Description: Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 2, mRNA. RefSeq Summary (NM_172232): The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr17:67,240,576-67,323,323 Size: 82,748 Total Exon Count: 39 Strand: - Coding Region Position: hg19 chr17:67,243,678-67,310,556 Size: 66,879 Coding Exon Count: 38
ID:ABCA5_HUMAN DESCRIPTION: RecName: Full=ATP-binding cassette sub-family A member 5; FUNCTION: May play a role in the processing of autolysosomes (By similarity). SUBCELLULAR LOCATION: Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein (By similarity). TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta. DEVELOPMENTAL STAGE: Expressed in fetal liver, kidney and brain. PTM: N-glycosylated (By similarity). SIMILARITY: Belongs to the ABC transporter superfamily. ABCA family. SIMILARITY: Contains 2 ABC transporter domains. SEQUENCE CAUTION: Sequence=BAB71700.1; Type=Erroneous initiation; WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8WWZ7";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WWZ7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
LP896083 - Sequence 947 from Patent EP3253886. AY247065 - Homo sapiens ATP-binding cassette sub-family A member 10 (ABCA10) mRNA, complete cds. AY028900 - Homo sapiens ATP-binding cassette A10 mRNA, complete cds. BX647447 - Homo sapiens mRNA; cDNA DKFZp451F117 (from clone DKFZp451F117). BC146819 - Homo sapiens cDNA clone IMAGE:8860425. AB067475 - Homo sapiens mRNA for KIAA1888 protein, partial cds. AY028897 - Homo sapiens ATP-binding cassette A5 mRNA, complete cds. JD304268 - Sequence 285292 from Patent EP1572962. AK094416 - Homo sapiens cDNA FLJ37097 fis, clone BRACE2018847, moderately similar to ATP-binding cassette, sub-family A member 8. AK056533 - Homo sapiens cDNA FLJ31971 fis, clone NT2RP7008137, weakly similar to ATP-BINDING CASSETTE, SUB-FAMILY A, MEMBER 1. JD349584 - Sequence 330608 from Patent EP1572962. U66672 - Homo sapiens clone EST90625 mRNA sequence. BX640746 - Homo sapiens mRNA; cDNA DKFZp686K07118 (from clone DKFZp686K07118). AK058170 - Homo sapiens cDNA FLJ25441 fis, clone TST08455. AJ275973 - Homo sapiens mRNA for ATP-binding cassette protein of the (ABCA subfamily). JD424958 - Sequence 405982 from Patent EP1572962. BC156256 - Synthetic construct Homo sapiens clone IMAGE:100061705, MGC:190078 ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5) mRNA, encodes complete protein. AK122803 - Homo sapiens cDNA FLJ16381 fis, clone TLIVE2006359, weakly similar to Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8). AJ512612 - Homo sapiens mRNA for ABCA5 transporter (ABCA5 gene), V20+16 variant. AK292592 - Homo sapiens cDNA FLJ77193 partial cds, highly similar to Homo sapiens mRNA for ATP-binding cassette protein of the (ABCA subfamily). HV555708 - JP 2012000107-A/89: Diagnosis of tumor using novel small RNA as biomarker. BC054480 - Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5, mRNA (cDNA clone IMAGE:6620671). BC070126 - Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5, mRNA (cDNA clone IMAGE:4724012). BX648540 - Homo sapiens mRNA; cDNA DKFZp779N2435 (from clone DKFZp779N2435). BC029426 - Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5, mRNA (cDNA clone IMAGE:4723522), partial cds. AK096664 - Homo sapiens cDNA FLJ39345 fis, clone PANCR1000091, weakly similar to ATP-binding cassette, sub-family A member 8. JD192457 - Sequence 173481 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa02010 - ABC transporters
Reactome (by CSHL, EBI, and GO)
Protein Q8WWZ7 (Reactome details) participates in the following event(s):
R-HSA-8848053 ABCA5 transports CHOL from lysosomal lumen to cytosol R-HSA-1369062 ABC transporters in lipid homeostasis R-HSA-382556 ABC-family proteins mediated transport R-HSA-382551 Transport of small molecules