SFXN4

Protein identityUniProt · HPA

UniProt accession

Q6P4A7

Gene

SFXN4

Ensembl

ENSG00000183605

Chromosome

10

Canonical length

337 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Vesicles,Mitochondria

OverviewNCBI Gene

This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]

Canonical amino-acid sequenceUniProt

337 residues, UniProt reviewed canonical sequence.

>Q6P4A7|SFXN4
     1  MSLEQEEETQ PGRLLGRRDA VPAFIEPNVR FWITERQSFI RRFLQWTELL DPTNVFISVE
    61  SIENSRQLLC TNEDVSSPAS ADQRIQEAWK RSLATVHPDS SNLIPKLFRP AAFLPFMAPT
   121  VFLSMTPLKG IKSVILPQVF LCAYMAAFNS INGNRSYTCK PLERSLLMAG AVASSTFLGV
   181  IPQFVQMKYG LTGPWIKRLL PVIFLVQASG MNVYMSRSLE SIKGIAVMDK EGNVLGHSRI
   241  AGTKAVRETL ASRIVLFGTS ALIPEVFTYF FKRTQYFRKN PGSLWILKLS CTVLAMGLMV
   301  PFSFSIFPQI GQIQYCSLEE KIQSPTEETE IFYHRGV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SFXN4 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

Other membrane

Secreted

No

Transmembrane segments

5

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

55 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SFXN4.

Disease | AllUniProt

Conditions SFXN4 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 18 (COXPD18) MIM:615578

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 223 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
• Inborn genetic diseases

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)

0.91

gnomAD pLI

0

gnomAD missense Z

0.77

DepMap mean gene effect

0.01

DepMap dependency class

selective

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

• amino acid transport
• mitochondrial transmembrane transport

Molecular functions

• monoatomic ion transmembrane transporter activity
• transmembrane transporter activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Tricarboxylate/iron carrier
• Sideroflexins

KeywordsUniProt

• Acetylation
• Amino-acid transport
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Transmembrane
• Transmembrane helix
• Transport