LRRC38 leucine rich repeat containing 38 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRC38provided by HGNC
Official Full Name: leucine rich repeat containing 38provided by HGNC
Primary source: HGNC:HGNC:27005
See related: Ensembl:ENSG00000162494 MIM:615212; AllianceGenome:HGNC:27005
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: Enables potassium channel activator activity and transmembrane transporter binding activity. Involved in positive regulation of voltage-gated potassium channel activity and potassium ion transmembrane transport. Part of voltage-gated potassium channel complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in adrenal (RPKM 10.5) and prostate (RPKM 0.5) See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.21

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (13474973..13514003, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (12916882..12955917, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (13801441..13840498, complement)

Chromosome 1 - NC_000001.11 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
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?

Suggest that BK channel modulation by auxiliary gamma subunits depends on intra- and/or juxta-membrane mechanisms.
Title: Molecular basis for differential modulation of BK channel voltage-dependent gating by auxiliary γ subunits.

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 potassium channel activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel activator activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in positive regulation of voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: leucine-rich repeat-containing protein 38

Names: BK channel auxiliary gamma subunit LRRC38; BK channel auxilliary gamma subunit LRRC38

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_001010847.2 → NP_001010847.1 leucine-rich repeat-containing protein 38 precursor

See identical proteins and their annotated locations for NP_001010847.1

Status: VALIDATED

Source sequence(s)

AC243961, AL354712, BC016048

Consensus CDS

CCDS53269.1

UniProtKB/Swiss-Prot

Q5VT99, Q96B32

Related

ENSP00000365253.3, ENST00000376085.4

Conserved Domains (6) summary

smart00013
Location:27 → 58

LRRNT; Leucine rich repeat N-terminal domain

cd00116
Location:45 → 165

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:58 → 81

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:38 → 56

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:58 → 116

LRR_8; Leucine rich repeat

cl15307
Location:186 → 237

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