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

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, Nov 2024]
Expression: Ubiquitous expression in skin (RPKM 4.6), spleen (RPKM 3.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Up-regulated microRNA-33b inhibits epithelial-mesenchymal transition in gallbladder cancer through down-regulating CROCC.
Title: Up-regulated microRNA-33b inhibits epithelial-mesenchymal transition in gallbladder cancer through down-regulating CROCC.
Identification of a Structurally Dynamic Domain for Oligomer Formation in Rootletin.
Title: Identification of a Structurally Dynamic Domain for Oligomer Formation in Rootletin.
Rootletin forms large, diffusionally stable bifurcating fibers, which amass slowly on mature centrioles over many hours from anaphase. Nascent centrioles (procentrioles), in contrast, do not form roots and must be licensed to do so through PLK1 activity.
Title: Stable centrosomal roots disentangle to allow interphase centriole independence.
CEP68 is important in forming rootletin filaments that branch off centrioles and to modulate the thickness of rootletin fibers.
Title: STED nanoscopy of the centrosome linker reveals a CEP68-organized, periodic rootletin network anchored to a C-Nap1 ring at centrioles.
It has been proposed that the archetypal linker protein Rootletin maintains centrosome cohesion in part through inhibition of VHL-mediated Cep68 degradation.
Title: Rootletin prevents Cep68 from VHL-mediated proteasomal degradation to maintain centrosome cohesion.
we demonstrated that TAX1BP2 was frequently underexpressed in hepatocellular carcinoma (HCC) and that loss of TAX1BP2 promoted the growth of HCC cells by suppressing activation of the p38/p53/p21 pathway.
Title: The centrosomal protein Tax1 binding protein 2 is a novel tumor suppressor in hepatocellular carcinoma regulated by cyclin-dependent kinase 2.
Data show that serine-922 of TAX1BP2 protein is the phosphorylation site of ataxia telangiectasia mutated (ATM) kinase.
Title: The tumor suppressor, TAX1BP2, is a novel substrate of ATM kinase.
C-NAP1 and rootletin restrain DNA damage-induced centriole splitting and facilitate ciliogenesis.
Title: C-NAP1 and rootletin restrain DNA damage-induced centriole splitting and facilitate ciliogenesis.
Our findings suggest that the HTLV-I Tax oncoprotein targets TAX1BP2 causing genomic instability and aneuploidy.
Title: The retroviral oncoprotein Tax targets the coiled-coil centrosomal protein TAX1BP2 to induce centrosome overduplication.

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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

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 EBI GWAS CatalogPubMed

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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Markers

SHGC-31788 (e-PCR)
- UniSTS:56865

D8S2279 (e-PCR)
- UniSTS:473907

D1S170 (e-PCR)
- UniSTS:147045

D15S1477 (e-PCR)
- UniSTS:474482

RH64845 (e-PCR)
- UniSTS:88690

D1S1423 (e-PCR)
- UniSTS:149619

RH25727 (e-PCR)
- UniSTS:90489

D1S1443 (e-PCR)
- UniSTS:149639

STS-T76997 (e-PCR)
- UniSTS:57556

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 more info	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

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Preferred Names: rootletin

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

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)

NM_014675.5 → NP_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:1135 → 1866

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:613 → 1426

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam15035
Location:156 → 333

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

16914085..16972964

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435134.1 → XP_047291090.1 rootletin isoform X4
XM_047435120.1 → XP_047291076.1 rootletin isoform X4
XM_006711058.4 → XP_006711121.1 rootletin isoform X4

Conserved Domains (3) summary

COG1196
Location:1063 → 1794

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:541 → 1354

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam15035
Location:84 → 261

Rootletin; Ciliary rootlet component, centrosome cohesion
XM_047435135.1 → XP_047291091.1 rootletin isoform X5
XM_047435136.1 → XP_047291092.1 rootletin isoform X6
XM_047435115.1 → XP_047291071.1 rootletin isoform X2
XM_047435117.1 → XP_047291073.1 rootletin isoform X3
XM_047435114.1 → XP_047291070.1 rootletin isoform X1