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	63979
Gene name	Fidgetin like 1
Gene symbol	FIGNL1
Synonyms (NCBI Gene)	-
Chromosome	7
Chromosome location	7p12.2
Summary	This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombination. This protein has also been shown to localize to

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028035	hsa-miR-93-5p	Sequencing	20371350
MIRT573961	hsa-miR-6507-5p	PAR-CLIP	20371350
MIRT573960	hsa-miR-4661-5p	PAR-CLIP	20371350
MIRT573959	hsa-miR-4491	PAR-CLIP	20371350
MIRT573958	hsa-miR-4657	PAR-CLIP	20371350
MIRT573957	hsa-miR-299-3p	PAR-CLIP	20371350
MIRT573956	hsa-miR-6719-3p	PAR-CLIP	20371350
MIRT573955	hsa-miR-4529-5p	PAR-CLIP	20371350
MIRT573954	hsa-miR-663b	PAR-CLIP	20371350
MIRT573953	hsa-miR-3653-3p	PAR-CLIP	20371350
MIRT573951	hsa-miR-3187-3p	PAR-CLIP	20371350
MIRT573952	hsa-miR-7108-5p	PAR-CLIP	20371350
MIRT573950	hsa-miR-3658	PAR-CLIP	20371350
MIRT573961	hsa-miR-6507-5p	PAR-CLIP	20371350
MIRT573960	hsa-miR-4661-5p	PAR-CLIP	20371350
MIRT573959	hsa-miR-4491	PAR-CLIP	20371350
MIRT573958	hsa-miR-4657	PAR-CLIP	20371350
MIRT573957	hsa-miR-299-3p	PAR-CLIP	20371350
MIRT573956	hsa-miR-6719-3p	PAR-CLIP	20371350
MIRT573955	hsa-miR-4529-5p	PAR-CLIP	20371350
MIRT573954	hsa-miR-663b	PAR-CLIP	20371350
MIRT573953	hsa-miR-3653-3p	PAR-CLIP	20371350
MIRT573951	hsa-miR-3187-3p	PAR-CLIP	20371350
MIRT573952	hsa-miR-7108-5p	PAR-CLIP	20371350
MIRT573950	hsa-miR-3658	PAR-CLIP	20371350
MIRT996796	hsa-miR-105	CLIP-seq
MIRT996797	hsa-miR-1229	CLIP-seq
MIRT996798	hsa-miR-1245b-3p	CLIP-seq
MIRT996799	hsa-miR-1298	CLIP-seq
MIRT996800	hsa-miR-188-3p	CLIP-seq
MIRT996801	hsa-miR-324-5p	CLIP-seq
MIRT996802	hsa-miR-3670	CLIP-seq
MIRT996803	hsa-miR-3671	CLIP-seq
MIRT996804	hsa-miR-375	CLIP-seq
MIRT996805	hsa-miR-4787-3p	CLIP-seq
MIRT996806	hsa-miR-548u	CLIP-seq
MIRT996807	hsa-miR-577	CLIP-seq
MIRT996808	hsa-miR-607	CLIP-seq
MIRT996809	hsa-miR-124	CLIP-seq
MIRT996810	hsa-miR-1324	CLIP-seq
MIRT996811	hsa-miR-4659a-3p	CLIP-seq
MIRT996812	hsa-miR-4659b-3p	CLIP-seq
MIRT996813	hsa-miR-506	CLIP-seq
MIRT996806	hsa-miR-548u	CLIP-seq
MIRT996807	hsa-miR-577	CLIP-seq
MIRT996798	hsa-miR-1245b-3p	CLIP-seq
MIRT1995584	hsa-miR-34b	CLIP-seq
MIRT1995585	hsa-miR-4495	CLIP-seq
MIRT1995586	hsa-miR-4668-3p	CLIP-seq
MIRT1995587	hsa-miR-4705	CLIP-seq
MIRT996796	hsa-miR-105	CLIP-seq
MIRT996800	hsa-miR-188-3p	CLIP-seq
MIRT2229624	hsa-miR-3163	CLIP-seq
MIRT996801	hsa-miR-324-5p	CLIP-seq
MIRT2229625	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000228	Component	Nuclear chromosome	IDA	23754376
GO:0000287	Function	Magnesium ion binding	ISS
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0005515	Function	Protein binding	IPI	23754376, 25416956, 26496610, 31665741, 32296183, 37347663, 38286805
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007140	Process	Male meiotic nuclear division	ISS
GO:0008568	Function	Microtubule severing ATPase activity	IBA
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IDA	23754376
GO:0016787	Function	Hydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	ISS
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0033687	Process	Osteoblast proliferation	IEA
GO:0033687	Process	Osteoblast proliferation	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0046034	Process	ATP metabolic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0051013	Process	Microtubule severing	IBA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071479	Process	Cellular response to ionizing radiation	IDA	23754376
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
615383	13286	ENSG00000132436

Q6PIW4

Protein name

Fidgetin-like protein 1 (EC 3.6.4.-)

Protein function

Involved in DNA double-strand break (DBS) repair via homologous recombination (HR). Recruited at DSB sites independently of BRCA2, RAD51 and RAD51 paralogs in a H2AX-dependent manner. May regulate osteoblast proliferation and differentiation (Pu

PDB

3D8B , 8R64

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00004	AAA	437 → 567	ATPase family associated with various cellular activities (AAA)	Domain
PF09336	Vps4_C	625 → 671	Vps4 C terminal oligomerisation domain	Domain

Sequence

MQTSSSRSVHLSEWQKNYFAITSGICTGPKADAYRAQILRIQYAWANSEISQVCATKLFK
KYAEKYSAIIDSDNVESGLNNYAENILTLAGSQQTDSDKWQSGLSINNVFKMSSVQKMMQ
AGKKFKDSLLEPALASVVIHKEATVFDLPKFSVCGSSQESDSLPNSAHDRDRTQDFPESN
RLKLLQNAQPPMVTNTARTCPTFSAPVGESATAKFHVTPLFGNVKKENHSSAKENIGLNV
FLSNQSCFPAACENPQRKSFYGSGTIDALSNPILNKACSKTEDNGPKEDSSLPTFKTAKE
QLWVDQQKKYHQPQRASGSSYGGVKKSLGASRSRGILGKFVPPIPKQDGGEQNGGMQCKP
YGAGPTEPAHPVDERLKNLEPKMIELIMNEIMDHGPPVNWEDIAGVEFAKATIKEIVVWP
MLRPDIFTGLRGPPKGILLFGPPGTGKTLIGKCIASQSGATFFSISASSLTSKWVGEGEK
MVRALFAVARCQQPAVIFIDEIDSLLSQRGDGEHESSRRIKTEFLVQLDGATTSSEDRIL
VVGATNRPQEIDEAARRRLVKRLYIPLPEASARKQIVINLMSKEQCCLSEEEIEQIVQQS
DAFSGADMTQLCREASLGPIRSLQTADIATITPDQVRPIAYIDFENAFRTVRPSVSPKDL
ELYENWNKTFGCGK

Sequence length

674

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 (1)

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.
KIDNEY NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ 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
Deficiency of aromatic-L-amino-acid decarboxylase	Deficiency Of Aromatic-L-Amino-Acid Decarboxylase	CLINVAR_DG	15079002, 17240182, 20505134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	CTD_human_DG	28321044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	29696386	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	CTD_human_DG	28321044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASDB_DG	19684603, 23512250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	22076464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28260065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28260065	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FIGNL1 (fidgetin like 1)