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

Gene ID: 127255, updated on 5-Aug-2018

Summary

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; Vega:OTTHUMG00000009508
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

Genomic context

See LRRIQ3 in Genome Data Viewer
Location:
1p31.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (74026015..74198201, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (74491699..74663871, 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 FPGT-TNNI3K readthrough Neighboring gene fucose-1-phosphate guanylyltransferase Neighboring gene TNNI3 interacting kinase Neighboring gene uncharacterized LOC105378805 Neighboring gene leucine rich repeat containing 53

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 Jun 15 11:32:44 2016

Phenotypes

NHGRI 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.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
NHGRI GWA Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22773

Gene Ontology Provided by GOA

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

General protein information

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)

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_001105659.1NP_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
    Related
    ENSP00000346414.4, ENST00000354431.8
    Conserved Domains (3) summary
    sd00031
    Location:5273
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:73115
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:51109
    LRR_8; Leucine rich repeat
  2. NM_001322315.1NP_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:5273
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:73115
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:51109
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    74026015..74198201 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000287.2XP_016855776.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X2

    Related
    ENSP00000415319.1, ENST00000415760.5
  2. XM_024453190.1XP_024308958.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X4

  3. XM_024453185.1XP_024308953.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X1

    Conserved Domains (3) summary
    sd00031
    Location:5273
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:51109
    LRR_8; Leucine rich repeat
    pfam14580
    Location:21163
    LRR_9; Leucine-rich repeat
  4. XM_024453188.1XP_024308956.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X3

  5. XM_024453192.1XP_024308960.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X6

    Conserved Domains (3) summary
    sd00031
    Location:5273
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:51109
    LRR_8; Leucine rich repeat
    pfam14580
    Location:21163
    LRR_9; Leucine-rich repeat
  6. XM_024453191.1XP_024308959.1  leucine-rich repeat and IQ domain-containing protein 3 isoform X5

    Conserved Domains (3) summary
    sd00031
    Location:5273
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:51109
    LRR_8; Leucine rich repeat
    pfam14580
    Location:21163
    LRR_9; Leucine-rich repeat

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.
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