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Aliases for ACBD5 Gene

Aliases for ACBD5 Gene

  • Acyl-CoA Binding Domain Containing 5 2 3 5
  • Acyl-Coenzyme A Binding Domain Containing 5 2
  • KIAA1996 4

External Ids for ACBD5 Gene

Previous GeneCards Identifiers for ACBD5 Gene

  • GC10M027489
  • GC10M027488
  • GC10M027525
  • GC10M027484
  • GC10M027152

Summaries for ACBD5 Gene

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 related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for ACBD5 Gene

ACBD5 (Acyl-CoA Binding Domain Containing 5) is a Protein Coding gene. Diseases associated with ACBD5 include Fundus Dystrophy. 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 ACBD4.

UniProtKB/Swiss-Prot for ACBD5 Gene

  • Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters.

Additional gene information for ACBD5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACBD5 Gene

Genomics for ACBD5 Gene

GeneHancer (GH) Regulatory Elements for ACBD5 Gene

Promoters and enhancers for ACBD5 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
GH10I027238 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.1 +0.6 643 5.3 CLOCK DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 MEF2D ZNF610 GLIS1 ACBD5 ENSG00000262412 MASTL YME1L1 ANKRD26 ABI1 RNU7-12P
GH10I027285 Enhancer 0.5 ENCODE 12.3 -43.1 -43148 0.2 CTCF ATF4 GATA3 ZNF654 NRF1 ZNF24 RAD21 ARMC4P1 ACBD5 LOC102724245 LRRC37A6P
GH10I026856 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.8 +382.7 382706 5.4 HDGF FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ABI1 MASTL RNU6-946P ENSG00000223027 PDSS1 ACBD5 APBB1IP YME1L1 GC10P026852
GH10I026778 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 2.7 +461.3 461285 4.2 MEIS2 PKNOX1 JUN EBF1 FEZF1 CTBP1 FOSL2 ETV6 FOS BCLAF1 ABI1 MASTL PDSS1 ACBD5 ENSG00000223027 GC10P026755 GC10M026780
GH10I027143 Enhancer 0.3 ENCODE 10.5 +98.2 98232 0.2 ZBTB33 ACBD5 YME1L1 MASTL ANKRD26
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACBD5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACBD5 gene promoter:

Genomic Locations for ACBD5 Gene

Genomic Locations for ACBD5 Gene
chr10:27,195,214-27,242,139
(GRCh38/hg38)
Size:
46,926 bases
Orientation:
Minus strand
chr10:27,484,143-27,531,068
(GRCh37/hg19)

Genomic View for ACBD5 Gene

Genes around ACBD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACBD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACBD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACBD5 Gene

Proteins for ACBD5 Gene

  • Protein details for ACBD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T8D3-ACBD5_HUMAN
    Recommended name:
    Acyl-CoA-binding domain-containing protein 5
    Protein Accession:
    Q5T8D3
    Secondary Accessions:
    • B3KQ56
    • D3DRW0
    • Q5T8D4
    • Q5T8E1
    • Q5T8E2
    • Q86UV1
    • Q8N6E3
    • Q9UFB5

    Protein attributes for ACBD5 Gene

    Size:
    534 amino acids
    Molecular mass:
    60092 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH30555.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ACBD5 Gene

    Alternative splice isoforms for ACBD5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACBD5 Gene

Post-translational modifications for ACBD5 Gene

  • Ubiquitination at Lys469
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACBD5 Gene

Domains & Families for ACBD5 Gene

Gene Families for ACBD5 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q5T8D3

UniProtKB/Swiss-Prot:

ACBD5_HUMAN :
  • Belongs to the ATG37 family.
Family:
  • Belongs to the ATG37 family.
genes like me logo Genes that share domains with ACBD5: view

Function for ACBD5 Gene

Molecular function for ACBD5 Gene

UniProtKB/Swiss-Prot Function:
Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters.

Phenotypes From GWAS Catalog for ACBD5 Gene

Gene Ontology (GO) - Molecular Function for ACBD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0003674 molecular_function ND --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with ACBD5: view
genes like me logo Genes that share phenotypes with ACBD5: view

Animal Models for ACBD5 Gene

MGI Knock Outs for ACBD5:

Animal Model Products

CRISPR Products

miRNA for ACBD5 Gene

miRTarBase miRNAs that target ACBD5

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACBD5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACBD5 Gene

Localization for ACBD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACBD5 Gene

Peroxisome membrane; Single-pass membrane protein.

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 ACBD5 gene
Compartment Confidence
peroxisome 5
nucleus 5
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACBD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005777 peroxisome IDA 24535825
GO:0005778 peroxisomal membrane TAS --
GO:0016020 membrane HDA,IEA 19946888
genes like me logo Genes that share ontologies with ACBD5: view

Pathways & Interactions for ACBD5 Gene

genes like me logo Genes that share pathways with ACBD5: view

Pathways by source for ACBD5 Gene

Gene Ontology (GO) - Biological Process for ACBD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006914 autophagy IEA --
GO:0009062 fatty acid catabolic process TAS --
GO:0016236 NOT macroautophagy IMP 24535825
GO:0030242 autophagy of peroxisome IEA,IMP 24535825
genes like me logo Genes that share ontologies with ACBD5: view

No data available for SIGNOR curated interactions for ACBD5 Gene

Drugs & Compounds for ACBD5 Gene

(2) Drugs for ACBD5 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 ACBD5 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with ACBD5: view

Transcripts for ACBD5 Gene

Unigene Clusters for ACBD5 Gene

Acyl-CoA binding domain containing 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACBD5

Alternative Splicing Database (ASD) splice patterns (SP) for ACBD5 Gene

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:
SP6: - - -
SP7: -

Relevant External Links for ACBD5 Gene

GeneLoc Exon Structure for
ACBD5
ECgene alternative splicing isoforms for
ACBD5

Expression for ACBD5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACBD5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACBD5 Gene

This gene is overexpressed in Lung (24.2), Bone (15.6), and Testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACBD5 Gene



Protein tissue co-expression partners for ACBD5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACBD5 Gene:

ACBD5

SOURCE GeneReport for Unigene cluster for ACBD5 Gene:

Hs.530597

Evidence on tissue expression from TISSUES for ACBD5 Gene

  • Liver(4.3)
  • Blood(4.1)
  • Nervous system(3.8)
genes like me logo Genes that share expression patterns with ACBD5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACBD5 Gene

Orthologs for ACBD5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACBD5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACBD5 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia ACBD5 33 34
  • 89.75 (n)
cow
(Bos Taurus)
Mammalia ACBD5 33 34
  • 86.37 (n)
mouse
(Mus musculus)
Mammalia Acbd5 33 16 34
  • 84.91 (n)
rat
(Rattus norvegicus)
Mammalia Acbd5 33
  • 84.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACBD5 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACBD5 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACBD5 33 34
  • 72.38 (n)
lizard
(Anolis carolinensis)
Reptilia ACBD5 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acbd5 33
  • 63.78 (n)
Str.7418 33
zebrafish
(Danio rerio)
Actinopterygii acbd5a 33 34
  • 55.32 (n)
acbd5b 34
  • 33 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8814 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acbp-3 34
  • 32 (a)
ManyToMany
acbp-4 34
  • 32 (a)
ManyToMany
maa-1 34
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToMany
Species where no ortholog for ACBD5 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)
  • 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)
  • 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 ACBD5 Gene

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

Paralogs for ACBD5 Gene

Paralogs for ACBD5 Gene

(6) SIMAP similar genes for ACBD5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ACBD5: view

Variants for ACBD5 Gene

Sequence variations from dbSNP and Humsavar for ACBD5 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs10741130 benign, likely-benign, not specified, Thrombocytopenia 27,186,515(-) T/C genic_downstream_transcript_variant, intron_variant
rs10764686 benign, likely-benign, not specified, Thrombocytopenia 27,186,565(-) T/C genic_downstream_transcript_variant, intron_variant
rs10764687 likely-benign, Thrombocytopenia 27,186,650(-) A/G genic_downstream_transcript_variant, intron_variant
rs1338 likely-benign, Thrombocytopenia 27,186,764(-) T/C genic_downstream_transcript_variant, intron_variant
rs570707157 uncertain-significance, Thrombocytopenia 27,186,668(-) G/A/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACBD5 Gene

Variant ID Type Subtype PubMed ID
esv2422253 CNV deletion 17116639
esv2664616 CNV deletion 23128226
esv2762849 CNV gain 21179565
esv3622708 CNV gain 21293372
esv3622710 CNV gain 21293372
nsv1116452 OTHER inversion 24896259
nsv8614 CNV loss 18304495

Variation tolerance for ACBD5 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.63; 72.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACBD5 Gene

Human Gene Mutation Database (HGMD)
ACBD5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACBD5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACBD5 Gene

Disorders for ACBD5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACBD5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search ACBD5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACBD5

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 ACBD5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACBD5 Gene

Publications for ACBD5 Gene

  1. Peroxisomal Atg37 binds Atg30 or palmitoyl-CoA to regulate phagophore formation during pexophagy. (PMID: 24535825) Nazarko TY … Subramani S (The Journal of cell biology 2014) 3 4 58
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PMID: 12056414) Ohara O … Koseki H (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ACBD5 Gene

  • Addgene plasmids for ACBD5

Sources for ACBD5 Gene

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