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

Gene ID: 7813, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:3501
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
Summary
Enables GTPase activator activity and small GTPase binding activity. Involved in positive regulation of GTPase activity and retrograde transport, endosome to Golgi. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 3.8), placenta (RPKM 3.5) and 25 other tissues See more
Orthologs
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Genomic context

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See EVI5 in Genome Data Viewer
Location:
1p22.1
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92508696..92792410, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92353585..92637609, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (92974253..93257967, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 824, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:92948665-92949264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:92949865-92950465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:92951066-92951666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1317 Neighboring gene growth factor independent 1 transcriptional repressor Neighboring gene succinate dehydrogenase assembly factor 3, mitochondrial-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1076 Neighboring gene Sharpr-MPRA regulatory region 13174 Neighboring gene high mobility group box 3 pseudogene 9 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:93158253-93158754 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:93189334-93189860 Neighboring gene RNA, U4 small nuclear 59, pseudogene Neighboring gene zinc finger AN1-type containing 1 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:93239902-93240565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1318 Neighboring gene cyclin J pseudogene 2 Neighboring gene H3 histone pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1319 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:93297399-93298037 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:93298038-93298675 Neighboring gene small nucleolar RNA, C/D box 21 Neighboring gene divergent protein kinase domain 1A Neighboring gene small nucleolar RNA, H/ACA box 66 Neighboring gene ribosomal protein L5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma. Roberts T, et al. Hum Mol Genet, 1998 Jul. PMID 9618176
  2. EVI5 is a novel centrosomal protein that binds to alpha- and gamma-tubulin. Faitar SL, et al. Genomics, 2005 Nov. PMID 16033705
  3. The EVI5 TBC domain provides the GTPase-activating protein motif for RAB11. Dabbeekeh JT, et al. Oncogene, 2007 Apr 26. PMID 17099728
  4. EVI5 is an oncogene that regulates the proliferation and metastasis of NSCLC cells. Cai T, et al. J Exp Clin Cancer Res, 2020 May 11. PMID 32393392, Free PMC Article
  5. A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. Didonna A, et al. Hum Mol Genet, 2015 Dec 15. PMID 26433934, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EVI5 is an oncogene that regulates the proliferation and metastasis of NSCLC cells.
    Title: EVI5 is an oncogene that regulates the proliferation and metastasis of NSCLC cells.
  2. The allele and genotype frequencies of rs6680578 and rs11810217 were not significantly different between relapsing-remitting multiple sclerosis (MS) cases and controls. However, in the rs10735781 the GG genotype was significantly associated with MS risk in recessive and co-dominant models. T G T haplotype (rs6680578, rs10735781 and rs11810217 respectively) was associated with MS risk.
    Title: Ecotropic Viral Integration Site 5 (EVI5) variants are associated with multiple sclerosis in Iranian population.
  3. EVI5 is an useful independent prognostic marker of survival and recurrence in hepatocellular carcinoma
    Title: EVI5 is a novel independent prognostic predictor in hepatocellular carcinoma after radical hepatectomy.
  4. EVI5 as a strong candidate disease risk gene in the 1p22.1 multiple sclerosis risk locus
    Title: A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome.
  5. Data show that heat shock transcription factor 1/miR-135b/reversion-inducing-cysteine-rich protein with kazal motifs and ecotropic viral integration site 5 axis provides novel insight into the mechanisms of hepatocellular carcinoma metastasis.
    Title: MicroRNA-135b, a HSF1 target, promotes tumor invasion and metastasis by regulating RECK and EVI5 in hepatocellular carcinoma.
  6. in HLA-DRB1 positive patients, EVI5 was associated with attacks of greater severity and worse recovery in Multiple sclerosis .
    Title: Multiple sclerosis susceptibility genes: associations with relapse severity and recovery.
  7. cellular functions exhibited by the Evi5 family members
    Title: The Evi5 family in cellular physiology and pathology.
  8. An analysis and fine mapping of GFI-EVI5-RPL5-FAM69A locus, genotyping eight Tag-single nucleotide polymorphisms in 732 multiple sclerosis patients and 974 controls from Spain, was performed.
    Title: Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis.
  9. Stem cell exhaustion due to Runx1 deficiency is prevented by Evi5 activation in leukemogenesis.
    Title: Stem cell exhaustion due to Runx1 deficiency is prevented by Evi5 activation in leukemogenesis.
  10. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in spindle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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)

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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_001308248.2 → NP_001295177.1  ecotropic viral integration site 5 protein homolog isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC104332, AC104456, AL133332, AL354890
    Consensus CDS
    CCDS76179.1
    UniProtKB/TrEMBL
    A0A9L9PXM6
    Related
    ENSP00000440826.2, ENST00000540033.3
    Conserved Domains (3) summary
    smart00164
    Location:160 → 368
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam07960
    Location:511 → 606
    CBP4; CBP4
    cl11555
    Location:464 → 504
    DUF1129; Protein of unknown function (DUF1129)

  2. NM_001350197.2 → NP_001337126.1  ecotropic viral integration site 5 protein homolog isoform 3

    Status: VALIDATED

    Source sequence(s)
    AA725529, AB209513, AB449875, AC104332, AC104456, BM835541, BP282704, BX369930, BX378682, CN334472
    Consensus CDS
    CCDS91002.1
    UniProtKB/TrEMBL
    A0A804HIC4, A0A9L9PXM6
    Related
    ENSP00000506999.1, ENST00000684568.2
    Conserved Domains (2) summary
    smart00164
    Location:116 → 324
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl25732
    Location:349 → 693
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_001350198.2 → NP_001337127.1  ecotropic viral integration site 5 protein homolog isoform 4

    Status: VALIDATED

    Source sequence(s)
    AA725529, AB209513, AB449875, AC104332, AC104456, BM835541, BP282704, BX378682, CN334472
    UniProtKB/TrEMBL
    A0A9L9PXM6, A0A9L9PYE8
    Related
    ENSP00000516595.1, ENST00000706868.1
    Conserved Domains (2) summary
    smart00164
    Location:116 → 324
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl25732
    Location:349 → 693
    SMC_N; RecF/RecN/SMC N terminal domain

  4. NM_001377210.1 → NP_001364139.1  ecotropic viral integration site 5 protein homolog isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC104332, AC104456, AL354890
    UniProtKB/TrEMBL
    A0A9L9PXL1, A0A9L9PXM6
    Related
    ENSP00000516584.1, ENST00000706843.1
    Conserved Domains (2) summary
    smart00164
    Location:157 → 365
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    COG1196
    Location:358 → 631
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  5. NM_001377211.1 → NP_001364140.1  ecotropic viral integration site 5 protein homolog isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC104332, AC104456, AL354890
    Conserved Domains (2) summary
    smart00164
    Location:116 → 324
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    TIGR02168
    Location:380 → 673
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  6. NM_001377212.1 → NP_001364141.1  ecotropic viral integration site 5 protein homolog isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC104332, AC104456, AL354890
    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (2) summary
    smart00164
    Location:116 → 324
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    COG1196
    Location:317 → 590
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  7. NM_001377213.1 → NP_001364142.1  ecotropic viral integration site 5 protein homolog isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC104332, AC104456, AL354890
    UniProtKB/TrEMBL
    A0A9L9PXE3, A0A9L9PXM6
    Related
    ENSP00000516594.1, ENST00000706867.1
    Conserved Domains (2) summary
    smart00164
    Location:143 → 351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    COG1196
    Location:376 → 720
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  8. NM_005665.6 → NP_005656.4  ecotropic viral integration site 5 protein homolog isoform 2

    See identical proteins and their annotated locations for NP_005656.4

    Status: VALIDATED

    Source sequence(s)
    AA725529, AB209513, AC104332, AC104456, AF008915, AL133332, CN334472
    Consensus CDS
    CCDS30774.1
    UniProtKB/Swiss-Prot
    A6NKX8, B9A6J0, O60447, Q9H1Y9
    UniProtKB/TrEMBL
    A0A9L9PXM6
    Related
    ENSP00000359356.1, ENST00000370331.5
    Conserved Domains (3) summary
    smart00164
    Location:160 → 368
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam07960
    Location:500 → 595
    CBP4; CBP4
    cl11555
    Location:453 → 493
    DUF1129; Protein of unknown function (DUF1129)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    92508696..92792410 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430054.1 → XP_047286010.1  ecotropic viral integration site 5 protein homolog isoform X11

  2. XM_017002277.2 → XP_016857766.1  ecotropic viral integration site 5 protein homolog isoform X8

    UniProtKB/TrEMBL
    A0A9L9PXM6

  3. XM_024449686.2 → XP_024305454.1  ecotropic viral integration site 5 protein homolog isoform X7

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (2) summary
    smart00164
    Location:160 → 368
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl25732
    Location:393 → 737
    SMC_N; RecF/RecN/SMC N terminal domain

  4. XM_017002271.3 → XP_016857760.1  ecotropic viral integration site 5 protein homolog isoform X3

    UniProtKB/TrEMBL
    A0A9L9PXM6

  5. XM_024449689.2 → XP_024305457.1  ecotropic viral integration site 5 protein homolog isoform X13

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (2) summary
    smart00164
    Location:187 → 395
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl25732
    Location:433 → 745
    SMC_N; RecF/RecN/SMC N terminal domain

  6. XM_017002278.2 → XP_016857767.1  ecotropic viral integration site 5 protein homolog isoform X10

    UniProtKB/TrEMBL
    A0A9L9PXM6

  7. XM_017002272.2 → XP_016857761.1  ecotropic viral integration site 5 protein homolog isoform X5

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (2) summary
    smart00164
    Location:187 → 395
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    COG1196
    Location:420 → 764
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  8. XM_017002269.2 → XP_016857758.1  ecotropic viral integration site 5 protein homolog isoform X1

    UniProtKB/TrEMBL
    A0A9L9PXM6

  9. XM_017002282.2 → XP_016857771.1  ecotropic viral integration site 5 protein homolog isoform X15

  10. XM_017002286.3 → XP_016857775.1  ecotropic viral integration site 5 protein homolog isoform X16

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (2) summary
    smart00164
    Location:2 → 187
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    COG1196
    Location:212 → 556
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  11. XM_017002273.3 → XP_016857762.1  ecotropic viral integration site 5 protein homolog isoform X6

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (3) summary
    smart00164
    Location:143 → 351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam07960
    Location:543 → 638
    CBP4; CBP4
    cl11555
    Location:496 → 536
    DUF1129; Protein of unknown function (DUF1129)

  12. XM_047430051.1 → XP_047286007.1  ecotropic viral integration site 5 protein homolog isoform X9

  13. XM_047430040.1 → XP_047285996.1  ecotropic viral integration site 5 protein homolog isoform X4

  14. XM_017002270.3 → XP_016857759.1  ecotropic viral integration site 5 protein homolog isoform X2

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (3) summary
    smart00164
    Location:184 → 392
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam07960
    Location:584 → 679
    CBP4; CBP4
    cl11555
    Location:537 → 577
    DUF1129; Protein of unknown function (DUF1129)

  15. XM_017002274.1 → XP_016857763.1  ecotropic viral integration site 5 protein homolog isoform X6

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (3) summary
    smart00164
    Location:143 → 351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam07960
    Location:543 → 638
    CBP4; CBP4
    cl11555
    Location:496 → 536
    DUF1129; Protein of unknown function (DUF1129)

  16. XM_017002275.1 → XP_016857764.1  ecotropic viral integration site 5 protein homolog isoform X6

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (3) summary
    smart00164
    Location:143 → 351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam07960
    Location:543 → 638
    CBP4; CBP4
    cl11555
    Location:496 → 536
    DUF1129; Protein of unknown function (DUF1129)

  17. XM_024449690.2 → XP_024305458.1  ecotropic viral integration site 5 protein homolog isoform X14

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (2) summary
    smart00164
    Location:71 → 279
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl25732
    Location:304 → 648
    SMC_N; RecF/RecN/SMC N terminal domain

  18. XM_017002279.2 → XP_016857768.1  ecotropic viral integration site 5 protein homolog isoform X12

    UniProtKB/TrEMBL
    A0A9L9PXM6

  19. XM_017002288.1 → XP_016857777.1  ecotropic viral integration site 5 protein homolog isoform X16

    UniProtKB/TrEMBL
    A0A9L9PXM6
    Conserved Domains (2) summary
    smart00164
    Location:2 → 187
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    COG1196
    Location:212 → 556
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RNA

  1. XR_001737401.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    92353585..92637609 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60447.3 GenPept UniProtKB/Swiss-Prot:O60447

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