ABCD4
entrez
5826
canonical
uniprot
O14678
canonical
ensembl
ENSG00000119688
resolver
ensp
ENSP00000349396
resolver
ensp
ENSP00000555510
resolver
ensp
ENSP00000555515
resolver
ensp
ENSP00000555517
resolver
ensp
ENSP00000604388
resolver
ensp
ENSP00000655653
resolver
ensp
ENSP00000782746
resolver
enst
ENST00000356924
resolver
genesymbol
ABCD4
resolver
genesymbol_syn
PXMP1L
resolver
hgnc
HGNC:68
resolver
uniprot
A8K5L7
resolver
uniprot
Q6IAQ0
resolver
uniprot
Q96E75
resolver
uniprot_entry
ABCD4_HUMAN
resolver
uniprot_sec
A8K5L7
resolver
uniprot_sec
Q6IAQ0
resolver
uniprot_sec
Q96E75
resolver
amino_acid_sequence
MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQVGLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWELMRIKVE
uniprot
proteins
disease_involvement
DISEASE: Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. {ECO:0000269|PubMed:22922874, ECO:0000269|PubMed:23141461, ECO:0000269|PubMed:28572511, ECO:0000269|PubMed:31467407, ECO:0000269|PubMed:33845046}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.6.2.8
uniprot
proteins
function
FUNCTION: Lysosomal membrane protein that transports cobalamin (Vitamin B12) from the lysosomal lumen to the cytosol in an ATP-dependent manner (PubMed:22922874, PubMed:28572511, PubMed:31467407, PubMed:33845046). Targeted by LMBRD1 lysosomal chaperone from the endoplasmic reticulum to the lysosomal membrane (PubMed:27456980). Then forms a complex with lysosomal chaperone LMBRD1 and cytosolic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791). {ECO:0000269|PubMed:22922874, ECO:0000269|PubMed:27456980, ECO:0000269|PubMed:28572511, ECO:0000269|PubMed:31467407, ECO:0000269|PubMed:33845046, ECO:0000303|PubMed:25535791}.
uniprot
proteins
mass_dalton
68597
uniprot
proteins
mutagenesis
MUTAGEN 141; /note="N->A,D: Does not affect ATPase nor cobalamin transport activities."; /evidence="ECO:0000269|PubMed:33845046"; MUTAGEN 319; /note="Y->A: Decreases of ATPase activity. Decreases cobalamin transport activity."; /evidence="ECO:0000269|PubMed:33845046"; MUTAGEN 319; /note="Y->F: Does not affect ATPase activity. Does not affect cobalamin transport activity."; /evidence="ECO:0000269|PubMed:33845046"; MUTAGEN 426; /note="G->A: Decreases interaction with LMBD1. Decreases colocalization with LMBD1. Decreases cobalamin transport activity."; /evidence="ECO:0000269|PubMed:28572511"; MUTAGEN 427; /note="K->A: Loss of ATPase activity. Loss of cobalamin transport activity."; /evidence="ECO:0000269|PubMed:33845046"; MUTAGEN 427; /note="K->L: Decreases interaction with LMBD1. Decreases colocalization with LMBD1. Decreases cobalamin transport activity. Reduces synthesis of adenosylcobalamin and methylcobalamin."; /evidence="ECO:0000269|PubMed:22922874, ECO:0000269|PubMed:28572511"; MUTAGEN 548; /note="D->N: Decreases interaction with LMBD1. Reduces synthesis of adenosylcobalamin and methylcobalamin."; /evidence="ECO:0000269|PubMed:22922874, ECO:0000269|PubMed:28572511"; MUTAGEN 549; /note="E->Q: Decreases ATPase activity. Reduces synthesis of adenosylcobalamin and methylcobalamin."; /evidence="ECO:0000269|PubMed:22922874, ECO:0000269|PubMed:31467407
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCD family
uniprot
proteins
protein_family
Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily
uniprot
proteins
pubmed
12111378
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22922874
uniprot
proteins
pubmed
23141461
uniprot
proteins
pubmed
25535791
uniprot
proteins
pubmed
27456980
uniprot
proteins
pubmed
28572511
uniprot
proteins
pubmed
31467407
uniprot
proteins
pubmed
33845046
uniprot
proteins
pubmed
9266848
uniprot
proteins
pubmed
9302272
uniprot
proteins
pubmed
9599016
uniprot
proteins
sequence_length
606
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:27456980}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:22922874, ECO:0000269|PubMed:25535791, ECO:0000269|PubMed:27456980, ECO:0000269|PubMed:28572511, ECO:0000269|PubMed:33845046}; Multi-pass membrane protein {ECO:0000255}. Note=Targeted by LMBRD1 lysosomal chaperone to the lysosomal membrane. {ECO:0000269|PubMed:27456980, ECO:0000269|PubMed:28572511}.
uniprot
proteins
transmembrane_region
TRANSMEM 43..63; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 76..96; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 190..210; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 279..299; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 314..334; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441
uniprot
proteins