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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RAB5A | Human | Myocardial Ischemia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16214533 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RAB5A | Human | Myocardial Ischemia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16214533 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Rab proteins in endocytosis and Glut4 trafficking. | Kaddai V, etal., Acta Physiol (Oxf). 2008 Jan;192(1):75-88. |
3. | Overview of macroautophagy regulation in mammalian cells. | Mehrpour M, etal., Cell Res. 2010 Jul;20(7):748-62. Epub 2010 Jun 15. |
4. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
5. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
7. | GLUT4 translocation: the last 200 nanometers. | Watson RT and Pessin JE, Cell Signal. 2007 Nov;19(11):2209-17. Epub 2007 Jun 21. |
PMID:1516130 | PMID:1999336 | PMID:2493636 | PMID:2501306 | PMID:7957092 | PMID:7991565 | PMID:8294464 | PMID:8521472 | PMID:8831575 | PMID:9045618 | PMID:9524117 | PMID:9697774 |
PMID:9730828 | PMID:10329441 | PMID:10491193 | PMID:10512627 | PMID:10720461 | PMID:10722846 | PMID:10818110 | PMID:11062261 | PMID:11076863 | PMID:11099046 | PMID:11493665 | PMID:11536198 |
PMID:11682489 | PMID:11703925 | PMID:11718716 | PMID:11733506 | PMID:11788822 | PMID:11792815 | PMID:11870209 | PMID:11884531 | PMID:12034881 | PMID:12147258 | PMID:12359748 | PMID:12432064 |
PMID:12433916 | PMID:12477932 | PMID:12612085 | PMID:12668728 | PMID:12761223 | PMID:12783862 | PMID:12832475 | PMID:12972505 | PMID:14600265 | PMID:14613930 | PMID:14617813 | PMID:14644159 |
PMID:14669515 | PMID:14978216 | PMID:15014045 | PMID:15016378 | PMID:15023538 | PMID:15078902 | PMID:15207266 | PMID:15328530 | PMID:15377662 | PMID:15378032 | PMID:15388334 | PMID:15489334 |
PMID:15489336 | PMID:15782196 | PMID:16034420 | PMID:16141272 | PMID:16344560 | PMID:16354686 | PMID:16381901 | PMID:16525121 | PMID:16554017 | PMID:16622416 | PMID:16754960 | PMID:16890161 |
PMID:16902405 | PMID:16923123 | PMID:17081065 | PMID:17173037 | PMID:17301141 | PMID:17301152 | PMID:17353931 | PMID:17403676 | PMID:17473071 | PMID:17524504 | PMID:17562788 | PMID:17581628 |
PMID:17611268 | PMID:18005733 | PMID:18022941 | PMID:18034774 | PMID:18498773 | PMID:18725540 | PMID:18755741 | PMID:18767904 | PMID:18957427 | PMID:18974049 | PMID:18982021 | PMID:19032933 |
PMID:19118546 | PMID:19126785 | PMID:19322201 | PMID:19372461 | PMID:19376974 | PMID:19398555 | PMID:19460345 | PMID:19620308 | PMID:19656886 | PMID:19723633 | PMID:19759177 | PMID:19795375 |
PMID:19819222 | PMID:19830447 | PMID:19913121 | PMID:19923319 | PMID:19966785 | PMID:20376209 | PMID:20412119 | PMID:20457610 | PMID:20458337 | PMID:20472552 | PMID:20534488 | PMID:20558162 |
PMID:20628086 | PMID:20847427 | PMID:20926780 | PMID:20943774 | PMID:21068542 | PMID:21104291 | PMID:21203429 | PMID:21252234 | PMID:21266579 | PMID:21300063 | PMID:21378754 | PMID:21423773 |
PMID:21500550 | PMID:21640764 | PMID:21645192 | PMID:21655223 | PMID:21669283 | PMID:21835792 | PMID:21849022 | PMID:21873635 | PMID:21895870 | PMID:21987812 | PMID:21988832 | PMID:22178872 |
PMID:22341461 | PMID:22431521 | PMID:22547071 | PMID:22558309 | PMID:22768177 | PMID:22833562 | PMID:22939629 | PMID:22942286 | PMID:22952906 | PMID:23048039 | PMID:23086000 | PMID:23182941 |
PMID:23291133 | PMID:23382462 | PMID:23393387 | PMID:23434372 | PMID:23454239 | PMID:23536683 | PMID:23606746 | PMID:23687301 | PMID:23733193 | PMID:23813952 | PMID:23815289 | PMID:23824909 |
PMID:23940042 | PMID:24102721 | PMID:24334765 | PMID:24440914 | PMID:24466349 | PMID:24576301 | PMID:24587345 | PMID:24644286 | PMID:24659799 | PMID:24662486 | PMID:24727246 | PMID:24788845 |
PMID:24848261 | PMID:24872409 | PMID:24891604 | PMID:24980434 | PMID:25049275 | PMID:25107275 | PMID:25152371 | PMID:25179218 | PMID:25198863 | PMID:25281560 | PMID:25483964 | PMID:25496667 |
PMID:25566515 | PMID:25711083 | PMID:25737280 | PMID:25763873 | PMID:25869668 | PMID:25900982 | PMID:25915798 | PMID:26005850 | PMID:26061722 | PMID:26112597 | PMID:26168723 | PMID:26181205 |
PMID:26186194 | PMID:26194181 | PMID:26195760 | PMID:26261586 | PMID:26344197 | PMID:26344766 | PMID:26355680 | PMID:26430212 | PMID:26443539 | PMID:26473288 | PMID:26496610 | PMID:26528697 |
PMID:26582392 | PMID:26618866 | PMID:26680696 | PMID:27023526 | PMID:27342126 | PMID:27432908 | PMID:27462432 | PMID:27556945 | PMID:27607061 | PMID:27666726 | PMID:27764233 | PMID:27867015 |
PMID:28090783 | PMID:28103577 | PMID:28243729 | PMID:28264927 | PMID:28455099 | PMID:28514442 | PMID:28575494 | PMID:28634871 | PMID:28650718 | PMID:28650977 | PMID:28675297 | PMID:28742203 |
PMID:28834690 | PMID:28849149 | PMID:28867190 | PMID:28899395 | PMID:28968219 | PMID:29053956 | PMID:29065764 | PMID:29127297 | PMID:29128334 | PMID:29229926 | PMID:29360040 | PMID:29361527 |
PMID:29469808 | PMID:29507755 | PMID:29568061 | PMID:29626103 | PMID:29740032 | PMID:29743547 | PMID:29868450 | PMID:29893854 | PMID:30111582 | PMID:30333257 | PMID:30463901 | PMID:30575818 |
PMID:30655611 | PMID:30659094 | PMID:30765602 | PMID:30804014 | PMID:31091453 | PMID:31221728 | PMID:31298480 | PMID:31337623 | PMID:31358736 | PMID:31536960 | PMID:31558725 | PMID:31586073 |
PMID:31705388 | PMID:31811856 | PMID:31980649 | PMID:32203420 | PMID:32296183 | PMID:32304339 | PMID:32344865 | PMID:32457219 | PMID:32560826 | PMID:32597834 | PMID:32807901 | PMID:32814053 |
PMID:32913203 | PMID:33092247 | PMID:33095475 | PMID:33137306 | PMID:33306668 | PMID:33341673 | PMID:33416169 | PMID:33692360 | PMID:33831402 | PMID:33845483 | PMID:33961781 | PMID:34079125 |
PMID:34129971 | PMID:34281589 | PMID:34383013 | PMID:34732716 | PMID:34826799 | PMID:35017116 | PMID:35032548 | PMID:35271311 | PMID:35343654 | PMID:35831314 | PMID:35944360 | PMID:36168628 |
PMID:36215168 | PMID:36244648 | PMID:36424410 | PMID:36438897 | PMID:36604604 | PMID:36610398 | PMID:36810288 | PMID:36882040 | PMID:37054706 | PMID:37203239 | PMID:37225719 | PMID:37267906 |
PMID:37314216 | PMID:37322017 | PMID:37423034 | PMID:37725090 | PMID:37797694 | PMID:37820061 | PMID:37827155 | PMID:38109552 | PMID:38282155 | PMID:38470169 | PMID:38847490 |
RAB5A (Homo sapiens - human) |
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Rab5a (Mus musculus - house mouse) |
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Rab5a (Rattus norvegicus - Norway rat) |
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Rab5a (Chinchilla lanigera - long-tailed chinchilla) |
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RAB5A (Pan paniscus - bonobo/pygmy chimpanzee) |
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RAB5A (Canis lupus familiaris - dog) |
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Rab5a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RAB5A (Sus scrofa - pig) |
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RAB5A (Chlorocebus sabaeus - green monkey) |
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Rab5a (Heterocephalus glaber - naked mole-rat) |
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Variants in RAB5A
20 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 3p24.3(chr3:18179713-22678013)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051507]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051507]|See cases [RCV000051507] | Chr3:18179713..22678013 [GRCh38] Chr3:18221205..22719504 [GRCh37] Chr3:18196209..22694508 [NCBI36] Chr3:3p24.3 |
pathogenic |
GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3 | copy number gain | See cases [RCV000051439] | Chr3:18253476..20137057 [GRCh38] Chr3:18294968..20178549 [GRCh37] Chr3:18269972..20153553 [NCBI36] Chr3:3p24.3 |
uncertain significance |
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 | copy number gain | See cases [RCV000051690] | Chr3:52066..20280127 [GRCh38] Chr3:93749..20321619 [GRCh37] Chr3:68749..20296623 [NCBI36] Chr3:3p26.3-24.3 |
pathogenic |
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 | copy number gain | See cases [RCV000051720] | Chr3:11463328..38919543 [GRCh38] Chr3:11504802..38961034 [GRCh37] Chr3:11479802..38936038 [NCBI36] Chr3:3p25.3-22.2 |
pathogenic |
GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3 | copy number gain | See cases [RCV000051721] | Chr3:19915382..25537973 [GRCh38] Chr3:19956874..25579464 [GRCh37] Chr3:19931878..25554468 [NCBI36] Chr3:3p24.3-24.2 |
pathogenic |
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 | copy number gain | See cases [RCV000137941] | Chr3:32241..20334387 [GRCh38] Chr3:73914..20375879 [GRCh37] Chr3:48914..20350883 [NCBI36] Chr3:3p26.3-24.3 |
pathogenic |
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 | copy number gain | See cases [RCV000141810] | Chr3:53308..41381521 [GRCh38] Chr3:94991..41423012 [GRCh37] Chr3:69991..41398016 [NCBI36] Chr3:3p26.3-22.1 |
pathogenic |
GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4 | copy number gain | See cases [RCV000143767] | Chr3:14360747..21656134 [GRCh38] Chr3:14402247..21697626 [GRCh37] Chr3:14377251..21672630 [NCBI36] Chr3:3p25.1-24.3 |
pathogenic |
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 | copy number gain | See cases [RCV000051097] | Chr3:52266..37148076 [GRCh38] Chr3:93949..37189567 [GRCh37] Chr3:68949..37164571 [NCBI36] Chr3:3p26.3-22.2 |
pathogenic |
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] | Chr3:52266..29248782 [GRCh38] Chr3:93949..29290273 [GRCh37] Chr3:68949..29265277 [NCBI36] Chr3:3p26.3-24.1 |
pathogenic |
GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1 | copy number loss | See cases [RCV000136545] | Chr3:18366779..20647947 [GRCh38] Chr3:18408271..20689439 [GRCh37] Chr3:18383275..20664443 [NCBI36] Chr3:3p24.3 |
uncertain significance |
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 | copy number gain | See cases [RCV000138004] | Chr3:32241..30064208 [GRCh38] Chr3:73914..30105699 [GRCh37] Chr3:48914..30080703 [NCBI36] Chr3:3p26.3-24.1 |
pathogenic |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 | copy number gain | See cases [RCV000510429] | Chr3:61891..33958201 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 | copy number gain | See cases [RCV000447247] | Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 | copy number gain | See cases [RCV000448528] | Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 | copy number gain | See cases [RCV000511463] | Chr3:61891..37459464 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 | copy number gain | not provided [RCV000682249] | Chr3:16923595..45249923 [GRCh37] Chr3:3p24.3-21.31 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 | copy number gain | not provided [RCV000742260] | Chr3:13276005..24295240 [GRCh37] Chr3:3p25.2-24.2 |
pathogenic |
NM_004162.5(RAB5A):c.567A>G (p.Pro189=) | single nucleotide variant | not provided [RCV000954394] | Chr3:19983742 [GRCh38] Chr3:20025234 [GRCh37] Chr3:3p24.3 |
benign |
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) | copy number gain | not specified [RCV002053299] | Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p24.3(chr3:19961330-20231519)x3 | copy number gain | not provided [RCV000742285] | Chr3:19961330..20231519 [GRCh37] Chr3:3p24.3 |
benign |
Single allele | deletion | 3p- syndrome [RCV002280352] | Chr3:13371737..20095506 [GRCh38] Chr3:3p25.1-24.3 |
pathogenic |
GRCh37/hg19 3p24.3(chr3:19833713-20933527)x3 | copy number gain | not provided [RCV000849357] | Chr3:19833713..20933527 [GRCh37] Chr3:3p24.3 |
uncertain significance |
GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1 | copy number loss | not provided [RCV000848353] | Chr3:19064852..26448689 [GRCh37] Chr3:3p24.3-24.1 |
pathogenic |
NM_004162.5(RAB5A):c.*1094C>G | single nucleotide variant | not provided [RCV001535087] | Chr3:19984917 [GRCh38] Chr3:20026409 [GRCh37] Chr3:3p24.3 |
benign |
NM_004162.5(RAB5A):c.325G>A (p.Ala109Thr) | single nucleotide variant | not specified [RCV004258738] | Chr3:19976056 [GRCh38] Chr3:20017548 [GRCh37] Chr3:3p24.3 |
uncertain significance |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) | copy number gain | not specified [RCV002053300] | Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
NC_000003.11:g.(?_16710965)_(41275270_?)del | deletion | not provided [RCV001958625] | Chr3:16710965..41275270 [GRCh37] Chr3:3p24.3-22.1 |
pathogenic |
NM_004162.5(RAB5A):c.373A>G (p.Asn125Asp) | single nucleotide variant | not specified [RCV004191439] | Chr3:19976104 [GRCh38] Chr3:20017596 [GRCh37] Chr3:3p24.3 |
uncertain significance |
NM_004162.5(RAB5A):c.16G>A (p.Ala6Thr) | single nucleotide variant | not specified [RCV004177171] | Chr3:19950914 [GRCh38] Chr3:19992406 [GRCh37] Chr3:3p24.3 |
uncertain significance |
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 | copy number gain | not provided [RCV003484107] | Chr3:310747..28297447 [GRCh37] Chr3:3p26.3-24.1 |
pathogenic |
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 | copy number gain | not provided [RCV004577500] | Chr3:60000..34461438 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
NM_004162.5(RAB5A):c.511A>G (p.Asn171Asp) | single nucleotide variant | not specified [RCV004852241] | Chr3:19978382 [GRCh38] Chr3:20019874 [GRCh37] Chr3:3p24.3 |
uncertain significance |
GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3 | copy number gain | See cases [RCV002287839] | Chr3:13836340..25357427 [GRCh37] Chr3:3p25.1-24.2 |
pathogenic |
NM_004162.5(RAB5A):c.416A>G (p.Asn139Ser) | single nucleotide variant | not specified [RCV004158934] | Chr3:19976147 [GRCh38] Chr3:20017639 [GRCh37] Chr3:3p24.3 |
uncertain significance |
NM_004162.5(RAB5A):c.190C>T (p.Leu64Phe) | single nucleotide variant | not specified [RCV004287158] | Chr3:19975627 [GRCh38] Chr3:20017119 [GRCh37] Chr3:3p24.3 |
uncertain significance |
NM_004162.5(RAB5A):c.395G>A (p.Gly132Glu) | single nucleotide variant | not provided [RCV003456588] | Chr3:19976126 [GRCh38] Chr3:20017618 [GRCh37] Chr3:3p24.3 |
uncertain significance |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 | copy number gain | not specified [RCV003986437] | Chr3:61891..33946644 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
NM_004162.5(RAB5A):c.478A>C (p.Met160Leu) | single nucleotide variant | not specified [RCV004443220] | Chr3:19978349 [GRCh38] Chr3:20019841 [GRCh37] Chr3:3p24.3 |
uncertain significance |
NM_004162.5(RAB5A):c.370C>G (p.Pro124Ala) | single nucleotide variant | not specified [RCV004665067] | Chr3:19976101 [GRCh38] Chr3:20017593 [GRCh37] Chr3:3p24.3 |
uncertain significance |
NM_004162.5(RAB5A):c.289A>G (p.Ile97Val) | single nucleotide variant | not specified [RCV004669420] | Chr3:19975726 [GRCh38] Chr3:20017218 [GRCh37] Chr3:3p24.3 |
uncertain significance |
NM_004162.5(RAB5A):c.507T>A (p.Asn169Lys) | single nucleotide variant | not specified [RCV004665066] | Chr3:19978378 [GRCh38] Chr3:20019870 [GRCh37] Chr3:3p24.3 |
uncertain significance |
NM_004162.5(RAB5A):c.40A>T (p.Thr14Ser) | single nucleotide variant | not specified [RCV004852238] | Chr3:19950938 [GRCh38] Chr3:19992430 [GRCh37] Chr3:3p24.3 |
uncertain significance |
NM_004162.5(RAB5A):c.523A>G (p.Met175Val) | single nucleotide variant | not specified [RCV004852239] | Chr3:19978394 [GRCh38] Chr3:20019886 [GRCh37] Chr3:3p24.3 |
uncertain significance |
NM_004162.5(RAB5A):c.210G>C (p.Lys70Asn) | single nucleotide variant | not specified [RCV004852240] | Chr3:19975647 [GRCh38] Chr3:20017139 [GRCh37] Chr3:3p24.3 |
uncertain significance |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH91784 |
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D3S2948E |
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D3S3483E |
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RAB5A_779 |
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HSC13E052 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2439 | 2788 | 2252 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7305 | 6471 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NM_001292048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_004162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047448648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054347413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001740225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC097635 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF464088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF498936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC001267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC018288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BJ991078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR536492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA972638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC330362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M28215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X13903 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000273047 ⟹ ENSP00000273047 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000412966 ⟹ ENSP00000403533 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000422242 ⟹ ENSP00000411941 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000443878 ⟹ ENSP00000398450 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000446547 ⟹ ENSP00000396632 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000469122 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000473608 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000476544 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001292048 ⟹ NP_001278977 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_004162 ⟹ NP_004153 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047448648 ⟹ XP_047304604 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054347413 ⟹ XP_054203388 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001278977 | (Get FASTA) | NCBI Sequence Viewer |
NP_004153 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047304604 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054203388 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA60245 | (Get FASTA) | NCBI Sequence Viewer |
AAH01267 | (Get FASTA) | NCBI Sequence Viewer | |
AAH18288 | (Get FASTA) | NCBI Sequence Viewer | |
AAM21084 | (Get FASTA) | NCBI Sequence Viewer | |
AAO15677 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35504 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58767 | (Get FASTA) | NCBI Sequence Viewer | |
CAA32103 | (Get FASTA) | NCBI Sequence Viewer | |
CAG38731 | (Get FASTA) | NCBI Sequence Viewer | |
EAW64301 | (Get FASTA) | NCBI Sequence Viewer | |
EAW64302 | (Get FASTA) | NCBI Sequence Viewer | |
EAW64303 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000273047 | ||
ENSP00000273047.4 | |||
ENSP00000396632.1 | |||
ENSP00000398450.1 | |||
ENSP00000403533.1 | |||
ENSP00000411941 | |||
ENSP00000411941.1 | |||
GenBank Protein | P20339 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_004153 ⟸ NM_004162 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B4DJA5 (UniProtKB/Swiss-Prot), Q6FI44 (UniProtKB/Swiss-Prot), P20339 (UniProtKB/Swiss-Prot), A0A0A1HAN9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001278977 ⟸ NM_001292048 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A0A1HAN9 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000403533 ⟸ ENST00000412966 |
Ensembl Acc Id: | ENSP00000398450 ⟸ ENST00000443878 |
Ensembl Acc Id: | ENSP00000273047 ⟸ ENST00000273047 |
Ensembl Acc Id: | ENSP00000396632 ⟸ ENST00000446547 |
Ensembl Acc Id: | ENSP00000411941 ⟸ ENST00000422242 |
RefSeq Acc Id: | XP_047304604 ⟸ XM_047448648 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054203388 ⟸ XM_054347413 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P20339-F1-model_v2 | AlphaFold | P20339 | 1-215 | view protein structure |
RGD ID: | 6863772 | ||||||||
Promoter ID: | EPDNEW_H5051 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB5A_2 | ||||||||
Description: | RAB5A, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H5052 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6863774 | ||||||||
Promoter ID: | EPDNEW_H5052 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB5A_1 | ||||||||
Description: | RAB5A, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H5051 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6801138 | ||||||||
Promoter ID: | HG_KWN:44020 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000252137, OTTHUMT00000339744, OTTHUMT00000339745, OTTHUMT00000339746, OTTHUMT00000339747, OTTHUMT00000339748, OTTHUMT00000339749, OTTHUMT00000339753, UC003CBM.1, UC010HEY.1 | ||||||||
Position: |
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RGD ID: | 6851550 | ||||||||
Promoter ID: | EP73576 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_RAB5A | ||||||||
Description: | RAB5A, member RAS oncogene family. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:9783 | AgrOrtholog |
COSMIC | RAB5A | COSMIC |
Ensembl Genes | ENSG00000144566 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000273047 | ENTREZGENE |
ENST00000273047.9 | UniProtKB/Swiss-Prot | |
ENST00000412966.5 | UniProtKB/TrEMBL | |
ENST00000422242 | ENTREZGENE | |
ENST00000422242.1 | UniProtKB/Swiss-Prot | |
ENST00000443878.1 | UniProtKB/TrEMBL | |
ENST00000446547.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000144566 | GTEx |
HGNC ID | HGNC:9783 | ENTREZGENE |
Human Proteome Map | RAB5A | Human Proteome Map |
InterPro | P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Small_GTP-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:5868 | UniProtKB/Swiss-Prot |
NCBI Gene | 5868 | ENTREZGENE |
OMIM | 179512 | OMIM |
PANTHER | PTHR47978 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | Ras | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA34143 | PharmGKB |
PRINTS | RASTRNSFRMNG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAS | UniProtKB/TrEMBL | |
RHO | UniProtKB/TrEMBL | |
SMART | RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RAS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RHO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0A1HAN9 | ENTREZGENE, UniProtKB/TrEMBL |
B4DJA5 | ENTREZGENE | |
C9J3X8_HUMAN | UniProtKB/TrEMBL | |
F8WCY6_HUMAN | UniProtKB/TrEMBL | |
F8WD79_HUMAN | UniProtKB/TrEMBL | |
P20339 | ENTREZGENE | |
Q6FI44 | ENTREZGENE | |
RAB5A_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B4DJA5 | UniProtKB/Swiss-Prot |
Q6FI44 | UniProtKB/Swiss-Prot |