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LRRC9 leucine rich repeat containing 9 [ Homo sapiens (human) ]

Gene ID: 341883, updated on 26-Nov-2021

Summary

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Official Symbol
LRRC9provided by HGNC
Official Full Name
leucine rich repeat containing 9provided by HGNC
Primary source
HGNC:HGNC:19848
See related
Ensembl:ENSG00000131951
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
Expression
Restricted expression toward testis (RPKM 3.9) See more
Orthologs
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Genomic context

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See LRRC9 in Genome Data Viewer
Location:
14q23.1
Exon count:
40
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (59919713..60066817)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (60386431..60531314)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene trans-L-3-hydroxyproline dehydratase Neighboring gene JNK1/MAPK8 associated membrane protein Neighboring gene coiled-coil domain containing 175 Neighboring gene reticulon 1 Neighboring gene microRNA 5586 Neighboring gene PCNX4 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 1153 Neighboring gene pecanex 4 Neighboring gene dehydrogenase/reductase 7 Neighboring gene short coiled-coil protein pseudogene 1

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
  • 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. Validating Missing Proteins in Human Sperm Cells by Targeted Mass-Spectrometry- and Antibody-based Methods. Carapito C, et al. J Proteome Res, 2017 Dec 1. PMID 28891297
  2. ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest. Noguchi A, et al. Biol Open, 2018 Mar 12. PMID 29449217, Free PMC Article
  3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

GeneRIFs: Gene References Into Functions

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)

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

  • FLJ46156

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
leucine-rich repeat-containing protein 9

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_001355272.3 → NP_001342201.1  leucine-rich repeat-containing protein 9

    Status: VALIDATED

    Source sequence(s)
    AL133299, AL157911
    Consensus CDS
    CCDS86397.1
    Related
    ENSP00000493790.1, ENST00000647410.1
    Conserved Domains (4) summary
    sd00033
    Location:1141 → 1166
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    NF033189
    Location:659 → 966
    internalin_A; class 1 internalin InlA
    cd21340
    Location:55 → 236
    PPP1R42; protein phosphatase 1 regulatory subunit 42

  2. NM_001395648.1 → NP_001382577.1  leucine-rich repeat-containing protein 9

    Status: VALIDATED

    Source sequence(s)
    AL133299, AL157911
    Conserved Domains (4) summary
    sd00033
    Location:1141 → 1166
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    NF033189
    Location:659 → 966
    internalin_A; class 1 internalin InlA
    cd21340
    Location:55 → 236
    PPP1R42; protein phosphatase 1 regulatory subunit 42

RNA

  1. NR_075071.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL133299, AL157911
    Related
    ENST00000254271.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    59919713..60066817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449566.1 → XP_024305334.1  leucine-rich repeat-containing protein 9 isoform X2

    Conserved Domains (4) summary
    sd00033
    Location:698 → 717
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    NF033188
    Location:1201 → 1371
    internalin_H; InlH/InlC2 family class 1 internalin
    NF033189
    Location:888 → 1271
    internalin_A; class 1 internalin InlA

  2. XM_024449567.1 → XP_024305335.1  leucine-rich repeat-containing protein 9 isoform X3

    Conserved Domains (5) summary
    sd00033
    Location:1097 → 1122
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam13855
    Location:672 → 728
    LRR_8; Leucine rich repeat
    pfam14580
    Location:1192 → 1321
    LRR_9; Leucine-rich repeat
    cl03951
    Location:224 → 309
    CDC37_N; Cdc37 N terminal kinase binding

  3. XM_024449563.1 → XP_024305331.1  leucine-rich repeat-containing protein 9 isoform X1

    Conserved Domains (4) summary
    sd00033
    Location:1141 → 1166
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    NF033189
    Location:659 → 966
    internalin_A; class 1 internalin InlA
    cd21340
    Location:55 → 236
    PPP1R42; protein phosphatase 1 regulatory subunit 42

  4. XM_024449569.1 → XP_024305337.1  leucine-rich repeat-containing protein 9 isoform X4

    Related
    ENSP00000454748.1, ENST00000445360.5
    Conserved Domains (4) summary
    sd00033
    Location:1141 → 1166
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam13855
    Location:716 → 772
    LRR_8; Leucine rich repeat
    pfam14580
    Location:1236 → 1365
    LRR_9; Leucine-rich repeat

  5. XM_024449570.1 → XP_024305338.1  leucine-rich repeat-containing protein 9 isoform X5

    Conserved Domains (4) summary
    sd00033
    Location:698 → 717
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam13855
    Location:1250 → 1306
    LRR_8; Leucine rich repeat
    pfam14580
    Location:97 → 246
    LRR_9; Leucine-rich repeat

  6. XM_024449574.1 → XP_024305342.1  leucine-rich repeat-containing protein 9 isoform X9

    Conserved Domains (5) summary
    sd00031
    Location:696 → 717
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:56 → 77
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam13855
    Location:716 → 772
    LRR_8; Leucine rich repeat
    pfam14580
    Location:97 → 246
    LRR_9; Leucine-rich repeat

  7. XM_024449571.1 → XP_024305339.1  leucine-rich repeat-containing protein 9 isoform X6

    Conserved Domains (5) summary
    sd00031
    Location:696 → 717
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:56 → 77
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam13855
    Location:716 → 772
    LRR_8; Leucine rich repeat
    pfam14580
    Location:97 → 246
    LRR_9; Leucine-rich repeat

  8. XM_024449572.1 → XP_024305340.1  leucine-rich repeat-containing protein 9 isoform X7

    Conserved Domains (5) summary
    sd00031
    Location:696 → 717
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:56 → 77
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam13855
    Location:716 → 772
    LRR_8; Leucine rich repeat
    pfam14580
    Location:97 → 246
    LRR_9; Leucine-rich repeat

  9. XM_024449573.1 → XP_024305341.1  leucine-rich repeat-containing protein 9 isoform X8

    Conserved Domains (5) summary
    sd00031
    Location:696 → 717
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:56 → 77
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam13855
    Location:716 → 772
    LRR_8; Leucine rich repeat
    pfam14580
    Location:97 → 246
    LRR_9; Leucine-rich repeat

  10. XM_024449575.1 → XP_024305343.1  leucine-rich repeat-containing protein 9 isoform X10

    Conserved Domains (5) summary
    sd00031
    Location:696 → 717
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:56 → 77
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam13855
    Location:716 → 772
    LRR_8; Leucine rich repeat
    pfam14580
    Location:97 → 246
    LRR_9; Leucine-rich repeat

  11. XM_024449568.1 → XP_024305336.1  leucine-rich repeat-containing protein 9 isoform X3

    Conserved Domains (5) summary
    sd00033
    Location:1097 → 1122
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam13855
    Location:672 → 728
    LRR_8; Leucine rich repeat
    pfam14580
    Location:1192 → 1321
    LRR_9; Leucine-rich repeat
    cl03951
    Location:224 → 309
    CDC37_N; Cdc37 N terminal kinase binding

  12. XM_024449564.1 → XP_024305332.1  leucine-rich repeat-containing protein 9 isoform X1

    Conserved Domains (4) summary
    sd00033
    Location:1141 → 1166
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    NF033189
    Location:659 → 966
    internalin_A; class 1 internalin InlA
    cd21340
    Location:55 → 236
    PPP1R42; protein phosphatase 1 regulatory subunit 42

  13. XM_024449565.1 → XP_024305333.1  leucine-rich repeat-containing protein 9 isoform X1

    Conserved Domains (4) summary
    sd00033
    Location:1141 → 1166
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:192 → 223
    LRR_AMN1; leucine-rich repeat [structural motif]
    NF033189
    Location:659 → 966
    internalin_A; class 1 internalin InlA
    cd21340
    Location:55 → 236
    PPP1R42; protein phosphatase 1 regulatory subunit 42

RNA

  1. XR_002957549.1 RNA Sequence

  2. XR_002957550.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198499.1: Suppressed sequence

    Description
    NM_198499.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZRR7.2 GenPept UniProtKB/Swiss-Prot:Q6ZRR7

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