Tissue expression of NSD1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	NSD1
Gene description	Nuclear receptor binding SET domain protein 1
Protein class	Cancer-related genes Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	11
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	NSD1 (HGNC Symbol)
Synonyms	ARA267, FLJ22263, KMT3B, STO
Description	Nuclear receptor binding SET domain protein 1 (HGNC Symbol)
Entrez gene summary	This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Chromosome	5
Cytoband	q35.3
Chromosome location (bp)	177133025 - 177300215
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000165671 (version 83.38)
Entrez gene	64324
UniProt	Q96L73 (UniProt - Evidence at protein level)
neXtProt	NX_Q96L73
Antibodypedia	NSD1 antibodies

PROTEIN BROWSER

NSD1-001	NSD1-002	NSD1-003	NSD1-004	NSD1-005	NSD1-008	NSD1-009	NSD1-010	NSD1-011	NSD1-012	NSD1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
NSD1-001 ENSP00000395929 ENST00000439151	Q96L73 [Direct mapping] Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000414 [regulation of histone H3-K36 methylation] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0003682 [chromatin binding] GO:0003712 [transcription cofactor activity] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005694 [chromosome] GO:0005730 [nucleolus] GO:0006325 [chromatin organization] GO:0006351 [transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0010452 [histone H3-K36 methylation] GO:0016571 [histone methylation] GO:0018024 [histone-lysine N-methyltransferase activity] GO:0030331 [estrogen receptor binding] GO:0033135 [regulation of peptidyl-serine phosphorylation] GO:0034770 [histone H4-K20 methylation] GO:0042799 [histone methyltransferase activity (H4-K20 specific)] GO:0042974 [retinoic acid receptor binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0046965 [retinoid X receptor binding] GO:0046966 [thyroid hormone receptor binding] GO:0046975 [histone methyltransferase activity (H3-K36 specific)] GO:0050681 [androgen receptor binding] GO:1903025 [regulation of RNA polymerase II regulatory region sequence-specific DNA binding] Show all	2696 aa 296.7 kDa	No	0
NSD1-002 ENSP00000343209 ENST00000347982	Q96L73 [Direct mapping] Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000414 [regulation of histone H3-K36 methylation] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0003682 [chromatin binding] GO:0003712 [transcription cofactor activity] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005694 [chromosome] GO:0005730 [nucleolus] GO:0006325 [chromatin organization] GO:0006351 [transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0010452 [histone H3-K36 methylation] GO:0016571 [histone methylation] GO:0018024 [histone-lysine N-methyltransferase activity] GO:0030331 [estrogen receptor binding] GO:0033135 [regulation of peptidyl-serine phosphorylation] GO:0034770 [histone H4-K20 methylation] GO:0042799 [histone methyltransferase activity (H4-K20 specific)] GO:0042974 [retinoic acid receptor binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0046965 [retinoid X receptor binding] GO:0046966 [thyroid hormone receptor binding] GO:0046975 [histone methyltransferase activity (H3-K36 specific)] GO:0050681 [androgen receptor binding] GO:1903025 [regulation of RNA polymerase II regulatory region sequence-specific DNA binding] Show all	2427 aa 267.3 kDa	No	0
NSD1-003 ENSP00000426428 ENST00000511258	D6RG26 [Direct mapping] Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20-specific Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		67 aa 7.4 kDa	No	0
NSD1-004 ENSP00000423372 ENST00000508896	D6RA58 [Direct mapping] Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20-specific Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		155 aa 18 kDa	No	0
NSD1-005 ENSP00000423982 ENST00000510954	D6RBV9 [Direct mapping] Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20-specific Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		124 aa 14.2 kDa	No	0
NSD1-008 ENSP00000425120 ENST00000508029	D6RE14 [Direct mapping] Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20-specific Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		34 aa 4.1 kDa	No	0
NSD1-009 ENSP00000424024 ENST00000503056	D6RBP3 [Direct mapping] Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20-specific Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		94 aa 10.9 kDa	No	0
NSD1-010 ENSP00000422996 ENST00000504457		Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		9 aa 1.1 kDa	No	0
NSD1-011 ENSP00000424096 ENST00000505395		Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		5 aa 0.7 kDa	No	0
NSD1-012 ENSP00000423048 ENST00000515735	D6RA90 [Direct mapping] Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20-specific Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		52 aa 6 kDa	No	0
NSD1-201 ENSP00000346111 ENST00000354179	Q96L73 [Direct mapping] Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000414 [regulation of histone H3-K36 methylation] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0003682 [chromatin binding] GO:0003712 [transcription cofactor activity] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005694 [chromosome] GO:0005730 [nucleolus] GO:0006325 [chromatin organization] GO:0006351 [transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0010452 [histone H3-K36 methylation] GO:0016571 [histone methylation] GO:0018024 [histone-lysine N-methyltransferase activity] GO:0030331 [estrogen receptor binding] GO:0033135 [regulation of peptidyl-serine phosphorylation] GO:0034770 [histone H4-K20 methylation] GO:0042799 [histone methyltransferase activity (H4-K20 specific)] GO:0042974 [retinoic acid receptor binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0046965 [retinoid X receptor binding] GO:0046966 [thyroid hormone receptor binding] GO:0046975 [histone methyltransferase activity (H3-K36 specific)] GO:0050681 [androgen receptor binding] GO:1903025 [regulation of RNA polymerase II regulatory region sequence-specific DNA binding] Show all	2427 aa 267.3 kDa	No	0