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LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 [ Homo sapiens (human) ]

Gene ID: 345193, updated on 8-Dec-2018

Summary

Official Symbol
LRIT3provided by HGNC
Official Full Name
leucine rich repeat, Ig-like and transmembrane domains 3provided by HGNC
Primary source
HGNC:HGNC:24783
See related
Ensembl:ENSG00000183423 MIM:615004
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CSNB1F; FIGLER4
Summary
This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See LRIT3 in Genome Data Viewer
Location:
4q25
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (109848182..109872315)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110769340..110793471)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene GAR1 ribonucleoprotein Neighboring gene retinal pigment epithelium-derived rhodopsin homolog Neighboring gene keratin 19 pseudogene 3 Neighboring gene epidermal growth factor Neighboring gene RNA, U6 small nuclear 35, pseudogene

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Homology

Clone Names

  • FLJ44691, MGC120618

Gene Ontology Provided by GOA

Process Evidence Code Pubs
regulation of fibroblast growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
dendrite IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3
Names
fibronectin type III, immunoglobulin and leucine rich repeat domains 4
leucine-rich repeat, immunoglobulin-like and transmembrane domains 3

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.

Genomic

  1. NG_033249.1 RefSeqGene

    Range
    5001..29132
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_198506.4NP_940908.3  leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 precursor

    See identical proteins and their annotated locations for NP_940908.3

    Status: REVIEWED

    Source sequence(s)
    AC005509, AC126283, BC104037, BM665581, DT932743, JQ354981
    Consensus CDS
    CCDS3688.3
    UniProtKB/Swiss-Prot
    Q3SXY7
    Related
    ENSP00000469759.1, ENST00000594814.5
    Conserved Domains (6) summary
    smart00060
    Location:486550
    FN3; Fibronectin type 3 domain
    smart00410
    Location:267345
    IG_like; Immunoglobulin like
    sd00031
    Location:5982
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:131170
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:105165
    LRR_8; Leucine rich repeat
    cl11960
    Location:267345
    Ig; Immunoglobulin domain

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_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    109848182..109872315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008168.1XP_016863657.1  leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 isoform X2

  2. XM_017008167.1XP_016863656.1  leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 isoform X1

    UniProtKB/TrEMBL
    A0A0A0MR64
    Related
    ENSP00000328222.3, ENST00000327908.3
    Conserved Domains (3) summary
    smart00060
    Location:303367
    FN3; Fibronectin type 3 domain
    smart00410
    Location:84162
    IG_like; Immunoglobulin like
    cl11960
    Location:84162
    Ig; Immunoglobulin domain
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