Q8TBN0 (R3GEF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

RAB3IL1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	382 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Guanine nucleotide exchange factor (GEF) for Rab3A, a GTPase that regulates synaptic vesicle exocytosis By similarity.
Subunit structure	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.
Sequence similarities	Belongs to the SEC2 family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Molecular function	Guanine-nucleotide releasing factor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NUDT18	Q6ZVK8	3	EBI-743796,EBI-740486
RAB3IP	Q96QF0	3	EBI-743796,EBI-747844

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TBN0-1)

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.

Isoform 2 (identifier: Q8TBN0-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 382	382	Guanine nucleotide exchange factor for Rab-3A		PRO_0000305295
Regions
	Coiled coil	73 – 161	89	Potential
Natural variations
	Alternative sequence	1 – 4	4	MWSG → MDSSEEHAGCPARGTCPVFL AMSAGTVRYAPSGLCPVLEG NLREEPWGTDS in isoform 2.		VSP_028344
	Alternative sequence	147 – 219	73	Missing in isoform 2.		VSP_028345
	Natural variant	49	1	Q → R. Corresponds to variant rs174477 [ dbSNP | Ensembl ].		VAR_035203
	Natural variant	323	1	H → Y. Corresponds to variant rs3815045 [ dbSNP | Ensembl ].		VAR_035204

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: 952C14B47CAEC7F9	FASTA	382	42,637
	10 20 30 40 50 60 MWSGPPQPDQ GLPPPLAAVP VPWKSTDPCQ GHRESPGALV ETSAGEEAQG QEGPAAAQLD 70 80 90 100 110 120 VLRLRSSSME IREKGSEFLK EELHRAQKEL KLKDEECERL SKVREQLEQE LEELTASLFE 130 140 150 160 170 180 EAHKMVREAN MKQAASEKQL KEARGKIDML QAEVTALKTL VITSTPASPN RELHPQLLSP 190 200 210 220 230 240 TKAGPRKGHS RHKSTSSTLC PAVCPAAGHT LTPDREGKEV DTILFAEFQA WRESPTLDKT 250 260 270 280 290 300 CPFLERVYRE DVGPCLDFTM QELSVLVRAA VEDNTLTIEP VASQTLPTVK VAEVDCSSTN 310 320 330 340 350 360 TCALSGLTRT CRHRIRLGDS KSHYYISPSS RARITAVCNF FTYIRYIQQG LVRQDAEPMF 370 380 WEIMRLRKEM SLAKLGFFPQ EA
	Isoform 2 [UniParc]. Checksum: 355C47F770802237	FASTA	356	39,791
	10 20 30 40 50 60 MDSSEEHAGC PARGTCPVFL AMSAGTVRYA PSGLCPVLEG NLREEPWGTD SPPQPDQGLP 70 80 90 100 110 120 PPLAAVPVPW KSTDPCQGHR ESPGALVETS AGEEAQGQEG PAAAQLDVLR LRSSSMEIRE 130 140 150 160 170 180 KGSEFLKEEL HRAQKELKLK DEECERLSKV REQLEQELEE LTASLFEEAH KMVREANMKQ 190 200 210 220 230 240 AASEKQLKEA RGKVDTILFA EFQAWRESPT LDKTCPFLER VYREDVGPCL DFTMQELSVL 250 260 270 280 290 300 VRAAVEDNTL TIEPVASQTL PTVKVAEVDC SSTNTCALSG LTRTCRHRIR LGDSKSHYYI 310 320 330 340 350 SPSSRARITA VCNFFTYIRY IQQGLVRQDA EPMFWEIMRL RKEMSLAKLG FFPQEA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 15489334] [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).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	BC022239 mRNA. Translation: AAH22239.1. BC051820 mRNA. Translation: AAH51820.1. AF084557 mRNA. Translation: AAF28399.1.
IPI	IPI00328884. IPI00384251.
RefSeq	NP_037533.2. NM_013401.2.
UniGene	Hs.13759.
3D structure databases
ProteinModelPortal	Q8TBN0.
SMR	Q8TBN0. Positions 18-164.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TBN0. 6 interactions.
MINT	MINT-1434578.
STRING	Q8TBN0.
PTM databases
PhosphoSite	Q8TBN0.
Polymorphism databases
DMDM	74730489.
Proteomic databases
PRIDE	Q8TBN0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000335219; ENSP00000334416; ENSG00000167994.
GeneID	5866.
KEGG	hsa:5866.
UCSC	uc001nso.1. human. uc001nsp.1. human.
Organism-specific databases
CTD	5866.
GeneCards	GC11M061664.
HGNC	HGNC:9780. RAB3IL1.
HPA	HPA039723.
neXtProt	NX_Q8TBN0.
PharmGKB	PA34135.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10367.
GeneTree	ENSGT00390000009036.
HOVERGEN	HBG057034.
PhylomeDB	Q8TBN0.
Gene expression databases
ArrayExpress	Q8TBN0.
Bgee	Q8TBN0.
CleanEx	HS_RAB3IL1.
Genevestigator	Q8TBN0.
Family and domain databases
InterPro	IPR009449. Sec2p. [Graphical view]
Pfam	PF06428. Sec2p. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	22782.

Entry information

Entry name

R3GEF_HUMAN

Accession

Primary (citable) accession number: Q8TBN0
Secondary accession number(s): Q86V32, Q9P1Q8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	June 1, 2002
Last modified:	January 25, 2012
This is version 66 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.