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

Gene ID: 115704, updated on 7-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 14.8), brain (RPKM 11.9) and 23 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7830218..7864976)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7831173..7865933)
105.20220307 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 (28) 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)

Genotypes

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 activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

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