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Aliases for ACBD6 Gene

Aliases for ACBD6 Gene

  • Acyl-CoA Binding Domain Containing 6 2 3 5
  • Acyl-Coenzyme A Binding Domain Containing 6 2 3
  • Acyl-CoA-Binding Domain-Containing Protein 6 3

External Ids for ACBD6 Gene

Previous GeneCards Identifiers for ACBD6 Gene

  • GC01M177496
  • GC01M176989
  • GC01M178523
  • GC01M180244
  • GC01M151488
  • GC01M180270
  • GC01M180336
  • GC01M180404
  • GC01M180430
  • GC01M180524
  • GC01M180612
  • GC01M180710

Summaries for ACBD6 Gene

GeneCards Summary for ACBD6 Gene

ACBD6 (Acyl-CoA Binding Domain Containing 6) is a Protein Coding gene. Diseases associated with ACBD6 include Pituitary Hormone Deficiency, Combined, 4 and Pituitary Hormone Deficiency, Combined, 1. Among its related pathways are Metabolism and Fatty Acyl-CoA Biosynthesis. Gene Ontology (GO) annotations related to this gene include lipid binding and fatty-acyl-CoA binding. An important paralog of this gene is ACBD5.

UniProtKB/Swiss-Prot for ACBD6 Gene

  • Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids.

Additional gene information for ACBD6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACBD6 Gene

Genomics for ACBD6 Gene

GeneHancer (GH) Regulatory Elements for ACBD6 Gene

Promoters and enhancers for ACBD6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J180500 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 662.8 +0.6 585 3.1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 ZNF610 GLIS1 NBN ACBD6 LHX4-AS1 LHX4 CEP350 RN7SL230P ENSG00000261831 ENSG00000225359 ENSG00000243155 GC01M180934
GH01J181126 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 42.1 -626.4 -626369 6.2 CLOCK FEZF1 IRF4 ZNF213 E2F8 ZNF548 ZC3H11A MEF2D ZNF610 NBN LHX4 ACBD6 IER5 MR1 KIAA1614 GC01M181116 LINC01732
GH01J181086 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 21.3 -589.6 -589596 11.6 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 ZNF263 GC01P181092 GC01M181092 PIR40361 LHX4 ACBD6 IER5 ENSG00000225359 MR1 STX6 GC01M181116
GH01J179951 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.3 +548.6 548571 5.2 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 ZNF263 SP3 NFYC CEP350 ENSG00000260360 LOC101928933 PIR45618 LHX4 ACBD6 QSOX1 ENSG00000261831
GH01J181132 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.7 -631.9 -631949 4.4 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B NEUROD1 SIN3A YBX1 DMAP1 LHX4 ACBD6 IER5 ENSG00000225359 ENSG00000232309 KIAA1614 MR1 STX6 GC01M181116 LINC01732
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACBD6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACBD6 gene promoter:
  • Nkx2-5
  • RORalpha1
  • STAT1beta
  • STAT1alpha
  • STAT1
  • SRY
  • aMEF-2
  • MEF-2A
  • Nkx3-1

Genomic Locations for ACBD6 Gene

Genomic Locations for ACBD6 Gene
chr1:180,269,653-180,502,967
(GRCh38/hg38)
Size:
233,315 bases
Orientation:
Minus strand
chr1:180,244,515-180,472,089
(GRCh37/hg19)
Size:
227,575 bases
Orientation:
Minus strand

Genomic View for ACBD6 Gene

Genes around ACBD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACBD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACBD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACBD6 Gene

Proteins for ACBD6 Gene

  • Protein details for ACBD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BR61-ACBD6_HUMAN
    Recommended name:
    Acyl-CoA-binding domain-containing protein 6
    Protein Accession:
    Q9BR61

    Protein attributes for ACBD6 Gene

    Size:
    282 amino acids
    Molecular mass:
    31151 Da
    Quaternary structure:
    • Monomer.
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for ACBD6 Gene

neXtProt entry for ACBD6 Gene

Post-translational modifications for ACBD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACBD6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACBD6 Gene

Domains & Families for ACBD6 Gene

Gene Families for ACBD6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACBD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ACBD6: view

No data available for UniProtKB/Swiss-Prot for ACBD6 Gene

Function for ACBD6 Gene

Molecular function for ACBD6 Gene

UniProtKB/Swiss-Prot Function:
Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids.

Gene Ontology (GO) - Molecular Function for ACBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0005515 protein binding IEA --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with ACBD6: view
genes like me logo Genes that share phenotypes with ACBD6: view

Animal Model Products

CRISPR Products

miRNA for ACBD6 Gene

miRTarBase miRNAs that target ACBD6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACBD6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACBD6 Gene

Localization for ACBD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACBD6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACBD6 gene
Compartment Confidence
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ACBD6: view

Pathways & Interactions for ACBD6 Gene

genes like me logo Genes that share pathways with ACBD6: view

Gene Ontology (GO) - Biological Process for ACBD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006637 acyl-CoA metabolic process TAS --
genes like me logo Genes that share ontologies with ACBD6: view

No data available for SIGNOR curated interactions for ACBD6 Gene

Drugs & Compounds for ACBD6 Gene

(2) Drugs for ACBD6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(30) Additional Compounds for ACBD6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with ACBD6: view

Transcripts for ACBD6 Gene

mRNA/cDNA for ACBD6 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(159) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACBD6 Gene

Acyl-CoA binding domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACBD6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACBD6 Gene

No ASD Table

Relevant External Links for ACBD6 Gene

GeneLoc Exon Structure for
ACBD6
ECgene alternative splicing isoforms for
ACBD6

Expression for ACBD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACBD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACBD6 Gene

This gene is overexpressed in Lymph node (11.2), Monocytes (9.8), and Testis (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACBD6 Gene



Protein tissue co-expression partners for ACBD6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACBD6 Gene:

ACBD6

SOURCE GeneReport for Unigene cluster for ACBD6 Gene:

Hs.200051

mRNA Expression by UniProt/SwissProt for ACBD6 Gene:

Q9BR61-ACBD6_HUMAN
Tissue specificity: Detected in placenta and spleen (at protein level). Detected in placenta, umbilical cord blood, CD34-positive hematopoietic progenitor cells and bone marrow.

Evidence on tissue expression from TISSUES for ACBD6 Gene

  • Lung(4.3)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with ACBD6: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACBD6 Gene

Orthologs for ACBD6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACBD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACBD6 33
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia ACBD6 33
  • 90.43 (n)
cow
(Bos Taurus)
Mammalia ACBD6 33
  • 90.31 (n)
rat
(Rattus norvegicus)
Mammalia Acbd6 33
  • 87.12 (n)
mouse
(Mus musculus)
Mammalia Acbd6 16 33
  • 86.52 (n)
chicken
(Gallus gallus)
Aves ACBD6 33
  • 74.03 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia acbd6 33
  • 65.65 (n)
Str.87 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6444 33
zebrafish
(Danio rerio)
Actinopterygii acbd6 33
  • 67.37 (n)
wufc18d09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5351 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000752 33
  • 46.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG33713 33
  • 43.71 (n)
worm
(Caenorhabditis elegans)
Secernentea acbp-5 33
  • 43.83 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACBP1 33
  • 48.1 (n)
rice
(Oryza sativa)
Liliopsida Os04g0681900 33
  • 49.48 (n)
Species where no ortholog for ACBD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACBD6 Gene

ENSEMBL:
Gene Tree for ACBD6 (if available)
TreeFam:
Gene Tree for ACBD6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACBD6: view image

Paralogs for ACBD6 Gene

Paralogs for ACBD6 Gene

genes like me logo Genes that share paralogs with ACBD6: view

Variants for ACBD6 Gene

Sequence variations from dbSNP and Humsavar for ACBD6 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs116482990 likely-benign, Combined Pituitary Hormone Deficiency, Dominant 180,274,596(-) C/A/T genic_downstream_transcript_variant, non_coding_transcript_variant
rs121912641 pathogenic, Pituitary hormone deficiency, combined 4 180,271,856(-) G/C genic_downstream_transcript_variant, non_coding_transcript_variant
rs121912643 pathogenic, Pituitary hormone deficiency, combined 4 180,271,497(-) T/G genic_downstream_transcript_variant, non_coding_transcript_variant
rs121912644 pathogenic, Pituitary hormone deficiency, combined 4 180,274,568(-) C/A genic_downstream_transcript_variant, non_coding_transcript_variant
rs138054044 likely-benign, Combined Pituitary Hormone Deficiency, Dominant 180,274,605(-) C/G/T genic_downstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ACBD6 Gene

Variant ID Type Subtype PubMed ID
nsv957237 CNV deletion 24416366
nsv952296 CNV duplication 24416366
nsv946528 CNV duplication 23825009
nsv832004 CNV gain 17160897
nsv548345 CNV gain 21841781
nsv527918 CNV gain 19592680
nsv477185 CNV novel sequence insertion 20440878
nsv476151 CNV novel sequence insertion 20440878
nsv466239 CNV gain 19166990
nsv3766 CNV insertion 18451855
nsv1068334 CNV deletion 25765185
nsv1014937 CNV loss 25217958
nsv1009742 CNV loss 25217958
nsv1003359 CNV gain 25217958
esv6088 CNV loss 19470904
esv5032 CNV loss 18987735
esv3588068 CNV loss 21293372
esv3588067 CNV loss 21293372
esv3588066 CNV loss 21293372
esv3543267 CNV deletion 23714750
esv2762200 CNV gain 21179565
esv2719918 CNV deletion 23290073
esv2673419 CNV deletion 23128226
esv2664302 CNV deletion 23128226
esv2650355 CNV deletion 19546169
esv2576257 CNV deletion 19546169
esv2136642 CNV deletion 18987734
esv1123070 CNV deletion 17803354
esv1001564 CNV deletion 20482838
dgv228n106 CNV deletion 24896259
dgv15e215 CNV deletion 23714750

Variation tolerance for ACBD6 Gene

Residual Variation Intolerance Score: 28.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACBD6 Gene

Human Gene Mutation Database (HGMD)
ACBD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACBD6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACBD6 Gene

Disorders for ACBD6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ACBD6 Gene - From: HGMD and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACBD6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACBD6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACBD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACBD6 Gene

Publications for ACBD6 Gene

  1. Characterization of an acyl-coenzyme A binding protein predominantly expressed in human primitive progenitor cells. (PMID: 18268358) Soupene E … Kuypers FA (Journal of lipid research 2008) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Identification of genes related to consecutive trauma-induced sepsis via gene expression profiling analysis. (PMID: 29642183) Dong L … Su L (Medicine 2018) 3 58

Products for ACBD6 Gene

Sources for ACBD6 Gene

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