ACBD5
entrez
91452
canonical
uniprot
Q5T8D3
canonical
ensembl
ENSG00000107897
resolver
ensp
ENSP00000365049
resolver
ensp
ENSP00000365062
resolver
ensp
ENSP00000365066
resolver
ensp
ENSP00000365070
resolver
ensp
ENSP00000379568
resolver
ensp
ENSP00000502986
resolver
ensp
ENSP00000503158
resolver
ensp
ENSP00000503208
resolver
ensp
ENSP00000503264
resolver
ensp
ENSP00000503467
resolver
ensp
ENSP00000503800
resolver
ensp
ENSP00000504029
resolver
ensp
ENSP00000504333
resolver
ensp
ENSP00000504367
resolver
ensp
ENSP00000504374
resolver
ensp
ENSP00000504580
resolver
ensp
ENSP00000504726
resolver
ensp
ENSP00000647127
resolver
enst
ENST00000375897
resolver
enst
ENST00000676732
resolver
enst
ENST00000676997
resolver
enst
ENST00000677248
resolver
enst
ENST00000677509
resolver
enst
ENST00000677667
resolver
enst
ENST00000677960
resolver
enst
ENST00000678446
resolver
enst
ENST00000679220
resolver
genesymbol
ACBD5
resolver
genesymbol_syn
KIAA1996
resolver
hgnc
HGNC:23338
resolver
uniprot
A0A7I2V2M2
resolver
uniprot
A0A7I2V347
resolver
uniprot
A0A7I2V556
resolver
uniprot
A0A7I2V690
resolver
uniprot
A0A7I2YQE9
resolver
uniprot
B3KQ56
resolver
uniprot
B7Z2A7
resolver
uniprot
B7Z2R7
resolver
uniprot
B7Z9D0
resolver
uniprot
D3DRW0
resolver
uniprot
F8WA70
resolver
uniprot
Q5T8D4
resolver
uniprot
Q5T8E1
resolver
uniprot
Q5T8E2
resolver
uniprot
Q86UV1
resolver
uniprot
Q8N6E3
resolver
uniprot
Q9UFB5
resolver
uniprot_entry
A0A7I2V2M2_HUMAN
resolver
uniprot_entry
A0A7I2V347_HUMAN
resolver
uniprot_entry
A0A7I2V556_HUMAN
resolver
uniprot_entry
A0A7I2V690_HUMAN
resolver
uniprot_entry
A0A7I2YQE9_HUMAN
resolver
uniprot_entry
ACBD5_HUMAN
resolver
uniprot_entry
B7Z2A7_HUMAN
resolver
uniprot_entry
B7Z2R7_HUMAN
resolver
uniprot_entry
B7Z9D0_HUMAN
resolver
uniprot_entry
F8WA70_HUMAN
resolver
uniprot_sec
B3KQ56
resolver
uniprot_sec
D3DRW0
resolver
uniprot_sec
Q5T8D4
resolver
uniprot_sec
Q5T8E1
resolver
uniprot_sec
Q5T8E2
resolver
uniprot_sec
Q86UV1
resolver
uniprot_sec
Q8N6E3
resolver
uniprot_sec
Q9UFB5
resolver
amino_acid_sequence
MFQFHAGSWESWCCCCLIPADRPWDRGQHWQLEMADTRSVHETRFEAAVKVIQSLPKNGSFQPTNEMMLKFYSFYKQATEGPCKLSRPGFWDPIGRYKWDAWSSLGDMTKEEAMIAYVEEMKKIIETMPMTEKVEELLRVIGPFYEIVEDKKSGRSSDITSVRLEKISKCLEDLGNVLTSTPNAKTVNGKAESSDSGAESEEEEAQEEVKGAEQSDNDKKMMKKSADHKNLEVIVTNGYDKDGFVQDIQNDIHASSSLNGRSTEEVKPIDENLGQTGKSAVCIHQDINDDHVEDVTGIQHLTSDSDSEVYCDSMEQFGQEESLDSFTSNNGPFQYYLGGHSSQPMENSGFREDIQVPPGNGNIGNMQVVAVEGKGEVKHGGEDGRNNSGAPHREKRGGETDEFSNVRRGRGHRMQHLSEGTKGRQVGSGGDGERWGSDRGSRGSLNEQIALVLMRLQEDMQNVLQRLQKLETLTALQAKSSTSTLQTAPQPTSQRPSWWPFEMSPGVLTFAIIWPFIAQWLVYLYYQRRRRKLN
uniprot
proteins
disease_involvement
DISEASE: Retinal dystrophy with leukodystrophy (RDLKD) [MIM:618863]: An 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. {ECO:0000269|PubMed:23105016, ECO:0000269|PubMed:27799409}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:24535825}.
uniprot
proteins
mass_dalton
60092
uniprot
proteins
protein_family
ATG37 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23105016
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24535825
uniprot
proteins
pubmed
27799409
uniprot
proteins
sequence_length
534
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 506..526; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins