U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LRIT1 leucine rich repeat, Ig-like and transmembrane domains 1 [ Homo sapiens (human) ]

Gene ID: 26103, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
LRIT1provided by HGNC
Official Full Name
leucine rich repeat, Ig-like and transmembrane domains 1provided by HGNC
Primary source
HGNC:HGNC:23404
See related
Ensembl:ENSG00000148602 MIM:616103; AllianceGenome:HGNC:23404
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
PAL; LRRC21; FIGLER9
Summary
Predicted to be involved in visual perception. Predicted to be located in dendrite; endoplasmic reticulum; and membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 2.4) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LRIT1 in Genome Data Viewer
Location:
10q23.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (84231520..84241546, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (85110046..85120066, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (85991276..86001302, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:85963048-85963548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:85963549-85964049 Neighboring gene cadherin related family member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:85974015-85974538 Neighboring gene leucine rich repeat, Ig-like and transmembrane domains 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:86004955-86005454 Neighboring gene retinal G protein coupled receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2553 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:86028972-86030171 Neighboring gene long intergenic non-protein coding RNA 858

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Molecular cloning of a novel membrane glycoprotein, pal, specifically expressed in photoreceptor cells of the retina and containing leucine-rich repeat. Gomi F, et al. J Neurosci, 2000 May 1. PMID 10777785, Free PMC Article
  2. Mapping of transcription start sites of human retina expressed genes. Roni V, et al. BMC Genomics, 2007 Feb 7. PMID 17286855, Free PMC Article
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. Flachsbart F, et al. Mutat Res, 2010 Dec 10. PMID 20800603
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article
  5. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • DKFZp434K091

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

Go to the top of the page Help
Preferred Names
leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1
Names
fibronectin type III, immunoglobulin and leucine rich repeat domains 9
leucine rich repeat containing 21
leucine-rich repeat, immunoglobulin-like and transmembrane domains 1
leucine-rich repeat-containing protein 21
photoreceptor-associated LRR superfamily protein
retina-specific protein PAL

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_015613.3 → NP_056428.1  leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1 precursor

    See identical proteins and their annotated locations for NP_056428.1

    Status: VALIDATED

    Source sequence(s)
    AB031547, AC022389
    Consensus CDS
    CCDS7373.1
    UniProtKB/Swiss-Prot
    Q0QD41, Q9P2V4, Q9Y4N7
    Related
    ENSP00000361177.3, ENST00000372105.4
    Conserved Domains (7) summary
    smart00060
    Location:431 → 498
    FN3; Fibronectin type 3 domain
    smart00410
    Location:267 → 345
    IG_like; Immunoglobulin like
    sd00031
    Location:61 → 84
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:131 → 171
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:131 → 202
    LRR_8; Leucine rich repeat
    cl11960
    Location:267 → 345
    Ig; Immunoglobulin domain
    cl15307
    Location:201 → 240
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    84231520..84241546 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539626.3 → XP_011537928.1  leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1 isoform X1

    Conserved Domains (4) summary
    smart00060
    Location:236 → 303
    FN3; Fibronectin type 3 domain
    smart00410
    Location:72 → 150
    IG_like; Immunoglobulin like
    cl11960
    Location:72 → 150
    Ig; Immunoglobulin domain
    cl15307
    Location:6 → 45
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    85110046..85120066 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365521.1 → XP_054221496.1  leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2V4.1 GenPept UniProtKB/Swiss-Prot:Q9P2V4

Gene LinkOut

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

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools