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, ... See more...

Aliases for ACBD4 Gene

Aliases for ACBD4 Gene

  • Acyl-CoA Binding Domain Containing 4 2 3 5
  • Acyl-CoA-Binding Domain-Containing Protein 4 3 4
  • Acyl-Coenzyme A Binding Domain Containing 4 2 3
  • HMFT0700 3

External Ids for ACBD4 Gene

Previous GeneCards Identifiers for ACBD4 Gene

  • GC17P043685
  • GC17P043688
  • GC17P040565
  • GC17P043209
  • GC17P038976

Summaries for ACBD4 Gene

Entrez Gene Summary for ACBD4 Gene

  • 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]

GeneCards Summary for ACBD4 Gene

ACBD4 (Acyl-CoA Binding Domain Containing 4) is a Protein Coding gene. Among its related pathways are Peroxisomal lipid metabolism and Metabolism. 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 Summary for ACBD4 Gene

  • Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters.

Additional gene information for ACBD4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACBD4 Gene

Genomics for ACBD4 Gene

GeneHancer (GH) Regulatory Elements for ACBD4 Gene

Promoters and enhancers for ACBD4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACBD4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACBD4 gene promoter:
  • E47
  • Hand1
  • Nkx2-5
  • Pax-4a

Genomic Locations for ACBD4 Gene

Genomic Locations for ACBD4 Gene
chr17:45,132,600-45,144,181
(GRCh38/hg38)
Size:
11,582 bases
Orientation:
Plus strand
chr17:43,209,967-43,221,548
(GRCh37/hg19)
Size:
11,582 bases
Orientation:
Plus strand

Genomic View for ACBD4 Gene

Genes around ACBD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACBD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACBD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACBD4 Gene

Proteins for ACBD4 Gene

  • Protein details for ACBD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NC06-ACBD4_HUMAN
    Recommended name:
    Acyl-CoA-binding domain-containing protein 4
    Protein Accession:
    Q8NC06
    Secondary Accessions:
    • D3DX64
    • Q8IUT1
    • Q9H8Q4

    Protein attributes for ACBD4 Gene

    Size:
    268 amino acids
    Molecular mass:
    30308 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ACBD4 Gene

    Alternative splice isoforms for ACBD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACBD4 Gene

Post-translational modifications for ACBD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACBD4 Gene

Domains & Families for ACBD4 Gene

Gene Families for ACBD4 Gene

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

Suggested Antigen Peptide Sequences for ACBD4 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-CoA-binding domain-containing protein 4 (ACBD4_HUMAN)
genes like me logo Genes that share domains with ACBD4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ACBD4 Gene

Function for ACBD4 Gene

Molecular function for ACBD4 Gene

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

Phenotypes From GWAS Catalog for ACBD4 Gene

Gene Ontology (GO) - Molecular Function for ACBD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0005515 protein binding IPI --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with ACBD4: view
genes like me logo Genes that share phenotypes with ACBD4: view

Animal Model Products

CRISPR Products

miRNA for ACBD4 Gene

miRTarBase miRNAs that target ACBD4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACBD4

Clone Products

  • Addgene plasmids for ACBD4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACBD4 Gene

Localization for ACBD4 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 ACBD4 gene
Compartment Confidence
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACBD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ACBD4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ACBD4 Gene

Pathways & Interactions for ACBD4 Gene

PathCards logo

SuperPathways for ACBD4 Gene

genes like me logo Genes that share pathways with ACBD4: view

Pathways by source for ACBD4 Gene

Interacting Proteins for ACBD4 Gene

Gene Ontology (GO) - Biological Process for ACBD4 Gene

None

No data available for SIGNOR curated interactions for ACBD4 Gene

Drugs & Compounds for ACBD4 Gene

(2) Drugs for ACBD4 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 ACBD4 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 ACBD4: view

Transcripts for ACBD4 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACBD4

Clone Products

  • Addgene plasmids for ACBD4

Alternative Splicing Database (ASD) splice patterns (SP) for ACBD4 Gene

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: - - - - - - -
SP6: - -
SP7: -
SP8:
SP9: - -
SP10: -

ExUns: 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ACBD4 Gene

GeneLoc Exon Structure for
ACBD4
ECgene alternative splicing isoforms for
ACBD4

Expression for ACBD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACBD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACBD4 Gene

This gene is overexpressed in Liver (x4.8).

Protein differential expression in normal tissues from HIPED for ACBD4 Gene

This gene is overexpressed in Monocytes (67.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACBD4 Gene



Protein tissue co-expression partners for ACBD4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACBD4 Gene:

ACBD4

SOURCE GeneReport for Unigene cluster for ACBD4 Gene:

Hs.110298

Evidence on tissue expression from TISSUES for ACBD4 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with ACBD4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACBD4 Gene

Orthologs for ACBD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACBD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACBD4 33 32
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACBD4 33 32
  • 87.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACBD4 33 32
  • 84.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acbd4 17 33 32
  • 83.67 (n)
rat
(Rattus norvegicus)
Mammalia Acbd4 32
  • 83.56 (n)
oppossum
(Monodelphis domestica)
Mammalia ACBD4 33
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACBD4 33
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC780283 32
  • 57.64 (n)
zebrafish
(Danio rerio)
Actinopterygii acbd4 33 32
  • 53.23 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8814 33
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acbp-3 33
  • 34 (a)
ManyToMany
acbp-4 33
  • 31 (a)
ManyToMany
maa-1 33
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 21 (a)
OneToMany
Species where no ortholog for ACBD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACBD4 Gene

ENSEMBL:
Gene Tree for ACBD4 (if available)
TreeFam:
Gene Tree for ACBD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACBD4: view image

Paralogs for ACBD4 Gene

Paralogs for ACBD4 Gene

(4) SIMAP similar genes for ACBD4 Gene using alignment to 3 proteins:

  • ACBD4_HUMAN
  • K7EM05_HUMAN
  • K7EMH4_HUMAN
genes like me logo Genes that share paralogs with ACBD4: view

Variants for ACBD4 Gene

Sequence variations from dbSNP and Humsavar for ACBD4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000037052 -- 45,132,545(+) G/C upstream_transcript_variant
rs1000165344 -- 45,136,307(+) T/C intron_variant
rs1000499129 -- 45,130,704(+) C/T upstream_transcript_variant
rs1000762805 -- 45,142,971(+) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1001063151 -- 45,132,259(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ACBD4 Gene

Variant ID Type Subtype PubMed ID
esv1790779 OTHER inversion 17803354
esv2061968 CNV deletion 18987734
esv2516666 CNV deletion 19546169
esv2666936 CNV deletion 23128226
nsv1146669 OTHER inversion 26484159
nsv527788 CNV loss 19592680
nsv828022 CNV gain 20364138
nsv953903 CNV deletion 24416366

Variation tolerance for ACBD4 Gene

Residual Variation Intolerance Score: 88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACBD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACBD4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACBD4 Gene

Disorders for ACBD4 Gene

Additional Disease Information for ACBD4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ACBD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACBD4 Gene

Publications for ACBD4 Gene

  1. Peroxisomal ACBD4 interacts with VAPB and promotes ER-peroxisome associations. (PMID: 28463579) Costello JL … Schrader M (Cell cycle (Georgetown, Tex.) 2017) 2 3 56
  2. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 43 56
  3. Genome-wide association study identifies eight loci associated with blood pressure. (PMID: 19430483) Newton-Cheh C … Munroe PB (Nature genetics 2009) 3 43 56
  4. 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. (PMID: 15221005) Yamada S … Nakagawara A (Oncogene 2004) 3 4 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for ACBD4 Gene

Sources for ACBD4 Gene