Seroatlas · Human Serome Atlas

NAF1

H/ACA ribonucleoprotein complex non-core subunit NAF1

Also known as: NAF1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96HR8
Gene
NAF1
Ensembl
ENSG00000145414
Chromosome
4
Canonical length
494 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

Enables identical protein binding activity and telomerase RNA binding activity. Involved in ribosome biogenesis; telomerase RNA stabilization; and telomerase holoenzyme complex assembly. Acts upstream of or within telomerase RNA localization to Cajal body. Located in cytoplasm and nucleoplasm. Part of sno(s)RNA-containing ribonucleoprotein complex. Implicated in melanoma. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

494 residues, UniProt reviewed canonical sequence.

>Q96HR8|NAF1
     1  MEVVEAAAAQ LETLKFNGTD FGVGEGPAAP SPGSAPVPGT QPPLQSFEGS PDAGQTVEVK
    61  PAGEQPLQPV LNAVAAGTPA PQPQPPAESP ACGDCVTSPG AAEPARAPDS LETSDSDSDS
   121  DSETDSDSSS SSSSSSSSSS SSSSSCISLP PVLSDGDDDL QIEKENKNFP LKTKDELLLN
   181  ELPSVEELTI ILPEDIELKP LGMVSSIIEQ LVIIESMTNL PPVNEETVIF KSDRQAAGKI
   241  FEIFGPVAHP FYVLRFNSSD HIESKGIKIK ETMYFAPSMK DFTQYIFTEK LKQDKGSDAS
   301  WKNDQEPPPE ALDFSDDEKE KEAKQRKKSQ IQGRKKLKSE FNEPGEDFTE VHQNWNAHSS
   361  ASEHAKGYRN REFTRGFSRA RYPRSCHGRP PPQHFYNSEH MVSQETSGFP SQRQNNPIMP
   421  QYPFPLPVFD MHNFPLRPPP PPPPPPVNMG WATPNMAAHP LLNLPYSLPP PPPPPPLPPP
   481  PSSGDSNSHF GPYY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NAF1 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)
0.62
Highest tissue expression
19 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 19 nTPM
  • retina: 13 nTPM
  • testis: 13 nTPM
  • fallopian tube: 12 nTPM
  • blood vessel: 11 nTPM
  • parathyroid gland: 10 nTPM

Single-cell type

  • epicardial cells: 159 nCPM
  • lactotrophs: 107 nCPM
  • vascular smooth muscle cells: 100 nCPM
  • early spermatids: 100 nCPM
  • endometrial ciliated cells: 97 nCPM
  • somatotrophs: 93 nCPM

Immune cell

  • memory CD8 T-cell: 1 nTPM
  • naive CD4 T-cell: 1 nTPM
  • myeloid DC: 0.8 nTPM
  • plasmacytoid DC: 0.8 nTPM
  • gdT-cell: 0.7 nTPM
  • memory CD4 T-cell: 0.7 nTPM

Brain region

  • choroid plexus: 32 nTPM
  • cerebral cortex: 28 nTPM
  • hippocampal formation: 26 nTPM
  • basal ganglia: 25 nTPM
  • midbrain: 21 nTPM
  • white matter: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NAF1.

Disease | AllUniProt

Conditions NAF1 is implicated in, by any mechanism.

  • Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 7 (PFBMFT7) MIM:620365

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 313 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7

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)
0.31
gnomAD pLI
0.98
gnomAD missense Z
-0.31
DepMap mean gene effect
-0.4
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NAF1 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 NAF1 as an antibody target. Whether an autoantibody or antibody against NAF1 could matter depends on whether native NAF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NAF1 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 NAF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NAF1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...