ABCD4

Protein-coding gene in the species Homo sapiens
ABCD4
Identifiers
AliasesABCD4, ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L, ATP binding cassette subfamily D member 4
External IDsOMIM: 603214; MGI: 1349217; HomoloGene: 3703; GeneCards: ABCD4; OMA:ABCD4 - orthologs
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[1]
Chromosome 12 (mouse)
Genomic location for ABCD4
Genomic location for ABCD4
Band12 D1|12 39.3 cMStart84,648,238 bp[1]
End84,664,187 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
    n/a
Top expressed in
  • yolk sac

  • right kidney

  • epiblast

  • Rostral migratory stream

  • granulocyte

  • lip

  • embryo

  • Paneth cell

  • embryo

  • crypt of lieberkuhn of small intestine
BioGPS


More reference expression data
Gene ontology
Molecular function
  • ATPase activity
  • nucleotide binding
  • ATP binding
  • ATPase-coupled transmembrane transporter activity
Cellular component
  • membrane
  • endoplasmic reticulum membrane
  • lysosomal membrane
  • ATP-binding cassette (ABC) transporter complex
  • peroxisomal membrane
  • integral component of membrane
  • peroxisome
Biological process
  • cobalamin metabolic process
  • transmembrane transport
  • cellular response to leukemia inhibitory factor
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5826

19300

Ensembl

ENSG00000119688

ENSMUSG00000021240

UniProt

O14678

O89016

RefSeq (mRNA)

NM_005050
NM_020324
NM_020325
NM_020326

NM_008992

RefSeq (protein)
NP_005041
NP_001340520
NP_001340521
NP_001340522
NP_001340523

NP_001340524
NP_001340525
NP_001340526
NP_001340527
NP_001340528
NP_001340529
NP_001340530
NP_001340531
NP_001340532
NP_001340533
NP_001340534
NP_001340535
NP_001340536
NP_001340537
NP_001340538
NP_001340539
NP_064720
NP_064730

NP_033018

Location (UCSC)n/aChr 12: 84.65 – 84.66 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.[4][5][6]

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 also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding.[6]

References

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021240 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Holzinger A, Kammerer S, Roscher AA (Sep 1997). "Primary structure of human PMP69, a putative peroxisomal ABC-transporter". Biochem Biophys Res Commun. 237 (1): 152–7. doi:10.1006/bbrc.1997.7102. PMID 9266848.
  5. ^ Shani N, Jimenez-Sanchez G, Steel G, Dean M, Valle D (Jan 1998). "Identification of a fourth half ABC transporter in the human peroxisomal membrane". Hum Mol Genet. 6 (11): 1925–31. doi:10.1093/hmg/6.11.1925. PMID 9302272.
  6. ^ a b "Entrez Gene: ABCD4 ATP-binding cassette, sub-family D (ALD), member 4".

Further reading

  • Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D (1998). "Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1)". Genomics. 48 (2): 203–8. doi:10.1006/geno.1997.5177. PMID 9521874.
  • Holzinger A, Roscher AA, Landgraf P, et al. (1998). "Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter". FEBS Lett. 426 (2): 238–42. doi:10.1016/S0014-5793(98)00354-8. PMID 9599016.
  • Iida A, Saito S, Sekine A, et al. (2002). "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8". J. Hum. Genet. 47 (6): 285–310. doi:10.1007/s100380200041. PMID 12111378.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Asheuer M, Bieche I, Laurendeau I, et al. (2005). "Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy". Hum. Mol. Genet. 14 (10): 1293–303. doi:10.1093/hmg/ddi140. PMID 15800013.
  • Kuiper H, Spötter A, Williams JL, et al. (2005). "Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34". Cytogenet. Genome Res. 109 (4): 533. doi:10.1159/000084217. PMID 15909363.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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