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Protein

Guanine nucleotide exchange factor for Rab-3A

Gene

RAB3IL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • Rab guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

  • positive regulation of GTPase activity Source: GOC
  • protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Keywords - Biological processi

Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide exchange factor for Rab-3A
Alternative name(s):
Rab-3A-interacting-like protein 1
Short name:
Rab3A-interacting-like protein 1
Rabin3-like 1
Gene namesi
Name:RAB3IL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:9780. RAB3IL1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34135.

Polymorphism and mutation databases

DMDMi74730489.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 382382Guanine nucleotide exchange factor for Rab-3APRO_0000305295Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei168 – 1681PhosphoserineCombined sources
Modified residuei179 – 1791PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TBN0.
MaxQBiQ8TBN0.
PaxDbiQ8TBN0.
PRIDEiQ8TBN0.

PTM databases

iPTMnetiQ8TBN0.
PhosphoSiteiQ8TBN0.

Expressioni

Gene expression databases

BgeeiQ8TBN0.
CleanExiHS_RAB3IL1.
ExpressionAtlasiQ8TBN0. baseline and differential.
GenevisibleiQ8TBN0. HS.

Organism-specific databases

HPAiHPA039723.

Interactioni

Subunit structurei

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).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC57Q2TAC23EBI-743796,EBI-2808286
KRT40Q6A1623EBI-743796,EBI-10171697
MTUS2Q5JR593EBI-743796,EBI-742948
NOTCH2NLQ7Z3S93EBI-743796,EBI-945833
NUDT18Q6ZVK83EBI-743796,EBI-740486
PSMA3P257883EBI-743796,EBI-348380
RAB3IPQ96QF08EBI-743796,EBI-747844
SATB2Q9UPW63EBI-743796,EBI-8298169
TIGD7Q6NT043EBI-743796,EBI-3916512

Protein-protein interaction databases

BioGridi111804. 28 interactions.
IntActiQ8TBN0. 12 interactions.
MINTiMINT-1434578.
STRINGi9606.ENSP00000378313.

Structurei

Secondary structure

1
382
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi80 – 14667Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4LI0X-ray3.30C/D/E/F73-154[»]
ProteinModelPortaliQ8TBN0.
SMRiQ8TBN0. Positions 80-148, 215-381.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili73 – 16189Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the SEC2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4324. Eukaryota.
ENOG410XPSY. LUCA.
GeneTreeiENSGT00390000009036.
HOGENOMiHOG000220814.
HOVERGENiHBG057034.
InParanoidiQ8TBN0.
KOiK16779.
OMAiDEGHPPP.
OrthoDBiEOG7KSX8Q.
PhylomeDBiQ8TBN0.
TreeFamiTF313748.

Family and domain databases

InterProiIPR009449. Sec2_N.
[Graphical view]
PfamiPF06428. Sec2p. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TBN0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWSGPPQPDQ GLPPPLAAVP VPWKSTDPCQ GHRESPGALV ETSAGEEAQG
60 70 80 90 100
QEGPAAAQLD VLRLRSSSME IREKGSEFLK EELHRAQKEL KLKDEECERL
110 120 130 140 150
SKVREQLEQE LEELTASLFE EAHKMVREAN MKQAASEKQL KEARGKIDML
160 170 180 190 200
QAEVTALKTL VITSTPASPN RELHPQLLSP TKAGPRKGHS RHKSTSSTLC
210 220 230 240 250
PAVCPAAGHT LTPDREGKEV DTILFAEFQA WRESPTLDKT CPFLERVYRE
260 270 280 290 300
DVGPCLDFTM QELSVLVRAA VEDNTLTIEP VASQTLPTVK VAEVDCSSTN
310 320 330 340 350
TCALSGLTRT CRHRIRLGDS KSHYYISPSS RARITAVCNF FTYIRYIQQG
360 370 380
LVRQDAEPMF WEIMRLRKEM SLAKLGFFPQ EA
Length:382
Mass (Da):42,637
Last modified:June 1, 2002 - v1
Checksum:i952C14B47CAEC7F9
GO
Isoform 2 (identifier: Q8TBN0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-4: MWSG → MDSSEEHAGCPARGTCPVFLAMSAGTVRYAPSGLCPVLEGNLREEPWGTDS
     147-219: Missing.

Show »
Length:356
Mass (Da):39,791
Checksum:i355C47F770802237
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491Q → R.
Corresponds to variant rs174477 [ dbSNP | Ensembl ].
VAR_035203
Natural varianti323 – 3231H → Y.
Corresponds to variant rs3815045 [ dbSNP | Ensembl ].
VAR_035204

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 44MWSG → MDSSEEHAGCPARGTCPVFL AMSAGTVRYAPSGLCPVLEG NLREEPWGTDS in isoform 2. 1 PublicationVSP_028344
Alternative sequencei147 – 21973Missing in isoform 2. 1 PublicationVSP_028345Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC022239 mRNA. Translation: AAH22239.1.
BC051820 mRNA. Translation: AAH51820.1.
AF084557 mRNA. Translation: AAF28399.1.
CCDSiCCDS60809.1. [Q8TBN0-2]
CCDS8014.1. [Q8TBN0-1]
RefSeqiNP_001258615.1. NM_001271686.1. [Q8TBN0-2]
NP_037533.2. NM_013401.3. [Q8TBN0-1]
UniGeneiHs.13759.

Genome annotation databases

EnsembliENST00000301773; ENSP00000301773; ENSG00000167994. [Q8TBN0-2]
ENST00000394836; ENSP00000378313; ENSG00000167994. [Q8TBN0-1]
GeneIDi5866.
KEGGihsa:5866.
UCSCiuc001nso.5. human. [Q8TBN0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC022239 mRNA. Translation: AAH22239.1.
BC051820 mRNA. Translation: AAH51820.1.
AF084557 mRNA. Translation: AAF28399.1.
CCDSiCCDS60809.1. [Q8TBN0-2]
CCDS8014.1. [Q8TBN0-1]
RefSeqiNP_001258615.1. NM_001271686.1. [Q8TBN0-2]
NP_037533.2. NM_013401.3. [Q8TBN0-1]
UniGeneiHs.13759.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4LI0X-ray3.30C/D/E/F73-154[»]
ProteinModelPortaliQ8TBN0.
SMRiQ8TBN0. Positions 80-148, 215-381.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111804. 28 interactions.
IntActiQ8TBN0. 12 interactions.
MINTiMINT-1434578.
STRINGi9606.ENSP00000378313.

PTM databases

iPTMnetiQ8TBN0.
PhosphoSiteiQ8TBN0.

Polymorphism and mutation databases

DMDMi74730489.

Proteomic databases

EPDiQ8TBN0.
MaxQBiQ8TBN0.
PaxDbiQ8TBN0.
PRIDEiQ8TBN0.

Protocols and materials databases

DNASUi5866.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000301773; ENSP00000301773; ENSG00000167994. [Q8TBN0-2]
ENST00000394836; ENSP00000378313; ENSG00000167994. [Q8TBN0-1]
GeneIDi5866.
KEGGihsa:5866.
UCSCiuc001nso.5. human. [Q8TBN0-1]

Organism-specific databases

CTDi5866.
GeneCardsiRAB3IL1.
HGNCiHGNC:9780. RAB3IL1.
HPAiHPA039723.
neXtProtiNX_Q8TBN0.
PharmGKBiPA34135.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4324. Eukaryota.
ENOG410XPSY. LUCA.
GeneTreeiENSGT00390000009036.
HOGENOMiHOG000220814.
HOVERGENiHBG057034.
InParanoidiQ8TBN0.
KOiK16779.
OMAiDEGHPPP.
OrthoDBiEOG7KSX8Q.
PhylomeDBiQ8TBN0.
TreeFamiTF313748.

Miscellaneous databases

GenomeRNAii5866.
PROiQ8TBN0.

Gene expression databases

BgeeiQ8TBN0.
CleanExiHS_RAB3IL1.
ExpressionAtlasiQ8TBN0. baseline and differential.
GenevisibleiQ8TBN0. HS.

Family and domain databases

InterProiIPR009449. Sec2_N.
[Graphical view]
PfamiPF06428. Sec2p. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Bone and Colon.
  2. "Genomic characterization of eight novel genes from within the former Best's disease candidate region in 11q12-q13.1."
    Marquardt A., Stoehr H., Passmore L.A., Kraemer F., Rivera A., Weber B.H.F.
    Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 69-382 (ISOFORM 1).
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  4. "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors."
    Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A.
    J. Cell Biol. 191:367-381(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS GUANYL-NUCLEOTIDE EXCHANGE FACTOR.
  5. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiR3GEF_HUMAN
AccessioniPrimary (citable) accession number: Q8TBN0
Secondary accession number(s): Q86V32, Q9P1Q8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: June 1, 2002
Last modified: June 8, 2016
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.