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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RABIF Gene

protein-coding   GIFtS: 50
GCID: GC01M202848

RAB interacting factor


(Previous symbol: RASGRF3)
 Explore 4 diseases affiliated with
RABIF via our new
 Human Malady Compendium 
Biological research products
for RABIF
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RAB Interacting Factor1 2     Mss41
RASGRF31 2 3     Guanine Nucleotide Exchange Factor MSS42
MSS42 3 5     Mammalian Suppressor Of SEC42
Rab-Interacting Factor2 3     Ras-Specific Guanine-Releasing Factor 32
RASGFR32 5     

External Ids:    HGNC: 97971   Entrez Gene: 58772   Ensembl: ENSG000001831557   OMIM: 6034175   UniProtKB: P472243   

Export aliases for RABIF gene to outside databases

Previous GC identifers: GC01M200532 GC01M198278 GC01M199314 GC01M200136 GC01M199579 GC01M201114 GC01M174013


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RABIF:
This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the
regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser
extent in YPT1 and RAB3A, and may play a general role in vesicular transport. (provided by RefSeq, Oct 2011)

UniProtKB/Swiss-Prot: MSS4_HUMAN, P47224
Function: Guanine-nucleotide-releasing protein that acts on members of the SEC4/YPT1/RAB subfamily. Stimulates GDP
release from both YPT1 and RAB3A, but is less active on these proteins than on the SEC4 protein. Might play a general
role in vesicular transport

Gene Wiki entry for RABIF


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RABIF gene promoter:
         AML1a   FOXD3   HNF-3beta   C/EBPalpha   CHOP-10   POU2F1   E2F   POU2F1a   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRABIF promoter sequence
   Search SABiosciences Chromatin IP Primers for RABIF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RABIF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

RABIF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RABIF gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M202848:  view genomic region     (about GC identifiers)

Start:
202,848,085 bp from pter      End:
202,858,263 bp from pter
Size:
10,179 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MSS4_HUMAN, P47224 (See protein sequence)
Recommended Name: Guanine nucleotide exchange factor MSS4  
Size: 123 amino acids; 13839 Da
Subunit: Interacts with RAB8A
2 PDB 3D structures from and Proteopedia for RABIF:
1FWQ (3D)        2FU5 (3D)    
Secondary accessions: B2R4P4 Q92992

Explore the universe of human proteins at neXtProt for RABIF: NX_P47224

RABIF Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_002862.2  
ENSEMBL proteins: 
 ENSP00000356231  

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RABIF for domains           About GeneDecksing

3 InterPro domains/families:
 IPR011323 Mss4/transl-control_tumor
 IPR007515 Mss4
 IPR011057 Mss4-like

Graphical View of Domain Structure for InterPro Entry P47224

ProtoNet protein and cluster: P47224

1 Blocks protein family: IPB007515 Mss4

UniProtKB/Swiss-Prot: MSS4_HUMAN, P47224
Similarity: Belongs to the DSS4/MSS4 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     UniProtKB/Swiss-Prot: MSS4_HUMAN, P47224
Function: Guanine-nucleotide-releasing protein that acts on members of the SEC4/YPT1/RAB subfamily. Stimulates GDP
release from both YPT1 and RAB3A, but is less active on these proteins than on the SEC4 protein. Might play a general
role in vesicular transport

     Genatlas biochemistry entry for RABIF:
guanine nucleotide releasing (exchange) factor,14kDa,specific for Sec4/Ypt/RAB family,RAS superfamily,of GTP binding
proteins,involved in the regulation of intracellular vesicular transport,expressed in pancreatic cancer

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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005085guanyl-nucleotide exchange factor activity NAS7619808
GO:0008270zinc ion binding IDA7619808


RABIF for ontologies           About GeneDecksing



(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RABIF

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/21 Interacting proteins for RABIF (P472242, 3 ENSP000003562314) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
InteractantInteraction Details
GeneCardExternal ID(s)
CCBL2Q6YP212, 3, ENSP000002605084MINT-64701 I2D: score=5 STRING: ENSP00000260508
UTP14AQ9BVJ62, 3MINT-63764 I2D: score=5 
RAB8AP610062, 3, ENSP000003009354MINT-2837552 MINT-2837574 I2D: score=2 STRING: ENSP00000300935
LAMTOR5O435042, 3, ENSP000002566444MINT-63763 I2D: score=5 STRING: ENSP00000256644
RAB15P591903, ENSP000002675124I2D: score=3 STRING: ENSP00000267512
About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006944cellular membrane fusion TAS9441742
GO:0007264small GTPase mediated signal transduction IEA--
GO:0015031protein transport IEA--


RABIF for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RABIF
Search CenterWatch for drugs/clinical trials and news about RABIF / MSS4 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RABIF gene: 
NM_002871.4  

Unigene Cluster for RABIF:

RAB interacting factor
Hs.90875  [show with all ESTs]
Unigene Representative Sequence: NM_002871
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000367262(uc001gyl.3)

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hsa-miR-1271 hsa-miR-578 hsa-miR-373* hsa-miR-570 hsa-miR-3150a-3p hsa-miR-33a* hsa-miR-182 hsa-miR-544
SwitchGear 3'UTR luciferase reporter plasmidRABIF 3' UTR sequence
Inhib. RNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RABIF

Additional cDNA sequence: 

AK223538.1 AK311900.1 BC018488.1 BC037392.1 BT007133.1 S78873.1 U74324.1 

4 DOTS entries:

DT.454350  DT.100748395  DT.87011738  DT.40265072 

24/103 AceView cDNA sequences (see all 103):

CA429153 U74324 CR593497 BQ219822 AW511523 BU502612 F04513 BQ232014 
BU176130 BU196764 BM913014 BM915651 BQ935588 AI911231 CA447173 F04594 
BE395980 AW005793 BG180289 NM_002871 AI419298 F08368 N36134 BT007133 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RABIF expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTAACTGAG

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See RABIF Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RABIF

SOURCE GeneReport for Unigene cluster: Hs.90875

UniProtKB/Swiss-Prot: MSS4_HUMAN, P47224
Tissue specificity: Ubiquitous

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RABIF gene from 7/20 species (see all 20)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Rabif1 , 5 RAB interacting factor1, 5 91.87(n)1
93.5(a)1
  1 (58.24 cM)5
987101  NM_145510.11  NP_663485.11 
 1344946605 
chicken
(Gallus gallus)
Aves RABIF1 RAB interacting factor 74.27(n)
74.56(a)
  421170  XM_419250.3  XP_419250.3 
lizard
(Anolis carolinensis)
Reptilia RABIF6
--
73(a)
1 ↔ 1
4(133731091-133732999)
African clawed frog
(Xenopus laevis)
Amphibia CD253433.12   -- 74.65(n)    CD253433.1 
zebrafish
(Danio rerio)
Actinopterygii wufc54e042 wufc54e04 78.87(n)   325079  AI877866.1 
fruit fly
(Drosophila melanogaster)
Insecta CG77871 CG7787 52.96(n)
41.12(a)
  34142  NM_135365.2  NP_609209.2 
worm
(Caenorhabditis elegans)
Secernentea ZK970.86
mdt-96
--
Putative guanine nucleotide exchange factor MSS4 h...
25(a)
23(a)
1 ↔ 1
possible ortholog
II(10309577-10310096)
IV(13386270-13387337)


ENSEMBL Gene Tree for RABIF (if available)
TreeFam Gene Tree for RABIF (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/257 NCBI SNPs in RABIF are shown (see all 257    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1808886221,2
--202847044(+) GCACCA/GATGTC 1 -- ds50010--------
rs1505609911,2
--202847091(+) CCTGGA/TTACAT 1 -- ds50010--------
rs1857770221,2
--202847263(+) GTAATC/TGGAGG 1 -- ds50010--------
rs1122762331,2
--202847297(+) GTTTCC/TTACAC 1 -- ds50011Minor allele frequency- T:0.50CSA 2
rs1901488481,2
--202847392(+) AGGCCC/TCATCC 1 -- ds50010--------
rs1460988021,2
--202847667(+) CAGAAA/GTCCTC 1 -- ut310--------
rs791892121,2
C,F,--202847688(+) AGTTAC/TATGTG 1 -- ut311Minor allele frequency- T:0.03EA 120
rs67031381,2
C,F,H,--202847719(+) TGACAA/GTTTGT 1 -- ut3121Minor allele frequency- N:0.00NS EA NA WA 2552
rs1824227561,2
--202847730(+) GAAATA/GTCAGT 1 -- ut310--------
rs1400935021,2
--202847827(+) TCTCCC/GCAATA 1 -- ut310--------

HapMap Linkage Disequilibrium report for RABIF (202848085 - 202858263 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for RABIF: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RABIF for disorders           About GeneDecksing

OMIM gene information: 603417    OMIM disorders: --

4 diseases for RABIF:    About MalaCards
essential hypertension    hypertension    pancreatic cancer    pancreatitis

Human Genome Epidemiology (HuGE) Navigator: RABIF (1 document)

Export disorders for RABIF gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for RABIF gene, integrated from 9 sources (see all 26):
(articles sorted by number of sources associating them with RABIF)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Cloning of novel transcripts of the human guanine-nucleotide-exchange factor Mss4: in situ chromosomal mapping and expression in pancreatic cancer. (PubMed id 9441742)1, 2, 3, 9 Mueller-Pillasch F.... Gress T.M. (1997)
  2. Cloning, Zn2+ binding, and structural characterization of the guanine nucleotide exchange factor human Mss4. (PubMed id 7619808)1, 2, 3, 9 Yu H. and Schreiber S.L. (1995)
  3. Structure of guanine-nucleotide-exchange factor human Mss4 and identification of its Rab-interacting surface. (PubMed id 7651540)1, 2, 9 Yu H. and Schreiber S.L. (1995)
  4. Nucleotide exchange via local protein unfolding--stru cture of Rab8 in complex with MSS4. (PubMed id 16541104)1, 2 Itzen A....Rak A. (2006)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  6. Mss4 protein is a regulator of stress response and apo ptosis. (PubMed id 22495352)1 Walter B.M....Wixler V. (2012)
  7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
  8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
  9. Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)
  10. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1 Ehret G.B....Chakravarti A. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 5877 HGNC: 9797 AceView: RABIF Ensembl:ENSG00000183155 euGenes: HUgn5877
ECgene: RABIF H-InvDB: RABIF

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for RABIF Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for RABIF gene:
Search GeneIP for patents involving RABIF

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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