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    EVI5L ecotropic viral integration site 5 like [ Homo sapiens (human) ]

    Gene ID: 115704, updated on 27-Nov-2024

    Summary

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    Official Symbol
    EVI5Lprovided by HGNC
    Official Full Name
    ecotropic viral integration site 5 likeprovided by HGNC
    Primary source
    HGNC:HGNC:30464
    See related
    Ensembl:ENSG00000142459 AllianceGenome:HGNC:30464
    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
    Summary
    Enables GTPase activator activity and small GTPase binding activity. Involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 14.8), brain (RPKM 11.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EVI5L in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7830218..7864976)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7831173..7865933)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7895104..7929862)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene C-type lectin domain family 4 member G pseudogene 1 Neighboring gene uncharacterized LOC124904628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13901 Neighboring gene exosome component 3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9991 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7912355-7912856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7922203-7922988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7926271-7926910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7926911-7927548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7928643-7929351 Neighboring gene Sharpr-MPRA regulatory region 2174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7933728-7934489 Neighboring gene Sharpr-MPRA regulatory region 8899 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7938477-7938993 Neighboring gene proline rich 36 Neighboring gene LYPLA2 pseudogene 2

    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. The Evi5 family in cellular physiology and pathology. Lim YS, et al. FEBS Lett, 2013 Jun 19. PMID 23669355
    2. Tgif1 and Tgif2 Repress Expression of the RabGAP Evi5l. Anderson AE, et al. Mol Cell Biol, 2017 Mar 1. PMID 27956704, Free PMC Article
    3. Host determinants of HIV-1 control in African Americans. Pelak K, et al. J Infect Dis, 2010 Apr 15. PMID 20205591, Free PMC Article
    4. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. Ishibashi K, et al. Genes Cells, 2009 Jan. PMID 19077034
    5. Functional dissection of Rab GTPases involved in primary cilium formation. Yoshimura S, et al. J Cell Biol, 2007 Jul 30. PMID 17646400, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Host determinants of HIV-1 control in African Americans.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    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)

    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 negative regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    EVI5-like protein
    Names
    ecotropic viral integration site 5-like protein
    epididymis secretory sperm binding 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_001159944.3 → NP_001153416.1  EVI5-like protein isoform 1

      See identical proteins and their annotated locations for NP_001153416.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB449874, AC010336, BC014111, BI913004, HY051475, KF456491
      Consensus CDS
      CCDS54209.1
      UniProtKB/Swiss-Prot
      Q96CN4
      Related
      ENSP00000445905.1, ENST00000538904.7
      Conserved Domains (2) summary
      smart00164
      Location:112 → 320
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      TIGR02168
      Location:376 → 719
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. NM_145245.5 → NP_660288.1  EVI5-like protein isoform 2

      See identical proteins and their annotated locations for NP_660288.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC008812, AC010336, BC014111, BI755965, BI913004, KF456491
      Consensus CDS
      CCDS12188.1
      UniProtKB/Swiss-Prot
      B9A6I9, Q96CN4
      UniProtKB/TrEMBL
      A0A384MR55
      Related
      ENSP00000270530.3, ENST00000270530.8
      Conserved Domains (2) summary
      smart00164
      Location:112 → 320
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:358 → 680
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      7830218..7864976
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      7831173..7865933
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CN4.1 GenPept UniProtKB/Swiss-Prot:Q96CN4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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