ACBD6 Gene (Protein Coding)

Acyl-CoA Binding Domain Containing 6

GC01M181429
GIFtS:
35
See more...

Aliases for ACBD6 Gene

Aliases for ACBD6 Gene

  • Acyl-CoA Binding Domain Containing 6 2 3 5
  • Acyl-CoA-Binding Domain-Containing Protein 6 3 4
  • Acyl-Coenzyme A Binding Domain Containing 6 2 3
  • MGC2404 2
  • ACBD6 5

External Ids for ACBD6 Gene

Previous GeneCards Identifiers for ACBD6 Gene

  • GC01M177496
  • GC01M176989
  • GC01M178523
  • GC01M180244
  • GC01M151488
  • GC01M180270
  • GC01M180971
  • GC01M181060
  • GC01M181076
  • GC01M181289
  • GC01M180336
  • GC01M180404
  • GC01M180430
  • GC01M180524
  • GC01M180612
  • GC01M180710
  • GC01M180801
  • GC01M180895

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, 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.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ACBD6 Gene

Genomics for ACBD6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH01J180499 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 612.8 +1.2 1229 4.6 SP1 GATAD2A HNRNPL PRDM10 ZNF629 TFE3 ZNF512 SIX5 LEF1 KDM1A LHX4-AS1 ACBD6 LHX4 CEP350 ENSG00000243155 MIR3121
GH01J180584 Enhancer 1.2 FANTOM5 ENCODE 18.5 -83.2 -83190 2.7 GATAD2A HNRNPL ZNF512 LEF1 IKZF1 ETV6 JUND FOXA1 DDX20 MTA2 ACBD6 LHX4 XPR1 CEP350 MR1 HSALNG0008820 HSALNG0008821
GH01J180524 Enhancer 0.8 Ensembl 21.2 -23.4 -23446 3.2 IKZF1 JUND PRDM1 PKNOX1 MTA1 ZNF24 DPF2 SOX6 ZBTB20 CBX3 MG828455 ACBD6 XPR1 KIAA1614 LINC02816 ENSG00000243155 LHX4 HSALNG0008813 OVAAL
GH01J180290 Enhancer 0.9 Ensembl 16.7 +211.8 211753 1.6 GATAD2A RCOR2 BACH1 RXRB IKZF2 KAT8 SP1 ZNF24 DPF2 SOX6 ACBD6 LHX4 piR-42030 piR-58308-022 lnc-TOR1AIP2-8 LHX4-AS1
GH01J180519 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 17.5 -16.9 -16864 1.6 IKZF1 NFIL3 RARA HLF ENSG00000206905 KY994054-002 ACBD6 XPR1 MG828455 OVAAL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACBD6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACBD6

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

Genomic Locations for ACBD6 Gene

Genomic Locations for ACBD6 Gene
chr1:180,269,653-180,502,954
(GRCh38/hg38)
Size:
233,302 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 Structure • Gene Density

RefSeq DNA sequence for ACBD6 Gene

Proteins for ACBD6 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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.

    Three dimensional structures from OCA and Proteopedia for ACBD6 Gene

neXtProt entry for ACBD6 Gene

Protein Expression for ACBD6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Protein Domains for ACBD6 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Acyl-coA-binding protein, ACBP
ProtoNet:

Suggested Antigen Peptide Sequences for ACBD6 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-CoA-binding domain-containing protein 6 (ACBD6_HUMAN)
genes like me logo Genes that share domains with ACBD6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ACBD6 Gene

Function for ACBD6 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

Phenotypes From GWAS Catalog for ACBD6 Gene

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 IPI 26621918
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with ACBD6: view

Phenotypes for ACBD6 Gene

GenomeRNAi human phenotypes for ACBD6:
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

No data available for Enzyme Numbers (IUBMB) , 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

Cytoplasm.

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

No data available for Subcellular locations from COMPARTMENTS for ACBD6 Gene

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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ACBD6 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for ACBD6 Gene

GeneLoc Exon Structure for
ACBD6

Expression for ACBD6 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for ACBD6 Gene
mRNA expression by GTEx for ACBD6 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.
genes like me logo Genes that share expression patterns with ACBD6: view

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from 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 30
  • 99.53 (n)
Dog
(Canis familiaris)
 Mammalia ACBD6 30
  • 90.43 (n)
Cow
(Bos Taurus)
 Mammalia ACBD6 30
  • 90.31 (n)
Rat
(Rattus norvegicus)
 Mammalia Acbd6 30
  • 87.12 (n)
Mouse
(Mus musculus)
 Mammalia Acbd6 30 17
  • 86.52 (n)
Chicken
(Gallus gallus)
 Aves ACBD6 30
  • 74.03 (n)
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia acbd6 30
  • 65.65 (n)
Str.87 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.6444 30
Zebrafish
(Danio rerio)
 Actinopterygii acbd6 30
  • 67.37 (n)
wufc18d09 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5351 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000752 30
  • 46.88 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG33713 30
  • 43.71 (n)
Worm
(Caenorhabditis elegans)
 Secernentea acbp-5 30
  • 43.83 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ACBP1 30
  • 48.1 (n)
Rice
(Oryza sativa)
 Liliopsida Os04g0681900 30
  • 49.48 (n)
Species where no ortholog for ACBD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

No data available for Paralogs for ACBD6 Gene

Variants for ACBD6 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACBD6 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
720999 Benign: not provided 180,271,918(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
726272 Benign: not provided 180,502,171(-) A/G SYNONYMOUS_VARIANT
738533 Likely Benign: not provided 180,274,459(-) G/A SYNONYMOUS_VARIANT
744423 Likely Benign: not provided 180,274,376(-) G/A MISSENSE_VARIANT
746157 Likely Benign: not provided 180,274,375(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ACBD6 Gene

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

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

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

(1) MalaCards diseases for ACBD6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
pituitary hormone deficiency, combined, 1
  • cphd1
- 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
  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 41
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for ACBD6 gene in Mastermind

Products for ACBD6 Gene

Sources for ACBD6 Gene