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ACBD5 Gene

protein-coding   GIFtS: 56
GCID: GC10M027484

Acyl-CoA Binding Domain Containing 5

(Previous name: acyl-Coenzyme A binding domain containing 5)
  See ACBD5-related disease
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 51 2
Acyl-Coenzyme A Binding Domain Containing 51 2
Acyl-CoA-Binding Domain-Containing Protein 52
Endozepine-Related Protein2
Membrane-Associated Diazepam Binding Inhibitor2
KIAA19963

External Ids:    HGNC: 233381   Entrez Gene: 914522   Ensembl: ENSG000001078977   UniProtKB: Q5T8D33   

Export aliases for ACBD5 gene to outside databases

Previous GC identifers: GC10M027489 GC10M027488 GC10M027525 GC10M027152


(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 ACBD5 Gene:
This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and
distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of
megakaryocytes and formation of platelets. A mutation in this gene has been associated with autosomal dominant
thrombocytopenia. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Oct 2012)

GeneCards Summary for ACBD5 Gene:
ACBD5 (acyl-CoA binding domain containing 5) is a protein-coding gene. Diseases associated with ACBD5 include thrombocytopenia. GO annotations related to this gene include lipid binding and fatty-acyl-CoA binding. An important paralog of this gene is ACBD4.

UniProtKB/Swiss-Prot: ACBD5_HUMAN, Q5T8D3
Function: Binds medium- and long-chain acyl-CoA esters




(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 at NCBI GenBank:
NC_000010.10  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACBD5 gene promoter:
         HOXA9B   HOXA9   POU2F1   POU2F1a   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACBD5 promoter sequence
   Search Chromatin IP Primers for ACBD5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACBD5


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

Entrez Gene cytogenetic band: 10p12.1   Ensembl cytogenetic band:  10p12.1   HGNC cytogenetic band: 10p12.1

ACBD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACBD5 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M027484:  view genomic region     (about GC identifiers)

Start:
27,484,143 bp from pter      End:
27,531,068 bp from pter
Size:
46,926 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: ACBD5_HUMAN, Q5T8D3 (See protein sequence)
Recommended Name: Acyl-CoA-binding domain-containing protein 5  
Size: 534 amino acids; 60092 Da
Sequence caution: Sequence=AAH30555.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for ACBD5:
3FLV (3D)    
Secondary accessions: B3KQ56 D3DRW0 Q5T8D4 Q5T8E1 Q5T8E2 Q86UV1 Q8N6E3 Q9UFB5
Alternative splicing: 4 isoforms:  Q5T8D3-1   Q5T8D3-2   Q5T8D3-3   Q5T8D3-4   (Contains a phosphothreonine at position 63)

Explore the universe of human proteins at neXtProt for ACBD5: NX_Q5T8D3

Explore proteomics data for ACBD5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys469
  • Modification sites at PhosphoSitePlus

  • See ACBD5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001035938.1  NP_001258441.1  NP_663736.2  

    ENSEMBL proteins: 
     ENSP00000379568   ENSP00000365066   ENSP00000365070   ENSP00000365049   ENSP00000401591  
     ENSP00000393398   ENSP00000365062  

    ACBD5 Human Recombinant Protein Products:

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    Novus Biologicals ACBD5 Protein
    Novus Biologicals ACBD5 Lysates
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    Cloud-Clone Corp. Proteins for ACBD5

     
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    Search eBioscience for ELISAs for ACBD5 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR022408 Acyl-CoA-binding_prot_CS
     IPR016347 M-assoc_diazepam-bd-inh
     IPR014352 FERM/acyl-CoA-bd_prot_3-hlx
     IPR000582 Acyl-CoA-binding_protein

    Graphical View of Domain Structure for InterPro Entry Q5T8D3

    ProtoNet protein and cluster: Q5T8D3

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

    UniProtKB/Swiss-Prot: ACBD5_HUMAN, Q5T8D3
    Similarity: Contains 1 ACB (acyl-CoA-binding) domain


    Find genes that share domains with ACBD5           About GenesLikeMe


    (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, 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACBD5_HUMAN, Q5T8D3
    Function: Binds medium- and long-chain acyl-CoA esters

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0003674molecular_function ND--
    GO:0008289lipid binding IEA--
         
    Find genes that share ontologies with ACBD5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ACBD5:
     Increased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACBD5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACBD5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACBD5

    miRNA
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    miRTarBase miRNAs that target ACBD5:
    hsa-mir-16-5p (MIRT031914), hsa-mir-21-5p (MIRT031018)

    Block miRNA regulation of human, mouse, rat ACBD5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACBD5 (see all 52):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-607 hsa-miR-300 hsa-miR-106a hsa-miR-301a hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidACBD5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACBD5

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ACBD5 (NM_145698)
    Sino Biological Human cDNA Clone for ACBD5
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    Addgene plasmids for ACBD5 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACBD5


    (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
    ACBD5_HUMAN, Q5T8D3: Peroxisome membrane; Single-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    cytosol2
    endoplasmic reticulum1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005778peroxisomal membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    Find genes that share ontologies with ACBD5           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACBD5
    Interactions:

        Search GeneGlobe Interaction Network for ACBD5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for ACBD5 (ENSP000003795684) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    GID8ENSP000002660694STRING: ENSP00000266069
    HMGCS1ENSP000003227064STRING: ENSP00000322706
    ADSLENSP000002161944STRING: ENSP00000216194
    HMGCS2ENSP000003584144STRING: ENSP00000358414
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--
    GO:0008150biological_process ND--

    Find genes that share ontologies with ACBD5           About GenesLikeMe



    (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 ACBD5

    Selected HMDB Compounds for ACBD5 (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--



    (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 ACBD5 gene (3 alternative transcripts): 
    NM_001042473.2  NM_001271512.2  NM_145698.3  

    Unigene Cluster for ACBD5:

    Acyl-CoA binding domain containing 5
    Hs.530597  [show with all ESTs]
    Unigene Representative Sequence: NM_001271512
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396271(uc010qdp.2) ENST00000375901(uc010qdn.2 uc010qdo.2)
    ENST00000375905(uc010qdm.2 uc001ito.3 uc001itp.3 uc001itq.3)
    ENST00000375888 ENST00000476758(uc001itr.1) ENST00000426079 ENST00000412279
    ENST00000375897
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ACBD5 (see all 52):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-607 hsa-miR-300 hsa-miR-106a hsa-miR-301a hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidACBD5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACBD5
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    GenScript: all cDNA clones in your preferred vector (see all 2): ACBD5 (NM_145698)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACBD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACBD5
    Addgene plasmids for ACBD5 
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    OriGene qPCR primer pairs and template standards for ACBD5
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACBD5
      QuantiTect SYBR Green Assays in human, mouse, rat ACBD5
      QuantiFast Probe-based Assays in human, mouse, rat ACBD5

    Additional mRNA sequence: 

    AB082527.1 AF505653.1 AK057469.1 AK294510.1 AK295031.1 AK304842.1 AL133064.1 BC011364.1 
    BC025309.1 BC030555.1 NR_024150.1 NR_073195.1 NR_073196.1 NR_073197.1 

    9 DOTS entries:

    DT.100754437  DT.95361856  DT.214087  DT.100009021  DT.101971842  DT.121220475  DT.121220466  DT.121220453 
    DT.40108407 

    Selected AceView cDNA sequences (see all 116):

    CA776355 BM468457 BG149319 AL133064 AW075612 BM462041 AI016454 CA306424 
    AA602335 AA351779 BU753261 N50062 BC025309 BX283450 BQ786920 AI333809 
    AL693381 BC030555 BP374792 BM747075 NM_145698 D59898 CB990808 CD677484 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACBD5 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b
    SP1:        -     -     -     -                                   -                                                                     
    SP2:                    -     -                                   -                                                                     
    SP3:                                                              -                                                                     
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for ACBD5

    (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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    ACBD5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGTAAGGC
    ACBD5 Expression
    About this image


    ACBD5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ACBD5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACBD5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.530597
        Custom PCR Arrays for ACBD5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACBD5

    (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 ACBD5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acbd51 , 5 acyl-Coenzyme A binding domain containing 51, 5 84.91(n)1
    83.4(a)1
      2 (15.21 cM)5
    741591  NM_001102438.11  NP_001095908.11 
     230681685 
    chicken
    (Gallus gallus)
    Aves ACBD51 acyl-CoA binding domain containing 5 72.38(n)
    65.29(a)
      420488  NM_001006356.1  NP_001006356.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACBD56
    acyl-CoA binding domain containing 5
    56(a)
    1 ↔ 1
    6(14512420-14545358)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.74182 Transcribed sequence with weak similarity to protein more 78.29(n)    CF216920.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acbd5a1 acyl-Coenzyme A binding domain containing 5a 55.32(n)
    46.6(a)
      553674  NM_001020647.1  NP_001018483.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88146
    --
    30(a)
    1 → many
    2L(2874872-2877168)
    worm
    (Caenorhabditis elegans)
    Secernentea acbp-36
    acbp-46
    (see all 3)
    Protein ACBP-4 (acbp-4) mRNA, complete cds
    (see all 3)
    32(a)
    32(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    X(10903278-10905150) WBGene00009818
    III(7308354-7308890) WBGene00018949


    ENSEMBL Gene Tree for ACBD5 (if available)
    TreeFam Gene Tree for ACBD5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACBD5 gene
    ACBD42  
    6 SIMAP similar genes for ACBD5 using alignment to 3 protein entries:     ACBD5_HUMAN (see all proteins):
    KIAA1996    ACBD4    HCA64    BRL    ACBD7    DBI

    Find genes that share paralogs with ACBD5           About GenesLikeMe



    (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 ACBD5 (see all 1244)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs7882291,2
    C,H--27390356(+) ctgggC/Tgcagt 7 -- ds50016Minor allele frequency- T:0.00NA WA CSA 12
    rs1433804851,2
    C--27390412(+) GATCAA/CGAGGT 7 -- ds50010--------
    rs1867778411,2
    --27390431(+) GGAAAC/TCATCC 7 -- ds50010--------
    rs1926016431,2
    --27390500(+) GGCACA/GTGCCT 7 -- ds50010--------
    rs7882301,2
    C,F,H--27390676(+) TCAACC/TAGATG 7 -- ds500117Minor allele frequency- T:0.18NS EA NA 2118
    rs1839872181,2
    --27390776(+) ATGTGC/TGACTA 7 -- ds50010--------
    rs169276141,2
    C,F,H--27390811(+) CCTAAT/CCAATG 7 -- ds50019Minor allele frequency- C:0.15NA NS EA CSA WA 680
    rs1884359921,2
    --27391088(+) GTTATC/TCCAGA 7 -- ut31 nc-transcript-variant0--------
    rs1461740181,2
    --27391158(+) CTAAGA/GGAAAA 7 -- ut31 nc-transcript-variant0--------
    rs1386378861,2
    C--27391242(+) TTTTAC/TATATA 7 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for ACBD5 (27484143 - 27531068 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ACBD5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422253CNV Deletion17116639
    esv2664616CNV Deletion23128226
    nsv8614CNV Loss18304495
    nsv894980CNV Gain21882294

    Human Gene Mutation Database (HGMD): ACBD5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACBD5
    DNA2.0 Custom Variant and Variant Library Synthesis for ACBD5

    (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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    1 disease for ACBD5:    
    About MalaCards
    thrombocytopenia


    Find genes that share disorders with ACBD5           About GenesLikeMe

    Genetic Association Database (GAD): ACBD5
    Human Genome Epidemiology (HuGE) Navigator: ACBD5 (1 document)

    Export disorders for ACBD5 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 ACBD5 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with ACBD5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)1, 3 Ohara O.... Koseki H. (DNA Res. 2002)
    4. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    5. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 JAoger S....Krogan N.J. (Nature 2012)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    9. A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5a88) identified in autosomal dominant thrombocytopenia. (PubMed id 20626622)1 Punzo F....Perrotta S. (J. Thromb. Haemost. 2010)
    10. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)

    (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: 91452 HGNC: 23338 AceView: ACBD5 Ensembl:ENSG00000107897 euGenes: HUgn91452
    ECgene: ACBD5 H-InvDB: ACBD5

    (According to HUGE)
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    HUGE: KIAA1996

    (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 ACBD5 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 ACBD5 gene:
    Search GeneIP for patents involving ACBD5

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



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