FILIP1 (filamin A interacting protein 1)

Gene

• Entrez ID: 27145
• Gene name: Filamin A interacting protein 1
• Gene symbol: FILIP1
• Synonyms (NCBI Gene): FILIP, NMDF
• Chromosome: 6
• Chromosome location: 6q14.1
• Summary: This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024001	hsa-miR-1-3p	Microarray	18668037
MIRT996894	hsa-miR-186	CLIP-seq
MIRT996895	hsa-miR-2054	CLIP-seq
MIRT996896	hsa-miR-3133	CLIP-seq
MIRT996897	hsa-miR-3180-5p	CLIP-seq
MIRT739795	hsa-miR-3190	CLIP-seq
MIRT739793	hsa-miR-323-3p	CLIP-seq
MIRT996898	hsa-miR-338-3p	CLIP-seq
MIRT996899	hsa-miR-4422	CLIP-seq
MIRT996900	hsa-miR-4495	CLIP-seq
MIRT996901	hsa-miR-4511	CLIP-seq
MIRT996902	hsa-miR-4530	CLIP-seq
MIRT996903	hsa-miR-4666-5p	CLIP-seq
MIRT996904	hsa-miR-4760-3p	CLIP-seq
MIRT739792	hsa-miR-513a-3p	CLIP-seq
MIRT996905	hsa-miR-548a-5p	CLIP-seq
MIRT996906	hsa-miR-548ab	CLIP-seq
MIRT996907	hsa-miR-548ak	CLIP-seq
MIRT996908	hsa-miR-548b-5p	CLIP-seq
MIRT996909	hsa-miR-548c-5p	CLIP-seq
MIRT996910	hsa-miR-548d-5p	CLIP-seq
MIRT996911	hsa-miR-548h	CLIP-seq
MIRT996912	hsa-miR-548i	CLIP-seq
MIRT996913	hsa-miR-548j	CLIP-seq
MIRT996914	hsa-miR-548k	CLIP-seq
MIRT996915	hsa-miR-548l	CLIP-seq
MIRT996916	hsa-miR-548w	CLIP-seq
MIRT996917	hsa-miR-548y	CLIP-seq
MIRT996918	hsa-miR-559	CLIP-seq
MIRT996919	hsa-miR-583	CLIP-seq
MIRT739794	hsa-miR-624	CLIP-seq
MIRT996920	hsa-miR-654-3p	CLIP-seq
MIRT996894	hsa-miR-186	CLIP-seq
MIRT996896	hsa-miR-3133	CLIP-seq
MIRT996900	hsa-miR-4495	CLIP-seq
MIRT996901	hsa-miR-4511	CLIP-seq
MIRT996903	hsa-miR-4666-5p	CLIP-seq
MIRT2533545	hsa-miR-340	CLIP-seq
MIRT2533546	hsa-miR-4259	CLIP-seq
MIRT2533547	hsa-miR-4715-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099010	Process	Modification of postsynaptic structure	IEA
GO:1903119	Process	Protein localization to actin cytoskeleton	IBA

Other IDs

• MIM: 607307
• HGNC: 21015
• e!Ensembl: ENSG00000118407

Protein

• UniProt ID: Q7Z7B0
• Protein name: Filamin-A-interacting protein 1 (FILIP)
• Protein function: By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09727	CortBP2	71 → 256	Cortactin-binding protein-2	Family

• Tissue specificity: TISSUE SPECIFICITY: Moderately expressed in adult heart and brain. Weakly expressed in lung, skeletal muscle, ovary, testis, kidney, and fetal brain, and hardly detectable in liver, pancreas, spleen, and fetal liver. Within brain, moderate expression is f
• Sequence:

  MRSRNQGGESASDGHISCPKPSIIGNAGEKSLSEDAKKKKKSNRKEDDVMASGTVKRHLK
  TSGECERKTKKSLELSKEDLIQLLSIMEGELQAREDVIHMLKTEKTKPEVLEAHYGSAEP
  EKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKETYRRMLEQLLLAEKCHRRTV
  YELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQEKAYQARKEKENAKRLNKLRDEL
  VKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITSKSKEDRQKLLKLE
  VDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLTQRIEELEETNKNLQKAEEELQ
  ELRDKIAKGECGNSSLMAEVENLRKRVLEMEGKDEEITKTESQCRELRKKLQEEEHHSKE
  LRLEVEKLQKRMSELEKLEEAFSKSKSECTQLHLNLEKEKNLTKDLLNELEVVKSRVKEL
  ECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERKVDGLNKNFKVEQGKV
  MDVTEKLIEESKKLLKLKSEMEEKVYNLTRERDELIGKLKSEEEKSSELSCSVDLLKKRL
  DGIEEVEREITRGRSRKGSELTCPEDNKIKELTLEIERLKKRLQQLEVVEGDLMKTEDEY
  DQLEQKFRTEQDKANFLSQQLEEIKHQIAKNKAIEKGEVVSQEAELRHRFRLEEAKSRDL
  KAEVQALKEKIHELMNKEDQLSQLQVDYSVLQQRFMEEENKNKNMGQEVLNLTKELELSK
  RYSRALRPSVNGRRMVDVPVTSTGVQTDAVSGEAAEEETPAVFIRKSFQEENHIMSNLRQ
  VGLKKPVERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSITQEKGPRTNSSPGHPGEV
  VLSPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNV
  MPQKQKSGDTTLGPERAMSPVTITTFSREKTPESGRGAFADRPTSPIQIMTVSTSAAPAE
  IAVSPESQEMPMGRTILKVTPEKQTVPTPVRKYNSNANIITTEDNKIHIHLGSQFKRSPG
  TSGEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKVTSTITITPVTTSSAR
  GTQSVSGQDGSSQRPTPTRIPMSKGMKAGKPVVAAPGAGNLTKFEPRAETQSMKIELKKS
  AASSTTSLGGGKG

• Sequence length: 1213

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neuromuscular disorder, congenital, with dysmorphic facies	Pathogenic	rs2534042345, rs775141616, rs779350691, rs763126633	RCV003991497 RCV003991498 RCV003991500 RCV003991501	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS OF HIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthrogryposis	Arthrogryposis	Pubtator	36943452	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37163662	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22561202		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	GWASDB_DG	22019778		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	36943452	Associate	★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	37163662	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	CTD_human_DG	30374069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069, 30664745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations