NF1 neurofibromin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NF1provided by HGNC
Official Full Name: neurofibromin 1provided by HGNC
Primary source: HGNC:HGNC:7765
See related: Ensembl:ENSG00000196712 MIM:613113; AllianceGenome:HGNC:7765
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: WSS; NFNS; VRNF
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]
Expression: Ubiquitous expression in thyroid (RPKM 9.3), brain (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 58

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (31094927..31377677)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (32040661..32323039)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (29421945..29704695)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1.
Title: The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1.
A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Title: A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Title: Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.
Title: MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.
Breast cancer risk in NF1-deleted patients.
Title: Breast cancer risk in NF1-deleted patients.
NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor.
Title: NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor.
[Analysis of NF1 gene variants in a Chinese pedigree and a sporadic patient with Neurofibromatosis type 1].
Title: [Analysis of NF1 gene variants in a Chinese pedigree and a sporadic patient with Neurofibromatosis type 1].
Spatial Gene-Expression Profiling Unveils Immuno-oncogenic Programs of NF1-Associated Peripheral Nerve Sheath Tumor Progression.
Title: Spatial Gene-Expression Profiling Unveils Immuno-oncogenic Programs of NF1-Associated Peripheral Nerve Sheath Tumor Progression.
NF1 deficiency drives metabolic reprogramming in ER+ breast cancer.
Title: NF1 deficiency drives metabolic reprogramming in ER+ breast cancer.
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Title: Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Submit: New GeneRIF Correction See all GeneRIFs (459)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cafe-au-lait macules with pulmonary stenosis MedGen: C0553586 OMIM: 193520 GeneReviews: Not available	Compare labs
Juvenile myelomonocytic leukemia MedGen: C0349639 OMIM: 607785 GeneReviews: Not available	Compare labs
Neurofibromatosis, familial spinal MedGen: C1834235 OMIM: 162210 GeneReviews: Not available	Compare labs
Neurofibromatosis, type 1 MedGen: C0027831 OMIM: 162200 GeneReviews: Neurofibromatosis 1, Wilms Tumor Predisposition	Compare labs
Neurofibromatosis-Noonan syndrome MedGen: C2931482 OMIM: 601321 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-02-12) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-02-12) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:606211 (e-PCR)
- UniSTS:158214

GDB:180964 (e-PCR)
- UniSTS:155145

GDB:424477 (e-PCR)
- UniSTS:157193

GDB:606231 (e-PCR)
- UniSTS:158217

GDB:606236 (e-PCR)
- UniSTS:158218

GDB:606245 (e-PCR)
- UniSTS:158220

RH18392 (e-PCR)
- UniSTS:44556

GDB:606264 (e-PCR)
- UniSTS:158221

GDB:606270 (e-PCR)
- UniSTS:158223

GDB:606279 (e-PCR)
- UniSTS:158224

GDB:606294 (e-PCR)
- UniSTS:158226

GDB:606297 (e-PCR)
- UniSTS:158227

D17S1972 (e-PCR)
- UniSTS:31511

GDB:181190 (e-PCR)
- UniSTS:155165

GDB:360314 (e-PCR)
- UniSTS:156717

GDB:215865 (e-PCR)
- UniSTS:156206

GDB:360317 (e-PCR)
- UniSTS:156718

D17S1307 (e-PCR)
- UniSTS:17711

GDB:360321 (e-PCR)
- UniSTS:156719

GDB:360325 (e-PCR)
- UniSTS:156720

SHGC-155452 (e-PCR)
- UniSTS:183089

SHGC-30113 (e-PCR)
- UniSTS:83506

RH91562 (e-PCR)
- UniSTS:90930

G67878 (e-PCR)
- UniSTS:225590

WI-18876 (e-PCR)
- UniSTS:24898

D17S2051 (e-PCR)
- UniSTS:6214

GDB:437890 (e-PCR)
- UniSTS:157260

NF1 (e-PCR), detects polymorphism
- UniSTS:504662

SGC35675 (e-PCR)
- UniSTS:80483

SHGC-34851 (e-PCR)
- UniSTS:75898

SHGC-104985 (e-PCR)
- UniSTS:169093

RH76220 (e-PCR)
- UniSTS:91528

PMC111054P1 (e-PCR)
- UniSTS:270217

PMC111054P2 (e-PCR)
- UniSTS:270218

RH68271 (e-PCR)
- UniSTS:87949

Nf1 (e-PCR), detects polymorphism
- UniSTS:461980

L18228 (e-PCR)
- UniSTS:414

RH68548 (e-PCR)
- UniSTS:5024

GDB:371087 (e-PCR)
- UniSTS:156834

GDB:371100 (e-PCR)
- UniSTS:156835

GDB:371103 (e-PCR)
- UniSTS:156836

GDB:371120 (e-PCR)
- UniSTS:156837

GDB:371125 (e-PCR)
- UniSTS:156838

GDB:371128 (e-PCR)
- UniSTS:156839

GDB:371132 (e-PCR)
- UniSTS:156840

GDB:371135 (e-PCR)
- UniSTS:156841

GDB:179892 (e-PCR)
- UniSTS:155058

SHGC-57602 (e-PCR)
- UniSTS:37042

RH17724 (e-PCR)
- UniSTS:6323

D17S1166 (e-PCR), detects polymorphism
- UniSTS:149427

GDB:335505 (e-PCR)
- UniSTS:156599

GDB:270136 (e-PCR)
- UniSTS:156345

GDB:180293 (e-PCR)
- UniSTS:155068

RH98908 (e-PCR)
- UniSTS:86978

GDB:627944 (e-PCR)
- UniSTS:158405

PMC55792P1 (e-PCR)
- UniSTS:273352

PMC55792P2 (e-PCR)
- UniSTS:273353

GDB:204171 (e-PCR)
- UniSTS:156108

GDB:599487 (e-PCR)
- UniSTS:158162

NF1__6237 (e-PCR)
- UniSTS:464085

PMC321440P1 (e-PCR)
- UniSTS:273109

RH17711 (e-PCR)
- UniSTS:21464

RH78102 (e-PCR)
- UniSTS:55769

STS-N38894 (e-PCR)
- UniSTS:41186

GDB:180500 (e-PCR)
- UniSTS:155107

WI-9201 (e-PCR)
- UniSTS:65513

GDB:603640 (e-PCR)
- UniSTS:158187

GDB:603651 (e-PCR)
- UniSTS:158188

GDB:603666 (e-PCR)
- UniSTS:158190

GDB:603672 (e-PCR)
- UniSTS:158191

GDB:603686 (e-PCR)
- UniSTS:158192

GDB:603690 (e-PCR)
- UniSTS:158193

GDB:603694 (e-PCR)
- UniSTS:158194

GDB:603705 (e-PCR)
- UniSTS:158195

GDB:373693 (e-PCR)
- UniSTS:156923

D17S2103 (e-PCR)
- UniSTS:52222

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylethanolamine binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in Rac protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in Ras protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in Schwann cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in Schwann cell migration	IEA Inferred from Electronic Annotation more info
involved_in Schwann cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in adrenal gland development	ISS Inferred from Sequence or Structural Similarity more info
involved_in amygdala development	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in camera-type eye morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell communication	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to heat	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	IEA Inferred from Electronic Annotation more info
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in forebrain astrocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in forebrain morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in gamma-aminobutyric acid secretion, neurotransmission	IEA Inferred from Electronic Annotation more info
involved_in glutamate secretion, neurotransmission	IEA Inferred from Electronic Annotation more info
involved_in hair follicle maturation	IEA Inferred from Electronic Annotation more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in liver development	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in mast cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in mast cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in metanephros development	ISS Inferred from Sequence or Structural Similarity more info
involved_in myelination in peripheral nervous system	ISS Inferred from Sequence or Structural Similarity more info
involved_in myeloid leukocyte migration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of Rac protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Schwann cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Schwann cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of astrocyte differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fibroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mast cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neurotransmitter secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of osteoclast differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular associated smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in neural tube development	IEA Inferred from Electronic Annotation more info
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in observational learning	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoclast differentiation	IEA Inferred from Electronic Annotation more info
involved_in peripheral nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in pigmentation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mast cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bone resorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in regulation of glial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of long-term neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in regulation of long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic transmission, GABAergic	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in spinal cord development	ISS Inferred from Sequence or Structural Similarity more info
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in sympathetic nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in vascular associated smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in visual learning	ISS Inferred from Sequence or Structural Similarity more info
involved_in wound healing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neurofibromin

Names: neurofibromatosis 1; neurofibromatosis-related protein NF-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009018.1 RefSeqGene

Range

4951..287701

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_214

mRNA and Protein(s)

NM_000267.3 → NP_000258.1 neurofibromin isoform 2

See identical proteins and their annotated locations for NP_000258.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (2) missing an internal 21 aa segment, compared to isoform 1.

Source sequence(s)

AC135724, AK026658, CN415204, D12625, M82814

Consensus CDS

CCDS11264.1

UniProtKB/TrEMBL

A0A8I5KWR6

Related

ENSP00000348498.3, ENST00000356175.7

Conserved Domains (4) summary

cd05130
Location:1198 → 1530

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

smart00323
Location:1187 → 1536

RasGAP; GTPase-activator protein for Ras-like GTPases

cd13313
Location:1707 → 1816

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1581 → 1707

CRAL_TRIO_2; Divergent CRAL/TRIO domain
NM_001042492.3 → NP_001035957.1 neurofibromin isoform 1

See identical proteins and their annotated locations for NP_001035957.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), with an additional in-frame coding exon, represents the longest transcript and encodes the longest isoform (1). Studies suggest preferential C->U RNA editing of transcripts containing this exon.

Source sequence(s)

AC135724, AK026658, BP271334, BX391799, D12625, M89914

Consensus CDS

CCDS42292.1

UniProtKB/Swiss-Prot

O00662, P21359, Q14284, Q14930, Q14931, Q9UMK3

UniProtKB/TrEMBL

A0A8I5KWR6

Related

ENSP00000351015.4, ENST00000358273.9

Conserved Domains (3) summary

cd05130
Location:1198 → 1551

RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

cd13313
Location:1728 → 1837

PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

pfam13716
Location:1602 → 1736

CRAL_TRIO_2; Divergent CRAL/TRIO domain
NM_001128147.3 → NP_001121619.1 neurofibromin isoform 3

See identical proteins and their annotated locations for NP_001121619.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks multiple 3' exons and has an alternate 3' end, as compared to variant 1. The resulting isoform (3) has a much shorter and different C-terminus, and lacks ras-GTPase activating domain and SEC14 domain, compared to isoform 1.

Source sequence(s)

D12625, D42072, M82814

Consensus CDS

CCDS45645.1

UniProtKB/TrEMBL

A8K1M1

Related

ENSP00000412921.4, ENST00000431387.8