| URN | urn:agi-llid:14683 |
|---|---|
| Total Entities | 0 |
| Connectivity | 3 |
| Name | Gnas |
| Description | GNAS complex locus XLas-like |
| Notes | This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and the 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. This gene has an antisense transcript. One of the transcripts produced from this locus, and the antisense transcript, are both paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Apr 2009] |
| GO Molecular Function | G-protein beta-subunit binding |
|---|---|
| G-protein alpha-subunit binding | |
| protein domain specific binding | |
| insulin-like growth factor receptor binding | |
| mu-type opioid receptor binding | |
| beta-2 adrenergic receptor binding | |
| corticotropin-releasing hormone receptor 1 binding | |
| ionotropic glutamate receptor binding | |
| alpha-tubulin binding | |
| nucleotide binding | |
| GTP binding | |
| guanyl nucleotide binding | |
| metal ion binding | |
| GTPase activity | |
| signal transducer activity |
| GO Cellular Component | membrane |
|---|---|
| extracellular region | |
| trans-Golgi network membrane | |
| membrane raft | |
| intrinsic to membrane | |
| heterotrimeric G-protein complex | |
| plasma membrane | |
| cell projection | |
| intracellular part | |
| cytoplasm | |
| cytoplasmic vesicle | |
| endosome | |
| cytosol | |
| transport vesicle | |
| ruffle | |
| dendrite | |
| sarcolemma | |
| vesicle |
| GO Biological Process | signal transduction |
|---|---|
| G-protein coupled receptor signaling pathway | |
| adenylate cyclase-activating G-protein coupled receptor signaling pathway | |
| adenylate cyclase-activating dopamine receptor signaling pathway | |
| positive regulation of cAMP biosynthetic process | |
| positive regulation of protein phosphorylation | |
| regulation of transcription from RNA polymerase II promoter | |
| positive regulation of osteoblast differentiation | |
| positive regulation of osteoclast differentiation | |
| GTP catabolic process | |
| genetic imprinting | |
| DNA methylation | |
| energy reserve metabolic process | |
| behavior | |
| response to drug | |
| negative regulation of renal sodium excretion | |
| positive regulation of sodium ion transport | |
| post-embryonic development | |
| skeletal system development | |
| skin development | |
| cartilage development | |
| post-embryonic body morphogenesis | |
| embryonic hindlimb morphogenesis | |
| embryonic cranial skeleton morphogenesis | |
| multicellular organism growth | |
| endochondral ossification | |
| sensory perception of chemical stimulus | |
| negative regulation of blood pressure | |
| tissue homeostasis | |
| calcium ion homeostasis |
| Pathway | protein kinase A (PKA) signaling pathway |
|---|
| Group | signal transduction |
|---|---|
| G-protein coupled receptor signaling pathway | |
| adenylate cyclase-activating G-protein coupled receptor signaling pathway | |
| adenylate cyclase-activating dopamine receptor signaling pathway | |
| positive regulation of cAMP biosynthetic process | |
| positive regulation of protein phosphorylation | |
| regulation of transcription from RNA polymerase II promoter | |
| positive regulation of osteoblast differentiation | |
| positive regulation of osteoclast differentiation | |
| GTP catabolic process | |
| genetic imprinting | |
| DNA methylation | |
| energy reserve metabolic process | |
| behavior | |
| response to drug | |
| negative regulation of renal sodium excretion | |
| positive regulation of sodium ion transport | |
| post-embryonic development | |
| skeletal system development | |
| skin development | |
| cartilage development | |
| post-embryonic body morphogenesis | |
| embryonic hindlimb morphogenesis | |
| embryonic cranial skeleton morphogenesis | |
| multicellular organism growth | |
| endochondral ossification | |
| sensory perception of chemical stimulus | |
| negative regulation of blood pressure | |
| tissue homeostasis | |
| calcium ion homeostasis | |
| G-protein beta-subunit binding | |
| G-protein alpha-subunit binding | |
| protein domain specific binding | |
| insulin-like growth factor receptor binding | |
| mu-type opioid receptor binding | |
| beta-2 adrenergic receptor binding | |
| corticotropin-releasing hormone receptor 1 binding | |
| ionotropic glutamate receptor binding | |
| alpha-tubulin binding | |
| nucleotide binding | |
| GTP binding | |
| guanyl nucleotide binding | |
| metal ion binding | |
| GTPase activity | |
| signal transducer activity | |
| membrane | |
| extracellular region | |
| trans-Golgi network membrane | |
| membrane raft | |
| intrinsic to membrane | |
| heterotrimeric G-protein complex | |
| plasma membrane | |
| cell projection | |
| intracellular part | |
| cytoplasm | |
| cytoplasmic vesicle | |
| endosome | |
| cytosol | |
| transport vesicle | |
| ruffle | |
| dendrite | |
| sarcolemma | |
| vesicle |
| MedScan ID | 14683 |
|---|---|
| 650985 |
| LocusLink ID | 14683 |
|---|---|
| 100361691 |
| Alias | P1 |
|---|---|
| P2 | |
| P3 | |
| GSP | |
| Gsa | |
| POH | |
| GPSA | |
| Nesp | |
| Gnas1 | |
| Nespl | |
| PHP1A | |
| PHP1B | |
| Gnasxl | |
| Oedsml | |
| Galphas | |
| Oed-Sml | |
| 5530400H20Rik | |
| A930027G11Rik | |
| C130027O20Rik | |
| RP23-439H2.1 | |
| protein ALEX | |
| Gs alpha subunit | |
| extra large alphas protein | |
| neuroendocrine secretory protein 55 | |
| stimulatory G-protein alpha subunit | |
| alternative gene product encoded by XL-exon | |
| adenylate cyclase-stimulating G alpha protein | |
| guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas | |
| GNAS complex locus XLas-like | |
| OTTMUSP00000017631 | |
| OTTMUSP00000029718 | |
| OTTMUSP00000029717 | |
| OTTMUSP00000029716 | |
| OTTMUSP00000029715 | |
| OTTMUSP00000029714 | |
| OTTMUSP00000018559 | |
| OTTMUSP00000017949 | |
| OTTMUSP00000017948 | |
| OTTMUSP00000017632 | |
| MGC118029 | |
| A930027G11 | |
| OTTMUSP00000017945 | |
| LOC100361691 |
| Organism | Mus musculus |
|---|---|
| Rattus norvegicus |
| Unigene ID | Mm.125770 |
|---|
| KEGG ID | mmu:14683 |
|---|---|
| rno:100361691 |
| Swiss-Prot Accession | P63094 |
|---|---|
| Q6R0H7 | |
| A6PW69 | |
| Q9Z0F1 | |
| A2A606 | |
| Q6R0H6 | |
| A2A607 | |
| A2A608 | |
| Q6R0H4 | |
| Q6R0H5 | |
| Q6R2J5 | |
| Q9JJX0 | |
| Q9Z1N8 | |
| Q9QXW5 | |
| Q9Z0H2 | |
| A2A611 | |
| A2A612 | |
| A2A613 | |
| P04894 | |
| P08755 | |
| Q3KQM5 | |
| Q3TFV3 | |
| Q3TWS9 | |
| Q3UI70 | |
| Q58E62 | |
| Q6P7U9 | |
| Q80ZK6 | |
| Q8K5E1 | |
| Q9Z1R7 | |
| A6PW72 | |
| Q8BIR3 |
| GO ID | 0001965 |
|---|---|
| 0031681 | |
| 0005525 | |
| 0003924 | |
| 0043014 | |
| 0031698 | |
| 0051430 | |
| 0019001 | |
| 0005159 | |
| 0035255 | |
| 0046872 | |
| 0031852 | |
| 0000166 | |
| 0019904 | |
| 0004871 | |
| 0006306 | |
| 0007186 | |
| 0006184 | |
| 0007189 | |
| 0007191 | |
| 0007610 | |
| 0055074 | |
| 0051216 | |
| 0048701 | |
| 0035116 | |
| 0001958 | |
| 0006112 | |
| 0071514 | |
| 0035264 | |
| 0045776 | |
| 0035814 | |
| 0030819 | |
| 0045669 | |
| 0045672 | |
| 0001934 | |
| 0010765 | |
| 0040032 | |
| 0009791 | |
| 0006357 | |
| 0042493 | |
| 0007165 | |
| 0001501 | |
| 0043588 | |
| 0001894 | |
| 0042995 | |
| 0005737 | |
| 0031410 | |
| 0005829 | |
| 0030425 | |
| 0005768 | |
| 0005576 | |
| 0005834 | |
| 0044424 | |
| 0031224 | |
| 0016020 | |
| 0045121 | |
| 0005886 | |
| 0001726 | |
| 0042383 | |
| 0032588 | |
| 0031982 | |
| 0007606 | |
| 0030133 |
| PIR ID | A25889 |
|---|---|
| S03075 |
| Swiss-Prot ID | GNAS1_MOUSE |
|---|---|
| GNAS3_MOUSE | |
| GNAS2_MOUSE | |
| ALEX_MOUSE |
| Cell Localization | Cell membrane |
|---|---|
| Cytoplasmic vesicle | |
| secretory vesicle | |
| Secreted | |
| Cell projection | |
| ruffle |
| IPI ID | IPI00416906 |
|---|---|
| IPI00469793 | |
| IPI00622913 | |
| IPI00798513 | |
| IPI00129071 | |
| IPI00323268 | |
| IPI00119853 | |
| IPI00463891 | |
| IPI00798462 | |
| IPI00471141 |
| Mouse chromosome position | 2 104.0 cM |
|---|
| Rat chromosome position | 3 |
|---|
| Homologene ID | 131319 |
|---|
| MGI ID | 95777 |
|---|
| RGD ID | 2319682 |
|---|