UniProtKB - Q5T8D3 (ACBD5_HUMAN)
Protein
Acyl-CoA-binding domain-containing protein 5
Gene
ACBD5
Organism
Homo sapiens (Human)
Status
Functioni
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.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 98 | Acyl-CoA | 1 | |
Binding sitei | 117 | Acyl-CoABy similarity | 1 |
GO - Molecular functioni
- fatty-acyl-CoA binding Source: InterPro
- lipid binding Source: UniProtKB-KW
GO - Biological processi
- autophagy of peroxisome Source: UniProtKB
- fatty acid catabolic process Source: Reactome
Keywordsi
Biological process | Autophagy, Transport |
Ligand | Lipid-binding |
Enzyme and pathway databases
PathwayCommonsi | Q5T8D3 |
Reactomei | R-HSA-390918, Peroxisomal lipid metabolism R-HSA-9603798, Class I peroxisomal membrane protein import |
Protein family/group databases
TCDBi | 1.R.1.1.1, the membrane contact site (mcs) family |
Names & Taxonomyi
Protein namesi | Recommended name: Acyl-CoA-binding domain-containing protein 5 |
Gene namesi | Name:ACBD5 Synonyms:KIAA1996 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23338, ACBD5 |
MIMi | 616618, gene |
neXtProti | NX_Q5T8D3 |
VEuPathDBi | HostDB:ENSG00000107897.18 |
Subcellular locationi
Peroxisome
- Peroxisome membrane By similarity; Single-pass membrane protein By similarity
Nucleus
- nucleoplasm Source: HPA
Peroxisome
- peroxisomal membrane Source: Reactome
- peroxisome Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 506 – 526 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Membrane, PeroxisomePathology & Biotechi
Involvement in diseasei
Retinal dystrophy with leukodystrophy (RDLKD)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by progressive leukodystrophy associated with developmental delay, spastic paraparesis, ataxia, and retinal dystrophy. Patients may show facial dysmorphism. Laboratory investigations reveal an abnormal profile of very-long chain fatty acid in plasma.
Related information in OMIMKeywords - Diseasei
LeukodystrophyOrganism-specific databases
DisGeNETi | 91452 |
MalaCardsi | ACBD5 |
MIMi | 618863, phenotype |
OpenTargetsi | ENSG00000107897 |
PharmGKBi | PA134892991 |
Miscellaneous databases
Pharosi | Q5T8D3, Tbio |
Genetic variation databases
BioMutai | ACBD5 |
DMDMi | 74745508 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000287377 | 1 – 534 | Acyl-CoA-binding domain-containing protein 5Add BLAST | 534 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 193 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 194 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 196 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 200 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 215 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 279 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 313 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 400 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 428 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 469 | N6-acetyllysineBy similarity | 1 | ||
Isoform 4 (identifier: Q5T8D3-4) | |||||
Modified residuei | 63 | PhosphothreonineCombined sources | 1 | ||
Isoform 2 (identifier: Q5T8D3-2) | |||||
Modified residuei | 137 | PhosphothreonineCombined sources | 1 | ||
Isoform 3 (identifier: Q5T8D3-3) | |||||
Modified residuei | 172 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q5T8D3 |
jPOSTi | Q5T8D3 |
MassIVEi | Q5T8D3 |
MaxQBi | Q5T8D3 |
PaxDbi | Q5T8D3 |
PeptideAtlasi | Q5T8D3 |
PRIDEi | Q5T8D3 |
ProteomicsDBi | 64724 [Q5T8D3-1] 64725 [Q5T8D3-2] 64726 [Q5T8D3-3] 64727 [Q5T8D3-4] |
PTM databases
iPTMneti | Q5T8D3 |
PhosphoSitePlusi | Q5T8D3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000107897, Expressed in brain and 220 other tissues |
ExpressionAtlasi | Q5T8D3, baseline and differential |
Genevisiblei | Q5T8D3, HS |
Organism-specific databases
HPAi | ENSG00000107897, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsIsoform 2 [Q5T8D3-2]
With | #Exp. | IntAct |
---|---|---|
GRM2 [Q14416] | 3 | EBI-10961679,EBI-10232876 |
SLC38A7 [Q9NVC3] | 3 | EBI-10961679,EBI-10314552 |
STX1B [P61266] | 3 | EBI-10961679,EBI-9071709 |
TMEM229B [Q8NBD8] | 3 | EBI-10961679,EBI-12195227 |
Protein-protein interaction databases
BioGRIDi | 124836, 45 interactors |
IntActi | Q5T8D3, 26 interactors |
STRINGi | 9606.ENSP00000379568 |
Miscellaneous databases
RNActi | Q5T8D3, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q5T8D3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q5T8D3 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 41 – 130 | ACBPROSITE-ProRule annotationAdd BLAST | 90 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 52 – 61 | Acyl-CoA binding | 10 | |
Regioni | 72 – 76 | Acyl-CoA binding | 5 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 190 – 219 | Sequence analysisAdd BLAST | 30 | |
Coiled coili | 447 – 476 | Sequence analysisAdd BLAST | 30 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 13 – 16 | Poly-Cys | 4 | |
Compositional biasi | 201 – 204 | Poly-Glu | 4 | |
Compositional biasi | 528 – 531 | Poly-Arg | 4 |
Sequence similaritiesi
Belongs to the ATG37 family.Curated
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0817, Eukaryota |
GeneTreei | ENSGT00940000156350 |
HOGENOMi | CLU_034436_0_0_1 |
InParanoidi | Q5T8D3 |
OMAi | EGMPMTD |
OrthoDBi | 1546859at2759 |
PhylomeDBi | Q5T8D3 |
TreeFami | TF319446 |
Family and domain databases
CDDi | cd00435, ACBP, 1 hit |
Gene3Di | 1.20.80.10, 1 hit |
InterProi | View protein in InterPro IPR016347, ACBD5 IPR022408, Acyl-CoA-binding_prot_CS IPR000582, Acyl-CoA-binding_protein IPR035984, Acyl-CoA-binding_sf IPR014352, FERM/acyl-CoA-bd_prot_sf |
Pfami | View protein in Pfam PF00887, ACBP, 1 hit |
PIRSFi | PIRSF002412, MA_DBI, 1 hit |
PRINTSi | PR00689, ACOABINDINGP |
SUPFAMi | SSF47027, SSF47027, 1 hit |
PROSITEi | View protein in PROSITE PS00880, ACB_1, 1 hit PS51228, ACB_2, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5T8D3-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MFQFHAGSWE SWCCCCLIPA DRPWDRGQHW QLEMADTRSV HETRFEAAVK
60 70 80 90 100
VIQSLPKNGS FQPTNEMMLK FYSFYKQATE GPCKLSRPGF WDPIGRYKWD
110 120 130 140 150
AWSSLGDMTK EEAMIAYVEE MKKIIETMPM TEKVEELLRV IGPFYEIVED
160 170 180 190 200
KKSGRSSDIT SVRLEKISKC LEDLGNVLTS TPNAKTVNGK AESSDSGAES
210 220 230 240 250
EEEEAQEEVK GAEQSDNDKK MMKKSADHKN LEVIVTNGYD KDGFVQDIQN
260 270 280 290 300
DIHASSSLNG RSTEEVKPID ENLGQTGKSA VCIHQDINDD HVEDVTGIQH
310 320 330 340 350
LTSDSDSEVY CDSMEQFGQE ESLDSFTSNN GPFQYYLGGH SSQPMENSGF
360 370 380 390 400
REDIQVPPGN GNIGNMQVVA VEGKGEVKHG GEDGRNNSGA PHREKRGGET
410 420 430 440 450
DEFSNVRRGR GHRMQHLSEG TKGRQVGSGG DGERWGSDRG SRGSLNEQIA
460 470 480 490 500
LVLMRLQEDM QNVLQRLQKL ETLTALQAKS STSTLQTAPQ PTSQRPSWWP
510 520 530
FEMSPGVLTF AIIWPFIAQW LVYLYYQRRR RKLN
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB7Z2R7 | B7Z2R7_HUMAN | Acyl-CoA-binding domain-containing ... | ACBD5 | 523 | Annotation score: | ||
Q5T8E0 | Q5T8E0_HUMAN | Acyl-CoA-binding domain-containing ... | ACBD5 | 252 | Annotation score: | ||
X6RDD7 | X6RDD7_HUMAN | Acyl-CoA-binding domain-containing ... | ACBD5 | 251 | Annotation score: | ||
A0A087X0B8 | A0A087X0B8_HUMAN | Acyl-CoA-binding domain-containing ... | ACBD5 | 67 | Annotation score: |
Sequence cautioni
The sequence AAH30555 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 332 | P → Q in AAP30852 (Ref. 1) Curated | 1 | |
Sequence conflicti | 419 | E → D in AAP30852 (Ref. 1) Curated | 1 | |
Sequence conflicti | 478 | A → T in AAP30852 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032301 | 472 | T → M. Corresponds to variant dbSNP:rs7918793Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_025448 | 1 – 107 | Missing in isoform 4. 1 PublicationAdd BLAST | 107 | |
Alternative sequenceiVSP_025447 | 1 – 33 | Missing in isoform 2. 1 PublicationAdd BLAST | 33 | |
Alternative sequenceiVSP_025446 | 1 – 3 | MFQ → MLFLS in isoform 3. 1 Publication | 3 | |
Alternative sequenceiVSP_025449 | 162 – 172 | Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST | 11 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF505653 mRNA Translation: AAP30852.1 AK057469 mRNA Translation: BAG51918.1 AL160291 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86062.1 CH471072 Genomic DNA Translation: EAW86061.1 CH471072 Genomic DNA Translation: EAW86063.1 BC030555 mRNA Translation: AAH30555.1 Different initiation. AL133064 mRNA Translation: CAB61388.1 |
CCDSi | CCDS44368.1 [Q5T8D3-3] CCDS7154.1 [Q5T8D3-2] CCDS76290.1 [Q5T8D3-4] CCDS86078.1 [Q5T8D3-1] |
PIRi | T42665 |
RefSeqi | NP_001035938.1, NM_001042473.3 [Q5T8D3-2] NP_001288180.1, NM_001301251.1 [Q5T8D3-4] NP_001288181.1, NM_001301252.1 [Q5T8D3-4] NP_001288182.1, NM_001301253.1 [Q5T8D3-4] NP_663736.2, NM_145698.4 [Q5T8D3-3] XP_016872396.1, XM_017016907.1 XP_016872397.1, XM_017016908.1 |
Genome annotation databases
Ensembli | ENST00000375888; ENSP00000365049; ENSG00000107897 [Q5T8D3-1] ENST00000375901; ENSP00000365066; ENSG00000107897 [Q5T8D3-4] ENST00000375905; ENSP00000365070; ENSG00000107897 [Q5T8D3-2] ENST00000396271; ENSP00000379568; ENSG00000107897 [Q5T8D3-3] |
GeneIDi | 91452 |
KEGGi | hsa:91452 |
UCSCi | uc001ito.4, human [Q5T8D3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF505653 mRNA Translation: AAP30852.1 AK057469 mRNA Translation: BAG51918.1 AL160291 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86062.1 CH471072 Genomic DNA Translation: EAW86061.1 CH471072 Genomic DNA Translation: EAW86063.1 BC030555 mRNA Translation: AAH30555.1 Different initiation. AL133064 mRNA Translation: CAB61388.1 |
CCDSi | CCDS44368.1 [Q5T8D3-3] CCDS7154.1 [Q5T8D3-2] CCDS76290.1 [Q5T8D3-4] CCDS86078.1 [Q5T8D3-1] |
PIRi | T42665 |
RefSeqi | NP_001035938.1, NM_001042473.3 [Q5T8D3-2] NP_001288180.1, NM_001301251.1 [Q5T8D3-4] NP_001288181.1, NM_001301252.1 [Q5T8D3-4] NP_001288182.1, NM_001301253.1 [Q5T8D3-4] NP_663736.2, NM_145698.4 [Q5T8D3-3] XP_016872396.1, XM_017016907.1 XP_016872397.1, XM_017016908.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3FLV | X-ray | 1.70 | A/B | 41-136 | [»] | |
SMRi | Q5T8D3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124836, 45 interactors |
IntActi | Q5T8D3, 26 interactors |
STRINGi | 9606.ENSP00000379568 |
Protein family/group databases
TCDBi | 1.R.1.1.1, the membrane contact site (mcs) family |
PTM databases
iPTMneti | Q5T8D3 |
PhosphoSitePlusi | Q5T8D3 |
Genetic variation databases
BioMutai | ACBD5 |
DMDMi | 74745508 |
Proteomic databases
EPDi | Q5T8D3 |
jPOSTi | Q5T8D3 |
MassIVEi | Q5T8D3 |
MaxQBi | Q5T8D3 |
PaxDbi | Q5T8D3 |
PeptideAtlasi | Q5T8D3 |
PRIDEi | Q5T8D3 |
ProteomicsDBi | 64724 [Q5T8D3-1] 64725 [Q5T8D3-2] 64726 [Q5T8D3-3] 64727 [Q5T8D3-4] |
Protocols and materials databases
Antibodypediai | 2333, 114 antibodies |
DNASUi | 91452 |
Genome annotation databases
Ensembli | ENST00000375888; ENSP00000365049; ENSG00000107897 [Q5T8D3-1] ENST00000375901; ENSP00000365066; ENSG00000107897 [Q5T8D3-4] ENST00000375905; ENSP00000365070; ENSG00000107897 [Q5T8D3-2] ENST00000396271; ENSP00000379568; ENSG00000107897 [Q5T8D3-3] |
GeneIDi | 91452 |
KEGGi | hsa:91452 |
UCSCi | uc001ito.4, human [Q5T8D3-1] |
Organism-specific databases
CTDi | 91452 |
DisGeNETi | 91452 |
GeneCardsi | ACBD5 |
HGNCi | HGNC:23338, ACBD5 |
HPAi | ENSG00000107897, Low tissue specificity |
MalaCardsi | ACBD5 |
MIMi | 616618, gene 618863, phenotype |
neXtProti | NX_Q5T8D3 |
OpenTargetsi | ENSG00000107897 |
PharmGKBi | PA134892991 |
VEuPathDBi | HostDB:ENSG00000107897.18 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0817, Eukaryota |
GeneTreei | ENSGT00940000156350 |
HOGENOMi | CLU_034436_0_0_1 |
InParanoidi | Q5T8D3 |
OMAi | EGMPMTD |
OrthoDBi | 1546859at2759 |
PhylomeDBi | Q5T8D3 |
TreeFami | TF319446 |
Enzyme and pathway databases
PathwayCommonsi | Q5T8D3 |
Reactomei | R-HSA-390918, Peroxisomal lipid metabolism R-HSA-9603798, Class I peroxisomal membrane protein import |
Miscellaneous databases
BioGRID-ORCSi | 91452, 5 hits in 874 CRISPR screens |
ChiTaRSi | ACBD5, human |
EvolutionaryTracei | Q5T8D3 |
GenomeRNAii | 91452 |
Pharosi | Q5T8D3, Tbio |
PROi | PR:Q5T8D3 |
RNActi | Q5T8D3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000107897, Expressed in brain and 220 other tissues |
ExpressionAtlasi | Q5T8D3, baseline and differential |
Genevisiblei | Q5T8D3, HS |
Family and domain databases
CDDi | cd00435, ACBP, 1 hit |
Gene3Di | 1.20.80.10, 1 hit |
InterProi | View protein in InterPro IPR016347, ACBD5 IPR022408, Acyl-CoA-binding_prot_CS IPR000582, Acyl-CoA-binding_protein IPR035984, Acyl-CoA-binding_sf IPR014352, FERM/acyl-CoA-bd_prot_sf |
Pfami | View protein in Pfam PF00887, ACBP, 1 hit |
PIRSFi | PIRSF002412, MA_DBI, 1 hit |
PRINTSi | PR00689, ACOABINDINGP |
SUPFAMi | SSF47027, SSF47027, 1 hit |
PROSITEi | View protein in PROSITE PS00880, ACB_1, 1 hit PS51228, ACB_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ACBD5_HUMAN | |
Accessioni | Q5T8D3Primary (citable) accession number: Q5T8D3 Secondary accession number(s): B3KQ56 Q9UFB5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 15, 2007 |
Last sequence update: | December 21, 2004 | |
Last modified: | February 10, 2021 | |
This is version 139 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with genetic variants
List of human entries with genetic variants