NXN

Protein identityUniProt · HPA

UniProt accession

Q6DKJ4

Gene

NXN

Ensembl

ENSG00000167693

Chromosome

17

Canonical length

435 aa

Protein class

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

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]

Canonical amino-acid sequenceUniProt

435 residues, UniProt reviewed canonical sequence.

>Q6DKJ4|NXN
     1  MSGFLEELLG EKLVTGGGEE VDVHSLGARG ISLLGLYFGC SLSAPCAQLS ASLAAFYGRL
    61  RGDAAAGPGP GAGAGAAAEP EPRRRLEIVF VSSDQDQRQW QDFVRDMPWL ALPYKEKHRK
   121  LKLWNKYRIS NIPSLIFLDA TTGKVVCRNG LLVIRDDPEG LEFPWGPKPF REVIAGPLLR
   181  NNGQSLESSS LEGSHVGVYF SAHWCPPCRS LTRVLVESYR KIKEAGQNFE IIFVSADRSE
   241  ESFKQYFSEM PWLAVPYTDE ARRSRLNRLY GIQGIPTLIM LDPQGEVITR QGRVEVLNDE
   301  DCREFPWHPK PVLELSDSNA AQLNEGPCLV LFVDSEDDGE SEAAKQLIQP IAEKIIAKYK
   361  AKEEEAPLLF FVAGEDDMTD SLRDYTNLPE AAPLLTILDM SARAKYVMDV EEITPAIVEA
   421  FVNDFLAEKL KPEPI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NXN 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)

0.27

Highest tissue expression

95 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NXN.

Disease | AllUniProt

Conditions NXN is implicated in, by any mechanism.

• Robinow syndrome, autosomal recessive 2 (RRS2) MIM:618529

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 265 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Robinow syndrome, autosomal recessive 2
• Distal shortening of limbs

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)

0.22

gnomAD pLI

1

gnomAD missense Z

2.18

DepMap mean gene effect

0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• circulatory system development
• in utero embryonic development
• negative regulation of protein ubiquitination
• negative regulation of Wnt signaling pathway
• Wnt signaling pathway

Molecular functions

• thioredoxin-disulfide reductase (NADPH) activity

Cellular components

• cytosol
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Thioredoxin-like fold
• Thioredoxin domain
• Thioredoxin-like superfamily
• Thioredoxin-like domain
• Thioredoxin-like
• Nucleoredoxin, redox inactive TRX-like domain b'
• TryX and NRX, thioredoxin domain

KeywordsUniProt

• Acetylation
• Cytoplasm
• Developmental protein
• Differentiation
• Dwarfism
• NAD
• Nucleus
• Oxidoreductase
• Wnt signaling pathway

InteractionsUniProt · HPA

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

• DVL1
• PPP2CA