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

Gene ID: 85444, updated on 10-Dec-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
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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: 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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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. Mitotic spindle assembly in animal cells: a fine balancing act. Prosser SL, et al. Nat Rev Mol Cell Biol, 2017 Mar. PMID 28174430
  3. The Centrosome, a Multitalented Renaissance Organelle. Vertii A, et al. Cold Spring Harb Perspect Biol, 2016 Dec 1. PMID 27908937, Free PMC Article
  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 (20) 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

Clone Names

  • KIAA1764

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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