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UBQLN4 ubiquilin 4 [ Homo sapiens (human) ]

Gene ID: 56893, updated on 23-Nov-2021

Summary

Official Symbol
UBQLN4provided by HGNC
Official Full Name
ubiquilin 4provided by HGNC
Primary source
HGNC:HGNC:1237
See related
Ensembl:ENSG00000160803 MIM:605440
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
A1U; A1Up; UBIN; CIP75; C1orf6
Expression
Ubiquitous expression in brain (RPKM 15.5), endometrium (RPKM 13.7) and 25 other tissues See more
Orthologs
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Genomic context

See UBQLN4 in Genome Data Viewer
Location:
1q22
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156033129..156053798, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156005090..156023589, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ARHGEF2 antisense RNA 1 Neighboring gene uncharacterized LOC107985208 Neighboring gene signal sequence receptor subunit 2 Neighboring gene uncharacterized LOC105371729 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 Neighboring gene RAB25, member RAS oncogene family

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

Associated conditions

Description Tests
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ubiquilin 4 (UBQLN4) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in site of DNA damage IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ubiquilin-4
Names
ataxin-1 interacting ubiquitin-like protein
ataxin-1 ubiquitin-like interacting protein
ataxin-1 ubiquitin-like-interacting protein A1U
connexin43-interacting protein of 75 kDa

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_001304342.2NP_001291271.1  ubiquilin-4 isoform 2

    See identical proteins and their annotated locations for NP_001291271.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB209566, AI074831, AK302895, BC063841, DC334851, HY061664
    UniProtKB/Swiss-Prot
    Q9NRR5
    UniProtKB/TrEMBL
    B4DZF6, Q59F94
    Conserved Domains (4) summary
    smart00727
    Location:172209
    STI1; Heat shock chaperonin-binding motif
    cd01808
    Location:1383
    hPLIC_N; Ubiquitin-like domain of hPLIC-1 and hPLIC2
    smart00213
    Location:1383
    UBQ; Ubiquitin homologues
    cd14399
    Location:538577
    UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins
  2. NM_020131.5NP_064516.2  ubiquilin-4 isoform 1

    See identical proteins and their annotated locations for NP_064516.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI074831, AL355388, BC063841, DC334851, HY061664
    Consensus CDS
    CCDS1127.1
    UniProtKB/Swiss-Prot
    Q9NRR5
    Related
    ENSP00000357292.3, ENST00000368309.4
    Conserved Domains (4) summary
    smart00727
    Location:192229
    STI1; Heat shock chaperonin-binding motif
    cd01808
    Location:1383
    hPLIC_N; Ubiquitin-like domain of hPLIC-1 and hPLIC2
    smart00213
    Location:1383
    UBQ; Ubiquitin homologues
    cd14399
    Location:558597
    UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    156033129..156053798 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448469.1XP_024304237.1  ubiquilin-4 isoform X1

    Conserved Domains (3) summary
    smart00727
    Location:393424
    STI1; Heat shock chaperonin-binding motif
    cd01808
    Location:1383
    hPLIC_N; Ubiquitin-like domain of hPLIC-1 and hPLIC2
    cl28408
    Location:13291
    UBQ; Ubiquitin homologues
  2. XM_005245348.4XP_005245405.1  ubiquilin-4 isoform X2

    Conserved Domains (3) summary
    smart00727
    Location:192229
    STI1; Heat shock chaperonin-binding motif
    cd01808
    Location:1383
    hPLIC_N; Ubiquitin-like domain of hPLIC-1 and hPLIC2
    smart00213
    Location:1383
    UBQ; Ubiquitin homologues

RNA

  1. XR_921895.3 RNA Sequence

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