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

Summary

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
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

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

Review eQTL and phenotype association data in this region using PheGenI

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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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
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

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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)

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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)

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

84231520..84241546 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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