FNBP4
Formin-binding protein 4
Also known as: FNBP4_HUMAN, KIAA1014
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N3X1
- Gene
- FNBP4
- Ensembl
- ENSG00000109920
- Chromosome
- 11
- Canonical length
- 1017 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]
Canonical amino-acid sequenceUniProt
1017 residues, UniProt reviewed canonical sequence.
>Q8N3X1|FNBP4
1 MGKKSRAVPG RRPILQLSPP GPRGSTPGRD PEPEPDTEPD STAAVPSQPA PSAATTTTTA
61 VTAAAASDDS PSEDEQEAVQ EVPRVVQNPP KPVMTTRPTA VKATGGLCLL GAYADSDDDD
121 NDVSEKLAQS KETNGNQSTD IDSTLANFLA EIDAITAPQP AAPVGASAPP PTPPRPEPKE
181 AATSTLSSST SNGTDSTQTS GWQYDTQCSL AGVGIEMGDW QEVWDENTGC YYYWNTQTNE
241 VTWELPQYLA TQVQGLQHYQ PSSVPGAETS FVVNTDIYSK EKTISVSSSK SGPVIAKREV
301 KKEVNEGIQA LSNSEEEKKG VAASLLAPLL PEGIKEEEER WRRKVICKEE PVSEVKETST
361 TVEEATTIVK PQEIMLDNIE DPSQEDLCSV VQSGESEEEE EQDTLELELV LERKKAELRA
421 LEEGDGSVSG SSPRSDISQP ASQDGMRRLM SKRGKWKMFV RATSPESTSR SSSKTGRDTP
481 ENGETAIGAE NSEKIDENSD KEMEVEESPE KIKVQTTPKV EEEQDLKFQI GELANTLTSK
541 FEFLGINRQS ISNFHVLLLQ TETRIADWRE GALNGNYLKR KLQDAAEQLK QYEINATPKG
601 WSCHWDRDHR RYFYVNEQSG ESQWEFPDGE EEEEESQAQE NRDETLAKQT LKDKTGTDSN
661 STESSETSTG SLCKESFSGQ VSSSSLMPLT PFWTLLQSNV PVLQPPLPLE MPPPPPPPPE
721 SPPPPPPPPP PAEDGEIQEV EMEDEGSEEP PAPGTEEDTP LKPSAQTTVV TSQSSVDSTI
781 SSSSSTKGIK RKATEISTAV VQRSATIGSS PVLYSQSAIA TGHQAAGIGN QATGIGHQTI
841 PVSLPAAGMG HQARGMSLQS NYLGLAAAPA IMSYAECSVP IGVTAPSLQP VQARGAVPTA
901 TIIEPPPPPP PPPPPPPPAP KMPPPEKTKK GRKDKAKKSK TKMPSLVKKW QSIQRELDEE
961 DNSSSSEEDR ESTAQKRIEE WKQQQLVSGM AERNANFEAL PEDWRARLKR RKMAPNTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FNBP4 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)
- 0.64
- Highest tissue expression
- 46 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 46 nTPM
- spleen: 46 nTPM
- ovary: 44 nTPM
- cerebellum: 43 nTPM
- cervix: 41 nTPM
- thyroid gland: 39 nTPM
Single-cell type
- microglia: 157 nCPM
- podocytes: 154 nCPM
- bergmann glia: 148 nCPM
- oligodendrocytes: 147 nCPM
- choroid plexus epithelial cells: 145 nCPM
- oligodendrocyte progenitor cells: 145 nCPM
Immune cell
- plasmacytoid DC: 5.6 nTPM
- naive B-cell: 5.4 nTPM
- memory B-cell: 5.1 nTPM
- T-reg: 4 nTPM
- basophil: 3.8 nTPM
- gdT-cell: 3.7 nTPM
Brain region
- cerebellum: 19 nTPM
- choroid plexus: 16 nTPM
- white matter: 14 nTPM
- hypothalamus: 12 nTPM
- thalamus: 12 nTPM
- cerebral cortex: 11 nTPM
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)
- 0.14
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.39
- DepMap mean gene effect
- -0.54
- DepMap dependency class
- common
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
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WW domain
- WW domain superfamily
- WW domain
- WW domain-containing protein
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FNBP4 as an antibody target. Whether an autoantibody or antibody against FNBP4 could matter depends on whether native FNBP4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FNBP4 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 FNBP4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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