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    USP6NL USP6 N-terminal like [ Homo sapiens (human) ]

    Gene ID: 9712, updated on 5-Jan-2022

    Summary

    Official Symbol
    USP6NLprovided by HGNC
    Official Full Name
    USP6 N-terminal likeprovided by HGNC
    Primary source
    HGNC:HGNC:16858
    See related
    Ensembl:ENSG00000148429 MIM:605405
    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
    RNTRE; TRE2NL; USP6NL-IT1
    Summary
    Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including plasma membrane to endosome transport; positive regulation of GTPase activity; and retrograde transport, plasma membrane to Golgi. Located in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Nov 2021]
    Expression
    Broad expression in testis (RPKM 11.0), esophagus (RPKM 10.8) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See USP6NL in Genome Data Viewer
    Location:
    10p14
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (11460510..11611650, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (11495945..11653649, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CUGBP Elav-like family member 2 Neighboring gene uncharacterized LOC105376409 Neighboring gene CELF2 antisense RNA 1 Neighboring gene uncharacterized LOC105376411 Neighboring gene uncharacterized LOC105376410 Neighboring gene uncharacterized LOC105376413 Neighboring gene USP6NL antisense RNA 1 Neighboring gene uncharacterized LOC105376412 Neighboring gene VISTA enhancer hs1382 Neighboring gene CRISPRi-validated cis-regulatory element chr10.454

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0019

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    USP6 N-terminal-like protein
    Names
    related to the N-terminus of tre

    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_001080491.5NP_001073960.1  USP6 N-terminal-like protein isoform 2

      See identical proteins and their annotated locations for NP_001073960.1

      Status: VALIDATED

      Source sequence(s)
      AL590416
      Consensus CDS
      CCDS44357.1
      UniProtKB/Swiss-Prot
      Q92738
      Related
      ENSP00000277575.5, ENST00000277575.5
      Conserved Domains (1) summary
      smart00164
      Location:114329
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    2. NM_001391959.1NP_001378888.1  USP6 N-terminal-like protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL590416
      Related
      ENSP00000368539.2, ENST00000379237.6
      Conserved Domains (2) summary
      smart00164
      Location:120335
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      PHA03247
      Location:417746
      PHA03247; large tegument protein UL36; Provisional
    3. NM_001391960.1NP_001378889.1  USP6 N-terminal-like protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL512631, AL590416
      Conserved Domains (2) summary
      smart00164
      Location:48263
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      PHA03247
      Location:345674
      PHA03247; large tegument protein UL36; Provisional
    4. NM_001391961.1NP_001378890.1  USP6 N-terminal-like protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL512631, AL590416
      Conserved Domains (2) summary
      smart00164
      Location:97310
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      PHA03247
      Location:343672
      PHA03247; large tegument protein UL36; Provisional
    5. NM_014688.5NP_055503.1  USP6 N-terminal-like protein isoform 1

      See identical proteins and their annotated locations for NP_055503.1

      Status: VALIDATED

      Source sequence(s)
      AL512631, AL590416
      Consensus CDS
      CCDS53492.1
      UniProtKB/Swiss-Prot
      Q92738
      Related
      ENSP00000476462.1, ENST00000609104.6
      Conserved Domains (2) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl26464
      Location:394723
      Atrophin-1; Atrophin-1 family

    RNA

    1. NR_125732.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple exons and contains an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks almost the entire coding region found in variant 1.
      Source sequence(s)
      AA741061, BC010351
      Related
      ENST00000606752.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      11460510..11611650 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717542.3XP_006717605.1  USP6 N-terminal-like protein isoform X1

      See identical proteins and their annotated locations for XP_006717605.1

      Conserved Domains (1) summary
      smart00164
      Location:125340
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    2. XM_024448263.1XP_024304031.1  USP6 N-terminal-like protein isoform X3

      Conserved Domains (2) summary
      smart00164
      Location:18233
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl26464
      Location:315644
      Atrophin-1; Atrophin-1 family
    3. XM_011519762.2XP_011518064.1  USP6 N-terminal-like protein isoform X1

      See identical proteins and their annotated locations for XP_011518064.1

      Conserved Domains (1) summary
      smart00164
      Location:125340
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    4. XM_011519763.2XP_011518065.1  USP6 N-terminal-like protein isoform X4

      See identical proteins and their annotated locations for XP_011518065.1

      Conserved Domains (1) summary
      smart00164
      Location:1156
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    5. XM_017016972.1XP_016872461.1  USP6 N-terminal-like protein isoform X4

      Conserved Domains (1) summary
      smart00164
      Location:1156
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    6. XM_017016971.1XP_016872460.1  USP6 N-terminal-like protein isoform X2

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