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RAB3IP RAB3A interacting protein [ Homo sapiens (human) ]

Gene ID: 117177, updated on 29-Mar-2020

Summary

Official Symbol
RAB3IPprovided by HGNC
Official Full Name
RAB3A interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:16508
See related
Ensembl:ENSG00000127328 MIM:608686
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
Also known as
RABIN3; RABIN8
Expression
Broad expression in brain (RPKM 6.7), kidney (RPKM 6.6) and 24 other tissues See more
Orthologs

Genomic context

See RAB3IP in Genome Data Viewer
Location:
12q15
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (69738007..69823204)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (70132466..70216984)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369823 Neighboring gene leucine rich repeat containing 10 Neighboring gene bestrophin 3 Neighboring gene uncharacterized LOC101928002 Neighboring gene myelin regulatory factor like Neighboring gene histone PARylation factor 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14660, FLJ22548, MGC71495

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
protein targeting to membrane IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
rab-3A-interacting protein
Names
SSX2 interacting protein
rab3A-interacting protein
rabin-3

NCBI Reference Sequences (RefSeq)

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_001024647.3NP_001019818.1  rab-3A-interacting protein isoform A

    See identical proteins and their annotated locations for NP_001019818.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (A) has multiple differences, which result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant alpha 2. The resulting isoform (A) has a shorter N-terminus, compared to isoform alpha 2. Variants A and B encode the same isoform A.
    Source sequence(s)
    AC025263, AI912718, BC014553, DN912041
    Consensus CDS
    CCDS44942.1
    UniProtKB/Swiss-Prot
    Q96QF0
    Related
    ENSP00000448773.1, ENST00000551641.5
  2. NM_001278402.1NP_001265331.1  rab-3A-interacting protein isoform A

    See identical proteins and their annotated locations for NP_001265331.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (B) has multiple differences, which result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant alpha 2. The resulting isoform (A) has a shorter N-terminus, compared to isoform alpha 2. Variants A and B encode the same isoform A.
    Source sequence(s)
    AC025263, AI912718, AK027671, BC015548, DN912041
    Consensus CDS
    CCDS44942.1
    UniProtKB/Swiss-Prot
    Q96QF0
    Related
    ENSP00000448027.1, ENST00000553099.5
    Conserved Domains (1) summary
    pfam06428
    Location:163
    Sec2p; GDP/GTP exchange factor Sec2p
  3. NM_022456.5NP_071901.2  rab-3A-interacting protein isoform alpha 1

    See identical proteins and their annotated locations for NP_071901.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (alpha 1) has a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant alpha 2. The resulting isoform (alpha 1) has a shorter N-terminus, compared to isoform alpha 2.
    Source sequence(s)
    AC025263, AI912718, AJ312896, DB460944
    Consensus CDS
    CCDS8995.1
    UniProtKB/Swiss-Prot
    Q96QF0
    Related
    ENSP00000247833.7, ENST00000247833.11
    Conserved Domains (2) summary
    pfam06428
    Location:173254
    Sec2p; GDP/GTP exchange factor Sec2p
    cl26472
    Location:104240
    DUF3084; Protein of unknown function (DUF3084)
  4. NM_175623.4NP_783322.1  rab-3A-interacting protein isoform alpha 2

    See identical proteins and their annotated locations for NP_783322.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (alpha 2) encodes the longest isoform (alpha 2).
    Source sequence(s)
    AC025263, AI912718, AJ312897, DA874650
    Consensus CDS
    CCDS8993.1
    UniProtKB/Swiss-Prot
    Q96QF0
    Related
    ENSP00000447300.1, ENST00000550536.5
    Conserved Domains (2) summary
    pfam06428
    Location:189270
    Sec2p; GDP/GTP exchange factor Sec2p
    cl26472
    Location:120256
    DUF3084; Protein of unknown function (DUF3084)
  5. NM_175624.4NP_783323.1  rab-3A-interacting protein isoform beta 1

    See identical proteins and their annotated locations for NP_783323.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (beta 1) has a distinct 5' UTR and multiple coding region differences, compared to variant alpha 2. These differences cause translation initiation at a downstream AUG and a frameshift in the 3' coding region. The resulting isoform (beta 1) is shorter and has a shorter N-terminus and a distinct C-terminus, compared to isoform alpha 2.
    Source sequence(s)
    AC025263, AI912718, AJ312898, DB460944
    Consensus CDS
    CCDS8996.1
    UniProtKB/Swiss-Prot
    Q96QF0
    Related
    ENSP00000419216.2, ENST00000483530.6
    Conserved Domains (2) summary
    pfam06428
    Location:173254
    Sec2p; GDP/GTP exchange factor Sec2p
    cl26472
    Location:104240
    DUF3084; Protein of unknown function (DUF3084)
  6. NM_175625.4NP_783324.1  rab-3A-interacting protein isoform beta 2

    See identical proteins and their annotated locations for NP_783324.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (beta 2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant alpha 2. The resulting isoform (beta 2) is shorter and has a distinct C-terminus, compared to isoform alpha 2.
    Source sequence(s)
    AC025263, AI912718, AJ312899, DA874650
    Consensus CDS
    CCDS41811.1
    UniProtKB/Swiss-Prot
    Q96QF0
    Related
    ENSP00000355381.5, ENST00000362025.9
    Conserved Domains (2) summary
    pfam06428
    Location:189270
    Sec2p; GDP/GTP exchange factor Sec2p
    pfam10267
    Location:102256
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

RNA

  1. NR_103519.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (gamma 1) has an alternate 5' exon and lacks an internal exon in the 3' region, compared to variant alpha 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant alpha 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC025263, AI912718, AJ312900, BC014553, DB460944
  2. NR_103520.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (gamma 2) lacks an internal exon in the 3' region, compared to variant alpha 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant alpha 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC025263, AI912718, AJ312901, BC014553, DA874650

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    69738007..69823204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719226.3XP_006719289.3  rab-3A-interacting protein isoform X1

  2. XM_006719227.3XP_006719290.3  rab-3A-interacting protein isoform X3

  3. XM_017018775.1XP_016874264.1  rab-3A-interacting protein isoform X5

  4. XM_017018774.2XP_016874263.1  rab-3A-interacting protein isoform X4

  5. XM_024448832.1XP_024304600.1  rab-3A-interacting protein isoform X4

  6. XM_017018777.2XP_016874266.1  rab-3A-interacting protein isoform X6

    UniProtKB/Swiss-Prot
    Q96QF0
  7. XM_017018773.1XP_016874262.1  rab-3A-interacting protein isoform X2

    UniProtKB/Swiss-Prot
    Q96QF0
    Conserved Domains (2) summary
    pfam06428
    Location:173254
    Sec2p; GDP/GTP exchange factor Sec2p
    cl26472
    Location:104240
    DUF3084; Protein of unknown function (DUF3084)

RNA

  1. XR_944491.2 RNA Sequence

  2. XR_944490.2 RNA Sequence

  3. XR_944488.2 RNA Sequence

  4. XR_944489.2 RNA Sequence

  5. XR_944487.2 RNA Sequence

  6. XR_944492.2 RNA Sequence

  7. XR_001748572.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175626.1: Suppressed sequence

    Description
    NM_175626.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_175627.1: Suppressed sequence

    Description
    NM_175627.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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