Aliases for ACBD5 Gene
Aliases for ACBD5 Gene
External Ids for ACBD5 Gene
- HGNC: 23338
- Entrez Gene: 91452
- Ensembl: ENSG00000107897
- OMIM: 616618
- UniProtKB: Q5T8D3
Previous GeneCards Identifiers for ACBD5 Gene
- GC10M027489
- GC10M027488
- GC10M027525
- GC10M027484
- GC10M027152
Summaries 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 | 11.5 | -49.5 | -49462 | 0.8 | IRF1 | ARMC4P1 RNU7-12P RNU6-452P ACBD5 YME1L1 MASTL LOC102724245 LRRC37A6P |
| GH10G026778 | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 2.7 | +461.3 | 461286 | 4.2 | PKNOX1 JUN FEZF1 EBF1 CTBP1 POLR2A EED FOSL2 FOS ETV6 | 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
- Transcription factor binding sites by QIAGEN in the ACBD5 gene promoter:
Regulatory Element Products
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:
-
- 10p12.1 by Ensembl
- 10p12.1 by Entrez Gene
- 10p12.1 by HGNC
ACBD5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ACBD5 Gene
Post-translational modifications for ACBD5 Gene
Other Protein References for ACBD5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001035938.1
- NP_001258441.1
- NP_001288180.1
- NP_001288181.1
- NP_001288182.1
- NP_001288183.1
- NP_663736.2
- XP_006717591.3
- XP_006717593.1
- XP_006717594.1
- XP_006717598.1
- XP_016872373.1
- XP_016872374.1
- XP_016872375.1
- XP_016872376.1
- XP_016872377.1
- XP_016872378.1
- XP_016872379.1
- XP_016872380.1
- XP_016872381.1
- XP_016872382.1
- XP_016872383.1
- XP_016872384.1
- XP_016872385.1
- XP_016872386.1
- XP_016872387.1
- XP_016872388.1
- XP_016872389.1
- XP_016872390.1
- XP_016872391.1
- XP_016872392.1
- XP_016872393.1
- XP_016872394.1
- XP_016872395.1
- XP_016872396.1
- XP_016872397.1
Antibody Products
- Novus Biologicals Antibodies for ACBD5
-
Abcam antibodies for ACBD5
- Invitrogen Antibodies for ACBD5
- antibodies-online Antibodies for ACBD5: See all 14
- GeneTex ACBD5 antibody for ACBD5
Protein Products
-
OriGene Purified Proteins for ACBD5
- Search Origene for MassSpec and Protein Over-expression Lysates for ACBD5
- Origene Custom Protein Services for ACBD5
- antibodies-online Proteins for ACBD5: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ACBD5
-
Abcam proteins for ACBD5
Assay Products
- antibodies-online Kits for ACBD5: See all 6
No data available for DME Specific Peptides for ACBD5 Gene
Domains & Families for ACBD5 Gene
Protein Domains for ACBD5 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACBD5 Gene
Graphical View of Domain Structure for InterPro Entry
Q5T8D3- Family:
-
- Belongs to the ATG37 family.
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.
| 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 | -- |
Phenotypes for ACBD5 Gene
- MGI mutant phenotypes for ACBD5:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ACBD5:
Animal Models for ACBD5 Gene
- MGI Knock Outs for ACBD5:
-
- Acbd5 tm1b(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACBD5
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ACBD5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ACBD5 gene
- Search ViGene Biosciences for ACBD5
CRISPR Products
-
OriGene CRISPR knockouts for ACBD5
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACBD5
- GenScript: Design CRISPR guide RNA sequences for ACBD5
miRNA for ACBD5 Gene
- miRTarBase miRNAs that target ACBD5
-
- hsa-mir-21-5p (MIRT031018)
- hsa-mir-16-5p (MIRT031914)
- hsa-mir-190a-3p (MIRT177361)
- hsa-mir-5011-5p (MIRT177367)
- hsa-mir-20a-5p (MIRT441293)
- hsa-mir-106b-5p (MIRT441294)
- hsa-mir-5010-3p (MIRT549468)
- hsa-mir-548aw (MIRT549469)
- hsa-mir-4671-3p (MIRT549470)
- hsa-mir-223-5p (MIRT549471)
- hsa-mir-6073 (MIRT549472)
- hsa-mir-1468-3p (MIRT549473)
- hsa-mir-548x-5p (MIRT549474)
- hsa-mir-548g-5p (MIRT549475)
- hsa-mir-548f-5p (MIRT549476)
- hsa-mir-548aj-5p (MIRT549477)
- hsa-mir-1282 (MIRT549478)
- hsa-mir-5707 (MIRT549479)
- hsa-mir-511-3p (MIRT549480)
- hsa-mir-4801 (MIRT549481)
- hsa-mir-4731-3p (MIRT549482)
- hsa-mir-1277-5p (MIRT549483)
- hsa-mir-142-3p (MIRT549484)
- hsa-mir-130b-3p (MIRT549485)
- hsa-mir-130a-3p (MIRT549486)
- hsa-mir-301a-3p (MIRT549487)
- hsa-mir-301b-3p (MIRT549488)
- hsa-mir-3666 (MIRT549489)
- hsa-mir-4295 (MIRT549490)
- hsa-mir-454-3p (MIRT549491)
- hsa-mir-19a-3p (MIRT549492)
- hsa-mir-19b-3p (MIRT549493)
- hsa-mir-3668 (MIRT705961)
- hsa-mir-4465 (MIRT705962)
- hsa-mir-26b-5p (MIRT705963)
- hsa-mir-26a-5p (MIRT705964)
- hsa-mir-1297 (MIRT705965)
- hsa-mir-4540 (MIRT705966)
- hsa-mir-6723-5p (MIRT705967)
- hsa-mir-545-3p (MIRT705968)
- hsa-mir-195-3p (MIRT705969)
- hsa-mir-16-2-3p (MIRT705970)
- hsa-mir-5697 (MIRT705971)
- hsa-mir-4272 (MIRT705972)
- hsa-mir-6838-3p (MIRT705973)
- hsa-mir-3942-5p (MIRT705974)
- hsa-mir-4703-5p (MIRT705975)
- hsa-mir-519d-3p (MIRT728401)
- hsa-mir-93-5p (MIRT728402)
- hsa-mir-20b-5p (MIRT728403)
- hsa-mir-17-5p (MIRT728404)
miRNA Products
- Search ViGene Biosciences for ACBD5
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ACBD5
- Browse OriGene Inhibitory RNA Products For ACBD5
-
ViGene Biosciences ready-to-package AAV shRNAs for ACBD5 gene
Clone Products
-
OriGene ORF clones in human for ACBD5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACBD5
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ACBD5
- VectorBuilder custom plasmid, inducible vectors for ACBD5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACBD5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ACBD5
-
ViGene Biosciences adenoviral particle packaged cDNA for ACBD5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ACBD5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ACBD5 gene
Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| peroxisome | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| 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 |
Pathways & Interactions for ACBD5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 2 | Peroxisomal lipid metabolism | ||
Pathways by source for ACBD5 Gene
3 Reactome pathways for ACBD5 Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for ACBD5 Gene
Drugs & Compounds for ACBD5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Propionyl-CoA | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
| (2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
| (2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
| (2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
| (2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
Transcripts for ACBD5 Gene
mRNA/cDNA for ACBD5 Gene
- (36) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (116) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ACBD5 Gene
- Acyl-CoA binding domain containing 5:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for ACBD5
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACBD5
- GenScript: Design CRISPR guide RNA sequences for ACBD5
miRNA Products
- Search ViGene Biosciences for ACBD5
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ACBD5
- Browse OriGene Inhibitory RNA Products For ACBD5
-
ViGene Biosciences ready-to-package AAV shRNAs for ACBD5 gene
Clone Products
-
OriGene ORF clones in human for ACBD5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACBD5
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ACBD5
- VectorBuilder custom plasmid, inducible vectors for ACBD5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACBD5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: | - |
Expression for ACBD5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Brain (Nervous System)
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
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
NURSA nuclear receptor signaling pathways regulating expression of ACBD5 Gene:
ACBD5SOURCE GeneReport for Unigene cluster for ACBD5 Gene:
Hs.530597Evidence on tissue expression from TISSUES for ACBD5 Gene
- Liver(4.3)
- Blood(4.1)
- Nervous system(3.8)
Primer Products
-
OriGene qPCR primer pairs for ACBD5
-
OriGene qPCR primer pairs and template standards for ACBD5
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ACBD5 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ACBD5 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ACBD5 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Acbd5 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Acbd5 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ACBD5 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ACBD5 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ACBD5 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ACBD5 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | acbd5 34 |
|
||
| Str.7418 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | acbd5a 34 35 |
|
||
| acbd5b 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8814 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | acbp-3 35 |
|
ManyToMany | |
| acbp-4 35 |
|
ManyToMany | |||
| maa-1 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for ACBD5 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACBD5 Gene
Disorders for ACBD5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fundus dystrophy |
|
|
Search ACBD5 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for ACBD5
No data available for UniProtKB/Swiss-Prot and Genatlas for ACBD5 Gene
Publications for ACBD5 Gene
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- 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
- 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
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- Browse R&D Systems for biochemical assays
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- Browse ELISAs
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- Custom Antibody Services
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- OriGene Purified Proteins for ACBD5
- Search Origene for MassSpec and Protein Over-expression Lysates for ACBD5
- Origene Custom Protein Services for ACBD5
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ACBD5
- Browse OriGene Inhibitory RNA Products For ACBD5
- OriGene qPCR primer pairs and template standards for ACBD5
- OriGene qPCR primer pairs for ACBD5
- OriGene CRISPR knockouts for ACBD5
- OriGene ORF clones in human for ACBD5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ACBD5
- GenScript: Next-day shipping cDNA ORF clone for ACBD5 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ACBD5
- GenScript Custom Assay Services for ACBD5
- GenScript Custom overexpressing Cell Line Services for ACBD5
- GenScript: Design CRISPR guide RNA sequences for ACBD5
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ACBD5
- Sino Biological Human cDNA Clone for ACBD5
- Browse Sino Biological Cell Lysates
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- Novus Biologicals Antibodies for ACBD5
- Novus Biologicals proteins and lysates for ACBD5
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for ACBD5
- Abcam proteins for ACBD5
- Search for Assays for ACBD5 at Abcam
- Find your target
- Search knockout validated antibodies
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- Addgene plasmids for ACBD5
- antibodies-online Antibodies for ACBD5: See all 14
- antibodies-online Kits for ACBD5: See all 6
- antibodies-online Proteins for ACBD5: See all 4
- Search antibodies-online for peptides
- GeneTex ACBD5 antibody for ACBD5
- Search GeneTex for Proteins for ACBD5
- ViGene Biosciences adenoviral particle packaged cDNA for ACBD5 gene
- ViGene Biosciences lentiviral particle packaged cDNA for ACBD5 gene
- ViGene Biosciences ready-to-package AAV shRNAs for ACBD5 gene
- Search ViGene Biosciences for ACBD5
- Horizon Cell Lines for ACBD5
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACBD5
- VectorBuilder custom plasmid, inducible vectors for ACBD5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACBD5
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ACBD5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
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- (136) ViGene Biosciences
- (137) HPO
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- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer