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Tbio
ABCD4
ATP-binding cassette sub-family D member 4

Protein Classes
Protein Summary
Description
May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm. 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, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may als ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000356924
  • ENSP00000349396
  • ENSG00000119688

Symbol
  • PXMP1L
  • P70R
  • P79R
  • ABC41
  • MAHCJ
  • PMP69
  • PXMP1L
  • EST352188
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.98
transcription factor binding site profile
0.82
cellular component
0.79
protein domain
0.73
transcription factor
0.67


Related Tools
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 23.2   (req: < 5)
Gene RIFs: 9   (req: <= 3)
Antibodies: 223   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 23.2   (req: >= 5)
Gene RIFs: 9   (req: > 3)
Antibodies: 223   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
ATP binding cassette subfamily D member 4
VGNC:3512
453032
Macaque
ATP binding cassette subfamily D member 4
699380
Mouse
MGI:1349217
19300
Rat
RGD:1307273
299196
Dog
ATP binding cassette subfamily D member 4
VGNC:37448
490781
Species
Name
OMA
EggNOG
Inparanoid
Chimp
ATP binding cassette subfamily D member 4
Macaque
ATP binding cassette subfamily D member 4
Mouse
Rat
Dog
ATP binding cassette subfamily D member 4
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-O14678-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (13)
ABC transporter disorders (R-HSA-5619084)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 11
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
ABC transporter disorders
Reactome
Cobalamin (Cbl, vitamin B12) transport and metabolism
Reactome
Defective ABCD4 causes methylmalonic aciduria and homocystinuria, cblj type (MAHCJ)
Reactome
Defects in cobalamin (B12) metabolism
Reactome
Defects in vitamin and cofactor metabolism
Name
Explore in Pharos
Explore in Source
ABC transporter disorders
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective ABCD4 causes methylmalonic aciduria and homocystinuria, cblj type (MAHCJ)
Defects in cobalamin (B12) metabolism
Defects in vitamin and cofactor metabolism
Protein-Protein Interactions (114)
1 – 10 of 114
FAM189B
Tbio
Novelty: 0.21064304
p_int: 0.999935215
p_ni: 0.00006478
p_wrong: 5e-9
Data Source: BioPlex
SLC17A2
Tdark
Family: Transporter
Novelty: 0.23941275
p_int: 0.999647731
p_ni: 0.000352268
p_wrong: 1e-9
Score: 0.187
Data Source: BioPlex,STRINGDB
RXFP1
Tchem
Family: GPCR
Novelty: 0.00580827
p_int: 0.998861411
p_ni: 0.001138557
p_wrong: 3.2e-8
Data Source: BioPlex
PCDHA3
Tdark
Novelty: 0.8622898
p_int: 0.995892994
p_ni: 0.004107
p_wrong: 6e-9
Data Source: BioPlex
NKAIN1
Tdark
Family: Enzyme
Novelty: 0.52190272
p_int: 0.994857738
p_ni: 0.005134741
p_wrong: 0.000007522
Data Source: BioPlex
PTCHD3
Tbio
Novelty: 0.00081643
p_int: 0.990466385
p_ni: 0.009533511
p_wrong: 1.03e-7
Data Source: BioPlex
PUS1
Tbio
Family: Enzyme
Novelty: 0.01923618
p_int: 0.984268329
p_ni: 0.015731671
Data Source: BioPlex
TNFRSF10A
Tchem
Novelty: 0.0003383
p_int: 0.977788893
p_ni: 0.022197864
p_wrong: 0.000013243
Data Source: BioPlex
FSHR
Tclin
Family: GPCR
Novelty: 0.00123929
p_int: 0.973895592
p_ni: 0.026083556
p_wrong: 0.000020852
Score: 0.552
Data Source: BioPlex,STRINGDB
PDGFRB
Tclin
Family: Kinase
Novelty: 0.00074896
p_int: 0.968026955
p_ni: 0.031973018
p_wrong: 2.7e-8
Score: 0.183
Data Source: BioPlex,STRINGDB
Publication Statistics
PubMed Score  23.20

PubMed score by year
PubTator Score  16.05

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer