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    LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 [ Homo sapiens (human) ]

    Gene ID: 85444, updated on 26-Nov-2024

    Summary

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    Official Symbol
    LRRCC1provided by HGNC
    Official Full Name
    leucine rich repeat and coiled-coil centrosomal protein 1provided by HGNC
    Primary source
    HGNC:HGNC:29373
    See related
    Ensembl:ENSG00000133739 MIM:617791; AllianceGenome:HGNC:29373
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAP2; VFL1; CLERC; CLERK
    Summary
    This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain and a C-terminal coiled-coil domain. It associates with the centrosome throughout the cell cycle and accumulates on the mitotic centrosome. [provided by RefSeq, Mar 2017]
    Expression
    Broad expression in testis (RPKM 21.8), thyroid (RPKM 6.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRCC1 in Genome Data Viewer
    Location:
    8q21.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (85107238..85146080)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (85545871..85584696)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (86019473..86058315)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene joining chain of multimeric IgA and IgM pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27588 Neighboring gene solute carrier family 7 member 13 pseudogene Neighboring gene uncharacterized LOC105375933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19334 Neighboring gene E2F5 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19335 Neighboring gene E2F transcription factor 5 Neighboring gene ribosomal biogenesis factor

    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. An evolutionarily conserved leucine-rich repeat protein CLERC is a centrosomal protein required for spindle pole integrity. Muto Y, et al. Cell Cycle, 2008 Sep 1. PMID 18728398
    2. The Centrosome, a Multitalented Renaissance Organelle. Vertii A, et al. Cold Spring Harb Perspect Biol, 2016 Dec 1. PMID 27908937, Free PMC Article
    3. Mitotic spindle assembly in animal cells: a fine balancing act. Prosser SL, et al. Nat Rev Mol Cell Biol, 2017 Mar. PMID 28174430
    4. Evolutionary conservation of centriole rotational asymmetry in the human centrosome. Gaudin N, et al. Elife, 2022 Mar 23. PMID 35319462, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evolutionary conservation of centriole rotational asymmetry in the human centrosome.
      Title: Evolutionary conservation of centriole rotational asymmetry in the human centrosome.
    2. These data indicate that the major function of CLERC during mitosis is to maintain the structural integrity of centrosomes, thereby contributing to spindle bipolarity.
      Title: An evolutionarily conserved leucine-rich repeat protein CLERC is a centrosomal protein required for spindle pole integrity.
    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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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat and coiled-coil domain-containing protein 1
    Names
    centrosomal leucine-rich repeat and coiled-coil domain-containing protein
    sodium channel associated protein 2
    variable number of flagella 1 homolog

    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.

    Genomic

    1. NG_053066.1 RefSeqGene

      Range
      5151..43993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001349636.2 → NP_001336565.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region which results in a frameshift, and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC011773, AK057990, AK300874
      Conserved Domains (3) summary
      sd00031
      Location:18 → 43
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:17 → 76
      LRR_8; Leucine rich repeat
      cl25732
      Location:339 → 812
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001349637.2 → NP_001336566.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, contains an alternate exon in the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC011773, AC083962
      Conserved Domains (1) summary
      cl25732
      Location:290 → 763
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001349638.2 → NP_001336567.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks two alternate exons in the 5' coding region which results in a frameshift, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC011773, AC083962
      Conserved Domains (1) summary
      cl25732
      Location:267 → 607
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_001349639.2 → NP_001336568.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks three alternate exons in the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC011773, AC083962, DB145064
      Conserved Domains (1) summary
      cl25732
      Location:187 → 527
      SMC_N; RecF/RecN/SMC N terminal domain

    5. NM_033402.5 → NP_208325.3  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_208325.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA000990, BC030701, BR000818, DB458600
      Consensus CDS
      CCDS43750.1
      UniProtKB/Swiss-Prot
      B4DYX6, B5RI11, Q8N768, Q96DK7, Q96N01, Q9C099
      Related
      ENSP00000353538.3, ENST00000360375.8
      Conserved Domains (5) summary
      COG0419
      Location:432 → 905
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      sd00033
      Location:45 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:66 → 107
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:66 → 121
      LRR_8; Leucine rich repeat
      cl19219
      Location:824 → 900
      DUF342; Protein of unknown function (DUF342)

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      85107238..85146080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013921.2 → XP_016869410.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X2

    2. XM_017013920.2 → XP_016869409.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X1

    3. XM_017013922.2 → XP_016869411.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X4

    4. XM_047422364.1 → XP_047278320.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X3

    5. XM_047422365.1 → XP_047278321.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X5

    6. XM_017013923.2 → XP_016869412.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X6

    7. XM_047422367.1 → XP_047278323.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X7

    8. XM_047422368.1 → XP_047278324.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X8

    9. XM_047422369.1 → XP_047278325.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X9

    10. XM_047422370.1 → XP_047278326.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      85545871..85584696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361402.1 → XP_054217377.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X2

    2. XM_054361401.1 → XP_054217376.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X1

    3. XM_054361404.1 → XP_054217379.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X4

    4. XM_054361403.1 → XP_054217378.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X3

    5. XM_054361405.1 → XP_054217380.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X5

    6. XM_054361406.1 → XP_054217381.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X6

    7. XM_054361407.1 → XP_054217382.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X7

    8. XM_054361408.1 → XP_054217383.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X8

    9. XM_054361409.1 → XP_054217384.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X9

    10. XM_054361410.1 → XP_054217385.1  leucine-rich repeat and coiled-coil domain-containing protein 1 isoform X10

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001077501.1: Suppressed sequence

      Description
      NM_001077501.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C099.2 GenPept UniProtKB/Swiss-Prot:Q9C099

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