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Protein

Guanine nucleotide exchange factor for Rab-3A

Gene

RAB3IL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionGuanine-nucleotide releasing factor
Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

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

EuPathDBiHostDB:ENSG00000167994.11
HGNCiHGNC:9780 RAB3IL1
neXtProtiNX_Q8TBN0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi5866
OpenTargetsiENSG00000167994
PharmGKBiPA34135

Polymorphism and mutation databases

DMDMi74730489

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003052951 – 382Guanine nucleotide exchange factor for Rab-3AAdd BLAST382

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei168PhosphoserineCombined sources1
Modified residuei179PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TBN0
MaxQBiQ8TBN0
PaxDbiQ8TBN0
PeptideAtlasiQ8TBN0
PRIDEiQ8TBN0
ProteomicsDBi74033
74034 [Q8TBN0-2]

PTM databases

iPTMnetiQ8TBN0
PhosphoSitePlusiQ8TBN0

Expressioni

Gene expression databases

BgeeiENSG00000167994 Expressed in 202 organ(s), highest expression level in testis
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111804, 37 interactors
IntActiQ8TBN0, 24 interactors
STRINGi9606.ENSP00000378313

Structurei

Secondary structure

1382
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8TBN0
SMRiQ8TBN0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili73 – 161Sequence analysisAdd BLAST89

Sequence similaritiesi

Belongs to the SEC2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4324 Eukaryota
ENOG410XPSY LUCA
GeneTreeiENSGT00390000009036
HOGENOMiHOG000220814
HOVERGENiHBG057034
InParanoidiQ8TBN0
KOiK16779
OMAiHLRHKST
OrthoDBiEOG091G04MY
PhylomeDBiQ8TBN0
TreeFamiTF313748

Family and domain databases

InterProiView protein in InterPro
IPR009449 Sec2_N
PfamiView protein in Pfam
PF06428 Sec2p, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PK89E9PK89_HUMAN
Guanine nucleotide exchange factor ...
RAB3IL1
263Annotation score:
H0YD19H0YD19_HUMAN
Guanine nucleotide exchange factor ...
RAB3IL1
65Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03520349Q → R. Corresponds to variant dbSNP:rs174477Ensembl.1
Natural variantiVAR_035204323H → Y. Corresponds to variant dbSNP:rs3815045Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0283441 – 4MWSG → MDSSEEHAGCPARGTCPVFL AMSAGTVRYAPSGLCPVLEG NLREEPWGTDS in isoform 2. 1 Publication4
Alternative sequenceiVSP_028345147 – 219Missing in isoform 2. 1 PublicationAdd BLAST73

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

Similar proteinsi

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
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4LI0X-ray3.30C/D/E/F73-154[»]
ProteinModelPortaliQ8TBN0
SMRiQ8TBN0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111804, 37 interactors
IntActiQ8TBN0, 24 interactors
STRINGi9606.ENSP00000378313

PTM databases

iPTMnetiQ8TBN0
PhosphoSitePlusiQ8TBN0

Polymorphism and mutation databases

DMDMi74730489

Proteomic databases

EPDiQ8TBN0
MaxQBiQ8TBN0
PaxDbiQ8TBN0
PeptideAtlasiQ8TBN0
PRIDEiQ8TBN0
ProteomicsDBi74033
74034 [Q8TBN0-2]

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
DisGeNETi5866
EuPathDBiHostDB:ENSG00000167994.11
GeneCardsiRAB3IL1
HGNCiHGNC:9780 RAB3IL1
HPAiHPA039723
neXtProtiNX_Q8TBN0
OpenTargetsiENSG00000167994
PharmGKBiPA34135
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4324 Eukaryota
ENOG410XPSY LUCA
GeneTreeiENSGT00390000009036
HOGENOMiHOG000220814
HOVERGENiHBG057034
InParanoidiQ8TBN0
KOiK16779
OMAiHLRHKST
OrthoDBiEOG091G04MY
PhylomeDBiQ8TBN0
TreeFamiTF313748

Enzyme and pathway databases

ReactomeiR-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

ChiTaRSiRAB3IL1 human
GenomeRNAii5866
PROiPR:Q8TBN0

Gene expression databases

BgeeiENSG00000167994 Expressed in 202 organ(s), highest expression level in testis
CleanExiHS_RAB3IL1
ExpressionAtlasiQ8TBN0 baseline and differential
GenevisibleiQ8TBN0 HS

Family and domain databases

InterProiView protein in InterPro
IPR009449 Sec2_N
PfamiView protein in Pfam
PF06428 Sec2p, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiR3GEF_HUMAN
AccessioniPrimary (citable) accession number: Q8TBN0
Secondary accession number(s): Q86V32, Q9P1Q8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: June 1, 2002
Last modified: November 7, 2018
This is version 124 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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