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

Gene ID: 127255, updated on 5-Mar-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
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Genomic context

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Location:
1p31.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (74026015..74198176, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (73867620..74039753, complement)
105.20220307 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)

Genotypes

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_2023_10

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

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