FERRY3

Protein identityUniProt · HPA

UniProt accession

Q9NQ89

Gene

FERRY3

Ensembl

ENSG00000047621

Chromosome

12

Canonical length

552 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nuclear bodies

OverviewNCBI Gene

This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

552 residues, UniProt reviewed canonical sequence.

>Q9NQ89|FERRY3
     1  MKKNRERFCN REREFVYKFK VGSQCLELRV PLKFPVQENA SHLHGRLMLL HSLPCFIEKD
    61  LKEALTQFIE EESLSDYDRD AEASLAAVKS GEVDLHQLAS TWAKAYAETT LEHARPEEPS
   121  WDEDFADVYH DLIHSPASET LLNLEHNYFV SISELIGERD VELKKLRERQ GIEMEKVMQE
   181  LGKSLTDQDV NSLAAQHFES QQDLENKWSN ELKQSTAIQK QEYQEWVIKL HQDLKNPNNS
   241  SLSEEIKVQP SQFRESVEAI GRIYEEQRKL EESFTIHLGA QLKTMHNLRL LRADMLDFCK
   301  HKRNHRSGVK LHRLQTALSL YSTSLCGLVL LVDNRINSYS GIKRDFATVC QECTDFHFPR
   361  IEEQLEVVQQ VVLYARTQRR SKLKESLDSG NQNGGNDDKT KNAERNYLNV LPGEFYITRH
   421  SNLSEIHVAF HLCVDDHVKS GNITARDPAI MGLRNILKVC CTHDITTISI PLLLVHDMSE
   481  EMTIPWCLRR AELVFKCVKG FMMEMASWDG GISRTVQFLV PQSISEEMFY QLSNMLPQIF
   541  RVSSTLTLTS KH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FERRY3 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)

0.34

Highest tissue expression

10 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FERRY3.

Disease | AllUniProt

Conditions FERRY3 is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal recessive 66 (MRT66) MIM:618221

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 52 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, autosomal recessive 66
• Attention deficit hyperactivity disorder
• Intellectual disability
• Hypotonia
• C12orf4-related disorder

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)

0.67

gnomAD pLI

0

DepMap mean gene effect

0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• regulation of mast cell degranulation

Cellular components

• cytoplasm
• early endosome
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Ferry endosomal RAB5 effector complex subunit 3
• Ferry endosomal RAB5 effector complex subunit 3

KeywordsUniProt

• Cytoplasm
• Endosome
• Intellectual disability

InteractionsUniProt · HPA

Protein binding partners of FERRY3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PPP1R21