LRRC41 leucine rich repeat containing 41 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRC41provided by HGNC
Official Full Name: leucine rich repeat containing 41provided by HGNC
Primary source: HGNC:HGNC:16917
See related: Ensembl:ENSG00000132128 MIM:618753; AllianceGenome:HGNC:16917
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: MUF1; PP7759
Summary: Predicted to enable identical protein binding activity. Predicted to be involved in protein ubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 20.0), ovary (RPKM 19.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.1-p33

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (46277462..46303616, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (46154683..46180838, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (46743134..46769288, 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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Markers

RH47045 (e-PCR)
- UniSTS:17162

RH70950 (e-PCR)
- UniSTS:49004

L17971 (e-PCR)
- UniSTS:43966

RH70932 (e-PCR)
- UniSTS:30162

SHGC-74777 (e-PCR)
- UniSTS:25560

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: leucine-rich repeat-containing protein 41

Names: MUF1 protein (MUF1); elongin BC-interacting leucine-rich repeat protein; protein Muf1

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_006369.5 → NP_006360.3 leucine-rich repeat-containing protein 41

See identical proteins and their annotated locations for NP_006360.3

Status: VALIDATED

Source sequence(s)

AK291283, AL121602, AL122001

Consensus CDS

CCDS533.1

UniProtKB/Swiss-Prot

A8K5G8, Q15345, Q3MJ96, Q5TDF5, Q71RA8, Q9BSM0

UniProtKB/TrEMBL

A0A0B4J2G4

Related

ENSP00000477792.1, ENST00000617190.5

Conserved Domains (1) summary

cl39015
Location:603 → 749

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 ...