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RIN3 Ras and Rab interactor 3 [ Homo sapiens (human) ]

Gene ID: 79890, updated on 12-May-2016
Official Symbol
RIN3provided by HGNC
Official Full Name
Ras and Rab interactor 3provided by HGNC
Primary source
HGNC:HGNC:18751
See related
Ensembl:ENSG00000100599 HPRD:11494; MIM:610223; Vega:OTTHUMG00000171198
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Orthologs
Location:
14q32.12
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (92513781..92688994)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92980125..93155339)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370627 Neighboring gene solute carrier family 24 member 4 Neighboring gene spidroin-1-like Neighboring gene uncharacterized LOC105370628 Neighboring gene legumain Neighboring gene golgin A5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
NHGRI GWA Catalog
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
NHGRI GWA Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.
NHGRI GWA Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
NHGRI GWA Catalog
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
NHGRI GWA Catalog
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ11700, FLJ22439, DKFZp762H1613

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Rab guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endocytosis NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic, membrane-bounded vesicle IEA
Inferred from Electronic Annotation
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
ras and Rab interactor 3
Names
RAB5 interacting protein 3
ras interaction/interference protein 3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001319987.1NP_001306916.1  ras and Rab interactor 3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB081753, AK026092, AK128338, BC032614
    UniProtKB/Swiss-Prot
    Q8TB24
    UniProtKB/TrEMBL
    Q6ZRC2
    Conserved Domains (4) summary
    pfam02204
    Location:665767
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl15255
    Location:978
    SH2; Src homology 2 (SH2) domain
    TIGR03483
    Location:240339
    FtsZ_alphas_C; cell division protein FtsZ, alphaProteobacterial C-terminal extension
    cl00155
    Location:807886
    UBQ; Ubiquitin-like proteins
  2. NM_024832.4NP_079108.3  ras and Rab interactor 3 isoform 1

    See identical proteins and their annotated locations for NP_079108.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB081753, AK026092, BC025248, BC070062, BX248258, DR003779
    Consensus CDS
    CCDS32144.1
    UniProtKB/Swiss-Prot
    Q8TB24
    UniProtKB/TrEMBL
    Q6NSK7, Q86U22
    Related
    ENSP00000216487, OTTHUMP00000245412, ENST00000216487, OTTHUMT00000412269
    Conserved Domains (4) summary
    cd10395
    Location:52153
    SH2_RIN3; Src homology 2 (SH2) domain found in Ras and Rab interactor 3 (RIN3)-like proteins
    pfam02204
    Location:740842
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    TIGR03483
    Location:315414
    FtsZ_alphas_C; cell division protein FtsZ, alphaProteobacterial C-terminal extension
    cl00155
    Location:882961
    UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    92513781..92688994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537165.1XP_011535467.1  

    Conserved Domains (3) summary
    pfam02204
    Location:403505
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam05956
    Location:24256
    APC_basic; APC basic domain
    cl00155
    Location:545624
    UBQ; Ubiquitin-like proteins
  2. XM_011537164.1XP_011535466.1  

    Conserved Domains (4) summary
    pfam02204
    Location:664766
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl15255
    Location:877
    SH2; Src homology 2 (SH2) domain
    TIGR03483
    Location:239338
    FtsZ_alphas_C; cell division protein FtsZ, alphaProteobacterial C-terminal extension
    cl00155
    Location:806885
    UBQ; Ubiquitin-like proteins
  3. XM_011537163.1XP_011535465.1  

    Conserved Domains (4) summary
    pfam02204
    Location:665767
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl15255
    Location:978
    SH2; Src homology 2 (SH2) domain
    TIGR03483
    Location:240339
    FtsZ_alphas_C; cell division protein FtsZ, alphaProteobacterial C-terminal extension
    cl00155
    Location:807886
    UBQ; Ubiquitin-like proteins

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    92918607..93093630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)