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Gene name

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Chromosome

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Method

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Searches

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Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

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NF1
  • TISSUE

  • CELL

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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

NF1

Gene description

Neurofibromin 1

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins
RAS pathway related proteins

Predicted localization

Intracellular

Number of transcripts

6
SHOW MORE

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

Protein expression

General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly not consistent with RNA expression data.

Reliability score

Uncertain based on 1 antibody.
HPA045502
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
N/A
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

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

NF1

Synonyms

Description

Neurofibromin 1 (HGNC Symbol)

Entrez gene summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

Chromosome

17

Cytoband

q11.2

Chromosome location (bp)

31094927 - 31382116

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000196712 (version 83.38)

Entrez gene

4763

UniProt

P21359 (UniProt - Evidence at protein level)

neXtProt

NX_P21359

Antibodypedia

NF1 antibodies

PROTEIN BROWSER

NF1-001
NF1-002
NF1-003
NF1-010
NF1-013
NF1-023

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NF1-001
ENSP00000351015
ENST00000358273
P21359 [Direct mapping]
Neurofibromin Neurofibromin truncated
Show all
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
RAS pathway related proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0001649 [osteoblast differentiation]
GO:0001656 [metanephros development]
GO:0001666 [response to hypoxia]
GO:0001889 [liver development]
GO:0001937 [negative regulation of endothelial cell proliferation]
GO:0001938 [positive regulation of endothelial cell proliferation]
GO:0001952 [regulation of cell-matrix adhesion]
GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006469 [negative regulation of protein kinase activity]
GO:0007154 [cell communication]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007406 [negative regulation of neuroblast proliferation]
GO:0007411 [axon guidance]
GO:0007420 [brain development]
GO:0007422 [peripheral nervous system development]
GO:0007507 [heart development]
GO:0007519 [skeletal muscle tissue development]
GO:0008285 [negative regulation of cell proliferation]
GO:0008286 [insulin receptor signaling pathway]
GO:0008429 [phosphatidylethanolamine binding]
GO:0008542 [visual learning]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors]
GO:0010468 [regulation of gene expression]
GO:0014044 [Schwann cell development]
GO:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016525 [negative regulation of angiogenesis]
GO:0021510 [spinal cord development]
GO:0021764 [amygdala development]
GO:0021897 [forebrain astrocyte development]
GO:0021915 [neural tube development]
GO:0021987 [cerebral cortex development]
GO:0022011 [myelination in peripheral nervous system]
GO:0030036 [actin cytoskeleton organization]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030325 [adrenal gland development]
GO:0030336 [negative regulation of cell migration]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031210 [phosphatidylcholine binding]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0032228 [regulation of synaptic transmission, GABAergic]
GO:0034605 [cellular response to heat]
GO:0035021 [negative regulation of Rac protein signal transduction]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042060 [wound healing]
GO:0042127 [regulation of cell proliferation]
GO:0042992 [negative regulation of transcription factor import into nucleus]
GO:0043065 [positive regulation of apoptotic process]
GO:0043087 [regulation of GTPase activity]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0043408 [regulation of MAPK cascade]
GO:0043409 [negative regulation of MAPK cascade]
GO:0043473 [pigmentation]
GO:0043525 [positive regulation of neuron apoptotic process]
GO:0043535 [regulation of blood vessel endothelial cell migration]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0045124 [regulation of bone resorption]
GO:0045671 [negative regulation of osteoclast differentiation]
GO:0045685 [regulation of glial cell differentiation]
GO:0045762 [positive regulation of adenylate cyclase activity]
GO:0045765 [regulation of angiogenesis]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0046929 [negative regulation of neurotransmitter secretion]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048147 [negative regulation of fibroblast proliferation]
GO:0048169 [regulation of long-term neuronal synaptic plasticity]
GO:0048485 [sympathetic nervous system development]
GO:0048593 [camera-type eye morphogenesis]
GO:0048712 [negative regulation of astrocyte differentiation]
GO:0048715 [negative regulation of oligodendrocyte differentiation]
GO:0048745 [smooth muscle tissue development]
GO:0048844 [artery morphogenesis]
GO:0048853 [forebrain morphogenesis]
GO:0050890 [cognition]
GO:0061534 [gamma-aminobutyric acid secretion, neurotransmission]
GO:0061535 [glutamate secretion, neurotransmission]
GO:0098597 [observational learning]
GO:1900271 [regulation of long-term synaptic potentiation]
GO:1902043 [positive regulation of extrinsic apoptotic signaling pathway via death domain receptors]
GO:2001241 [positive regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Show all
2839 aa
319.4 kDa
No 0
NF1-002
ENSP00000348498
ENST00000356175
P21359 [Direct mapping]
Neurofibromin Neurofibromin truncated
Show all
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
RAS pathway related proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0001649 [osteoblast differentiation]
GO:0001656 [metanephros development]
GO:0001666 [response to hypoxia]
GO:0001889 [liver development]
GO:0001937 [negative regulation of endothelial cell proliferation]
GO:0001952 [regulation of cell-matrix adhesion]
GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006469 [negative regulation of protein kinase activity]
GO:0007154 [cell communication]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007406 [negative regulation of neuroblast proliferation]
GO:0007411 [axon guidance]
GO:0007420 [brain development]
GO:0007422 [peripheral nervous system development]
GO:0007507 [heart development]
GO:0008286 [insulin receptor signaling pathway]
GO:0008429 [phosphatidylethanolamine binding]
GO:0008542 [visual learning]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0014044 [Schwann cell development]
GO:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0021510 [spinal cord development]
GO:0021897 [forebrain astrocyte development]
GO:0021987 [cerebral cortex development]
GO:0022011 [myelination in peripheral nervous system]
GO:0030036 [actin cytoskeleton organization]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030325 [adrenal gland development]
GO:0030336 [negative regulation of cell migration]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031210 [phosphatidylcholine binding]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042060 [wound healing]
GO:0042992 [negative regulation of transcription factor import into nucleus]
GO:0043065 [positive regulation of apoptotic process]
GO:0043087 [regulation of GTPase activity]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0043409 [negative regulation of MAPK cascade]
GO:0043473 [pigmentation]
GO:0043525 [positive regulation of neuron apoptotic process]
GO:0043535 [regulation of blood vessel endothelial cell migration]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0045124 [regulation of bone resorption]
GO:0045685 [regulation of glial cell differentiation]
GO:0045762 [positive regulation of adenylate cyclase activity]
GO:0045765 [regulation of angiogenesis]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048147 [negative regulation of fibroblast proliferation]
GO:0048485 [sympathetic nervous system development]
GO:0048593 [camera-type eye morphogenesis]
GO:0048715 [negative regulation of oligodendrocyte differentiation]
GO:0048745 [smooth muscle tissue development]
GO:0048844 [artery morphogenesis]
GO:0048853 [forebrain morphogenesis]
GO:0050890 [cognition]
Show all
2818 aa
317 kDa
No 0
NF1-003
ENSP00000389907
ENST00000456735
H0Y465 [Direct mapping]
Neurofibromin
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
RAS pathway related proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0005737 [cytoplasm]
GO:0007165 [signal transduction]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0043087 [regulation of GTPase activity]
GO:0046580 [negative regulation of Ras protein signal transduction]
Show all
2502 aa
281.2 kDa
No 0
NF1-010
ENSP00000412921
ENST00000431387
P21359 [Direct mapping]
Neurofibromin Neurofibromin truncated
Show all
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
RAS pathway related proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0001649 [osteoblast differentiation]
GO:0001656 [metanephros development]
GO:0001666 [response to hypoxia]
GO:0001889 [liver development]
GO:0001937 [negative regulation of endothelial cell proliferation]
GO:0001952 [regulation of cell-matrix adhesion]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006469 [negative regulation of protein kinase activity]
GO:0007154 [cell communication]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007406 [negative regulation of neuroblast proliferation]
GO:0007411 [axon guidance]
GO:0007420 [brain development]
GO:0007422 [peripheral nervous system development]
GO:0007507 [heart development]
GO:0008286 [insulin receptor signaling pathway]
GO:0008429 [phosphatidylethanolamine binding]
GO:0008542 [visual learning]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0014044 [Schwann cell development]
GO:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0021510 [spinal cord development]
GO:0021897 [forebrain astrocyte development]
GO:0021987 [cerebral cortex development]
GO:0022011 [myelination in peripheral nervous system]
GO:0030036 [actin cytoskeleton organization]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030325 [adrenal gland development]
GO:0030336 [negative regulation of cell migration]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031210 [phosphatidylcholine binding]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042060 [wound healing]
GO:0042992 [negative regulation of transcription factor import into nucleus]
GO:0043065 [positive regulation of apoptotic process]
GO:0043087 [regulation of GTPase activity]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0043409 [negative regulation of MAPK cascade]
GO:0043473 [pigmentation]
GO:0043525 [positive regulation of neuron apoptotic process]
GO:0043535 [regulation of blood vessel endothelial cell migration]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0045124 [regulation of bone resorption]
GO:0045685 [regulation of glial cell differentiation]
GO:0045762 [positive regulation of adenylate cyclase activity]
GO:0045765 [regulation of angiogenesis]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048147 [negative regulation of fibroblast proliferation]
GO:0048485 [sympathetic nervous system development]
GO:0048593 [camera-type eye morphogenesis]
GO:0048715 [negative regulation of oligodendrocyte differentiation]
GO:0048745 [smooth muscle tissue development]
GO:0048844 [artery morphogenesis]
GO:0048853 [forebrain morphogenesis]
GO:0050890 [cognition]
Show all
593 aa
67.5 kDa
No 0
NF1-013
ENSP00000464702
ENST00000468273
K7EID4 [Direct mapping]
Neurofibromin
Show all
Predicted intracellular proteins
RAS pathway related proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0046580 [negative regulation of Ras protein signal transduction]
Show all
115 aa
12.6 kDa
No 0
NF1-023
ENSP00000467284
ENST00000489712
K7EP94 [Direct mapping]
Neurofibromin
Show all
Predicted intracellular proteins
RAS pathway related proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0046580 [negative regulation of Ras protein signal transduction]
Show all
117 aa
13.3 kDa
No 0

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