• Gene id: 5826

Gene Summary

• Gene Symbol: ABCD4   Gene   UCSC   Ensembl
• Aliases: ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L
• Gene name: ATP binding cassette subfamily D member 4
• Alternate names: ATP-binding cassette sub-family D member 4, 69 kDa peroxisomal ABC-transporter, ATP-binding cassette, sub-family D (ALD), member 4, PMP70-related protein, PXMP1-L, peroxisomal membrane protein 69,
• Gene location: 14q24.3 (74303061: 74285268)     Exons: 20     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 601295

Protein Summary

• Protein general information: O14678  
  • Name: ATP binding cassette sub family D member 4 (PMP70 related protein) (P70R) (Peroxisomal membrane protein 1 like) (PXMP1 L) (Peroxisomal membrane protein 69) (PMP69)
  • Length: 606  
  • Mass: 68597
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQVGLIPSQYYGVLGNKD
  LEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDIDNPDQRISQDV
  ERFCRQLSSMASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFK
  HMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGD
  LSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPP
  GWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVLGGLWTSTRGSVQMLTD
  FGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLS
  PGEMQRLSFARLFYLQPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWEL
  MRIKVE

• Structural information:
  • Protein Domains: (39..33-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (389..60-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR027417  
  • Prosite: PS50929 PS00211 PS50893
  • PDB: 6JBJ
  • PDBsum: 6JBJ
  • STRING: ENSP00000349396
• Other Databases: GeneCards:  ABCD4  Malacards:  ABCD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	NOT|cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	NOT|cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009235	cobalamin metabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0055085	transmembrane transport	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005524	ATP binding	NAS	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	NAS	molecular function
GO:0043190	ATP-binding cassette (ABC) transporter complex	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome
hsa02010	ABC transporters

Diseases

Associated diseases	References
Methylmalonic aciduria and homocystinuria	KEGG:H02221
Methylmalonic aciduria and homocystinuria	KEGG:H02221
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R