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

    Gene ID: 10489, updated on 3-Nov-2024

    Summary

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    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, Nov 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

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    See LRRC41 in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene P3R3URF-PIK3R3 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 837 Neighboring gene PIK3R3 upstream open reading frame Neighboring gene tetraspanin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 838 Neighboring gene protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:46683827-46684328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46685102-46685602 Neighboring gene leucine rich adaptor protein 1 Neighboring gene MPRA-validated peak204 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 839 Neighboring gene RAD54 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46750956-46751580 Neighboring gene NANOG hESC enhancer GRCh37_chr1:46764257-46764758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46766628-46767210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46767211-46767793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46768959-46769542 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46769543-46770124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46794429-46795157 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:46795158-46795887 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46795888-46796616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46797347-46798076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 845 Neighboring gene ubiquinol-cytochrome c reductase hinge protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46804880-46805679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1000 Neighboring gene MPRA-validated peak205 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:46837735-46837899 Neighboring gene NOP2/Sun RNA methyltransferase 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Structural and functional insights into the B30.2/SPRY domain. Woo JS, et al. EMBO J, 2006 Mar 22. PMID 16498413, Free PMC Article
    2. Characterization of Cullin-box sequences that direct recruitment of Cul2-Rbx1 and Cul5-Rbx2 modules to Elongin BC-based ubiquitin ligases. Mahrour N, et al. J Biol Chem, 2008 Mar 21. PMID 18187417
    3. Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking. Pandruvada SN, et al. Mol Cell Biol, 2016 Feb 1. PMID 26598607, Free PMC Article
    4. Muf1, a novel Elongin BC-interacting leucine-rich repeat protein that can assemble with Cul5 and Rbx1 to reconstitute a ubiquitin ligase. Kamura T, et al. J Biol Chem, 2001 Aug 10. PMID 11384984
    5. CRL4(AMBRA1) is a master regulator of D-type cyclins. Simoneschi D, et al. Nature, 2021 Apr. PMID 33854235, Free PMC Article

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126571, MGC126573

    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 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)

    1. 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 ...

    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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      46277462..46303616 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431688.1 → XP_047287644.1  leucine-rich repeat-containing protein 41 isoform X1

      Related
      ENSP00000478135.1, ENST00000472710.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      46154683..46180838 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333865.1 → XP_054189840.1  leucine-rich repeat-containing protein 41 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15345.3 GenPept UniProtKB/Swiss-Prot:Q15345

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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