Seroatlas · Human Serome Atlas

FILIP1

Filamin-A-interacting protein 1

Also known as: FILIP, FLIP1_HUMAN, KIAA1275

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q7Z7B0
Gene: FILIP1
Ensembl: ENSG00000118407
Chromosome: 6
Canonical length: 1213 aa
Protein class: Predicted intracellular proteins
Subcellular location: Plasma membrane,Actin filaments

OverviewNCBI Gene

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 length and altered excitatory signaling. [provided by RefSeq, Oct 2016]

Canonical amino-acid sequenceUniProt

1213 residues, UniProt reviewed canonical sequence.

>Q7Z7B0|FILIP1
     1  MRSRNQGGES ASDGHISCPK PSIIGNAGEK SLSEDAKKKK KSNRKEDDVM ASGTVKRHLK
    61  TSGECERKTK KSLELSKEDL IQLLSIMEGE LQAREDVIHM LKTEKTKPEV LEAHYGSAEP
   121  EKVLRVLHRD AILAQEKSIG EDVYEKPISE LDRLEEKQKE TYRRMLEQLL LAEKCHRRTV
   181  YELENEKHKH TDYMNKSDDF TNLLEQERER LKKLLEQEKA YQARKEKENA KRLNKLRDEL
   241  VKLKSFALML VDERQMHIEQ LGLQSQKVQD LTQKLREEEE KLKAITSKSK EDRQKLLKLE
   301  VDFEHKASRF SQEHEEMNAK LANQESHNRQ LRLKLVGLTQ RIEELEETNK NLQKAEEELQ
   361  ELRDKIAKGE CGNSSLMAEV ENLRKRVLEM EGKDEEITKT ESQCRELRKK LQEEEHHSKE
   421  LRLEVEKLQK RMSELEKLEE AFSKSKSECT QLHLNLEKEK NLTKDLLNEL EVVKSRVKEL
   481  ECSESRLEKA ELSLKDDLTK LKSFTVMLVD ERKNMMEKIK QEERKVDGLN KNFKVEQGKV
   541  MDVTEKLIEE SKKLLKLKSE MEEKVYNLTR ERDELIGKLK SEEEKSSELS CSVDLLKKRL
   601  DGIEEVEREI TRGRSRKGSE LTCPEDNKIK ELTLEIERLK KRLQQLEVVE GDLMKTEDEY
   661  DQLEQKFRTE QDKANFLSQQ LEEIKHQIAK NKAIEKGEVV SQEAELRHRF RLEEAKSRDL
   721  KAEVQALKEK IHELMNKEDQ LSQLQVDYSV LQQRFMEEEN KNKNMGQEVL NLTKELELSK
   781  RYSRALRPSV NGRRMVDVPV TSTGVQTDAV SGEAAEEETP AVFIRKSFQE ENHIMSNLRQ
   841  VGLKKPVERS SVLDRYPPAA NELTMRKSWI PWMRKRENGP SITQEKGPRT NSSPGHPGEV
   901  VLSPKQGQPL HIRVTPDHEN STATLEITSP TSEEFFSSTT VIPTLGNQKP RITIIPSPNV
   961  MPQKQKSGDT TLGPERAMSP VTITTFSREK TPESGRGAFA DRPTSPIQIM TVSTSAAPAE
  1021  IAVSPESQEM PMGRTILKVT PEKQTVPTPV RKYNSNANII TTEDNKIHIH LGSQFKRSPG
  1081  TSGEGVSPVI TVRPVNVTAE KEVSTGTVLR SPRNHLSSRP GASKVTSTIT ITPVTTSSAR
  1141  GTQSVSGQDG SSQRPTPTRI PMSKGMKAGK PVVAAPGAGN LTKFEPRAET QSMKIELKKS
  1201  AASSTTSLGG GKG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FILIP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.58
Highest tissue expression: 50 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 50 nTPM
tongue: 46 nTPM
skeletal muscle: 34 nTPM
smooth muscle: 12 nTPM
blood vessel: 12 nTPM
parathyroid gland: 12 nTPM

Single-cell type

myonuclei: 1,224 nCPM
thymic myoid cells: 733 nCPM
cardiomyocytes: 728 nCPM
smooth muscle cells: 654 nCPM
corticotrophs: 341 nCPM
vascular smooth muscle cells: 319 nCPM

Immune cell

neutrophil: 0.2 nTPM
basophil: 0.1 nTPM
naive B-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
non-classical monocyte: 0.1 nTPM
plasmacytoid DC: 0.1 nTPM

Brain region

hippocampal formation: 11 nTPM
cerebral cortex: 8.6 nTPM
basal ganglia: 5.8 nTPM
white matter: 5.2 nTPM
amygdala: 4.8 nTPM
hypothalamus: 3.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FILIP1.

Disease | AllUniProt

Conditions FILIP1 is implicated in, by any mechanism.

Neuromuscular disorder, congenital, with dysmorphic facies (NMDF) MIM:620775

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 187 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neuromuscular disorder, congenital, with dysmorphic facies

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.7
gnomAD pLI: 0
gnomAD missense Z: 1.04
DepMap mean gene effect: 0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FILIP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FILIP1 as an antibody target. Whether an autoantibody or antibody against FILIP1 could matter depends on whether native FILIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FILIP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FILIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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