Seroatlas · Human Serome Atlas

NHS

Actin remodeling regulator NHS

Also known as: NHS_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q6T4R5
Gene
NHS
Ensembl
ENSG00000188158
Chromosome
X
Canonical length
1651 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Cell Junctions

OverviewNCBI Gene

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Canonical amino-acid sequenceUniProt

1651 residues, UniProt reviewed canonical sequence.

>Q6T4R5|NHS
     1  MPFAKRIVEP QWLCRQRRPA PGPAVDASGG SAEPPPPLQP PGRRDLDEVE APGPEEPARA
    61  VPAPSGLPPP PPPLPAPADQ TQPPHGEASV AGEESTAGIP EAAPAAGEAS SAAAAAAVLL
   121  MLDLCAVSNA ALARVLRQLS DVARHACSLF QELESDIQLT HRRVWALQGK LGGVQRVLST
   181  LDPKQEAVPV SNLDIESKLS VYYRAPWHQQ RNIFLPATRP PCVEELHRHA RQSLQALRRE
   241  HRSRSDRREQ RAAAPLSIAA PPLPAYPPAH SQRRREFKDR HFLTFNSTRS PSPTECCHMT
   301  PWSRKSHPPE DEDTDVMLGQ RPKNPIHNIP STLDKQTNWS KALPLPTPEE KMKQDAQVIS
   361  SCIIPINVTG VGFDREASIR CSLVHSQSVL QRRRKLRRRK TISGIPRRVQ QEIDSDESPV
   421  ARERNVIVHT NPDPSNTVNR ISGTRDSECQ TEDILIAAPS RRRIRAQRGQ SIAASLSHSA
   481  GNISALADKG DTMFTPAVSS RTRSRSLPRE GNRGGDAEPK VGAKPSAYEE GESFVGDHER
   541  TPNDFSEAPS SPSAQDHQPT LGLACSQHLH SPQHKLSERG RSRLSRMAAD SGSCDISSNS
   601  DTFGSPIHCI STAGVLLSSH MDQKDDHQSS SGNWSGSSST CPSQTSETIP PAASPPLTGS
   661  SHCDSELSLN TAPHANEDAS VFVTEQYNDH LDKVRGHRAN SFTSTVADLL DDPNNSNTSD
   721  SEWNYLHHHH DASCRQDFSP ERPKADSLGC PSFTSMATYD SFLEKSPSDK ADTSSHFSVD
   781  TEGYYTSMHF DCGLKGNKSY VCHYAALGPE NGQGVGASPG LPDCAWQDYL DHKRQGRPSI
   841  SFRKPKAKPT PPKRSSSLRK SDGNADISEK KEPKISSGQH LPHSSREMKL PLDFANTPSR
   901  MENANLPTKQ EPSWINQSEQ GIKEPQLDAS DIPPFKDEVA ESTHYADLWL LNDLKTNDPY
   961  RSLSNSSTAT GTTVIECIKS PESSESQTSQ SESRATTPSL PSVDNEFKLA SPEKLAGLAS
  1021  PSSGYSSQSE TPTSSFPTAF FSGPLSPGGS KRKPKVPERK SSLQQPSLKD GTISLSKDLE
  1081  LPIIPPTHLD LSALHNVLNK PFHHRHPLHV FTHNKQNTVG ETLRSNPPPS LAITPTILKS
  1141  VNLRSINKSE EVKQKEENNT DLPYLEESTL TTAALSPSKI RPHTANKSVS RQYSTEDTIL
  1201  SFLDSSAVEM GPDKLHLEKN STFDVKNRCD PETITSAGSS LLDSNVTKDQ VRTETEPIPE
  1261  NTPTKNCAFP TEGFQRVSAA RPNDLDGKII QYGPGPDETL EQVQKAPSAG LEEVAQPESV
  1321  DVITSQSDSP TRATDVSNQF KHQFVMSRHH DKVPGTISYE SEITSVNSFP EKCSKQENIA
  1381  SGISAKSASD NSKAEETQGN VDEASLKESS PSDDSIISPL SEDSQAEAEG VFVSPNKPRT
  1441  TEDLFAVIHR SKRKVLGRKD SGDMSVRSKS RAPLSSSSSS ASSITSPSSN VTTPNSQRSP
  1501  GLIYRNAKKS NTSNEEFKLL LLKKGSRSDS SYRMSATEIL KSPILPKPPG ELTAESPQST
  1561  DDAHQGSQGA EALSPLSPCS PRVNAEGFSS KSFATSASAR VGRSRAPPAA SSSRYSVRCR
  1621  LYNTPMQAIS EGETENSDGS PHDDRSSQSS T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NHS 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.67
Highest tissue expression
8 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 8 nTPM
  • retina: 6.6 nTPM
  • cervix: 6.3 nTPM
  • kidney: 4.6 nTPM
  • endometrium: 4.4 nTPM
  • adrenal gland: 3.8 nTPM

Single-cell type

  • proximal tubule cells: 1,595 nCPM
  • distal convoluted tubule cells: 944 nCPM
  • pituicytes/fscs: 936 nCPM
  • sertoli cells: 743 nCPM
  • endometrial glandular cells: 697 nCPM
  • loop of henle epithelial cells: 588 nCPM

Immune cell

  • neutrophil: 1.3 nTPM
  • classical monocyte: 0.4 nTPM
  • NK-cell: 0.2 nTPM
  • intermediate monocyte: 0.1 nTPM
  • MAIT T-cell: 0.1 nTPM
  • memory CD8 T-cell: 0.1 nTPM

Brain region

  • choroid plexus: 20 nTPM
  • cerebral cortex: 15 nTPM
  • hypothalamus: 14 nTPM
  • medulla oblongata: 14 nTPM
  • pons: 13 nTPM
  • midbrain: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NHS.

Disease | AllUniProt

Conditions NHS is implicated in, by any mechanism.

Disease | GeneticClinVar

79 pathogenic / likely-pathogenic of 844 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.09
gnomAD pLI
1
gnomAD missense Z
1.82
DepMap mean gene effect
0.14
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

InteractionsUniProt · HPA

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

NHS is annotated at the cell surface, where native NHS is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label NHS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NHS. 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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