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    CROCC ciliary rootlet coiled-coil, rootletin [ Homo sapiens (human) ]

    Gene ID: 9696, updated on 9-Dec-2024

    Summary

    Official Symbol
    CROCCprovided by HGNC
    Official Full Name
    ciliary rootlet coiled-coil, rootletinprovided by HGNC
    Primary source
    HGNC:HGNC:21299
    See related
    Ensembl:ENSG00000058453 MIM:615776; AllianceGenome:HGNC:21299
    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
    ROLT; CROCC1; TAX1BP2
    Summary
    Predicted to enable kinesin binding activity and structural molecule activity. Involved in several processes, including centriole-centriole cohesion; positive regulation of cilium assembly; and positive regulation of protein localization to cilium. Located in cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in skin (RPKM 4.6), spleen (RPKM 3.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CROCC in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16914085..16972964)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16724512..16783795)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17248426..17299459)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tRNA-Asn (anticodon GTT) 4-1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17221837-17222770 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17222771-17223703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 271 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17230789-17231428 Neighboring gene Sharpr-MPRA regulatory region 252 Neighboring gene RNA, U1 small nuclear 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17247068-17247840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17247841-17248612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17248613-17249384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17249385-17250156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17250340-17250950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17252780-17253390 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:17259505-17259699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17298533-17299510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17300945-17301752 Neighboring gene uncharacterized LOC105376806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17304877-17305382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17305383-17305890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17305891-17306396 Neighboring gene microfibril associated protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17319735-17320236 Neighboring gene ATPase cation transporting 13A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 339

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0445

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinesin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    enables structural molecule activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in centriole-centriole cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in centrosome cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in centrosome cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ciliary basal body organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial structure maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of organelle localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to organelle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in 9+2 motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    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 
    located_in ciliary rootlet ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in subapical part of cell IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    rootletin
    Names
    Tax1-binding protein 2
    ciliary rootlet coiled-coil protein
    rootletin, ciliary rootlet protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_014675.5NP_055490.4  rootletin

      See identical proteins and their annotated locations for NP_055490.4

      Status: VALIDATED

      Source sequence(s)
      AL049569, BK005505, BX284668, KF495875
      Consensus CDS
      CCDS30616.1
      UniProtKB/Swiss-Prot
      Q2VHY3, Q5TZA2, Q66GT7, Q7Z2L4, Q7Z5D7
      Related
      ENSP00000364691.4, ENST00000375541.10
      Conserved Domains (3) summary
      COG1196
      Location:11351866
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:6131426
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam15035
      Location:156333
      Rootletin; Ciliary rootlet component, centrosome cohesion

    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
      16914085..16972964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435134.1XP_047291090.1  rootletin isoform X4

    2. XM_047435120.1XP_047291076.1  rootletin isoform X4

    3. XM_006711058.4XP_006711121.1  rootletin isoform X4

      Conserved Domains (3) summary
      COG1196
      Location:10631794
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:5411354
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam15035
      Location:84261
      Rootletin; Ciliary rootlet component, centrosome cohesion
    4. XM_047435135.1XP_047291091.1  rootletin isoform X5

    5. XM_047435136.1XP_047291092.1  rootletin isoform X6

    6. XM_047435115.1XP_047291071.1  rootletin isoform X2

    7. XM_047435117.1XP_047291073.1  rootletin isoform X3

    8. XM_047435114.1XP_047291070.1  rootletin isoform X1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791756.1 Reference GRCh38.p14 PATCHES

      Range
      1329237..1388542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332824.1XP_054188799.1  rootletin isoform X6

    2. XM_054332821.1XP_054188796.1  rootletin isoform X4

    3. XM_054332823.1XP_054188798.1  rootletin isoform X5

    4. XM_054332820.1XP_054188795.1  rootletin isoform X4

    5. XM_054332817.1XP_054188792.1  rootletin isoform X7

    6. XM_054332818.1XP_054188793.1  rootletin isoform X2

    7. XM_054332819.1XP_054188794.1  rootletin isoform X3

    8. XM_054332822.1XP_054188797.1  rootletin isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      16724512..16783795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339762.1XP_054195737.1  rootletin isoform X6

    2. XM_054339756.1XP_054195731.1  rootletin isoform X4

    3. XM_054339759.1XP_054195734.1  rootletin isoform X5

    4. XM_054339757.1XP_054195732.1  rootletin isoform X4

    5. XM_054339754.1XP_054195729.1  rootletin isoform X2

    6. XM_054339755.1XP_054195730.1  rootletin isoform X3

    7. XM_054339758.1XP_054195733.1  rootletin isoform X9

    8. XM_054339760.1XP_054195735.1  rootletin isoform X10

    9. XM_054339753.1XP_054195728.1  rootletin isoform X1

    10. XM_054339761.1XP_054195736.1  rootletin isoform X11

    11. XM_054339764.1XP_054195739.1  rootletin isoform X13

    12. XM_054339763.1XP_054195738.1  rootletin isoform X12

    13. XM_054339765.1XP_054195740.1  rootletin isoform X14

    RNA

    1. XR_008486217.1 RNA Sequence