: PASD1_HUMAN, Q8IV76
    Tissue specificity: Testis-specific. Found in histologically normal tissues from patients with uterus, lung and
    small intestine cancers. Widespread expression seen in solid tumors and diffuse large B-cell lymphoma
    (DLBCL)-derived cell lines. Isoform 2 is expressed in all DLBCL-derived cell lines, while isoform 1 is
    preferentially expressed in cell lines derived from non-germinal center DLBCL

        SABiosciences Custom PCR Arrays for PASD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PASD1

    (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 human and mouse.

    Orthologs for PASD1 gene from 1/2 species (see all 2)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm11415 predicted gene 1141   --   X (37.14 cM) 71928816 


    ENSEMBL Gene Tree for PASD1 (if available)
    TreeFam Gene Tree for PASD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) 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

    10/1922 SNPs in PASD1 are shown (see all 1922)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1823208911,2
    --150730016(+) GGCCGC/TGCTAG 1 -- us2k10--------
    rs1496755671,2
    C--150730034(+) TAACTA/GGCCGA 1 -- us2k10--------
    rs288065711,2
    C--150730057(+) ATTTAG/ACCTCC 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1454698221,2
    --150730096(+) GCAAGC/TGAAAG 1 -- us2k10--------
    rs1869268601,2
    --150730110(+) TCCGAA/TGGTAC 1 -- us2k10--------
    rs1488433741,2
    C--150730134(+) ATAGGC/TGATAA 1 -- us2k10--------
    rs1917735021,2
    --150730135(+) TAGGCA/GATAAT 1 -- us2k10--------
    rs1435007151,2
    --150730146(+) CTCTCC/TGCTCA 1 -- us2k10--------
    rs1476049961,2
    --150730150(+) CCGCTC/GAGTGA 1 -- us2k10--------
    rs1422121231,2
    --150730186(+) ATAGTA/CTCACT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PASD1 (150732007 - 150845211 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PASD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv436635CNV Deletion17901297
    nsv7156CNV Insertion18451855
    nsv517909CNV Gain19592680


    Locus Specific Mutation Databases (LSDB): PASD1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PASD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PASD1

    (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.)
    About This Section
    6 diseases for PASD1:    About MalaCards
    small intestine cancer    diffuse large b-cell lymphoma    b-cell lymphomas    basal cell carcinoma
    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for PASD1:
    Diffuse large B-cell lymphoma

    PASD1 for disorders           About GeneDecksing


    Export disorders for PASD1 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)
    About This Section

    PubMed articles for PASD1 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with PASD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel diffuse large B-cell lymphoma-associated cancer testis antigen encoding a PAS domain protein. (PubMed id 15162151)1, 2, 3 Liggins A.P....Banham A.H. (2004)
    2. Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia. (PubMed id 16112646)1, 2 Guinn B.-A.... Mufti G.J. (2005)
    3. Serologic detection of diffuse large B-cell lymphoma-associated antigens. (PubMed id 15122589)1, 3 Liggins A.P....Banham A.H. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (2011)
    7. Elevated expression levels of testis-specific genes T EX101 and SPATA19 in basal cell carcinoma and their correlation with clinical a nd pathological features. (PubMed id 19886887)1 Ghafouri-Fard S....Modarressi M.H. (2010)
    8. DNA vaccines to target the cancer testis antigen PASD 1 in human multiple myeloma. (PubMed id 20861911)1 Joseph-Pietras D....Sahota S.S. (2010)
    9. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)
    10. Cytolytic T-cell response to the PASD1 cancer testis antigen in patients with diffuse large B-cell lymphoma. (PubMed id 19552722)1 Ait-Tahar K....Pulford K. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 139135 HGNC: 20686 AceView: PASD1 Ensembl:ENSG00000166049 euGenes: HUgn139135
    ECgene: PASD1 H-InvDB: PASD1

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for PASD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PASD1 gene:
    Search GeneIP for patents involving PASD1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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     Proteins for PASD1
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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