Seroatlas · Human Serome Atlas

NXNL1

Nucleoredoxin-like protein 1

Also known as: NXNL1_HUMAN, RDCVF, TXNL6

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

Protein identityUniProt · HPA

UniProt accession: Q96CM4
Gene: NXNL1
Ensembl: ENSG00000171773
Chromosome: 19
Canonical length: 212 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

212 residues, UniProt reviewed canonical sequence.

>Q96CM4|NXNL1
     1  MASLFSGRIL IRNNSDQDEL DTEAEVSRRL ENRLVLLFFG AGACPQCQAF VPILKDFFVR
    61  LTDEFYVLRA AQLALVYVSQ DSTEEQQDLF LKDMPKKWLF LPFEDDLRRD LGRQFSVERL
   121  PAVVVLKPDG DVLTRDGADE IQRLGTACFA NWQEAAEVLD RNFQLPEDLE DQEPRSLTEC
   181  LRRHKYRVEK AARGGRDPGG GGGEEGGAGG LF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NXNL1 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): 0.37
Highest tissue expression: 60 nTPM

Expression across tissuesHPA

Tissue

retina: 60 nTPM
choroid plexus: 26 nTPM
adipose tissue: 1.9 nTPM
adrenal gland: 1.4 nTPM
breast: 0.8 nTPM
basal ganglia: 0.7 nTPM

Single-cell type

choroid plexus epithelial cells: 21 nCPM
astrocytes: 3 nCPM
rod photoreceptor cells: 2.4 nCPM
bergmann glia: 1.8 nCPM
ependymal cells: 1.7 nCPM
retinal amacrine cells: 0.7 nCPM

Immune cell

naive B-cell: 0.3 nTPM
eosinophil: 0.2 nTPM
neutrophil: 0.2 nTPM
plasmacytoid DC: 0.2 nTPM
T-reg: 0.2 nTPM
classical monocyte: 0.1 nTPM

Brain region

choroid plexus: 35 nTPM
hippocampal formation: 6.4 nTPM
cerebellum: 5.2 nTPM
medulla oblongata: 4.8 nTPM
thalamus: 4.7 nTPM
pons: 4.3 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): 1.7
gnomAD pLI: 0.01
gnomAD missense Z: 0.19
DepMap mean gene effect: -0.05
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

Molecular functions

receptor ligand activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NXNL1 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 NXNL1 as an antibody target. Whether an autoantibody or antibody against NXNL1 could matter depends on whether native NXNL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NXNL1 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 NXNL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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