• Gene id: 9696

Gene Summary

• Gene Symbol: CROCC   Gene   UCSC   Ensembl
• Aliases: ROLT, TAX1BP2
• Gene name: ciliary rootlet coiled-coil, rootletin
• Alternate names: rootletin, Tax1-binding protein 2, ciliary rootlet coiled-coil protein, rootletin, ciliary rootlet protein,
• Gene location: 1p36.13 (16914081: 16972978)     Exons: 39     NC_000001.11
• OMIM: 615475

Protein Summary

• Protein general information: Q5TZA2  
  • Name: Rootletin (Ciliary rootlet coiled coil protein)
  • Length: 2017  
  • Mass: 228523
• Sequence:

  MSLGLARAQEVELTLETVIQTLESSVLCQEKGLGARDLAQDAQITSLPALIREIVTRNLSQPESPVLLPATEMAS
  LLSLQEENQLLQQELSRVEDLLAQSRAERDELAIKYNAVSERLEQALRLEPGELETQEPRGLVRQSVELRRQLQE
  EQASYRRKLQAYQEGQQRQAQLVQRLQGKILQYKKRCSELEQQLLERSGELEQQRLRDTEHSQDLESALIRLEEE
  QQRSASLAQVNAMLREQLDQAGSANQALSEDIRKVTNDWTRCRKELEHREAAWRREEESFNAYFSNEHSRLLLLW
  RQVVGFRRLVSEVKMFTERDLLQLGGELARTSRAVQEAGLGLSTGLRLAESRAEAALEKQALLQAQLEEQLRDKV
  LREKDLAQQQMQSDLDKADLSARVTELGLAVKRLEKQNLEKDQVNKDLTEKLEALESLRLQEQAALETEDGEGLQ
  QTLRDLAQAVLSDSESGVQLSGSERTADASNGSLRGLSGQRTPSPPRRSSPGRGRSPRRGPSPACSDSSTLALIH
  SALHKRQLQVQDMRGRYEASQDLLGTLRKQLSDSESERRALEEQLQRLRDKTDGAMQAHEDAQREVQRLRSANEL
  LSREKSNLAHSLQVAQQQAEELRQEREKLQAAQEELRRQRDRLEEEQEDAVQDGARVRRELERSHRQLEQLEGKR
  SVLAKELVEVREALSRATLQRDMLQAEKAEVAEALTKAEAGRVELELSMTKLRAEEASLQDSLSKLSALNESLAQ
  DKLDLNRLVAQLEEEKSALQGRQRQAEQEATVAREEQERLEELRLEQEVARQGLEGSLRVAEQAQEALEQQLPTL
  RHERSQLQEQLAQLSRQLSGREQELEQARREAQRQVEALERAAREKEALAKEHAGLAVQLVAAEREGRTLSEEAT
  RLRLEKEALEGSLFEVQRQLAQLEARREQLEAEGQALLLAKETLTGELAGLRQQIIATQEKASLDKELMAQKLVQ
  AEREAQASLREQRAAHEEDLQRLQREKEAAWRELEAERAQLQSQLQREQEELLARLEAEKEELSEEIAALQQERD
  EGLLLAESEKQQALSLKESEKTALSEKLMGTRHSLATISLEMERQKRDAQSRQEQDRSTVNALTSELRDLRAQRE
  EAAAAHAQEVRRLQEQARDLGKQRDSCLREAEELRTQLRLLEDARDGLRRELLEAQRKLRESQEGREVQRQEAGE
  LRRSLGEGAKEREALRRSNEELRSAVKKAESERISLKLANEDKEQKLALLEEARTAVGKEAGELRTGLQEVERSR
  LEARRELQELRRQMKMLDSENTRLGRELAELQGRLALGERAEKESRRETLGLRQRLLKGEASLEVMRQELQVAQR
  KLQEQEGEFRTRERRLLGSLEEARGTEKQQLDHARGLELKLEAARAEAAELGLRLSAAEGRAQGLEAELARVEVQ
  RRAAEAQLGGLRSALRRGLGLGRAPSPAPRPVPGSPARDAPAEGSGEGLNSPSTLECSPGSQPPSPGPATSPASP
  DLDPEAVRGALREFLQELRSAQRERDELRTQTSALNRQLAEMEAERDSATSRARQLQKAVAESEEARRSVDGRLS
  GVQAELALQEESVRRSERERRATLDQVATLERSLQATESELRASQEKISKMKANETKLEGDKRRLKEVLDASESR
  TVKLELQRRSLEGELQRSRLGLSDREAQAQALQDRVDSLQRQVADSEVKAGTLQLTVERLNGALAKVEESEGALR
  DKVRGLTEALAQSSASLNSTRDKNLHLQKALTACEHDRQVLQERLDAARQALSEARKQSSSLGEQVQTLRGEVAD
  LELQRVEAEGQLQQLREVLRQRQEGEAAALNTVQKLQDERRLLQERLGSLQRALAQLEAEKREVERSALRLEKDR
  VALRRTLDKVEREKLRSHEDTVRLSAEKGRLDRTLTGAELELAEAQRQIQQLEAQVVVLEQSHSPAQLEVDAQQQ
  QLELQQEVERLRSAQAQTERTLEARERAHRQRVRGLEEQVSTLKGQLQQELRRSSAPFSPPSGPPEK

• Structural information:
  • Interpro: IPR026733  
  • DIP: 61715
  • STRING: ENSP00000364691
• Other Databases: GeneCards:  CROCC  Malacards:  CROCC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0035253	ciliary rootlet	IEA	cellular component
GO:0007098	centrosome cycle	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005814	centriole	IDA	cellular component
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0035253	ciliary rootlet	IEA	cellular component
GO:0010669	epithelial structure maintenance	IEA	biological process
GO:0005198	structural molecule activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0051656	establishment of organelle localization	IEA	biological process
GO:0032053	ciliary basal body organization	IEA	biological process
GO:0019894	kinesin binding	IEA	molecular function
GO:0005814	centriole	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0007098	centrosome cycle	IDA	biological process
GO:0010457	centriole-centriole cohesion	IMP	biological process
GO:0033365	protein localization to organelle	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008104	protein localization	IMP	biological process
GO:0005814	centriole	ISS	cellular component
GO:0045724	positive regulation of cilium assembly	IMP	biological process
GO:1903566	positive regulation of protein localization to cilium	IMP	biological process
GO:0019894	kinesin binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035253	ciliary rootlet	ISS	cellular component
GO:0005198	structural molecule activity	ISS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray