Format

Send to:

Choose Destination
    • Showing Current items.

    EVI5 ecotropic viral integration site 5 [ Homo sapiens (human) ]

    Gene ID: 7813, updated on 15-Jun-2019

    Summary

    Official Symbol
    EVI5provided by HGNC
    Official Full Name
    ecotropic viral integration site 5provided by HGNC
    Primary source
    HGNC:HGNC:3501
    See related
    Ensembl:ENSG00000067208 MIM:602942
    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
    NB4S; EVI-5
    Expression
    Ubiquitous expression in testis (RPKM 3.8), placenta (RPKM 3.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See EVI5 in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (92508696..92792413, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (92974253..93257961, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene glomulin, FKBP associated protein Neighboring gene RNA, 7SL, cytoplasmic 824, pseudogene Neighboring gene growth factor independent 1 transcriptional repressor Neighboring gene succinate dehydrogenase assembly factor 3, mitochondrial pseudogene Neighboring gene high mobility group box 3 pseudogene 9 Neighboring gene zinc finger AN1-type containing 1 pseudogene Neighboring gene RNA, U4 small nuclear 59, pseudogene Neighboring gene cyclin J pseudogene 2 Neighboring gene small nucleolar RNA, C/D box 21 Neighboring gene small nucleolar RNA, H/ACA box 66 Neighboring gene divergent protein kinase domain 1A Neighboring gene ribosomal protein L5

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rab GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Rab GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    spindle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ecotropic viral integration site 5 protein homolog
    Names
    dJ846D11.1 (ecotropic viral integration site 5)
    neuroblastoma stage 4S gene protein

    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_001308248.1NP_001295177.1  ecotropic viral integration site 5 protein homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) enodes isoform 1.
      Source sequence(s)
      AA725529, AB209513, AB449875, AC104332, AC104456, AF008915, BP282704
      Consensus CDS
      CCDS76179.1
      UniProtKB/Swiss-Prot
      O60447
      UniProtKB/TrEMBL
      Q59FE7
      Related
      ENSP00000440826.2, ENST00000540033.2
      Conserved Domains (3) summary
      smart00164
      Location:160368
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam07960
      Location:511606
      CBP4; CBP4
      cl11555
      Location:464504
      DUF1129; Protein of unknown function (DUF1129)
    2. NM_001350197.2NP_001337126.1  ecotropic viral integration site 5 protein homolog isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, uses a downstream start codon, and contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, but contains an alternate internal region, compared to isoform 1.
      Source sequence(s)
      AA725529, AB209513, AB449875, AC104332, AC104456, BM835541, BP282704, BX369930, BX378682, CN334472
      Conserved Domains (2) summary
      smart00164
      Location:116324
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl25732
      Location:349693
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001350198.2NP_001337127.1  ecotropic viral integration site 5 protein homolog isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, uses a downstream start codon, contains an alternate in-frame exon in the central coding region and an alternate exon in the 3' coding region, which results in a frameshift, a novel 3' coding region and a longer 3' UTR, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, contains an alternate internal region, and contains a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA725529, AB209513, AB449875, AC104332, AC104456, BM835541, BP282704, BX378682, CN334472
      Conserved Domains (2) summary
      smart00164
      Location:116324
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl25732
      Location:349693
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_005665.6NP_005656.4  ecotropic viral integration site 5 protein homolog isoform 2

      See identical proteins and their annotated locations for NP_005656.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. It encodes isoform 2 which has the same N- and C-termini, but is shorter than isoform 1.
      Source sequence(s)
      AA725529, AB209513, AC104332, AC104456, AF008915, AL133332, CN334472
      Consensus CDS
      CCDS30774.1
      UniProtKB/Swiss-Prot
      O60447
      UniProtKB/TrEMBL
      Q59FE7
      Related
      ENSP00000359356.1, ENST00000370331.5
      Conserved Domains (3) summary
      smart00164
      Location:160368
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam07960
      Location:500595
      CBP4; CBP4
      cl11555
      Location:453493
      DUF1129; Protein of unknown function (DUF1129)

    RefSeqs of Annotated Genomes: Homo sapiens 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_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      92508696..92792413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002272.1XP_016857761.1  ecotropic viral integration site 5 protein homolog isoform X4

    2. XM_017002284.2XP_016857773.1  ecotropic viral integration site 5 protein homolog isoform X16

    3. XM_017002281.2XP_016857770.1  ecotropic viral integration site 5 protein homolog isoform X12

    4. XM_017002271.2XP_016857760.1  ecotropic viral integration site 5 protein homolog isoform X3

    5. XM_017002277.1XP_016857766.1  ecotropic viral integration site 5 protein homolog isoform X8

    6. XM_017002283.1XP_016857772.1  ecotropic viral integration site 5 protein homolog isoform X15

    7. XM_017002278.1XP_016857767.1  ecotropic viral integration site 5 protein homolog isoform X9

    8. XM_017002269.1XP_016857758.1  ecotropic viral integration site 5 protein homolog isoform X1

    9. XM_017002282.1XP_016857771.1  ecotropic viral integration site 5 protein homolog isoform X14

    10. XM_017002273.2XP_016857762.1  ecotropic viral integration site 5 protein homolog isoform X5

      Conserved Domains (3) summary
      smart00164
      Location:143351
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam07960
      Location:543638
      CBP4; CBP4
      cl11555
      Location:496536
      DUF1129; Protein of unknown function (DUF1129)
    11. XM_017002286.2XP_016857775.1  ecotropic viral integration site 5 protein homolog isoform X17

    12. XM_017002287.2XP_016857776.1  ecotropic viral integration site 5 protein homolog isoform X17

    13. XM_017002276.2XP_016857765.1  ecotropic viral integration site 5 protein homolog isoform X7

    14. XM_017002270.2XP_016857759.1  ecotropic viral integration site 5 protein homolog isoform X2

      Conserved Domains (3) summary
      smart00164
      Location:184392
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam07960
      Location:584679
      CBP4; CBP4
      cl11555
      Location:537577
      DUF1129; Protein of unknown function (DUF1129)
    15. XM_017002274.1XP_016857763.1  ecotropic viral integration site 5 protein homolog isoform X5

      Conserved Domains (3) summary
      smart00164
      Location:143351
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam07960
      Location:543638
      CBP4; CBP4
      cl11555
      Location:496536
      DUF1129; Protein of unknown function (DUF1129)
    16. XM_017002275.1XP_016857764.1  ecotropic viral integration site 5 protein homolog isoform X5

      Conserved Domains (3) summary
      smart00164
      Location:143351
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam07960
      Location:543638
      CBP4; CBP4
      cl11555
      Location:496536
      DUF1129; Protein of unknown function (DUF1129)
    17. XM_017002279.1XP_016857768.1  ecotropic viral integration site 5 protein homolog isoform X10

    18. XM_024449690.1XP_024305458.1  ecotropic viral integration site 5 protein homolog isoform X13

      Conserved Domains (2) summary
      smart00164
      Location:71279
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl25732
      Location:304648
      SMC_N; RecF/RecN/SMC N terminal domain
    19. XM_017002288.1XP_016857777.1  ecotropic viral integration site 5 protein homolog isoform X17

    20. XM_024449686.1XP_024305454.1  ecotropic viral integration site 5 protein homolog isoform X6

      Conserved Domains (2) summary
      smart00164
      Location:160368
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl25732
      Location:393737
      SMC_N; RecF/RecN/SMC N terminal domain
    21. XM_024449689.1XP_024305457.1  ecotropic viral integration site 5 protein homolog isoform X11

      Conserved Domains (2) summary
      smart00164
      Location:187395
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl25732
      Location:433745
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. XR_001737401.1 RNA Sequence

    Support Center