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    LRRIQ1 leucine rich repeats and IQ motif containing 1 [ Homo sapiens (human) ]

    Gene ID: 84125, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LRRIQ1provided by HGNC
    Official Full Name
    leucine rich repeats and IQ motif containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25708
    See related
    Ensembl:ENSG00000133640 MIM:620922; AllianceGenome:HGNC:25708
    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
    Predicted to be involved in regulation of signal transduction. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 3.9), lung (RPKM 0.9) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRIQ1 in Genome Data Viewer
    Location:
    12q21.31
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (85036351..85272805)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (85015741..85253151)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (85430129..85638883)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:85306245-85306792 Neighboring gene uncharacterized LOC102724680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:85306793-85307339 Neighboring gene NANOG hESC enhancer GRCh37_chr12:85397904-85398436 Neighboring gene Sharpr-MPRA regulatory region 14945 Neighboring gene tetraspanin 19 Neighboring gene Sharpr-MPRA regulatory region 79 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:85711317-85711919 and GRCh37_chr12:85711920-85712521 Neighboring gene long intergenic non-protein coding RNA 2820 Neighboring gene ALX homeobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6693 Neighboring gene uncharacterized LOC107984537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6694

    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. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906
    2. Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation. Kim SO, et al. Int J Mol Sci, 2021 Jul 15. PMID 34299191, Free PMC Article
    3. Genome-scale RNAi screen for host factors required for HIV replication. Zhou H, et al. Cell Host Microbe, 2008 Nov 13. PMID 18976975
    4. Tumor suppressor BAP1 nuclear import is governed by transportin-1. Yang TJ, et al. J Cell Biol, 2022 Jun 6. PMID 35446349, Free PMC Article
    5. Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4-Associated Factors, Cellular Functions, and Protein Substrates. Raisch J, et al. Mol Cell Proteomics, 2023 Oct. PMID 37689310, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of leucine-rich repeats and IQ motif containing 1 (LRRIQ1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12303

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat- and IQ domain-containing protein 1; leucine-rich repeat and IQ domain-containing protein 1
    Names
    testicular tissue protein Li 111

    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_001079910.2 → NP_001073379.1  leucine-rich repeat- and IQ domain-containing protein 1

      See identical proteins and their annotated locations for NP_001073379.1

      Status: VALIDATED

      Source sequence(s)
      AB058704, AC079631, AU122206, BU608190, BU677204, CA502842, DB447399, DN831755
      Consensus CDS
      CCDS41816.1
      UniProtKB/Swiss-Prot
      Q567P4, Q96JM4, Q9BS17, Q9HA36
      UniProtKB/TrEMBL
      A0A140VJN5
      Related
      ENSP00000376910.2, ENST00000393217.7
      Conserved Domains (5) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      cd00116
      Location:963 → 1095
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:818 → 856
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      85036351..85272805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538819.4 → XP_011537121.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X3

      Conserved Domains (5) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      cd00116
      Location:963 → 1095
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:818 → 856
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat

    2. XM_024449222.2 → XP_024304990.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X7

      Conserved Domains (5) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat
      cl26018
      Location:971 → 1108
      NEL; C-terminal novel E3 ligase, LRR-interacting
      cl26511
      Location:162 → 644
      Neuromodulin_N; Gap junction protein N-terminal region

    3. XM_011538817.3 → XP_011537119.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X1

      Conserved Domains (6) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      cd00116
      Location:963 → 1095
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:818 → 856
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat
      pfam14988
      Location:164 → 343
      DUF4515; Domain of unknown function (DUF4515)

    4. XM_024449221.2 → XP_024304989.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X6

      Conserved Domains (5) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat
      cl26018
      Location:971 → 1108
      NEL; C-terminal novel E3 ligase, LRR-interacting
      cl26511
      Location:162 → 644
      Neuromodulin_N; Gap junction protein N-terminal region

    5. XM_047429655.1 → XP_047285611.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X12

    6. XM_011538818.3 → XP_011537120.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X2

      Conserved Domains (5) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      cd00116
      Location:963 → 1095
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:818 → 856
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat

    7. XM_024449220.2 → XP_024304988.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X5

      Conserved Domains (5) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat
      cl26018
      Location:971 → 1108
      NEL; C-terminal novel E3 ligase, LRR-interacting
      cl26511
      Location:162 → 644
      Neuromodulin_N; Gap junction protein N-terminal region

    8. XM_047429651.1 → XP_047285607.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X4

    9. XM_047429652.1 → XP_047285608.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X4

    10. XM_047429656.1 → XP_047285612.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X13

    11. XM_047429657.1 → XP_047285613.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X14

    12. XM_047429653.1 → XP_047285609.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X8

    13. XM_024449223.2 → XP_024304991.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X9

      Conserved Domains (5) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat
      cl26018
      Location:971 → 1108
      NEL; C-terminal novel E3 ligase, LRR-interacting
      cl26511
      Location:162 → 644
      Neuromodulin_N; Gap junction protein N-terminal region

    14. XM_047429654.1 → XP_047285610.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X11

    15. XM_011538823.3 → XP_011537125.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X10

      Conserved Domains (5) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      cd00116
      Location:963 → 1095
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:818 → 856
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat

    16. XM_011538824.3 → XP_011537126.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X16

      Related
      ENST00000525971.6
      Conserved Domains (5) summary
      smart00015
      Location:1338 → 1354
      IQ; Calmodulin-binding motif
      cd00116
      Location:963 → 1095
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:818 → 856
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:1037 → 1091
      LRR_8; Leucine rich repeat

    17. XM_011538825.3 → XP_011537127.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X15

      Conserved Domains (3) summary
      sd00033
      Location:820 → 841
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:818 → 856
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:1015 → 1070
      LRR_8; Leucine rich repeat

    RNA

    1. XR_944764.3 RNA Sequence

    2. XR_944765.3 RNA Sequence

    3. XR_944766.3 RNA Sequence

    4. XR_001748890.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      85015741..85253151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373435.1 → XP_054229410.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X3

    2. XM_054373440.1 → XP_054229415.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X7

    3. XM_054373433.1 → XP_054229408.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X1

    4. XM_054373439.1 → XP_054229414.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X6

    5. XM_054373445.1 → XP_054229420.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X12

    6. XM_054373434.1 → XP_054229409.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X2

    7. XM_054373438.1 → XP_054229413.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X5

    8. XM_054373436.1 → XP_054229411.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X4

    9. XM_054373437.1 → XP_054229412.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X4

    10. XM_054373446.1 → XP_054229421.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X13

    11. XM_054373447.1 → XP_054229422.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X14

    12. XM_054373441.1 → XP_054229416.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X8

    13. XM_054373442.1 → XP_054229417.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X9

    14. XM_054373444.1 → XP_054229419.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X11

    15. XM_054373443.1 → XP_054229418.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X10

    16. XM_054373448.1 → XP_054229423.1  leucine-rich repeat and IQ domain-containing protein 1 isoform X15

    RNA

    1. XR_008488693.1 RNA Sequence

    2. XR_008488694.1 RNA Sequence

    3. XR_008488695.1 RNA Sequence

    4. XR_008488696.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032165.3: Suppressed sequence

      Description
      NM_032165.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JM4.3 GenPept UniProtKB/Swiss-Prot:Q96JM4

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