Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5826
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily D member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCD4
Synonyms (NCBI Gene) Gene synonyms aliases	ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MAHCJ
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

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SNP ID	Visualize variation	Clinical significance	Consequence
rs45568335	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs141868117	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs201777056	T>C,G	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs387907315	->GA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, 3 prime UTR variant
rs767795583	G>A	Pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, synonymous variant, coding sequence variant
rs769364566	C>A,T	Pathogenic	Splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030267	hsa-miR-26b-5p	Microarray	19088304
MIRT042098	hsa-miR-484	CLASH	23622248
MIRT758815	hsa-miR-3065-3p	CLIP-seq
MIRT758816	hsa-miR-3180-5p	CLIP-seq
MIRT758817	hsa-miR-342-3p	CLIP-seq
MIRT758818	hsa-miR-3674	CLIP-seq
MIRT758819	hsa-miR-409-3p	CLIP-seq
MIRT758820	hsa-miR-4476	CLIP-seq
MIRT758821	hsa-miR-4753-3p	CLIP-seq
MIRT758822	hsa-miR-4766-3p	CLIP-seq
MIRT758823	hsa-miR-4766-5p	CLIP-seq
MIRT758824	hsa-miR-4768-5p	CLIP-seq
MIRT758825	hsa-miR-493	CLIP-seq
MIRT758826	hsa-miR-498	CLIP-seq
MIRT758827	hsa-miR-520a-5p	CLIP-seq
MIRT758828	hsa-miR-525-5p	CLIP-seq
MIRT758829	hsa-miR-548ag	CLIP-seq
MIRT758830	hsa-miR-548ai	CLIP-seq
MIRT758831	hsa-miR-548p	CLIP-seq
MIRT758832	hsa-miR-579	CLIP-seq
MIRT1923725	hsa-miR-299-3p	CLIP-seq
MIRT758818	hsa-miR-3674	CLIP-seq
MIRT1923726	hsa-miR-576-3p	CLIP-seq
MIRT1923727	hsa-miR-760	CLIP-seq
MIRT2165255	hsa-miR-4302	CLIP-seq
MIRT1923727	hsa-miR-760	CLIP-seq
MIRT2165256	hsa-miR-922	CLIP-seq
MIRT2467240	hsa-miR-1343	CLIP-seq
MIRT2467241	hsa-miR-141	CLIP-seq
MIRT2467242	hsa-miR-149	CLIP-seq
MIRT2467243	hsa-miR-1827	CLIP-seq
MIRT2467244	hsa-miR-200a	CLIP-seq
MIRT2467245	hsa-miR-2467-5p	CLIP-seq
MIRT2467246	hsa-miR-3064-5p	CLIP-seq
MIRT758815	hsa-miR-3065-3p	CLIP-seq
MIRT758816	hsa-miR-3180-5p	CLIP-seq
MIRT2467247	hsa-miR-3192	CLIP-seq
MIRT2467248	hsa-miR-3612	CLIP-seq
MIRT758818	hsa-miR-3674	CLIP-seq
MIRT2467249	hsa-miR-4276	CLIP-seq
MIRT2165255	hsa-miR-4302	CLIP-seq
MIRT2467250	hsa-miR-4443	CLIP-seq
MIRT2467251	hsa-miR-4499	CLIP-seq
MIRT2467252	hsa-miR-4649-3p	CLIP-seq
MIRT2467253	hsa-miR-4724-5p	CLIP-seq
MIRT758821	hsa-miR-4753-3p	CLIP-seq
MIRT758822	hsa-miR-4766-3p	CLIP-seq
MIRT758823	hsa-miR-4766-5p	CLIP-seq
MIRT758824	hsa-miR-4768-5p	CLIP-seq
MIRT2467254	hsa-miR-4794	CLIP-seq
MIRT2467255	hsa-miR-4802-5p	CLIP-seq
MIRT758826	hsa-miR-498	CLIP-seq
MIRT758827	hsa-miR-520a-5p	CLIP-seq
MIRT758828	hsa-miR-525-5p	CLIP-seq
MIRT758831	hsa-miR-548p	CLIP-seq
MIRT758832	hsa-miR-579	CLIP-seq
MIRT2467256	hsa-miR-650	CLIP-seq
MIRT1923727	hsa-miR-760	CLIP-seq
MIRT2165256	hsa-miR-922	CLIP-seq
MIRT2467240	hsa-miR-1343	CLIP-seq
MIRT2467241	hsa-miR-141	CLIP-seq
MIRT2467242	hsa-miR-149	CLIP-seq
MIRT2467243	hsa-miR-1827	CLIP-seq
MIRT2467244	hsa-miR-200a	CLIP-seq
MIRT2467245	hsa-miR-2467-5p	CLIP-seq
MIRT2467246	hsa-miR-3064-5p	CLIP-seq
MIRT758815	hsa-miR-3065-3p	CLIP-seq
MIRT758816	hsa-miR-3180-5p	CLIP-seq
MIRT2467247	hsa-miR-3192	CLIP-seq
MIRT2467248	hsa-miR-3612	CLIP-seq
MIRT758818	hsa-miR-3674	CLIP-seq
MIRT2467250	hsa-miR-4443	CLIP-seq
MIRT2467251	hsa-miR-4499	CLIP-seq
MIRT2467252	hsa-miR-4649-3p	CLIP-seq
MIRT2467253	hsa-miR-4724-5p	CLIP-seq
MIRT758821	hsa-miR-4753-3p	CLIP-seq
MIRT758822	hsa-miR-4766-3p	CLIP-seq
MIRT758823	hsa-miR-4766-5p	CLIP-seq
MIRT758824	hsa-miR-4768-5p	CLIP-seq
MIRT2467254	hsa-miR-4794	CLIP-seq
MIRT2467255	hsa-miR-4802-5p	CLIP-seq
MIRT758826	hsa-miR-498	CLIP-seq
MIRT758827	hsa-miR-520a-5p	CLIP-seq
MIRT758828	hsa-miR-525-5p	CLIP-seq
MIRT758831	hsa-miR-548p	CLIP-seq
MIRT758832	hsa-miR-579	CLIP-seq
MIRT2467256	hsa-miR-650	CLIP-seq
MIRT1923727	hsa-miR-760	CLIP-seq
MIRT2165256	hsa-miR-922	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005324	Function	Long-chain fatty acid transporter activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25535791
GO:0005524	Function	ATP binding	IBA	21873635
GO:0005524	Function	ATP binding	NAS	9266848
GO:0005765	Component	Lysosomal membrane	IDA	27456980
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005777	Component	Peroxisome	IDA	9302272, 14533738
GO:0005777	Component	Peroxisome	IDA	19010322, 27456980
GO:0005778	Component	Peroxisomal membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	27456980
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0007031	Process	Peroxisome organization	IBA	21873635
GO:0009235	Process	Cobalamin metabolic process	IMP	22922874
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IBA	21873635
GO:0016021	Component	Integral component of membrane	NAS	9266848
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	NAS	9266848
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS
GO:0042760	Process	Very long-chain fatty acid catabolic process	IBA	21873635
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	NAS	9266848
GO:0055085	Process	Transmembrane transport	NAS	9266848
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
603214	68	ENSG00000119688

Protein

UniProt ID

O14678

Protein name

Lysosomal cobalamin transporter ABCD4 (EC 7.6.2.8) (ATP-binding cassette sub-family D member 4) (PMP70-related protein) (P70R) (Peroxisomal membrane protein 1-like) (PXMP1-L) (Peroxisomal membrane protein 69) (PMP69)

Protein 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 fr

PDB

6JBJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06472	ABC_membrane_2	27 → 294	ABC transporter transmembrane region 2	Family
PF00005	ABC_tran	404 → 552	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQV
GLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLH
RLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQ
STGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYR
AGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGD
LSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQD
CEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLIT
GNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKE
VYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYL
QPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWEL
MRIKVE

Sequence length

606

Interactions

View interactions

ABCD4 (ATP binding cassette subfamily D member 4)