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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 Metabolism and Peroxisomal lipid metabolism. 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.

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

Regulatory Elements for ACBD5 Gene

Enhancers for ACBD5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G027285 0.6 ENCODE 12.3 -43.1 -43148 0.2 CTCF ZNF654 GATA3 NRF1 SMC3 ZNF24 RAD21 ARMC4P1 ACBD5 LOC102724245 LRRC37A6P
GH10G027291 0.4 Ensembl 11.4 -49.5 -49462 0.8 IRF1 ARMC4P1 RNU7-12P RNU6-452P ACBD5 YME1L1 MASTL LOC102724245 LRRC37A6P
GH10G026778 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.7 +461.3 461286 4.2 PKNOX1 JUN FEZF1 EBF1 CTBP1 EED FOSL2 FOS ETV6 IKZF2 ABI1 MASTL PDSS1 ACBD5 ENSG00000223027 GC10P026755
GH10G027143 0.4 ENCODE 10.5 +98.2 98233 0.2 ZBTB33 ACBD5 MASTL ANKRD26
GH10G027238 1.9 FANTOM5 ENCODE dbSUPER 2 +0.6 643 5.3 CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 MEF2D ZNF610 GLIS1 NBN MASTL ANKRD26 ABI1 ACBD5 YME1L1 RNU7-12P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACBD5 on UCSC Golden Path with GeneCards custom track

Promoters for ACBD5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000025843 839 4201 CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 MEF2D ZNF610 GLIS1 NBN

Genomic Location for ACBD5 Gene

Chromosome:
10
Start:
27,195,214 bp from pter
End:
27,242,139 bp from pter
Size:
46,926 bases
Orientation:
Minus strand

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

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

No data available for Gene Families for ACBD5 Gene

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.

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

Inhibitory RNA Products

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

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 IDA,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 pexophagy 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

(1) Drugs for ACBD5 Gene - From: HMDB

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

(31) 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

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

Primer Products

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 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia ACBD5 34 35
  • 89.75 (n)
cow
(Bos Taurus)
Mammalia ACBD5 34 35
  • 86.37 (n)
mouse
(Mus musculus)
Mammalia Acbd5 34 16 35
  • 84.91 (n)
rat
(Rattus norvegicus)
Mammalia Acbd5 34
  • 84.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACBD5 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACBD5 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACBD5 34 35
  • 72.38 (n)
lizard
(Anolis carolinensis)
Reptilia ACBD5 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acbd5 34
  • 63.78 (n)
Str.7418 34
zebrafish
(Danio rerio)
Actinopterygii acbd5a 34 35
  • 55.32 (n)
acbd5b 35
  • 33 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8814 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acbp-3 35
  • 32 (a)
ManyToMany
acbp-4 35
  • 32 (a)
ManyToMany
maa-1 35
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs10741130 Likely benign 27,186,515(+) CTGAC(C/T)GTATC intron-variant, nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon
rs10764686 Likely benign 27,186,565(+) AGCCT(C/T)GTGTT intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs10764687 Likely benign 27,186,650(+) AGTTC(A/G)ATGTG intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1338 Likely benign 27,186,764(-) AAATA(A/G)ATGAA intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs570707157 Uncertain significance 27,186,668(+) TGTAC(A/G/T)TTACA intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links for ACBD5 Gene

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

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

Relevant External Links for ACBD5

Genetic Association Database (GAD)
ACBD5
Human Genome Epidemiology (HuGE) Navigator
ACBD5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACBD5
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 T.Y. … Subramani S. (J. Cell Biol. 2014) 3 4 64
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PMID: 12056414) Ohara O. … Koseki H. (DNA Res. 2002) 2 3 64
  5. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3 64

Products for ACBD5 Gene

  • Addgene plasmids for ACBD5

Sources for ACBD5 Gene

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