Human Gene RAB3IL1 (ENST00000394836.7_12) from GENCODE V47lift37
  Description: RAB3A interacting protein like 1, transcript variant 1 (from RefSeq NM_013401.4)
Gencode Transcript: ENST00000394836.7_12
Gencode Gene: ENSG00000167994.13_14
Transcript (Including UTRs)
   Position: hg19 chr11:61,664,773-61,685,038 Size: 20,266 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr11:61,665,750-61,684,839 Size: 19,090 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:61,664,773-61,685,038)mRNA (may differ from genome)Protein (382 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: R3GEF_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide exchange factor for Rab-3A; AltName: Full=Rab-3A-interacting-like protein 1; Short=Rab3A-interacting-like protein 1; AltName: Full=Rabin3-like 1;
FUNCTION: Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also activate RAB8A and RAB8B.
SUBUNIT: Interacts with RAB3A and IHPK1 through the coiled-coil domain. This interaction is competitive. IHPK1 kinase activity is not required for this interaction (By similarity).
INTERACTION: Q6ZVK8:NUDT18; NbExp=3; IntAct=EBI-743796, EBI-740486; Q96QF0:RAB3IP; NbExp=3; IntAct=EBI-743796, EBI-747844;
SIMILARITY: Belongs to the SEC2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.77 RPKM in Testis
Total median expression: 494.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -117.70199-0.591 Picture PostScript Text
3' UTR -384.50977-0.394 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009449 - Sec2p

Pfam Domains:
PF06428 - GDP/GTP exchange factor Sec2p

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
144284 - Sec2 N-terminal region

ModBase Predicted Comparative 3D Structure on Q8TBN0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0017112 Rab guanyl-nucleotide exchange factor activity

Biological Process:
GO:0015031 protein transport

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC022239 - Homo sapiens RAB3A interacting protein (rabin3)-like 1, mRNA (cDNA clone MGC:21943 IMAGE:4390573), complete cds.
BC051820 - Homo sapiens RAB3A interacting protein (rabin3)-like 1, mRNA (cDNA clone MGC:60065 IMAGE:5188805), complete cds.
AF084557 - Homo sapiens RAB3A interacting protein-like 1 (RAB3IL1) mRNA, complete cds.
JD500582 - Sequence 481606 from Patent EP1572962.
JD474985 - Sequence 456009 from Patent EP1572962.
JD173113 - Sequence 154137 from Patent EP1572962.
JD544102 - Sequence 525126 from Patent EP1572962.
JD090569 - Sequence 71593 from Patent EP1572962.
JD158676 - Sequence 139700 from Patent EP1572962.
JD320742 - Sequence 301766 from Patent EP1572962.
JD468976 - Sequence 450000 from Patent EP1572962.
JD400613 - Sequence 381637 from Patent EP1572962.
JD460280 - Sequence 441304 from Patent EP1572962.
JD519393 - Sequence 500417 from Patent EP1572962.
JD520038 - Sequence 501062 from Patent EP1572962.
JD200939 - Sequence 181963 from Patent EP1572962.
JD043211 - Sequence 24235 from Patent EP1572962.
JD240634 - Sequence 221658 from Patent EP1572962.
JD162463 - Sequence 143487 from Patent EP1572962.
JD055484 - Sequence 36508 from Patent EP1572962.
JD274081 - Sequence 255105 from Patent EP1572962.
JD397577 - Sequence 378601 from Patent EP1572962.
JD533039 - Sequence 514063 from Patent EP1572962.
JD484785 - Sequence 465809 from Patent EP1572962.
JD489672 - Sequence 470696 from Patent EP1572962.
JD370113 - Sequence 351137 from Patent EP1572962.
JD064025 - Sequence 45049 from Patent EP1572962.
JD355051 - Sequence 336075 from Patent EP1572962.
JD540551 - Sequence 521575 from Patent EP1572962.
JD157956 - Sequence 138980 from Patent EP1572962.
JD098591 - Sequence 79615 from Patent EP1572962.
JD123523 - Sequence 104547 from Patent EP1572962.
JD121645 - Sequence 102669 from Patent EP1572962.
JD067017 - Sequence 48041 from Patent EP1572962.
JD142222 - Sequence 123246 from Patent EP1572962.
DQ891184 - Synthetic construct clone IMAGE:100003814; FLH169937.01X; RZPDo839H1096D RAB3A interacting protein (rabin3)-like 1 (RAB3IL1) gene, encodes complete protein.
DQ894366 - Synthetic construct Homo sapiens clone IMAGE:100008826; FLH169933.01L; RZPDo839H1095D RAB3A interacting protein (rabin3)-like 1 (RAB3IL1) gene, encodes complete protein.
KJ905888 - Synthetic construct Homo sapiens clone ccsbBroadEn_15558 RAB3IL1 gene, encodes complete protein.
KJ891965 - Synthetic construct Homo sapiens clone ccsbBroadEn_01359 RAB3IL1 gene, encodes complete protein.
DQ579046 - Homo sapiens piRNA piR-47158, complete sequence.
JD211055 - Sequence 192079 from Patent EP1572962.
JD401211 - Sequence 382235 from Patent EP1572962.
JD138561 - Sequence 119585 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8TBN0 (Reactome details) participates in the following event(s):

R-HSA-8875318 RAB3 GEFs exchange GTP for GDP on RAB3A
R-HSA-8876190 RAB8 GEFs exchange GTP for GDP on RAB8
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-9007101 Rab regulation of trafficking
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000394836.1, ENST00000394836.2, ENST00000394836.3, ENST00000394836.4, ENST00000394836.5, ENST00000394836.6, NM_013401, Q86V32, Q8TBN0, Q9P1Q8, R3GEF_HUMAN, uc318wyh.1, uc318wyh.2
UCSC ID: ENST00000394836.7_12
RefSeq Accession: NM_013401.4
Protein: Q8TBN0 (aka R3GEF_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.