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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RAB1B | 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) | RAB1B | 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. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1918138 | PMID:7592724 | PMID:8836150 | PMID:9030196 | PMID:9437002 | PMID:10493955 | PMID:11076863 | PMID:11230166 | PMID:11256614 | PMID:11306556 | PMID:12051767 | PMID:12477932 |
PMID:12802079 | PMID:15489334 | PMID:15489336 | PMID:15694364 | PMID:15796781 | PMID:16381901 | PMID:17353931 | PMID:17429068 | PMID:17474147 | PMID:17947549 | PMID:18187620 | PMID:19786618 |
PMID:20164217 | PMID:20458337 | PMID:20545908 | PMID:20937701 | PMID:20980813 | PMID:21093099 | PMID:21378754 | PMID:21680502 | PMID:21832049 | PMID:21873635 | PMID:21926972 | PMID:21988832 |
PMID:22011575 | PMID:22260459 | PMID:22863883 | PMID:22939629 | PMID:23188820 | PMID:23236136 | PMID:23246001 | PMID:23288104 | PMID:23325787 | PMID:23824909 | PMID:23885123 | PMID:24457600 |
PMID:25107275 | PMID:25970785 | PMID:26186194 | PMID:26209634 | PMID:26344197 | PMID:26472760 | PMID:26824392 | PMID:26949739 | PMID:26977884 | PMID:27342126 | PMID:27462432 | PMID:27712585 |
PMID:28316326 | PMID:28319085 | PMID:28514442 | PMID:28515276 | PMID:28522593 | PMID:28718761 | PMID:28977666 | PMID:29020629 | PMID:29128334 | PMID:29509190 | PMID:29564676 | PMID:29568061 |
PMID:29845934 | PMID:29955894 | PMID:30559450 | PMID:30575818 | PMID:30655362 | PMID:30804014 | PMID:31046837 | PMID:31091453 | PMID:31180492 | PMID:31182584 | PMID:31300519 | PMID:31375559 |
PMID:31527615 | PMID:31586073 | PMID:31723608 | PMID:31871319 | PMID:31980649 | PMID:32176628 | PMID:32203420 | PMID:32235678 | PMID:32296183 | PMID:32687490 | PMID:32913203 | PMID:33022573 |
PMID:33144569 | PMID:33469029 | PMID:33545068 | PMID:33961781 | PMID:34079125 | PMID:34349018 | PMID:34428256 | PMID:34597346 | PMID:34709727 | PMID:35032548 | PMID:35256949 | PMID:35271311 |
PMID:35338135 | PMID:35384245 | PMID:35446349 | PMID:35509820 | PMID:35575683 | PMID:35676659 | PMID:35831314 | PMID:35906200 | PMID:35944360 | PMID:36042349 | PMID:36057605 | PMID:36114006 |
PMID:36215168 | PMID:36225252 | PMID:36244648 | PMID:36346305 | PMID:36424410 | PMID:36517590 | PMID:36527092 | PMID:36538041 | PMID:36574265 | PMID:36606322 | PMID:36610398 | PMID:36634849 |
PMID:36811957 | PMID:36966971 | PMID:37075641 | PMID:37076474 | PMID:37112806 | PMID:37667382 | PMID:37689310 | PMID:37827155 | PMID:37837399 | PMID:38220171 | PMID:38245532 | PMID:38334954 |
RAB1B (Homo sapiens - human) |
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Rab1b (Mus musculus - house mouse) |
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Rab1b (Rattus norvegicus - Norway rat) |
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Rab1b (Chinchilla lanigera - long-tailed chinchilla) |
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RAB1B (Pan paniscus - bonobo/pygmy chimpanzee) |
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RAB1B (Canis lupus familiaris - dog) |
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Rab1b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RAB1B (Sus scrofa - pig) |
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RAB1B (Chlorocebus sabaeus - green monkey) |
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Rab1b (Heterocephalus glaber - naked mole-rat) |
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Variants in RAB1B
12 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 | copy number gain | See cases [RCV000053623] | Chr11:66193502..67890770 [GRCh38] Chr11:65960973..67658241 [GRCh37] Chr11:65717549..67414817 [NCBI36] Chr11:11q13.2 |
pathogenic |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 | copy number loss | See cases [RCV000142881] | Chr11:65741431..67705669 [GRCh38] Chr11:65508902..67473140 [GRCh37] Chr11:65265478..67229716 [NCBI36] Chr11:11q13.1-13.2 |
pathogenic |
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3 | copy number gain | See cases [RCV000240374] | Chr11:66024774..67430781 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 | copy number gain | See cases [RCV000511632] | Chr11:64501919..67129258 [GRCh37] Chr11:11q13.1-13.2 |
likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) | copy number gain | not provided [RCV000767601] | Chr11:65138976..67574402 [GRCh37] Chr11:11q13.1-13.2 |
pathogenic |
GRCh37/hg19 11q13.2(chr11:65906060-66086140)x1 | copy number loss | not provided [RCV000683313] | Chr11:65906060..66086140 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NC_000011.9:g.(?_65633902)_(66115026_?)dup | duplication | Cutis laxa, autosomal recessive, type 1B [RCV000798155] | Chr11:65866431..66347555 [GRCh38] Chr11:65633902..66115026 [GRCh37] Chr11:11q13.1-13.2 |
uncertain significance |
NC_000011.9:g.(?_64973914)_(70052579_?)dup | duplication | Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] | Chr11:64973914..70052579 [GRCh37] Chr11:11q13.1-13.3 |
uncertain significance |
NC_000011.9:g.(?_65633902)_(66115026_?)dup | duplication | Autosomal recessive cutis laxa type 1B [RCV001305354] | Chr11:65633902..66115026 [GRCh37] Chr11:11q13.1-13.2 |
uncertain significance |
NC_000011.9:g.(?_59596957)_(68707199_?)dup | duplication | Familial temporal lobe epilepsy 8 [RCV001372442] | Chr11:59596957..68707199 [GRCh37] Chr11:11q12.1-13.3 |
uncertain significance |
GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1 | copy number loss | not provided [RCV001827874] | Chr11:65963737..66581485 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514) | copy number loss | not specified [RCV002052930] | Chr11:64935724..66405514 [GRCh37] Chr11:11q13.1-13.2 |
uncertain significance |
NC_000011.9:g.(?_64522783)_(66283694_?)del | deletion | Bardet-Biedl syndrome [RCV002014493]|Glycogen storage disease, type V [RCV002004587] | Chr11:64522783..66283694 [GRCh37] Chr11:11q13.1-13.2 |
pathogenic |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_030981.3(RAB1B):c.544G>A (p.Glu182Lys) | single nucleotide variant | not specified [RCV004102361] | Chr11:66276176 [GRCh38] Chr11:66043647 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_030981.3(RAB1B):c.326A>G (p.Tyr109Cys) | single nucleotide variant | not specified [RCV004132132] | Chr11:66275850 [GRCh38] Chr11:66043321 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_030981.3(RAB1B):c.295G>A (p.Val99Met) | single nucleotide variant | not specified [RCV004265135] | Chr11:66275819 [GRCh38] Chr11:66043290 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_030981.3(RAB1B):c.523C>T (p.Pro175Ser) | single nucleotide variant | not specified [RCV004281010] | Chr11:66276155 [GRCh38] Chr11:66043626 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_030981.3(RAB1B):c.562A>G (p.Ile188Val) | single nucleotide variant | not specified [RCV004355439] | Chr11:66276194 [GRCh38] Chr11:66043665 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 | copy number gain | not provided [RCV003484842] | Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5 |
pathogenic |
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 | copy number gain | not specified [RCV003986944] | Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3 |
likely pathogenic |
NM_030981.3(RAB1B):c.592G>A (p.Gly198Ser) | single nucleotide variant | not specified [RCV004443038] | Chr11:66276224 [GRCh38] Chr11:66043695 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_030981.3(RAB1B):c.323G>T (p.Arg108Leu) | single nucleotide variant | not specified [RCV004443034] | Chr11:66275847 [GRCh38] Chr11:66043318 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_030981.3(RAB1B):c.482C>T (p.Ala161Val) | single nucleotide variant | not specified [RCV004443035] | Chr11:66276114 [GRCh38] Chr11:66043585 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_030981.3(RAB1B):c.574C>G (p.Pro192Ala) | single nucleotide variant | not specified [RCV004443037] | Chr11:66276206 [GRCh38] Chr11:66043677 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_030981.3(RAB1B):c.164A>G (p.Lys55Arg) | single nucleotide variant | not specified [RCV004443033] | Chr11:66272233 [GRCh38] Chr11:66039704 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_030981.3(RAB1B):c.593G>A (p.Gly198Asp) | single nucleotide variant | not specified [RCV004852122] | Chr11:66276225 [GRCh38] Chr11:66043696 [GRCh37] Chr11:11q13.2 |
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 |
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 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NM_030981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_017018378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF092437 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ245875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK292086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315333 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL136635 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP001107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC028331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC071169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG717501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR533462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U66621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000311481 ⟹ ENSP00000310226 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000527397 ⟹ ENSP00000435195 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_030981 ⟹ NP_112243 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_112243 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAC51196 | (Get FASTA) | NCBI Sequence Viewer |
AAH71169 | (Get FASTA) | NCBI Sequence Viewer | |
AAP97212 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84775 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37733 | (Get FASTA) | NCBI Sequence Viewer | |
CAB66570 | (Get FASTA) | NCBI Sequence Viewer | |
CAC21570 | (Get FASTA) | NCBI Sequence Viewer | |
CAG38493 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000310226 | ||
ENSP00000310226.6 | |||
GenBank Protein | Q9H0U4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_112243 ⟸ NM_030981 |
- UniProtKB: | A8K7S1 (UniProtKB/Swiss-Prot), Q9H0U4 (UniProtKB/Swiss-Prot), Q6FIG4 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000310226 ⟸ ENST00000311481 |
Ensembl Acc Id: | ENSP00000435195 ⟸ ENST00000527397 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9H0U4-F1-model_v2 | AlphaFold | Q9H0U4 | 1-201 | view protein structure |
RGD ID: | 6789288 | ||||||||
Promoter ID: | HG_KWN:13389 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_030981 | ||||||||
Position: |
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RGD ID: | 6810113 | ||||||||
Promoter ID: | HG_ACW:12734 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | RAB1B.DAPR07 | ||||||||
Position: |
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RGD ID: | 7221127 | ||||||||
Promoter ID: | EPDNEW_H16310 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB1B_1 | ||||||||
Description: | RAB1B, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:18370 | AgrOrtholog |
COSMIC | RAB1B | COSMIC |
Ensembl Genes | ENSG00000174903 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000311481 | ENTREZGENE |
ENST00000311481.11 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000174903 | GTEx |
HGNC ID | HGNC:18370 | ENTREZGENE |
Human Proteome Map | RAB1B | Human Proteome Map |
InterPro | P-loop_NTPase | UniProtKB/Swiss-Prot |
Rab | UniProtKB/Swiss-Prot | |
Small_GTP-bd_dom | UniProtKB/Swiss-Prot | |
Small_GTPase | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:81876 | UniProtKB/Swiss-Prot |
NCBI Gene | 81876 | ENTREZGENE |
OMIM | 612565 | OMIM |
PANTHER | RAS-RELATED PROTEIN RAB | UniProtKB/Swiss-Prot |
Pfam | Ras | UniProtKB/Swiss-Prot |
PharmGKB | PA34108 | PharmGKB |
PRINTS | RASTRNSFRMNG | UniProtKB/Swiss-Prot |
PROSITE | RAB | UniProtKB/Swiss-Prot |
SMART | ARF | UniProtKB/Swiss-Prot |
RAB | UniProtKB/Swiss-Prot | |
RAN | UniProtKB/Swiss-Prot | |
RAS | UniProtKB/Swiss-Prot | |
RHO | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot |
UniProt | A8K7S1 | ENTREZGENE |
E9PLD0_HUMAN | UniProtKB/TrEMBL | |
Q6FIG4 | ENTREZGENE, UniProtKB/TrEMBL | |
Q92927_HUMAN | UniProtKB/TrEMBL | |
Q9H0U4 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A8K7S1 | UniProtKB/Swiss-Prot |