LRRC3 leucine rich repeat containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRC3provided by HGNC
Official Full Name: leucine rich repeat containing 3provided by HGNC
Primary source: HGNC:HGNC:14965
See related: Ensembl:ENSG00000160233 MIM:617620; AllianceGenome:HGNC:14965
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: LRRC3DN; C21orf30; C21orf102
Summary: Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver (RPKM 2.2), ovary (RPKM 1.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (44455510..44462196)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (42815963..42822649)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (45875393..45882079)

Chromosome 21 - NC_000021.9 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?

The C21orf30 distal promoter contains an activating cis-regulatory element that is responsive to serum depletion according to promoter reporter assays in HEK 293 cells.
Title: Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.

Submit: New GeneRIF Correction

Phenotypes

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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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Markers

STS_CEB245 (e-PCR)
- UniSTS:255250

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-87688 (e-PCR)
- UniSTS:73285

Trpm2 (e-PCR), detects polymorphism
- UniSTS:259162

L17791 (e-PCR)
- UniSTS:42740

SHGC-154943 (e-PCR)
- UniSTS:183548

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: leucine-rich repeat-containing protein 3

Names: LRRC3 downstream neighbor (non-protein coding); intronless long ORF, AL117578

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_030891.6 → NP_112153.1 leucine-rich repeat-containing protein 3 precursor

See identical proteins and their annotated locations for NP_112153.1

Status: VALIDATED

Source sequence(s)

AK127604, AL117578, AP001065, BC064321

Consensus CDS

CCDS13711.1

UniProtKB/Swiss-Prot

Q0VDJ2, Q9BY71

Related

ENSP00000291592.4, ENST00000291592.6

Conserved Domains (4) summary

smart00013
Location:32 → 68

LRRNT; Leucine rich repeat N-terminal domain

sd00031
Location:48 → 65

LRR_1; leucine-rich repeat [structural motif]

pfam12799
Location:89 → 129

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:69 → 125

LRR_8; Leucine rich repeat