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ACBD3 Gene

protein-coding   GIFtS: 57
GCID: GC01M226332

Acyl-CoA Binding Domain Containing 3

(Previous names: golgi complex associated protein 1, 60kDa, acyl-Coenzyme...)
(Previous symbols: GOLPH1, GOCAP1)
  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
Acyl-CoA Binding Domain Containing 31 2     Golgi Phosphoprotein 12 3
GOCAP11 2 3 5     Peripheral Benzodiazepine Receptor-Associated Protein PAP72 3
GOLPH11 2 3 5     PAP72
PBR- And PKA-Associated Protein 71 2 3     Golgi Resident Protein GCP602
GCP602 3 5     PKA (RIalpha)-Associated Protein2
Acyl-Coenzyme A Binding Domain Containing 31 2     Acyl-CoA-Binding Domain-Containing Protein 33
Golgi Complex Associated Protein 1, 60kDa1 2     Golgi Complex-Associated Protein 13

External Ids:    HGNC: 154531   Entrez Gene: 647462   Ensembl: ENSG000001828277   OMIM: 6068095   UniProtKB: Q9H3P73   

Export aliases for ACBD3 gene to outside databases

Previous GC identifers: GC01M223307 GC01M222639 GC01M224399 GC01M196849


(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 ACBD3 Gene:
The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic
reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function
through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal
regulation of steroid formation. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACBD3 Gene:
ACBD3 (acyl-CoA binding domain containing 3) is a protein-coding gene. Diseases associated with ACBD3 include carney complex, and tonsillitis. GO annotations related to this gene include fatty-acyl-CoA binding. An important paralog of this gene is TMED8.

UniProtKB/Swiss-Prot: GCP60_HUMAN, Q9H3P7
Function: Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport
between the endoplasmic reticulum and Golgi. Involved in hormone-induced steroid biosynthesis in testicular
Leydig cells (By similarity)

Gene Wiki entry for ACBD3 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_000001.11  NC_018912.2  NT_167186.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACBD3 gene promoter:
         Nkx3-1   Nkx3-1 v4   Pax-5   Nkx3-1 v1   MIF-1   Egr-4   GATA-1   Evi-1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACBD3 promoter sequence
   Search Chromatin IP Primers for ACBD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACBD3


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

Entrez Gene cytogenetic band: 1q42.12   Ensembl cytogenetic band:  1q42.12   HGNC cytogenetic band: 1q41

ACBD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACBD3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M226332:  view genomic region     (about GC identifiers)

Start:
226,332,380 bp from pter      End:
226,374,431 bp from pter
Size:
42,052 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GCP60_HUMAN, Q9H3P7 (See protein sequence)
Recommended Name: Golgi resident protein GCP60  
Size: 528 amino acids; 60593 Da
Subunit: Interacts with the C-terminal cytoplasmic domain of giantin/GOLGB1. Interacts with PBR and PKA regulatory
subunit RI-alpha. Does not interact with PKA regulatory subunit RI-beta nor PKA regulatory subunit RII-alpha (By
similarity)
Secondary accessions: B2RB29 Q5VTJ0 Q6P9F1 Q8IZC5 Q8N4D6 Q9H6U3

Explore the universe of human proteins at neXtProt for ACBD3: NX_Q9H3P7

Explore proteomics data for ACBD3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys507
  • Modification sites at PhosphoSitePlus

  • See ACBD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073572.2  
    ENSEMBL proteins: 
     ENSP00000355777  

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    ACBD3 Assay Products:

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    Cloud-Clone Corp. CLIAs for ACBD3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AKAP: A-kinase anchor proteins

    4 InterPro protein domains:
     IPR022408 Acyl-CoA-binding_prot_CS
     IPR014352 FERM/acyl-CoA-bd_prot_3-hlx
     IPR009038 GOLD
     IPR000582 Acyl-CoA-binding_protein

    Graphical View of Domain Structure for InterPro Entry Q9H3P7

    ProtoNet protein and cluster: Q9H3P7

    1 Blocks protein domain: IPB000582 Acyl-coA-binding protein

    UniProtKB/Swiss-Prot: GCP60_HUMAN, Q9H3P7
    Domain: The GOLD domain is essential for giantin binding
    Similarity: Contains 1 ACB (acyl-CoA-binding) domain
    Similarity: Contains 1 GOLD domain


    ACBD3 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:

         UniProtKB/Swiss-Prot Summary: GCP60_HUMAN, Q9H3P7
    Function: Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport
    between the endoplasmic reticulum and Golgi. Involved in hormone-induced steroid biosynthesis in testicular
    Leydig cells (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0005515protein binding IPI--
         
    ACBD3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACBD3:
     Decreased POU5F1-GFP protein e 

         1 MGI phenotypic allele for Acbd3 (no phenotypes)

    ACBD3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACBD3
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACBD3

    miRNA
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    miRTarBase miRNAs that target ACBD3:
    hsa-mir-877-5p (MIRT037332), hsa-mir-335-5p (MIRT018287), hsa-mir-26b-5p (MIRT029685)

    Block miRNA regulation of human, mouse, rat ACBD3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACBD3 (see all 16):
    hsa-miR-301b hsa-miR-34c-5p hsa-miR-449b hsa-miR-519e hsa-miR-301a hsa-miR-449a hsa-miR-3666 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidACBD3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACBD3

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    GenScript: all cDNA clones in your preferred vector: ACBD3 (NM_022735)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACBD3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACBD3


    (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
    GCP60_HUMAN, Q9H3P7: Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side (By similarity).
    Mitochondrion (By similarity). Note=Also mitochondrial (via its interaction with PBR) (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol2
    mitochondrion2
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005739mitochondrion IEA--
    GO:0005794Golgi apparatus IDA--
    GO:0016021integral component of membrane IEA--

    ACBD3 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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    SuperPaths for ACBD3 About    
    See pathways by source

    SuperPathContained pathways About
    1Benzodiazepine Pathway, Pharmacodynamics
    Benzodiazepine Pathway, Pharmacodynamics


    1 PharmGKB Pathway for ACBD3
        Benzodiazepine Pathway, Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACBD3
    Interactions:

        GeneGlobe Interaction Network for ACBD3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for ACBD3 (Q9H3P71, 2, 3 ENSP000003557774) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    -O914641, 2EBI-1791792,EBI-7587528 MINT-8380617 MINT-8379182 MINT-8379448 MINT-8380560 MINT-8380603 MINT-8380574 MINT-8379359 MINT-8380472 MINT-8380588 MINT-8379302 MINT-8379258 MINT-8379402 MINT-8379434 MINT-8379373 MINT-8380544 MINT-8379273 MINT-8379319 MINT-8379240 MINT-8379344 MINT-8379417 MINT-8379388 MINT-8379287
    PI4KBQ9UBF81, 2EBI-1791792,EBI-1053214 MINT-8379921 MINT-8379963 MINT-8379946 MINT-8379976
    SMURF2Q9HAU42, 3MINT-61799 I2D: score=3 
    GOLGB1Q147893, ENSP000003418484I2D: score=3 STRING: ENSP00000341848
    GOLGA3Q083783, ENSP000002047264I2D: score=1 STRING: ENSP00000204726
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694steroid biosynthetic process IEA--
    GO:0006810transport IEA--

    ACBD3 for ontologies           About GeneDecksing



    (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 ACBD3 (GCP60)

    Selected HMDB Compounds for ACBD3 (see all 32)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    3 Novoseek inferred chemical compound relationships for ACBD3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    benzodiazepine 76.8 13 11731621 (1), 20043945 (1), 12943713 (1), 12711385 (1) (see all 6)
    steroid 52.5 11 11731621 (3), 12943713 (2), 12711385 (2), 12692076 (1) (see all 5)
    cholesterol 32.5 8 12943713 (2), 11731621 (1), 17050526 (1), 19286473 (1)



    ACBD3 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACBD3 gene: 
    NM_022735.3  

    Unigene Cluster for ACBD3:

    Acyl-CoA binding domain containing 3
    Hs.520207  [show with all ESTs]
    Unigene Representative Sequence: AB043587
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366812(uc001hpy.3) ENST00000464927
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ACBD3 (see all 16):
    hsa-miR-301b hsa-miR-34c-5p hsa-miR-449b hsa-miR-519e hsa-miR-301a hsa-miR-449a hsa-miR-3666 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidACBD3 3' UTR sequence
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    Additional mRNA sequence: 

    AB043587.2 AK025520.1 AK314468.1 BC034563.2 BC039575.1 BC045533.1 BC060792.1 

    7 DOTS entries:

    DT.415758  DT.95182169  DT.95376411  DT.100026620  DT.100692533  DT.100754839  DT.121374686 

    Selected AceView cDNA sequences (see all 214):

    AI374834 BM994665 CD556802 BQ431349 BF197549 AU279552 BM979013 CA771017 
    BQ632415 AI014575 BM979559 AI638527 CA394672 BC039575 AI674869 AK025520 
    CN481732 BG028747 BU520875 BU786583 AL546667 CK821951 BQ020219 AI419564 

    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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    ACBD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTTAGGCA
    ACBD3 Expression
    About this image


    ACBD3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    ACBD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACBD3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520207

    UniProtKB/Swiss-Prot: GCP60_HUMAN, Q9H3P7
    Tissue specificity: Ubiquitous, with highest expression in testis and ovary

        Custom PCR Arrays for ACBD3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACBD3

    (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 ACBD3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acbd31 , 5 acyl-Coenzyme A binding domain containing 31, 5 86.67(n)1
    88.19(a)1
      1 (84.46 cM)5
    1707601  NM_133225.31  NP_573488.21 
     1807260435 
    chicken
    (Gallus gallus)
    Aves ACBD31 acyl-CoA binding domain containing 3 79.52(n)
    84.11(a)
      421317  NM_001031043.1  NP_001026214.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACBD36
    acyl-CoA binding domain containing 3
    82(a)
    1 ↔ 1
    1(251507794-251534476)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ040833.12   -- 79.01(n)    BJ040833.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BU492952.12   -- 74.36(n)   321222  BU492952.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG142326
    --
    39(a)
    1 → many
    X(19596021-19598292)
    worm
    (Caenorhabditis elegans)
    Secernentea Y41E3.76
    Protein Y41E3.7, isoform a
    42(a)
    1 → many
    IV(15014042-15025517) WBGene00012765


    ENSEMBL Gene Tree for ACBD3 (if available)
    TreeFam Gene Tree for ACBD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACBD3 gene
    TMED82  

    ACBD3 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 ACBD3 (see all 885)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs777628511,2
    --196881270(+) AAAAAG/ACTTTC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs357941651,2
    C--226332692(+) AAAAA-/ATCCAG 1 -- ut311Minor allele frequency- A:0.50NA 2
    rs722645151,2
    C--226333536(+) GAAGC-/CAAAA 
            
    CAAAA
    1 -- ut310--------
    rs1134335661,2
    C,F--226337973(+) CAAAAC/TGGGTT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs2004426821,2
    C--226339707(+) AAAAA-/ATTTTT 1 -- int10--------
    rs340963271,2
    C--226344943(+) TTTTTT/-GAGAC 1 -- int11Minor allele frequency- -:0.00NA 2
    rs2007409511,2
    C--226345245(+) TTTTT-/TCCTCG 1 -- int10--------
    rs1998466711,2
    C--226347796(+) TTTTT-/TGAGAC 1 -- int10--------
    rs2001852511,2
    --226348027(+) CTCAA-/TCAAGTG 1 -- int10--------
    rs2001788881,2
    C--226350672(+) TTTTT-/TGTAGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for ACBD3 (226332380 - 226374431 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ACBD3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2591433CNV Insertion19546169
    nsv819122CNV Loss19587683
    nsv826897CNV Loss20364138
    nsv832759CNV Loss17160897
    nsv873232CNV Gain21882294
    nsv832747CNV Gain17160897

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606809    OMIM disorders: --

    7 diseases for ACBD3:    
    About MalaCards
    carney complex    tonsillitis    malaria    thyroiditis
    cerebritis    neuronitis    prostatitis


    ACBD3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ACBD3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypercortisolism 67 2 12943713 (1), 12692076 (1)

    Genetic Association Database (GAD): ACBD3
    Human Genome Epidemiology (HuGE) Navigator: ACBD3 (2 documents)

    Export disorders for ACBD3 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

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    PubMed articles for ACBD3 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with ACBD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues. (PubMed id 12692076)1, 3, 9 Liu J....Papadopoulos V. (FASEB J. 2003)
    2. Specificity and spatial dynamics of protein kinase A signaling organized by A-kinase-anchoring proteins. (PubMed id 20150326)1, 3 Pidoux G. and TaskAcn K. (J. Mol. Endocrinol. 2010)
    3. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PubMed id 18636124)1, 4 Skibola C.F....Smith M.T. (PLoS ONE 2008)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    8. Identification and characterization of a novel Golgi protein, GCP60, that interacts with the integral membrane protein giantin. (PubMed id 11590181)1, 2 Sohda M.... Ikehara Y. (J. Biol. Chem. 2001)
    9. Identification, localization, and function in steroidogenesis of PAP7: a peripheral-type benzodiazepine receptor- and PKA (RIalpha)-associated protein. (PubMed id 11731621)1, 9 Li H....Papadopoulos V. (Mol. Endocrinol. 2001)
    10. Molecular cloning, genomic organization, chromosomal mapping and subcellular localization of mouse PAP7: a PBR and PKA-RIalpha associated protein. (PubMed id 12711385)1, 9 Liu J....Papadopoulos V. (Gene 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    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

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    Entrez Gene: 64746 HGNC: 15453 AceView: ACBD3 Ensembl:ENSG00000182827 euGenes: HUgn64746
    ECgene: ACBD3 H-InvDB: ACBD3

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for ACBD3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ACBD3 gene:
    Search GeneIP for patents involving ACBD3

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



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