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

ACBD4 Gene

protein-coding   GIFtS: 45
GCID: GC17P043209

acyl-CoA binding domain containing 4

(Previous name: acyl-Coenzyme A binding domain containing 4 )
 Explore 1 disease affiliated with
ACBD4 via our new
 Human Malady Compendium 
Biological research products
for ACBD4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Acyl-CoA Binding Domain Containing 41 2
Acyl-Coenzyme A Binding Domain Containing 41 2
FLJ133221
Acyl-CoA-Binding Domain-Containing Protein 42

External Ids:    HGNC: 233371   Entrez Gene: 797772   Ensembl: ENSG000001815137   UniProtKB: Q8NC063   

Export aliases for ACBD4 gene to outside databases

Previous GC identifers: GC17P043685 GC17P043688 GC17P040565 GC17P038976


(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 ACBD4:
This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain
the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in
acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: ACBD4_HUMAN, Q8NC06
Function: Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACBD4 gene promoter:
         Hand1   Nkx2-5   Pax-4a   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACBD4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACBD4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACBD4


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

ACBD4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACBD4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P043209:  view genomic region     (about GC identifiers)

Start:
43,209,967 bp from pter      End:
43,221,548 bp from pter
Size:
11,582 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACBD4_HUMAN, Q8NC06 (See protein sequence)
Recommended Name: Acyl-CoA-binding domain-containing protein 4  
Size: 268 amino acids; 30308 Da
1 PDB 3D structure from and Proteopedia for ACBD4:
2WH5 (3D)    
Secondary accessions: D3DX64 Q8IUT1 Q9H8Q4
Alternative splicing: 3 isoforms:  Q8NC06-1   Q8NC06-2   Q8NC06-3   

Explore the universe of human proteins at neXtProt for ACBD4: NX_Q8NC06

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NC06

  • ACBD4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001129176.1  NP_001129177.1  NP_001129178.1  NP_001129179.1  NP_078998.1  

    ENSEMBL proteins: 
     ENSP00000465610   ENSP00000465484   ENSP00000381367   ENSP00000466305   ENSP00000366154  
     ENSP00000314440   ENSP00000466505   ENSP00000405969  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ACBD4 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR022408 Acyl-CoA-binding_prot_CS
     IPR000582 Acyl-CoA-binding_protein
     IPR014352 FERM/acyl-CoA-bd_prot_3-hlx

    Graphical View of Domain Structure for InterPro Entry Q8NC06

    ProtoNet protein and cluster: Q8NC06

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

    UniProtKB/Swiss-Prot: ACBD4_HUMAN, Q8NC06
    Similarity: Contains 1 ACB (acyl-CoA-binding) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ACBD4_HUMAN, Q8NC06
    Function: Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0008289lipid binding IEA--


    ACBD4 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACBD4

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

    Browse Tocris compounds for ACBD4

    10/32 HMDB Compounds for ACBD4 (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--
    Search CenterWatch for drugs/clinical trials and news about ACBD4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACBD4 gene (5 alternative transcripts): 
    NM_001135704.1  NM_001135705.1  NM_001135706.1  NM_001135707.1  NM_024722.2  

    Unigene Cluster for ACBD4:

    Acyl-CoA binding domain containing 4
    Hs.110298  [show with all ESTs]
    Unigene Representative Sequence: BC022000
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587976 ENST00000587111 ENST00000586279 ENST00000591859 ENST00000586346
    ENST00000585553 ENST00000398322(uc002iic.3) ENST00000590289 ENST00000592162
    ENST00000376955(uc002iid.2) ENST00000321854(uc002iie.3 uc002iif.3 uc010dae.3)
    ENST00000589752 ENST00000589798 ENST00000591136 ENST00000431281(uc010wjj.2)


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    Additional cDNA sequence: 

    AB073387.1 AK023384.1 AK075104.1 AK296167.1 AK316359.1 BC022000.1 BC029164.1 BC041143.1 

    13 DOTS entries:

    DT.100791931  DT.100692561  DT.312454  DT.91904922  DT.100024493  DT.100024492  DT.120953439  DT.100791924 
    DT.99944856  DT.102823702  DT.120953543  DT.91733266  DT.97829494 

    24/103 AceView cDNA sequences (see all 103):

    CD723958 BU181377 BQ878143 BQ053023 AA877381 CB960702 BC041143 BQ923021 
    BQ880147 BX441433 AW629274 AI272247 CF593468 BM701590 BX487299 BX372399 
    BF514109 AB073387 BC029164 AI911754 AU134317 AI523921 AA621807 CB265674 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ACBD4 (see all 10)    About this scheme

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

    ExUns: 14a · 14b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for ACBD4

    (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

    ACBD4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCCCTTGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ACBD4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACBD4

    SOURCE GeneReport for Unigene cluster: Hs.110298
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    In Situ
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    (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 animals.

    Orthologs for ACBD4 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia ACBD46
    --
    37(a)
    1 ↔ 1
    6(64899001-64931375)
    zebrafish
    (Danio rerio)
    Actinopterygii acbd41 acyl-CoA binding domain containing 4 54.45(n)
    50.76(a)
      406368  NM_213095.1  NP_998260.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88146
    --
    19(a)
    1 → many
    2L(2874872-2877168)
    worm
    (Caenorhabditis elegans)
    Secernentea acbp-36
    acbp-46
    (see all 3)
    Acyl-CoA-binding protein homolog 3
    Acyl-Coenzyme A Binding Protein family member (acb...
    (see all 3)
    34(a)
    29(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    X(10903213-10905085)
    III(7308290-7308826)


    ENSEMBL Gene Tree for ACBD4 (if available)
    TreeFam Gene Tree for ACBD4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACBD4 gene
    ACBD52  ACBD72  DBI2  
    4 SIMAP similar genes for ACBD4 using alignment to 3 protein entries:     ACBD4_HUMAN (see all proteins):
    ACBD5    DBI    BRL    ACBD7

    ACBD4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/196 NCBI SNPs in ACBD4 are shown (see all 196    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs774039591,2
    C,F,--43208068(+) TGTTTC/TGNNNN 2 -- us2k1 int11Minor allele frequency- T:0.04NA 120
    rs129464541,2
    C,F,H,--43208121(+) GCCCAA/TGCCCT 2 -- us2k1 int19Minor allele frequency- T:0.16NS EA NA WA 738
    rs1155470151,2
    C,--43208126(+) AGCCCC/TTTCTG 2 -- us2k1 int10--------
    rs1164298371,2
    C,F,--43208202(+) ACCCCC/AAGCCT 2 -- int1 us2k11Minor allele frequency- A:0.03WA 118
    rs126031161,2
    C,F,H,--43208275(+) CCCTCA/TTGTGC 2 -- int1 us2k16Minor allele frequency- T:0.01NS EA NA 522
    rs1153446821,2
    C,F,--43208455(+) CCAATG/ACATGC 2 -- us2k1 int11Minor allele frequency- A:0.03WA 118
    rs739843321,2
    C,--43208481(+) GCAGGG/ATAGAG 2 -- int1 us2k12Minor allele frequency- A:0.02WA 120
    rs1506380451,2
    --43208492(+) ATGGTA/GTCCTA 2 -- us2k1 int10--------
    rs748348231,2
    --43208527(+) CACAGC/TGCCCA 2 -- int1 us2k11Minor allele frequency- T:0.01NA 120
    rs80699371,2
    C,F,A,H,--43208626(+) CACGGG/AGTCCC 2 -- int1 us2k125Minor allele frequency- A:0.37EA NA NS WA CSA 2559

    HapMap Linkage Disequilibrium report for ACBD4 (43209967 - 43221548 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for ACBD4
         2 CNVs: 34646 102467
         2 Indels: 45549 40182

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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.)
    About This Section

    ACBD4 for disorders           About GeneDecksing

    1 disease for ACBD4:    About MalaCards
    hepatoblastoma

    Human Genome Epidemiology (HuGE) Navigator: ACBD4 (1 document)

    Export disorders for ACBD4 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 ACBD4 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with ACBD4)
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    1. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The genetic architecture of economic and political pre ferences. (PubMed id 22566634)1 Benjamin D.J....Visscher P.M. (2012)
    5. Discovery and replication of novel blood pressure gen etic loci in the Women's Genome Health Study. (PubMed id 21045733)1 Ho J.E....Chasman D.I. (2011)
    6. 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)
    7. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (2010)
    8. Genome-wide association study identifies eight loci associated with blood pressure. (PubMed id 19430483)1 Newton-Cheh C....Munroe P.B. (2009)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79777 HGNC: 23337 AceView: ACBD4 Ensembl:ENSG00000181513 euGenes: HUgn79777
    ECgene: ACBD4 H-InvDB: ACBD4

    (According to HUGE)
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      --

    (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 ACBD4 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 ACBD4 gene:
    Search GeneIP for patents involving ACBD4

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



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