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

    Gene ID: 7813, updated on 27-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
    mouse all
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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
    • 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)

    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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    NEW Try the new Transcript table

    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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