LRRC19 leucine rich repeat containing 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRC19provided by HGNC
Official Full Name: leucine rich repeat containing 19provided by HGNC
Primary source: HGNC:HGNC:23379
See related: Ensembl:ENSG00000184434 MIM:619068; AllianceGenome:HGNC:23379
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
Summary: Predicted to enable signaling receptor activity. Acts upstream of or within positive regulation of NIK/NF-kappaB signaling. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in colon (RPKM 23.4), kidney (RPKM 20.5) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p21.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (26993136..27005672, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (27003714..27016252, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (26993134..27005670, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRRC19-A Bridge between Selenium Adjuvant Therapy and Renal Clear Cell Carcinoma: A Study Based on Datamining.
Title: LRRC19-A Bridge between Selenium Adjuvant Therapy and Renal Clear Cell Carcinoma: A Study Based on Datamining.
LRRC19 may play an important role in inducing innate immune responses in certain tissues such as the kidney.
Title: LRRC19, a novel member of the leucine-rich repeat protein family, activates NF-kappaB and induces expression of proinflammatory cytokines.

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)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in host-mediated regulation of intestinal microbiota composition	ISS Inferred from Sequence or Structural Similarity more info
involved_in interleukin-8 production	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in toll-like receptor signaling pathway	IEA Inferred from Electronic Annotation more info

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 19

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_022901.3 → NP_075052.1 leucine-rich repeat-containing protein 19 precursor

See identical proteins and their annotated locations for NP_075052.1

Status: VALIDATED

Source sequence(s)

AK024955, AK025070, AL355432, BC126156, BF431646

Consensus CDS

CCDS6518.1

UniProtKB/Swiss-Prot

A0AV00, B9EG91, Q9H756

UniProtKB/TrEMBL

Q53GE4

Related

ENSP00000369395.5, ENST00000380055.6

Conserved Domains (4) summary

sd00031
Location:49 → 71

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:97 → 157

LRR_8; Leucine rich repeat

pfam15176
Location:257 → 370

LRR19-TM; Leucine-rich repeat family 19 TM domain

cl15307
Location:176 → 227

TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain