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

    Gene ID: 115704, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in testis (RPKM 14.8), brain (RPKM 11.9) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    EVI5-like protein
    Names
    ecotropic viral integration site 5-like protein
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    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_001159944.3NP_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:112320
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      TIGR02168
      Location:376719
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    2. NM_145245.5NP_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:112320
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:358680
      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)