| URN | urn:agi-llid:2778 |
|---|---|
| Connectivity | 528 |
| Name | Gnas |
| Description | GNAS complex locus |
| 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 5' exons. Some transcripts contains a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are 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 encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq] |
| Pathway | AdrenergicRb -> CREB signaling |
|---|---|
| AdrenergicRb -> STAT3 signaling | |
| AngiotensinR -> CREB/ELK-SRF/TP53 signaling | |
| ProstaglandinIR -> ATF1/ELK-SRF/CREB signaling | |
| TachykininR -> ELK-SRF signaling | |
| VIPR -> CREB/CEBP signaling | |
| DopamineR1 -> CREB/ELK-SRF signaling | |
| FSHR -> CREB/ELK-SRF/GATA4 signaling | |
| GlucagonR -> CREB/ELK-SRF/SP1 signaling | |
| SerotoninR4/6/7 -> NR3C signaling | |
| VasopressinR2 -> CREB/ELK-SRF/AP-1/EGR signaling | |
| VasopressinR2 -> MEF/MYOD/NFATC/MYOG signaling | |
| VasopressinR2 -> STAT signaling | |
| melanocortin system pathway | |
| corticotropin-releasing hormone signaling pathway |
| GO Molecular Function | signal transducer activity |
|---|---|
| nucleotide binding | |
| guanyl nucleotide binding | |
| GTP binding | |
| GTPase activity |
| GO Cellular Component | extracellular region |
|---|---|
| plasma membrane | |
| ruffle | |
| cytoplasm | |
| intrinsic to membrane | |
| cytoplasmic vesicle | |
| trans-Golgi network membrane | |
| transport vesicle | |
| stored secretory granule | |
| membrane fraction | |
| heterotrimeric G-protein complex |
| GO Biological Process | post-embryonic development |
|---|---|
| female pregnancy | |
| endochondral ossification | |
| positive regulation of osteoblast differentiation | |
| cartilage development | |
| positive regulation of osteoclast differentiation | |
| post-embryonic body morphogenesis | |
| embryonic hindlimb morphogenesis | |
| embryonic cranial skeleton morphogenesis | |
| sensory perception of smell | |
| signal transduction | |
| protein secretion | |
| activation of adenylate cyclase activity by dopamine receptor signaling pathway | |
| activation of adenylate cyclase activity | |
| energy reserve metabolic process | |
| hormone-mediated signaling pathway | |
| response to drug | |
| intracellular transport | |
| G-protein coupled receptor protein signaling pathway |
| Ariadne Ontology | Gs |
|---|
| Group | Gs |
|---|---|
| extracellular region | |
| post-embryonic development | |
| female pregnancy | |
| endochondral ossification | |
| positive regulation of osteoblast differentiation | |
| cartilage development | |
| positive regulation of osteoclast differentiation | |
| post-embryonic body morphogenesis | |
| embryonic hindlimb morphogenesis | |
| embryonic cranial skeleton morphogenesis | |
| sensory perception of smell | |
| signal transduction | |
| protein secretion | |
| activation of adenylate cyclase activity by dopamine receptor signaling pathway | |
| activation of adenylate cyclase activity | |
| energy reserve metabolic process | |
| hormone-mediated signaling pathway | |
| response to drug | |
| intracellular transport | |
| G-protein coupled receptor protein signaling pathway | |
| signal transducer activity | |
| nucleotide binding | |
| guanyl nucleotide binding | |
| GTP binding | |
| GTPase activity | |
| plasma membrane | |
| ruffle | |
| cytoplasm | |
| intrinsic to membrane | |
| cytoplasmic vesicle | |
| trans-Golgi network membrane | |
| transport vesicle | |
| stored secretory granule | |
| membrane fraction | |
| heterotrimeric G-protein complex |
| MedScan ID | 2778 |
|---|
| Hugo ID | 4392 |
|---|
| Human chromosome position | 20q13.3 |
|---|
| LocusLink ID | 2778 |
|---|
| Alias | AHO |
|---|---|
| GSA | |
| GSP | |
| POH | |
| GPSA | |
| NESP | |
| GNAS1 | |
| PHP1A | |
| PHP1B | |
| PHP1C | |
| C20orf45 | |
| MGC33735 | |
| RP4-543J19.4 | |
| protein ALEX | |
| secretogranin VI | |
| OTTHUMP00000031742 | |
| OTTHUMP00000174399 | |
| OTTHUMP00000174400 | |
| OTTHUMP00000196028 | |
| OTTHUMP00000196029 | |
| OTTHUMP00000196030 | |
| extra large alphas protein | |
| neuroendocrine secretory protein | |
| guanine nucleotide regulatory protein | |
| alternative gene product encoded by XL-exon | |
| adenylate cyclase-stimulating G alpha protein | |
| guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas | |
| guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 | |
| 1 alpha-s | |
| 1 XL-alpha-s | |
| 5530400H20 | |
| 5530400H20Rik | |
| adenylate cyclase-stimulating G | |
| adenylate cyclase-stimulation G alpha protein | |
| ALEX | |
| C130027O20 | |
| C130027O20Rik | |
| dJ309F20.1.1 | |
| dJ806M20.3.3 | |
| G alpha S | |
| G(s) protein | |
| G(s) proteins | |
| G(s)-protein | |
| GalphaS | |
| gnas | |
| GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus | |
| GNAS complex locus | |
| GNAS I | |
| GNASXL | |
| Gnpas | |
| Gs alpha | |
| Gs alpha subunit | |
| Gs protein | |
| Gs proteins | |
| G-s-alpha | |
| Gs-protein | |
| guanine nucleotide binding protein (G protein), alpha activating activity polypeptide | |
| guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide | |
| guanine nucleotide binding protein alpha s | |
| guanine nucleotide binding protein, alpha stimulating | |
| guanine nucleotide binding protein, alpha stimulating, extra large | |
| guanine nucleotide-binding protein Gs | |
| guanine nucleotide-binding protein G-s | |
| guanine nucleotide-binding protein Gs alpha-2 subunit | |
| Guanine nucleotide-binding protein Gs, alpha subunit | |
| Guanine nucleotide-binding protein G-s, alpha subunit | |
| Guanine nucleotide-binding protein G-s, alpha subunit, Genbank no U51565 | |
| LOC82944 | |
| NESP55 | |
| Nespl | |
| neuroendocrine secretory protein 55 | |
| neuroendocrine secretory protein-like | |
| neuroendocrine-specific Golgi protein p55 | |
| neuroendocrine-specific Golgi protein p55 isoform 1 | |
| neuroendocrine-specific Golgi protein p55 isoform I | |
| oedematous-small | |
| Oedsml | |
| Oed-Sml | |
| OTTHUMP00000031740 | |
| OTTHUMP00000031756 | |
| OTTHUMP00000196026 | |
| paternally expressed G protein XL alpha S | |
| Pseudohypoparathyroidism, type IB gene | |
| stimulatory G-protein alpha subunit | |
| XL alpha s | |
| XLalphas | |
| XLas protein | |
| Xlas/Alex | |
| XXLalphas |
| Organism | Homo sapiens |
|---|
| OMIM ID | 139320 |
|---|---|
| 102200 | |
| 174800 | |
| 166350 | |
| 219090 | |
| 103580 | |
| 603233 | |
| 612462 | |
| 612463 |
| GO ID | 0005525 |
|---|---|
| 0003924 | |
| 0019001 | |
| 0000166 | |
| 0004871 | |
| 0007186 | |
| 0007190 | |
| 0007191 | |
| 0051216 | |
| 0048701 | |
| 0035116 | |
| 0001958 | |
| 0006112 | |
| 0007565 | |
| 0009755 | |
| 0046907 | |
| 0045669 | |
| 0045672 | |
| 0040032 | |
| 0009791 | |
| 0009306 | |
| 0042493 | |
| 0007608 | |
| 0005737 | |
| 0031410 | |
| 0005576 | |
| 0005834 | |
| 0031224 | |
| 0005624 | |
| 0005886 | |
| 0001726 | |
| 0032588 | |
| 0030133 | |
| 0030141 | |
| 0007165 |
| Swiss-Prot Accession | P63092 |
|---|---|
| A6NI00 | |
| P84996 | |
| O95467 | |
| Q5JWF2 | |
| O60726 | |
| O75632 | |
| O75633 | |
| Q14455 | |
| Q5FWY2 | |
| Q5JW64 | |
| Q5JWD1 | |
| Q5JWE8 | |
| Q5JWE9 | |
| A2A2S4 | |
| B2RB88 | |
| O95417 | |
| P04895 | |
| Q12927 | |
| Q14433 | |
| Q32P26 | |
| Q5JWD2 | |
| Q5JWD4 | |
| Q5JWD5 | |
| Q6NR75 | |
| Q6NXS0 | |
| Q8TBC0 | |
| Q96H70 | |
| A2A2S3 | |
| O75684 | |
| O75685 | |
| Q5JW67 | |
| Q5JWF1 | |
| Q9NY42 |
| PIR ID | B31927 |
|---|---|
| C31927 |
| Unigene ID | Hs.125898 |
|---|---|
| Hs.694849 |
| KEGG ID | hsa:2778 |
|---|
| Swiss-Prot ID | ALEX_HUMAN |
|---|---|
| GNAS3_HUMAN | |
| GNAS2_HUMAN | |
| GNAS1_HUMAN | |
| A6NI00_HUMAN | |
| B2RB88_HUMAN |
| Cell Localization | Cell membrane |
|---|---|
| Cell projection | |
| ruffle | |
| Cytoplasmic vesicle | |
| secretory vesicle | |
| Secreted | |
| Cytoplasm |
| IPI ID | IPI00790404 |
|---|---|
| IPI00009881 | |
| IPI00219835 | |
| IPI00514055 | |
| IPI00644936 | |
| IPI00095891 | |
| IPI00154366 | |
| IPI00646491 | |
| IPI00640867 | |
| IPI00465380 | |
| IPI00385033 | |
| IPI00006762 | |
| IPI00030939 | |
| IPI00871191 | |
| IPI00903161 | |
| IPI00644474 | |
| IPI00792774 | |
| IPI00647637 | |
| IPI00646672 | |
| IPI00853318 | |
| IPI00853238 |
| RGD ID | 2716 |
|---|