• Gene id: 27145

Gene Summary

• Gene Symbol: FILIP1   Gene   UCSC   Ensembl
• Aliases: FILIP
• Gene name: filamin A interacting protein 1
• Alternate names: filamin-A-interacting protein 1,
• Gene location: 6q14.1 (75493799: 75291857)     Exons: 6     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 607307

Protein Summary

• Protein general information: Q7Z7B0  
  • Name: Filamin A interacting protein 1 (FILIP)
  • Length: 1213  
  • Mass: 138109
  • 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:

  MRSRNQGGESASDGHISCPKPSIIGNAGEKSLSEDAKKKKKSNRKEDDVMASGTVKRHLKTSGECERKTKKSLEL
  SKEDLIQLLSIMEGELQAREDVIHMLKTEKTKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISE
  LDRLEEKQKETYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQEKAYQARK
  EKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLREEEEKLKAITSKSKEDRQKLLKLE
  VDFEHKASRFSQEHEEMNAKLANQESHNRQLRLKLVGLTQRIEELEETNKNLQKAEEELQELRDKIAKGECGNSS
  LMAEVENLRKRVLEMEGKDEEITKTESQCRELRKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSKSKSECT
  QLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVMLVDERKNMMEKIKQEERK
  VDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKVYNLTRERDELIGKLKSEEEKSSELSCSVDLLKKRL
  DGIEEVEREITRGRSRKGSELTCPEDNKIKELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKAN
  FLSQQLEEIKHQIAKNKAIEKGEVVSQEAELRHRFRLEEAKSRDLKAEVQALKEKIHELMNKEDQLSQLQVDYSV
  LQQRFMEEENKNKNMGQEVLNLTKELELSKRYSRALRPSVNGRRMVDVPVTSTGVQTDAVSGEAAEEETPAVFIR
  KSFQEENHIMSNLRQVGLKKPVERSSVLDRYPPAANELTMRKSWIPWMRKRENGPSITQEKGPRTNSSPGHPGEV
  VLSPKQGQPLHIRVTPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMPQKQKSGDTTLGPE
  RAMSPVTITTFSREKTPESGRGAFADRPTSPIQIMTVSTSAAPAEIAVSPESQEMPMGRTILKVTPEKQTVPTPV
  RKYNSNANIITTEDNKIHIHLGSQFKRSPGTSGEGVSPVITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKV
  TSTITITPVTTSSARGTQSVSGQDGSSQRPTPTRIPMSKGMKAGKPVVAAPGAGNLTKFEPRAETQSMKIELKKS
  AASSTTSLGGGKG

• Structural information:
  • Interpro: IPR019131  
  • STRING: ENSP00000237172
• Other Databases: GeneCards:  FILIP1  Malacards:  FILIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray