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    ERC1 ELKS/RAB6-interacting/CAST family member 1 [ Homo sapiens ]

    Gene ID: 23085, updated on 11-May-2012

    Summary

    Official Symbol
    ERC1provided by HGNC
    Official Full Name
    ELKS/RAB6-interacting/CAST family member 1provided by HGNC
    Primary source
    HGNC:17072
    See related
    Ensembl:ENSG00000082805; HPRD:06181; MIM:607127; Vega:OTTHUMG00000130138
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ELKS; Cast2; RAB6IP2; FLJ31750; KIAA1081; MGC12974
    Summary
    The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Annotation information
    Annotation category: partial on reference assembly

    Genomic context

    Location :
    12p13.3
    Sequence :
    Chromosome: 12; NC_000012.11 (1100404..1605099)
    See ERC1 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100130219 Neighboring gene RAD52 homolog (S. cerevisiae) Neighboring gene 5-hydroxytryptamine (serotonin) receptor 1D pseudogene Neighboring gene uncharacterized LOC100292680 Neighboring gene F-box and leucine-rich repeat protein 14

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_055879.1 NP_065390.1 NFKBIA    BIND  PubMed ELKS interacts with I-kappa-B-alpha. 
    Q8IUD2 Q8IUD2 ERC1    HPRD  PubMed  
    Q8IUD2 Q13136 PPFIA1    HPRD  PubMed  
    Q8IUD2 P20340 RAB6A    HPRD  PubMed  
    Q8IUD2 Q9NRW1 RAB6B    HPRD  PubMed  
    Q8IUD2 Q86UR5 RIMS1    HPRD  PubMed  
    Q8IUD2 P61981 YWHAG    HPRD  PubMed  
    BioGRID:116714 BioGRID:109767 IKBKB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:116714 BioGRID:114089 IKBKG    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:116714 BioGRID:123873 KBTBD7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116714 BioGRID:112748 MAP3K7    BioGRID  PubMed Affinity Capture-Western 
    NP_002860.2 RAB6A    BIND  PubMed Rab6A (Rab6A') interacts with an unspecified isoform of RAB6IP2. This interaction was modeled on a demonstrated interaction between RAB6A' from an unspecified species and mouse RAB6IP2. 
    BioGRID:116714 BioGRID:111808 RAB6A    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:116714 BioGRID:119610 RAB6B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:116714 BioGRID:116472 TWF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116714 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:116714 BioGRID:106828 XIAP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:116714 BioGRID:113364 YWHAG    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    Rab GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    leucine zipper domain binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    I-kappaB phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    multicellular organismal development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of anti-apoptosis TAS
    Traceable Author Statement
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-dependent NAS
    Non-traceable Author Statement
    more info
    PubMed 
    retrograde transport, endosome to Golgi IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    IkappaB kinase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    presynaptic membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    ELKS/Rab6-interacting/CAST family member 1
    Names
    ELKS/Rab6-interacting/CAST family member 1
    RAB6 interacting protein 2
    Rab6-interacting protein 2

    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_178039.2NP_829883.1  ELKS/Rab6-interacting/CAST family member 1 isoform delta

      Status: REVIEWED

      Description
      Transcript Variant: This variant (delta) lacks an alternate in-frame exon in the coding region, compared to variant epsilon, resulting in a shorter isoform (delta), compared to isoform epsilon.
      Source sequence(s)
      AB053470, AC004671, AC004803, BM984956
      Consensus CDS
      CCDS53732.1
      UniProtKB/Swiss-Prot
      Q8IUD2
      Related
      ENSP00000438546, OTTHUMP00000160633, ENST00000543086, OTTHUMT00000252446
      Conserved Domains (2) summary
      pfam10174
      Location:154954
      Blast Score: 1397
      Cast; RIM-binding protein of the cytomatrix active zone
      pfam09457
      Location:10401080
      Blast Score: 97
      RBD-FIP; FIP domain
    2. NM_178040.2NP_829884.1  ELKS/Rab6-interacting/CAST family member 1 isoform epsilon

      Status: REVIEWED

      Description
      Transcript Variant: This variant (epsilon) encodes the longest isoform (epsilon).
      Source sequence(s)
      AB053471, AC004671, AC004803, BC132782, BM984956
      Consensus CDS
      CCDS8508.1
      UniProtKB/Swiss-Prot
      Q8IUD2
      Related
      ENSP00000354158, OTTHUMP00000238060, ENST00000360905, OTTHUMT00000398382
      Conserved Domains (2) summary
      pfam10174
      Location:154982
      Blast Score: 1339
      Cast; RIM-binding protein of the cytomatrix active zone
      pfam09457
      Location:10681108
      Blast Score: 97
      RBD-FIP; FIP domain

    RNA

    1. NR_027946.1 RNA Sequence

      Description
      Transcript Variant: This variant (alpha) uses an alternative 5' splice site, lacks two exons, and contains two additional exons, compared to variant epsilon. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant epsilon, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB015617, AC004671, AC004803, BM984956
    2. NR_027948.1 RNA Sequence

      Description
      Transcript Variant: This variant (beta) uses an alternative 5' splice site, lacks one exon, and contains two additional exons, compared to variant epsilon. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant epsilon, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB053468, AC004671, AC004803, BM984956
    3. NR_027949.1 RNA Sequence

      Description
      Transcript Variant: This variant (gamma) lacks five exons and contains two additional exons, compared to variant epsilon. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant epsilon, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB053469, AC004671, AC004803, BM984956

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      1100404..1605099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      952225..1457980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004671.1 (5133..54817) None
    genomic AC004672.1 (1..85319) None
    genomic AC004802.1 None
    genomic AC004803.11 (112076..154368) None
    genomic AC004804.1 (1..108531) None
    genomic AC006561.8 None
    genomic AC092469.10 (2000..104394) None
    genomic CH471116.2 EAW88932.1
      EAW88933.1
      EAW88934.1
      EAW88935.1
      EAW88936.1
      EAW88937.1
      EAW88938.1
      EAW88939.1
      EAW88940.1
    genomic X58046.1 None
    mRNA AB015617.1 BAA88763.1
    mRNA AB029004.2 BAA83033.2
    mRNA AB053468.1 BAC54107.1
    mRNA AB053469.1 BAC54108.1
    mRNA AB053470.1 BAC54109.1
    mRNA AB053471.1 BAC54110.1
    mRNA AK000148.1 BAA90975.1
    mRNA AK056312.1 None
    mRNA AK091577.1 None
    mRNA AK092201.1 BAC03827.1
    mRNA AK097177.1 None
    mRNA AK294351.1 BAG57618.1
    mRNA AK309992.1 None
    mRNA BC005065.1 None
    mRNA BC037377.1 None
    mRNA BC068006.1 AAH68006.1
    mRNA BC073885.1 None
    mRNA BC132782.1 AAI32783.1
    mRNA BC132784.1 AAI32785.1
    mRNA BC144287.1 None
    mRNA BC150248.1 AAI50249.1
    mRNA BM984956.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUD2.1 GenPept UniProtKB/Swiss-Prot:Q8IUD2

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