Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9696
Gene name	Ciliary rootlet coiled-coil, rootletin
Gene symbol	CROCC
Synonyms (NCBI Gene)	CROCC1ROLTTAX1BP2
Chromosome	1
Chromosome location	1p36.13

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments
MIRT910429	hsa-miR-1915	CLIP-seq
MIRT910430	hsa-miR-331-3p	CLIP-seq
MIRT910431	hsa-miR-339-5p	CLIP-seq
MIRT910432	hsa-miR-4269	CLIP-seq
MIRT910433	hsa-miR-4645-5p	CLIP-seq
MIRT910434	hsa-miR-4673	CLIP-seq
MIRT910435	hsa-miR-4726-3p	CLIP-seq
MIRT1969912	hsa-miR-3928	CLIP-seq
MIRT2205926	hsa-miR-1202	CLIP-seq
MIRT2205927	hsa-miR-3194-5p	CLIP-seq
MIRT2205928	hsa-miR-3972	CLIP-seq
MIRT2205929	hsa-miR-4530	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005198	Function	Structural molecule activity	ISS
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	18086858, 30404835, 31974111
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614, 31974111
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	24421332
GO:0005814	Component	Centriole	IEA
GO:0005814	Component	Centriole	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IEA
GO:0007098	Process	Centrosome cycle	IBA
GO:0007098	Process	Centrosome cycle	IDA	16203858
GO:0008104	Process	Intracellular protein localization	IMP	18086858
GO:0010457	Process	Centriole-centriole cohesion	IMP	24554434
GO:0010669	Process	Epithelial structure maintenance	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0019725	Process	Cellular homeostasis	IEA
GO:0019894	Function	Kinesin binding	IEA
GO:0019894	Function	Kinesin binding	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0032053	Process	Ciliary basal body organization	IEA
GO:0033365	Process	Protein localization to organelle	IMP	24554434
GO:0035253	Component	Ciliary rootlet	IEA
GO:0035253	Component	Ciliary rootlet	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045724	Process	Positive regulation of cilium assembly	IMP	27623382
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051656	Process	Establishment of organelle localization	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097386	Component	Glial cell projection	IEA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120219	Component	Subapical part of cell	IEA
GO:1903566	Process	Positive regulation of protein localization to cilium	IMP	27623382

MIM	HGNC	e!Ensembl
615776	21299	ENSG00000058453

Q5TZA2

Protein name

Rootletin (Ciliary rootlet coiled-coil protein)

Protein function

Major structural component of the ciliary rootlet, a cytoskeletal-like structure in ciliated cells which originates from the basal body at the proximal end of a cilium and extends proximally toward the cell nucleus (By similarity). Furthermore,

PDB

6L5H , 6L5J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15035	Rootletin	156 → 334		Family

Sequence

MSLGLARAQEVELTLETVIQTLESSVLCQEKGLGARDLAQDAQITSLPALIREIVTRNLS
QPESPVLLPATEMASLLSLQEENQLLQQELSRVEDLLAQSRAERDELAIKYNAVSERLEQ
ALRLEPGELETQEPRGLVRQSVELRRQLQEEQASYRRKLQAYQEGQQRQAQLVQRLQGKI
LQYKKRCSELEQQLLERSGELEQQRLRDTEHSQDLESALIRLEEEQQRSASLAQVNAMLR
EQLDQAGSANQALSEDIRKVTNDWTRCRKELEHREAAWRREEESFNAYFSNEHSRLLLLW
RQVVGFRRLVSEVKMFTERDLLQLGGELARTSRAVQEAGLGLSTGLRLAESRAEAALEKQ
ALLQAQLEEQLRDKVLREKDLAQQQMQSDLDKADLSARVTELGLAVKRLEKQNLEKDQVN
KDLTEKLEALESLRLQEQAALETEDGEGLQQTLRDLAQAVLSDSESGVQLSGSERTADAS
NGSLRGLSGQRTPSPPRRSSPGRGRSPRRGPSPACSDSSTLALIHSALHKRQLQVQDMRG
RYEASQDLLGTLRKQLSDSESERRALEEQLQRLRDKTDGAMQAHEDAQREVQRLRSANEL
LSREKSNLAHSLQVAQQQAEELRQEREKLQAAQEELRRQRDRLEEEQEDAVQDGARVRRE
LERSHRQLEQLEGKRSVLAKELVEVREALSRATLQRDMLQAEKAEVAEALTKAEAGRVEL
ELSMTKLRAEEASLQDSLSKLSALNESLAQDKLDLNRLVAQLEEEKSALQGRQRQAEQEA
TVAREEQERLEELRLEQEVARQGLEGSLRVAEQAQEALEQQLPTLRHERSQLQEQLAQLS
RQLSGREQELEQARREAQRQVEALERAAREKEALAKEHAGLAVQLVAAEREGRTLSEEAT
RLRLEKEALEGSLFEVQRQLAQLEARREQLEAEGQALLLAKETLTGELAGLRQQIIATQE
KASLDKELMAQKLVQAEREAQASLREQRAAHEEDLQRLQREKEAAWRELEAERAQLQSQL
QREQEELLARLEAEKEELSEEIAALQQERDEGLLLAESEKQQALSLKESEKTALSEKLMG
TRHSLATISLEMERQKRDAQSRQEQDRSTVNALTSELRDLRAQREEAAAAHAQEVRRLQE
QARDLGKQRDSCLREAEELRTQLRLLEDARDGLRRELLEAQRKLRESQEGREVQRQEAGE
LRRSLGEGAKEREALRRSNEELRSAVKKAESERISLKLANEDKEQKLALLEEARTAVGKE
AGELRTGLQEVERSRLEARRELQELRRQMKMLDSENTRLGRELAELQGRLALGERAEKES
RRETLGLRQRLLKGEASLEVMRQELQVAQRKLQEQEGEFRTRERRLLGSLEEARGTEKQQ
LDHARGLELKLEAARAEAAELGLRLSAAEGRAQGLEAELARVEVQRRAAEAQLGGLRSAL
RRGLGLGRAPSPAPRPVPGSPARDAPAEGSGEGLNSPSTLECSPGSQPPSPGPATSPASP
DLDPEAVRGALREFLQELRSAQRERDELRTQTSALNRQLAEMEAERDSATSRARQLQKAV
AESEEARRSVDGRLSGVQAELALQEESVRRSERERRATLDQVATLERSLQATESELRASQ
EKISKMKANETKLEGDKRRLKEVLDASESRTVKLELQRRSLEGELQRSRLGLSDREAQAQ
ALQDRVDSLQRQVADSEVKAGTLQLTVERLNGALAKVEESEGALRDKVRGLTEALAQSSA
SLNSTRDKNLHLQKALTACEHDRQVLQERLDAARQALSEARKQSSSLGEQVQTLRGEVAD
LELQRVEAEGQLQQLREVLRQRQEGEAAALNTVQKLQDERRLLQERLGSLQRALAQLEAE
KREVERSALRLEKDRVALRRTLDKVEREKLRSHEDTVRLSAEKGRLDRTLTGAELELAEA
QRQIQQLEAQVVVLEQSHSPAQLEVDAQQQQLELQQEVERLRSAQAQTERTLEARERAHR
QRVRGLEEQVSTLKGQLQQELRRSSAPFSPPSGPPEK

Sequence length

2017

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTATOR CUFF TEAR	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29784668, 37239344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	31799620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22610972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	27872140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27872140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	31799620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22610972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	28041643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	29784668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	29784668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CROCC (ciliary rootlet coiled-coil, rootletin)