Protein-coding gene in the species Homo sapiens
ABCD4 |
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Identifiers |
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Aliases | ABCD4, ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L, ATP binding cassette subfamily D member 4 |
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External IDs | OMIM: 603214; MGI: 1349217; HomoloGene: 3703; GeneCards: ABCD4; OMA:ABCD4 - orthologs |
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Gene location (Mouse) |
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![Chromosome 12 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/c/ca/Ideogram_house_mouse_chromosome_12.svg/260px-Ideogram_house_mouse_chromosome_12.svg.png) | Chr. | Chromosome 12 (mouse)[1] |
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| Band | 12 D1|12 39.3 cM | Start | 84,648,238 bp[1] |
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End | 84,664,187 bp[1] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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| Top expressed in | - yolk sac
- right kidney
- epiblast
- Rostral migratory stream
- granulocyte
- lip
- embryo
- Paneth cell
- embryo
- crypt of lieberkuhn of small intestine
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BioGPS | ![](//upload.wikimedia.org/wikipedia/commons/thumb/1/1f/PBB_GE_ABCD4_203982_s_at_fs.png/250px-PBB_GE_ABCD4_203982_s_at_fs.png)
![](//upload.wikimedia.org/wikipedia/commons/thumb/6/66/PBB_GE_ABCD4_203981_s_at_fs.png/250px-PBB_GE_ABCD4_203981_s_at_fs.png) | More reference expression data |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_005050 NM_020324 NM_020325 NM_020326 |
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RefSeq (protein) | NP_005041 NP_001340520 NP_001340521 NP_001340522 NP_001340523
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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 |
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Location (UCSC) | n/a | Chr 12: 84.65 – 84.66 Mb |
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PubMed search | [2] | [3] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021240 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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.
- ^ 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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see also ABC transporter disorders |
![Stub icon](//upload.wikimedia.org/wikipedia/commons/thumb/0/08/Beta-2_adrenergic_receptor.png/30px-Beta-2_adrenergic_receptor.png) | This membrane protein–related article is a stub. You can help Wikipedia by expanding it. |