Seroatlas · Human Serome Atlas

NAV3

Neuron navigator 3

Also known as: KIAA0938, NAV3_HUMAN, POMFIL1

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

Protein identityUniProt · HPA

UniProt accession
Q8IVL0
Gene
NAV3
Ensembl
ENSG00000067798
Chromosome
12
Canonical length
2385 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear membrane,Cytosol

OverviewNCBI Gene

This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

2385 residues, UniProt reviewed canonical sequence.

>Q8IVL0|NAV3
     1  MPVLGVASKL RQPAVGSKPV HTALPIPNLG TTGSQHCSSR PLELTETESS MLSCQLALKS
    61  TCEFGEKKPL QGKAKEKEDS KIYTDWANHY LAKSGHKRLI KDLQQDIADG VLLAEIIQII
   121  ANEKVEDING CPRSQSQMIE NVDVCLSFLA ARGVNVQGLS AEEIRNGNLK AILGLFFSLS
   181  RYKQQQHHQQ QYYQSLVELQ QRVTHASPPS EASQAKTQQD MQSSLAARYA TQSNHSGIAT
   241  SQKKPTRLPG PSRVPAAGSS SKVQGASNLN RRSQSFNSID KNKPPNYANG NEKDSSKGPQ
   301  SSSGVNGNVQ PPSTAGQPPA SAIPSPSASK PWRSKSMNVK HSATSTMLTV KQSSTATSPT
   361  PSSDRLKPPV SEGVKTAPSG QKSMLEKFKL VNARTALRPP QPPSSGPSDG GKDDDAFSES
   421  GEMEGFNSGL NSGGSTNSSP KVSPKLAPPK AGSKNLSNKK SLLQPKEKEE KNRDKNKVCT
   481  EKPVKEEKDQ VTEMAPKKTS KIASLIPKGS KTTAAKKESL IPSSSGIPKP GSKVPTVKQT
   541  ISPGSTASKE SEKFRTTKGS PSQSLSKPIT MEKASASSCP APLEGREAGQ ASPSGSCTMT
   601  VAQSSGQSTG NGAVQLPQQQ QHSHPNTATV APFIYRAHSE NEGTALPSAD SCTSPTKMDL
   661  SYSKTAKQCL EEISGEDPET RRMRTVKNIA DLRQNLEETM SSLRGTQISH STLETTFDST
   721  VTTEVNGRTI PNLTSRPTPM TWRLGQACPR LQAGDAPSLG AGYPRSGTSR FIHTDPSRFM
   781  YTTPLRRAAV SRLGNMSQID MSEKASSDLD MSSEVDVGGY MSDGDILGKS LRTDDINSGY
   841  MTDGGLNLYT RSLNRIPDTA TSRDIIQRGV HDVTVDADSW DDSSSVSSGL SDTLDNISTD
   901  DLNTTSSVSS YSNITVPSRK NTQLRTDSEK RSTTDETWDS PEELKKPEED FDSHGDAGGK
   961  WKTVSSGLPE DPEKAGQKAS LSVSQTGSWR RGMSAQGGAP SRQKAGTSAL KTPGKTDDAK
  1021  ASEKGKAPLK GSSLQRSPSD AGKSSGDEGK KPPSGIGRST ATSSFGFKKP SGVGSSAMIT
  1081  SSGATITSGS ATLGKIPKSA AIGGKSNAGR KTSLDGSQNQ DDVVLHVSSK TTLQYRSLPR
  1141  PSKSSTSGIP GRGGHRSSTS SIDSNVSSKS AGATTSKLRE PTKIGSGRSS PVTVNQTDKE
  1201  KEKVAVSDSE SVSLSGSPKS SPTSASACGA QGLRQPGSKY PDIASPTFRR LFGAKAGGKS
  1261  ASAPNTEGVK SSSVMPSPST TLARQGSLES PSSGTGSMGS AGGLSGSSSP LFNKPSDLTT
  1321  DVISLSHSLA SSPASVHSFT SGGLVWAANM SSSSAGSKDT PSYQSMTSLH TSSESIDLPL
  1381  SHHGSLSGLT TGTHEVQSLL MRTGSVRSTL SESMQLDRNT LPKKGLRYTP SSRQANQEEG
  1441  KEWLRSHSTG GLQDTGNQSP LVSPSAMSSS AAGKYHFSNL VSPTNLSQFN LPGPSMMRSN
  1501  SIPAQDSSFD LYDDSQLCGS ATSLEERPRA ISHSGSFRDS MEEVHGSSLS LVSSTSSLYS
  1561  TAEEKAHSEQ IHKLRRELVA SQEKVATLTS QLSANAHLVA AFEKSLGNMT GRLQSLTMTA
  1621  EQKESELIEL RETIEMLKAQ NSAAQAAIQG ALNGPDHPPK DLRIRRQHSS ESVSSINSAT
  1681  SHSSIGSGND ADSKKKKKKN WVNSRGSELR SSFKQAFGKK KSTKPPSSHS DIEELTDSSL
  1741  PASPKLPHNA GDCGSASMKP SQSASASPLV WPPKKRQNGP VIYKHRSRIC ECTEAEAEII
  1801  LQLKSELREK ELKLTDIRLE ALSSAHHLDQ IREAMNRMQN EIEILKAEND RLKAETGNTA
  1861  KPTRPPSESS SSTSSSSSRQ SLGLSLNNLN ITEAVSSDIL LDDAGDATGH KDGRSVKIIV
  1921  SISKGYGRAK DQKSQAYLIG SIGVSGKTKW DVLDGVIRRL FKEYVFRIDT STSLGLSSDC
  1981  IASYCIGDLI RSHNLEVPEL LPCGYLVGDN NIITVNLKGV EENSLDSFVF DTLIPKPITQ
  2041  RYFNLLMEHH RIILSGPSGT GKTYLANKLA EYVITKSGRK KTEDAIATFN VDHKSSKELQ
  2101  QYLANLAEQC SADNNGVELP VVIILDNLHH VGSLSDIFNG FLNCKYNKCP YIIGTMNQGV
  2161  SSSPNLELHH NFRWVLCANH TEPVKGFLGR YLRRKLIEIE IERNIRNNDL VKIIDWIPKT
  2221  WHHLNSFLET HSSSDVTIGP RLFLPCPMDV EGSRVWFMDL WNYSLVPYIL EAVREGLQMY
  2281  GKRTPWEDPS KWVLDTYPWS SATLPQESPA LLQLRPEDVG YESCTSTKEA TTSKHIPQTD
  2341  TEGDPLMNML MKLQEAANYS STQSCDSEST SHHEDILDSS LESTL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NAV3 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)
0.56
Highest tissue expression
15 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 15 nTPM
  • ovary: 14 nTPM
  • cerebellum: 11 nTPM
  • hippocampal formation: 9.2 nTPM
  • amygdala: 9 nTPM
  • spleen: 7.5 nTPM

Single-cell type

  • lactotrophs: 2,383 nCPM
  • microglia: 2,148 nCPM
  • astrocytes: 1,892 nCPM
  • neutrophil progenitors: 1,804 nCPM
  • retinal horizontal cells: 1,769 nCPM
  • brain excitatory neurons: 1,486 nCPM

Immune cell

  • neutrophil: 1 nTPM
  • basophil: 0.8 nTPM
  • naive B-cell: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • cerebral cortex: 89 nTPM
  • hippocampal formation: 78 nTPM
  • basal ganglia: 75 nTPM
  • amygdala: 74 nTPM
  • white matter: 74 nTPM
  • medulla oblongata: 56 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NAV3.

Disease | AllUniProt

Conditions NAV3 is implicated in, by any mechanism.

  • Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities (NEDSFB) MIM:621182

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 353 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities
  • NAV3-associated neurodevelopmental 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)
0.19
gnomAD pLI
1
gnomAD missense Z
1.33
DepMap mean gene effect
-0.09
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NAV3 as an antibody target. Whether an autoantibody or antibody against NAV3 could matter depends on whether native NAV3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NAV3 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 NAV3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NAV3. 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).

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