| URN | urn:agi-llid:6901 |
|---|---|
| Total Entities | 0 |
| Connectivity | 109 |
| Name | Taz |
| Description | tafazzin |
| Notes | This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008] |
| GO Molecular Function | 1-acylglycerophosphocholine O-acyltransferase activity |
|---|
| GO Cellular Component | integral component of membrane |
|---|---|
| mitochondrial inner membrane | |
| plasma membrane | |
| mitochondrion |
| GO Biological Process | hemopoiesis |
|---|---|
| small molecule metabolic process | |
| glycerophospholipid biosynthetic process | |
| cardiolipin biosynthetic process | |
| mitochondrial ATP synthesis coupled electron transport | |
| phospholipid metabolic process | |
| phosphatidylglycerol metabolic process | |
| cardiolipin acyl-chain remodeling | |
| muscle contraction | |
| cardiac muscle contraction | |
| heart development | |
| cardiac muscle tissue development | |
| skeletal muscle tissue development | |
| cristae formation | |
| mitochondrial respiratory chain complex I assembly |
| Pathway | cardiolipin biosynthetic pathway |
|---|---|
| cardiolipin metabolic pathway |
| Group | hemopoiesis |
|---|---|
| small molecule metabolic process | |
| glycerophospholipid biosynthetic process | |
| cardiolipin biosynthetic process | |
| mitochondrial ATP synthesis coupled electron transport | |
| phospholipid metabolic process | |
| phosphatidylglycerol metabolic process | |
| cardiolipin acyl-chain remodeling | |
| muscle contraction | |
| cardiac muscle contraction | |
| heart development | |
| cardiac muscle tissue development | |
| skeletal muscle tissue development | |
| cristae formation | |
| 1-acylglycerophosphocholine O-acyltransferase activity | |
| mitochondrial respiratory chain complex I assembly | |
| integral component of membrane | |
| mitochondrial inner membrane | |
| plasma membrane | |
| mitochondrion |
| LocusLink ID | 6901 |
|---|---|
| 66826 | |
| 363521 |
| Cell Localization | Membrane |
|---|---|
| Cytoplasm |
| GO ID | 0047184 |
|---|---|
| 0060048 | |
| 0048738 | |
| 0035965 | |
| 0032049 | |
| 0042407 | |
| 0046474 | |
| 0007507 | |
| 0030097 | |
| 0042775 | |
| 0032981 | |
| 0006936 | |
| 0006644 | |
| 0007519 | |
| 0044281 | |
| 0016021 | |
| 0005743 | |
| 0005739 | |
| 0005886 | |
| 0046471 |
| Alias | EFE |
|---|---|
| BTHS | |
| EFE2 | |
| G4.5 | |
| Taz1 | |
| CMD3A | |
| LVNCX | |
| XX-FW83563B9.3 | |
| tafazzin | |
| protein G4.5 | |
| AW107266 | |
| AW552613 | |
| 5031411C02Rik | |
| 9130012G04Rik | |
| RP23-436K3.6 | |
| Barth syndrome) | |
| endocardial fibroelastosis 2 | |
| tafazzin (cardiomyopathy, dilated 3A (X-linked) | |
| tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) | |
| RIKEN cDNA 9130012G04 gene | |
| OTTHUMP00000198778 | |
| OTTHUMP00000207081 | |
| endocardial fibroelastosis 2 locus | |
| OTTMUSP00000019253 | |
| OTTHUMP00000061673 | |
| TAZ gene G4.5 | |
| RIKEN cDNA 5031411C02 gene | |
| OTTHUMP00000031949 | |
| Barth syndrome gene TAZ | |
| OTTHUMP00000031948 | |
| FLJ27390 | |
| 5031411C02 | |
| MGC116399 | |
| OTTHUMP00000031947 | |
| 9130012G04 | |
| OTTHUMP00000031946 | |
| cardiomyopathy, dilated 3A (X-linked) | |
| cardiomyopathy, dilated 3A |
| Mouse chromosome position | X 37.95 cM |
|---|
| OMIM ID | 300394 |
|---|---|
| 302060 |
| Rat chromosome position | 1 |
|---|
| Hugo ID | 11577 |
|---|
| Human chromosome position | Xq28 |
|---|
| Swiss-Prot Accession | Q16635 |
|---|---|
| I7HJS2 | |
| Q810E8 | |
| Q91WF0 | |
| Q4KLG6 | |
| A3KQT2 | |
| D3DWX2 | |
| Q5HY43 | |
| Q5HY44 | |
| Q5HY45 | |
| Q5HY48 | |
| Q86XQ6 | |
| Q86XQ7 | |
| Q86XQ8 | |
| Q86XQ9 | |
| Q86XR0 |
| Unigene ID | Hs.409911 |
|---|---|
| Mm.268483 | |
| Rn.7267 |
| KEGG ID | hsa:6901 |
|---|---|
| mmu:66826 | |
| rno:363521 |
| Swiss-Prot ID | TAZ_HUMAN |
|---|
| Ensembl ID | ENSG00000102125 |
|---|---|
| ENSP00000299328 | |
| ENST00000299328 | |
| ENSP00000338891 | |
| ENST00000350743 | |
| ENSP00000218246 | |
| ENST00000351413 | |
| ENSP00000358805 | |
| ENST00000369790 | |
| ENSMUSG00000009995 | |
| ENSMUSP00000109818 | |
| ENSMUST00000114180 | |
| ENSMUSP00000134745 | |
| ENSMUST00000124200 | |
| ENSMUSP00000065270 | |
| ENSMUST00000069722 | |
| ENSRNOG00000037243 | |
| ENSRNOP00000053130 | |
| ENSRNOT00000056290 |
| Homologene ID | 37264 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 109626 |
|---|
| RGD ID | 1588532 |
|---|
| MedScan ID | 6901 |
|---|