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    LRRIQ3 leucine rich repeats and IQ motif containing 3 [ Homo sapiens (human) ]

    Gene ID: 127255, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LRRIQ3provided by HGNC
    Official Full Name
    leucine rich repeats and IQ motif containing 3provided by HGNC
    Primary source
    HGNC:HGNC:28318
    See related
    Ensembl:ENSG00000162620 MIM:617957; AllianceGenome:HGNC:28318
    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
    LRRC44
    Expression
    Biased expression in testis (RPKM 6.2) and fat (RPKM 0.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRIQ3 in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (74026015..74198176, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (73867620..74039753, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (74491699..74663860, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 50 Neighboring gene RNA, U4atac small nuclear 8, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:74467939-74468440 Neighboring gene MPRA-validated peak287 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 994 Neighboring gene FPGT-TNNI3K readthrough Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:74710898-74711549 Neighboring gene fucose-1-phosphate guanylyltransferase Neighboring gene TNNI3 interacting kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74817906-74818406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74818407-74818907 Neighboring gene Sharpr-MPRA regulatory region 9784 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:74994213-74994947 Neighboring gene leucine rich repeat containing 53

    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. Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes. Curtis D, et al. Psychiatr Genet, 2011 Feb. PMID 21057379, Free PMC Article
    2. Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. Yu B, et al. Circ Cardiovasc Genet, 2013 Feb. PMID 23247143, Free PMC Article
    3. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. Yu B, et al. Genet Epidemiol, 2013 Dec. PMID 23934736, Free PMC Article
    4. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). Zhu J, et al. Nat Biotechnol, 2013 Apr. PMID 23503679, Free PMC Article
    5. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
    EBI GWAS Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC22773

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    leucine-rich repeat and IQ domain-containing protein 3
    Names
    leucine rich repeat containing 44
    leucine-rich repeat-containing protein 44

    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_001105659.2 → NP_001099129.1  leucine-rich repeat and IQ domain-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001099129.1

      Status: VALIDATED

      Source sequence(s)
      AC098692, AL359205
      Consensus CDS
      CCDS41350.1
      UniProtKB/Swiss-Prot
      A6PVS8, A6PVS9, Q6P5P7, Q6ZMV4, Q8WUE0
      Related
      ENSP00000346414.4, ENST00000354431.9
      Conserved Domains (3) summary
      sd00031
      Location:52 → 73
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:73 → 115
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:51 → 109
      LRR_8; Leucine rich repeat

    2. NM_001322315.2 → NP_001309244.1  leucine-rich repeat and IQ domain-containing protein 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC098692, AL359205
      Conserved Domains (3) summary
      sd00031
      Location:52 → 73
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:73 → 115
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:51 → 109
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      74026015..74198176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445383.1 → XP_047301339.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X5

    2. XM_047445373.1 → XP_047301329.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X1

    3. XM_047445378.1 → XP_047301334.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X1

    4. XM_047445386.1 → XP_047301342.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X6

      Related
      ENSP00000415319.1, ENST00000415760.5

    5. XM_047445380.1 → XP_047301336.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X3

    6. XM_017000287.3 → XP_016855776.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X3

    7. XM_047445382.1 → XP_047301338.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X4

    8. XM_024453185.2 → XP_024308953.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X2

      Conserved Domains (3) summary
      sd00031
      Location:52 → 73
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:51 → 109
      LRR_8; Leucine rich repeat
      pfam14580
      Location:21 → 163
      LRR_9; Leucine-rich repeat

    RNA

    1. XR_007079570.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      73867620..74039753 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334332.1 → XP_054190307.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X5

    2. XM_054334326.1 → XP_054190301.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X1

    3. XM_054334327.1 → XP_054190302.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X1

    4. XM_054334329.1 → XP_054190304.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X3

    5. XM_054334330.1 → XP_054190305.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X3

    6. XM_054334331.1 → XP_054190306.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X4

    7. XM_054334328.1 → XP_054190303.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X2

    RNA

    1. XR_008485927.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145258.1: Suppressed sequence

      Description
      NM_145258.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6PVS8.1 GenPept UniProtKB/Swiss-Prot:A6PVS8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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