NSD3
Histone-lysine N-methyltransferase NSD3
Also known as: FLJ20353, KMT3F, NSD3_HUMAN, WHISTLE, WHSC1L1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BZ95
- Gene
- NSD3
- Ensembl
- ENSG00000147548
- Chromosome
- 8
- Canonical length
- 1437 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Mitochondria
OverviewNCBI Gene
This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]
Canonical amino-acid sequenceUniProt
1437 residues, UniProt reviewed canonical sequence.
>Q9BZ95|NSD3
1 MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNNSDI AEDGGQTPYE ATLQQGFQYP
61 ATTEDLPPLT NGYPSSISVY ETQTKYQSYN QYPNGSANGF GAVRNFSPTD YYHSEIPNTR
121 PHEILEKPSP PQPPPPPSVP QTVIPKKTGS PEIKLKITKT IQNGRELFES SLCGDLLNEV
181 QASEHTKSKH ESRKEKRKKS NKHDSSRSEE RKSHKIPKLE PEEQNRPNER VDTVSEKPRE
241 EPVLKEEAPV QPILSSVPTT EVSTGVKFQV GDLVWSKVGT YPWWPCMVSS DPQLEVHTKI
301 NTRGAREYHV QFFSNQPERA WVHEKRVREY KGHKQYEELL AEATKQASNH SEKQKIRKPR
361 PQRERAQWDI GIAHAEKALK MTREERIEQY TFIYIDKQPE EALSQAKKSV ASKTEVKKTR
421 RPRSVLNTQP EQTNAGEVAS SLSSTEIRRH SQRRHTSAEE EEPPPVKIAW KTAAARKSLP
481 ASITMHKGSL DLQKCNMSPV VKIEQVFALQ NATGDGKFID QFVYSTKGIG NKTEISVRGQ
541 DRLIISTPNQ RNEKPTQSVS SPEATSGSTG SVEKKQQRRS IRTRSESEKS TEVVPKKKIK
601 KEQVETVPQA TVKTGLQKGA SEISDSCKPL KKRSRASTDV EMTSSAYRDT SDSDSRGLSD
661 LQVGFGKQVD SPSATADADV SDVQSMDSSL SRRGTGMSKK DTVCQICESS GDSLIPCEGE
721 CCKHFHLECL GLASLPDSKF ICMECKTGQH PCFSCKVSGK DVKRCSVGAC GKFYHEACVR
781 KFPTAIFESK GFRCPQHCCS ACSMEKDIHK ASKGRMMRCL RCPVAYHSGD ACIAAGSMLV
841 SSYILICSNH SKRSSNSSAV NVGFCFVCAR GLIVQDHSDP MFSSYAYKSH YLLNESNRAE
901 LMKLPMIPSS SASKKKCEKG GRLLCCESCP ASFHPECLSI EMPEGCWNCN DCKAGKKLHY
961 KQIVWVKLGN YRWWPAEICN PRSVPLNIQG LKHDLGDFPV FFFGSHDYYW VHQGRVFPYV
1021 EGDKSFAEGQ TSINKTFKKA LEEAAKRFQE LKAQRESKEA LEIEKNSRKP PPYKHIKANK
1081 VIGKVQIQVA DLSEIPRCNC KPADENPCGL ESECLNRMLQ YECHPQVCPA GDRCQNQCFT
1141 KRLYPDAEII KTERRGWGLR TKRSIKKGEF VNEYVGELID EEECRLRIKR AHENSVTNFY
1201 MLTVTKDRII DAGPKGNYSR FMNHSCNPNC ETQKWTVNGD VRVGLFALCD IPAGMELTFN
1261 YNLDCLGNGR TECHCGADNC SGFLGVRPKS ACASTNEEKA KNAKLKQKRR KIKTEPKQMH
1321 EDYCFQCGDG GELVMCDKKD CPKAYHLLCL NLTQPPYGKW ECPWHQCDEC SSAAVSFCEF
1381 CPHSFCKDHE KGALVPSALE GRLCCSEHDP MAPVSPEYWS KIKCKWESQD HGEEVKELocalizationUniProt · AlphaFold · HPA
Whether an antibody against NSD3 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)
- 0.48
- Highest tissue expression
- 57 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 57 nTPM
- thymus: 36 nTPM
- lymph node: 33 nTPM
- placenta: 32 nTPM
- ovary: 29 nTPM
- tonsil: 29 nTPM
Single-cell type
- neutrophil progenitors: 393 nCPM
- bergmann glia: 360 nCPM
- b-cells: 340 nCPM
- extravillous trophoblasts: 315 nCPM
- lactotrophs: 314 nCPM
- retinal horizontal cells: 297 nCPM
Immune cell
- naive B-cell: 61 nTPM
- neutrophil: 58 nTPM
- T-reg: 44 nTPM
- memory B-cell: 43 nTPM
- basophil: 38 nTPM
- naive CD4 T-cell: 32 nTPM
Brain region
- cerebellum: 162 nTPM
- hypothalamus: 149 nTPM
- cerebral cortex: 148 nTPM
- white matter: 141 nTPM
- basal ganglia: 126 nTPM
- amygdala: 123 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)
- 0.14
- gnomAD pLI
- 1
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- methylation
- positive regulation of DNA-templated transcription
- regulation of DNA-templated transcription
Molecular functions
- histone H3 methyltransferase activity
- histone H3K27 trimethyltransferase activity
- histone H3K36 methyltransferase activity
- transcription regulator activator activity
- zinc ion binding
- histone H3K27 dimethyltransferase activity
- histone H3K4 dimethyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- PWWP domain
- SET domain
- Zinc finger, PHD-type
- Post-SET domain
- AWS domain
- Zinc finger, FYVE/PHD-type
- Zinc finger, RING/FYVE/PHD-type
- Zinc finger, PHD-type, conserved site
- Zinc finger, PHD-finger
- NSD, Cys-His rich domain
- SET domain superfamily
- SET2 Histone-Lysine N-Methyltransferase
- Histone-lysine N-methyltransferase NSD-like, variant PHD zinc finger
- Histone-lysine N-methyltransferase NSD-like, PHD zinc finger
- Histone-lysine N-methyltransferase NSD-like, PHD zinc finger 1
- PWWP domain
- SET domain
- AWS domain
- NSD Cys-His rich domain
- Histone-lysine N-methyltransferase NSD-like, PHD zinc finger
- Histone-lysine N-methyltransferase NSD-like, variant PHD zinc finger
- Histone-lysine N-methyltransferase NSD-like, PHD zinc finger 1
- Histone-lysine N-methyltransferase NSD3, first PWWP domain
- Histone-lysine N-methyltransferase NSD3, second PWWP domain
- Histone-lysine N-methyltransferase NSD3, second PHD finger
- Histone-lysine N-methyltransferase NSD3, fourth PHD finger
- Histone-lysine N-methyltransferase NSD3, SET domain
- Histone-lysine N-methyltransferase NSD3, fifth PHD finger
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NSD3 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 NSD3 as an antibody target. Whether an autoantibody or antibody against NSD3 could matter depends on whether native NSD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NSD3 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 NSD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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