Seroatlas · Human Serome Atlas

NEXMIF

Neurite extension and migration factor

Also known as: KIAA2022, KIDLIA, MRX98, NEXMI_HUMAN, XPN

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

Protein identityUniProt · HPA

UniProt accession: Q5QGS0
Gene: NEXMIF
Ensembl: ENSG00000050030
Chromosome: X
Canonical length: 1516 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Midbody,Cytosol

OverviewNCBI Gene

An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

1516 residues, UniProt reviewed canonical sequence.

>Q5QGS0|NEXMIF
     1  MDNQQDKAIV ASANGENTLI NGVKENDSED QDVAMKSFAA LEAAAPIQPT PVAQKETLMY
    61  PRGLLPLPSK KPCMQSPPSP LGLIEAPEHA ANSASVNAIS LTSGIAKGLN TWSLPNECEK
   121  APFAIMEPAG MSALNGDCLM QPSRTCLGCF MESKDAVDPE PGISLKVGDL NRDYETCAVS
   181  DIGIQCINAG ENMKYGEQLL SDQLLGFPLH KSRAGDRRET EKPDIDLEDP AQKSYYEALL
   241  LDKCNTEEAL LANSNQDWGY FETFISESKI ELLDLCSKNE LSVNLFSEED VDNYMFDDDE
   301  STLGSDVCSL KIRYESFQDN VRDKTTLLMQ EDAQFNFFPS VFTTCPKRES KSGALKQSSD
   361  FSQFKVPDVS IIWGEEDKNL DKKKGKEEGQ EDKGVEKKDG KDNGEKPALN KPCSGTEVEQ
   421  LKNPKQGHLA NSLETSGSFS DDSSFIEISY DAMGEIKDCS RYMARDTNSG SSSSQQNYGL
   481  RAKRKVRYSE DYLYDVDSLE GEKVNERKEW LPVGSKEEDD DEWCPKKRRK VTRKEPPVII
   541  KYIIINRFKG EKNMLVKLGK VDASETTVNL SENQLNKYAK LAPLKGFWQK KKKQRNTNTD
   601  SIKTPFSQKQ SFEPGSFEVS FLPPARKRKS KLGNRHRIQR IPSIEISASS KQISLCNDQR
   661  HASNHKEDGG LKGTLKSAPL GAPSCANGSH LNDITGPDSV KVKAQDTEFK GPERKVLNKI
   721  KFKSEARLKS KKVKAAGQES KPIVQMSPLL ENQSSKANLK NEVIPGTSNS SRLSEFHEAK
   781  AAKSSTFLPT TCSSEMPLSS ANVTTNIPVI PGGYLQTLLD ASDLSNNTSI SYFSHHSPEQ
   841  NEGSLTQTEK SFVPLQPTQD CVLTSSSDSE LQQSSHNFKM ESSNYRNVWP NKATSGTQEF
   901  MAEVSREIAP TQSSEFGASQ VVSMENNLTP TTYNPICLNS GGSNCNKVLY DSMQDTQLPS
   961  DDSYQLCHFN NGEICFPFQQ GPVNMDDGRL FSFDSMAPLS VSSSNYCSLS LKSCEKDGDD
  1021  DITDDFLAHC SPKLVIQQSI DEIAPLKEST DLLDISNFTP DKFRHSSLSE MSPPDTPSLS
  1081  PQITRCESMK TLGTLKGFQE GVPGPLDSVE KIKWDCSTLS RQVQMEDGFT LNNHQFQFHM
  1141  FNDEDSVSLL QKNPCLSTFN DPSGQISTNN KVSKSRKKSS PSKSGAMNQS SSQKNTRKKS
  1201  LKGNNKGIEK PPGKNSRQVP KSTKKGKYMA AINGEKMQIG IGRGGSQTNT ISSTGKTLAE
  1261  CIQHGGPMAS MKMPSQKGLS GDWALGKESS PGWSDMSMGT NTNSLLDDDQ REFQEPSYIL
  1321  SNIASGMADV QRFMMASIEP LWEPMEHHGD PNIFYSPESN SLKLKTLKIL AGTPQESKKK
  1381  INSGSQGATK NHRSIKGVSK SNGKTAIGDP GRANMPGYNE DSRSTFFDKK YSNMSTLGNN
  1441  GPTHKKLYRH KSSSKALRDE KCKGKHMERE QVHKDESGTA SFEKLRDSDY NLLKAETTFW
  1501  VLPVFEEETR IFQKDI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NEXMIF 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): 0.68
Highest tissue expression: 2.9 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 2.9 nTPM
hypothalamus: 2.4 nTPM
cerebellum: 2 nTPM
pituitary gland: 1.9 nTPM
basal ganglia: 1.7 nTPM
parathyroid gland: 1.7 nTPM

Single-cell type

somatotrophs: 292 nCPM
lactotrophs: 187 nCPM
thyrotrophs: 159 nCPM
brain inhibitory neurons: 157 nCPM
other brain neurons: 156 nCPM
retinal amacrine cells: 129 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

hypothalamus: 21 nTPM
basal ganglia: 13 nTPM
cerebral cortex: 12 nTPM
hippocampal formation: 8.9 nTPM
cerebellum: 8.1 nTPM
midbrain: 8.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NEXMIF.

Disease | AllUniProt

Conditions NEXMIF is implicated in, by any mechanism.

Intellectual developmental disorder, X-linked 98 (XLID98) MIM:300912

Disease | GeneticClinVar

224 pathogenic / likely-pathogenic of 1,348 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

X-linked intellectual disability, Cantagrel type
Intellectual disability
Inborn genetic diseases
Epilepsy with myoclonic atonic seizures
Seizure

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): 0.2
gnomAD pLI: 1
DepMap mean gene effect: -0.04
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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