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Abcd4
Gene Detail
 Symbol
Name
ID
Abcd4
ATP-binding cassette, sub-family D (ALD), member 4
MGI:1349217
Synonyms P69r, Pxmp1l
Feature Type protein coding gene
Genetic Map
Chromosome 12
39.30 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr12:84602531-84617466 bp, - strand
From NCBI annotation of GRCm38

  14936 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3703  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Abcd4

Human
homologs
Human Homolog ABCD4, ATP-binding cassette, sub-family D (ALD), member 4
NCBI Gene ID 5826
neXtProt AC  NX_O14678
Human Synonyms  ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L
Human Chr (Location)  14q24.3; chr14:74285277-74303064 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ABCD4
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(4) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Abcd4 interacts with 59 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cobalamin metabolic process, transmembrane transport, ...
Component endoplasmic reticulum membrane, integral component of membrane, ...
Function ATPase activity, ATPase activity, coupled to transmembrane movement of substances, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (137)    Tissues (109)    Images (19)
Theiler Stages: 20, 22, 23, 26, 27, 28
Assay TypeResults
RNA in situ 113
Northern blot 24
cDNA source data(36)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(40) cDNA(40)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000021240 (Evidence)
Entrez Gene19300 (Evidence)
UniGene229109
DFCITC1584245, TC1587850
DoTSDT.60103270, DT.91311646, DT.99849132
NIA Mouse Gene IndexU034172
Consensus CDS ProjectCCDS26047.1
International Mouse Knockout Project StatusAbcd4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 19300 NCBI Gene Model | MGI Sequence Detail 14936 C57BL/6J ±  kb
transcript NM_008992 RefSeq | MGI Sequence Detail 2527 C57BL/6 
polypeptide O89016 UniProt | EBI | MGI Sequence Detail 606 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(15) UniProt(3)
Polymorphisms SNPs within 2kb(87 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR010509 ABC transporter, N-terminal
InterPro IPR011527 ABC transporter, transmembrane domain, type 1
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000031253 ATP-binding cassette sub-family D member 4
Graphical View of Protein Domain Structure
References (Earliest) J:49554 Holzinger A, et al., The mouse gene encoding the peroxisomal membrane protein 1-like protein (PXMP1-L): cDNA cloning, genomic organization and comparative expression studies. FEBS Lett. 1998 Aug 14;433(1-2):179-83
(Latest) J:196080 Elsen GE, et al., The protomap is propagated to cortical plate neurons through an Eomes-dependent intermediate map. Proc Natl Acad Sci U S A. 2013 Mar 5;110(10):4081-6
All references(35)
Other
accession IDs
MGI:1298215

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory