| Gene Symbol |
MADD
|
| Entrez Gene |
8567
|
| Alt Symbol |
DENN, IG20, RAB3GEP
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
MAP-kinase activating death domain
|
| Other Description |
MAP kinase-activating death domain protein|Rab3 GDP/GTP exchange factor|differentially expressed in normal and neoplastic cells|insulinoma glucagonoma clone 20
|
| Swissprots |
Q8WXG6 Q8WZ63 Q8WXG5 A8K8S7 O15293 Q8WXG4 Q8WXG3 Q15741 Q8IWD7 B5MEE5 D3DQR4 Q15732 O15065
|
| Accessions |
AAB05595 EAW67930 EAW67931 EAW67932 EAW67933 EAW67934 EAW67935 EAW67936 EAW67937 EAW67938 EAW67939 EAW67940 Q8WXG6 AB002356 BAA20814 AF440100 AAL40265 AF440101 AAL40266 AF440102 AAL40267 AF440103 AAL40268 AF440434 AAL35261 AK092919 AK093619 AK292442 BAF85131 AK308780 AU077339 BC040484 AAH40484 BE242736 DA187733 DA759613 U44953 AAD12154 U77352 AAB57735 XM_005253188 XP_005253245 XM_005253189 XP_005253246 XM_005253190 XP_005253247 XM_005253191 XP_005253248 XM_005253192 XP_005253249 XM_005253193 XP_005253250 XM_005253194 XP_005253251 XM_005253195 XP_005253252 XM_005253196 XP_005253253 XM_005253197 XP_005253254 XM_005253198 XP_005253255 XM_005253199 XP_005253256 XM_005253200 XP_005253257 XM_005253201 XP_005253258 XM_005253202 XP_005253259 XM_005253203 XP_005253260 XM_005253204 XP_005253261 XM_005253205 XP_005253262 XM_005253206 XP_005253263 XM_006718360 XP_006718423 XM_006718361 XP_006718424 XM_006718362 XP_006718425 XM_006718363 XP_006718426 XM_011520428 XP_011518730 XM_011520429 XP_011518731 XM_011520430 XP_011518732 XM_011520431 XP_011518733 XM_011520432 XP_011518734 XM_011520433 XP_011518735 XM_011520434 XP_011518736 XM_011520435 XP_011518737 XM_011520436 XP_011518738 XM_011520437 XP_011518739 XM_011520438 XP_011518740 XM_011520439 XP_011518741 XM_011520440 XP_011518742 XM_011520441 XP_011518743 XM_011520442 XP_011518744 XR_242830 XR_930922 NM_001135943 NP_001129415 NM_001135944 NP_001129416 NM_003682 NP_003673 NM_130470 NP_569826 NM_130471 NP_569827 NM_130472 NP_569828 NM_130473 NP_569829 NM_130474 NP_569830 NM_130475 NP_569831 NM_130476 NP_569832
|
| Function |
Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is resistant and isoform 3 and isoform 4 have no effect. {ECO:0000269|PubMed:11577081, ECO:0000269|PubMed:14716293, ECO:0000269|PubMed:14735464, ECO:0000269|PubMed:15007167, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:9115275}.
|
| Subcellular Location |
Membrane {ECO:0000269|PubMed:8988362}. Cytoplasm {ECO:0000269|PubMed:8988362}.
|
| Tissue Specificity |
Highly expressed in fetal brain and kidney; adult testis, ovary, brain and heart. Isoform 5 is constitutively expressed in all tissues. Isoform 7 is expressed in fetal liver and in several cancer cell lines. {ECO:0000269|PubMed:14716293, ECO:0000269|PubMed:8988362, ECO:0000269|PubMed:9796103}.
|