Description: Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA. RefSeq Summary (NM_018052): This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]. Transcript (Including UTRs) Position: hg19 chr16:70,721,342-70,835,061 Size: 113,720 Total Exon Count: 19 Strand: - Coding Region Position: hg19 chr16:70,721,831-70,834,803 Size: 112,973 Coding Exon Count: 19
ID:VAC14_HUMAN DESCRIPTION: RecName: Full=Protein VAC14 homolog; AltName: Full=Tax1-binding protein 2; FUNCTION: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. SUBUNIT: Forms homooligomers. Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold. Interacts with NOS1. Interacts with HTLV-1 Tax. SUBCELLULAR LOCATION: Endosome membrane. Microsome membrane (By similarity). Note=Mainly associated with membranes of the late endocytic pathway. TISSUE SPECIFICITY: Ubiquitously expressed. DOMAIN: The C-terminal domain (residues 523-782) mediates homomeric interactions and is necessary for the formation and maintenance of the PI(3,5)P2 regulatory complex. SIMILARITY: Belongs to the VAC14 family. SIMILARITY: Contains 6 HEAT repeats. SEQUENCE CAUTION: Sequence=AAB03813.1; Type=Miscellaneous discrepancy; Note=Unknown C-terminal region; Sequence=BAB15145.1; Type=Erroneous initiation;
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 Q08AM6
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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.
BC000536 - Homo sapiens Vac14 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3162364), partial cds. AK025479 - Homo sapiens cDNA: FLJ21826 fis, clone HEP01350. BC007214 - Homo sapiens Vac14 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:2819370), partial cds. BC110852 - Homo sapiens Vac14 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:6501756). AK001167 - Homo sapiens cDNA FLJ10305 fis, clone NT2RM2000239. AK307766 - Homo sapiens cDNA, FLJ97714. AK056433 - Homo sapiens cDNA FLJ31871 fis, clone NT2RP7002243, highly similar to Homo sapiens Vac14 homolog (VAC14), mRNA. BC125108 - Homo sapiens Vac14 homolog (S. cerevisiae), mRNA (cDNA clone MGC:149815 IMAGE:40118772), complete cds. BC125109 - Homo sapiens Vac14 homolog (S. cerevisiae), mRNA (cDNA clone MGC:149816 IMAGE:40118777), complete cds. AK297564 - Homo sapiens cDNA FLJ53136 complete cds, highly similar to Homo sapiens Vac14 homolog (VAC14), mRNA. KJ902860 - Synthetic construct Homo sapiens clone ccsbBroadEn_12254 VAC14 gene, encodes complete protein. KJ894238 - Synthetic construct Homo sapiens clone ccsbBroadEn_03632 VAC14 gene, encodes complete protein. CR457343 - Homo sapiens full open reading frame cDNA clone RZPDo834A0521D for gene FLJ10305, hypothetical protein FLJ10305; complete cds, incl. stopcodon. BC110072 - Homo sapiens Vac14 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:40015379). AL137396 - Homo sapiens mRNA; cDNA DKFZp434J032 (from clone DKFZp434J032). AK090627 - Homo sapiens cDNA FLJ33308 fis, clone BNGH42004291. AX746543 - Sequence 68 from Patent EP1308459. AK128439 - Homo sapiens cDNA FLJ46582 fis, clone THYMU3043327. AK093941 - Homo sapiens cDNA FLJ36622 fis, clone TRACH2016690, highly similar to Homo sapiens Vac14 homolog (VAC14), mRNA. JD248194 - Sequence 229218 from Patent EP1572962. JD414108 - Sequence 395132 from Patent EP1572962. JD328999 - Sequence 310023 from Patent EP1572962. JD260865 - Sequence 241889 from Patent EP1572962. JD156726 - Sequence 137750 from Patent EP1572962. JD138735 - Sequence 119759 from Patent EP1572962. AK310466 - Homo sapiens cDNA, FLJ17508. U25801 - Human Tax1 binding protein mRNA, partial cds. JD305720 - Sequence 286744 from Patent EP1572962. JD369395 - Sequence 350419 from Patent EP1572962. JD355111 - Sequence 336135 from Patent EP1572962. JD158381 - Sequence 139405 from Patent EP1572962. JD408972 - Sequence 389996 from Patent EP1572962. JD486086 - Sequence 467110 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q08AM6 (Reactome details) participates in the following event(s):
R-HSA-1676174 PI(3,5)P2 is dephosphorylated to PI3P by FIG4 at the early endosome membrane R-HSA-1676168 PI3P is phosphorylated to PI(3,5)P2 by PIKFYVE at the early endosome membrane R-NUL-1675886 PI3P is phosphorylated to PI(3,5)P2 by Pikfyve at the early endosome membrane R-NUL-1675925 PI3P is phosphorylated to PI(3,5)P2 by Pikfyve at the late endosome membrane R-NUL-1676051 PI is phosphorylated to PI5P by Pikfyve at the late endosome membrane R-HSA-1675866 PI is phosphorylated to PI5P by PIKFYVE at the late endosome membrane R-HSA-1676020 PI(3,5)P2 is dephosphorylated to PI3P by FIG4 at the late endosome membrane R-HSA-1675910 PI3P is phosphorylated to PI(3,5)P2 by PIKFYVE at the late endosome membrane R-NUL-1675982 PI3P is phosphorylated to PI(3,5)P2 by Pikfyve at the Golgi membrane R-HSA-1676005 PI(3,5)P2 is dephosphorylated to PI3P by FIG4 at the Golgi membrane R-HSA-1675921 PI3P is phosphorylated to PI(3,5)P2 by PIKFYVE at the Golgi membrane R-HSA-1660516 Synthesis of PIPs at the early endosome membrane R-HSA-1660517 Synthesis of PIPs at the late endosome membrane R-HSA-1660514 Synthesis of PIPs at the Golgi membrane R-HSA-1483255 PI Metabolism R-HSA-1483257 Phospholipid metabolism R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism