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

Summary

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Official Symbol: NF1provided by HGNC
Official Full Name: neurofibromin 1provided by HGNC
Primary source: HGNC:7765
See related: Ensembl:ENSG00000196712; HPRD:01203; MIM:613113; Vega:OTTHUMG00000132871
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]

Genomic context

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Location :: 17q11.2

Sequence :: Chromosome: 17; NC_000017.10 (29421945..29704695)

See NF1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The NF1 gene constitutes the most frequent target of somatic mutations so far known in sporadic pheochromocytomas.
Title: Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.
NF1 and SOX9 are the most under- and over-expressed genes in NF1-mutated tumors, respectively.
Title: Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Direct NF1 inactivation is infrequent in de novo acute myeloid leukemia and may be a secondary event probably involved in leukemic progression.
Title: Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.
We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation
Title: A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.
A significant association was apparent between possession of a splice-site mutation and the presence of brain gliomas and malignant peripheral nerve sheath tumors in neurofibromatosis type 1 patients.
Title: Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Ten NF1 variants deemed to be potentially pathogenic by virtue of significantly elevated levels of activated GTP-bound Ras in comparison to wild-type NF1 protein.
Title: Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
Nf1/LIMK2 interaction and inhibition allows to directly connect neurofibromatosis type I to actin cytoskeleton remodeling.
Title: Nf1 RasGAP inhibition of LIMK2 mediates a new cross-talk between Ras and Rho pathways.
Our results suggest a leukemogenic role of miR-370 through NF1 downregulation in AML cells
Title: Integration of SNP and mRNA arrays with microRNA profiling reveals that MiR-370 is upregulated and targets NF1 in acute myeloid leukemia.
Our findings unveil a new epigenetic regulatory process in which Z-DNA/MeCP2/NF1 interaction leads to transcriptional suppression, loss of which results in ADAM-12 overexpression in breast cancer cells.
Title: Epigenetic regulation by Z-DNA silencer function controls cancer-associated ADAM-12 expression in breast cancer: cross-talk between MeCP2 and NF1 transcription factor family.
identified 23 novel nonallelic homologous recombination-mediated type-2 NF1 deletions
Title: Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.

Submit: New GeneRIF Correction See all (196)

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

Neurofibromatosis 1 (NF1) is characterized by multiple cafe au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.

Diagnosis Testing

The diagnosis of NF1 is usually based on clinical findings. Heterozygous mutations of NF1 are responsible for the vast majority of cases of neurofibromatosis. Molecular genetic testing of NF1 is rarely needed for diagnosis.

Genetic Counseling

NF1 is inherited in an autosomal dominant manner. Half of affected individuals have NF1 as the result of a de novo NF1 mutation. The offspring of an affected individual are at a 50% risk of inheriting the altered NF1 gene, but the disease manifestations are extremely variable, even within a family. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in a family is known.

References

PMID: 20301288

Neurofibromatosis-Noonan syndrome

MIM: 601321

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P21359	P05067	APP	HPRD	PubMed
P21359	Q99615	DNAJC7	HPRD	PubMed
P21359	Q05586	GRIN1	HPRD	PubMed
P21359	O15399	GRIN2D	HPRD	PubMed
P21359	P01112	HRAS	HPRD	PubMed
P21359	P34741	SDC2	HPRD	PubMed
P21359	P62380	TBPL1	HPRD	PubMed
BioGRID:110836	BioGRID:109501	HRAS	BioGRID	PubMed	Two-hybrid
BioGRID:110836	BioGRID:122474	MIS12	BioGRID	PubMed	Co-purification
BioGRID:110836	BioGRID:110739	MYOG	BioGRID	PubMed	Reconstituted Complex
BioGRID:110836	BioGRID:121014	NSFL1C	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110836	BioGRID:117433	NSL1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110836	BioGRID:111426	POLR2A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110836	BioGRID:119602	SIRT7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110836	BioGRID:110262	SMAD2	BioGRID	PubMed	Reconstituted Complex
BioGRID:110836	BioGRID:110263	SMAD3	BioGRID	PubMed	Reconstituted Complex
BioGRID:110836	BioGRID:110264	SMAD4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110836	BioGRID:112481	SMARCA4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110836	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110836	BioGRID:125325	TIRAP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110836	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110836	BioGRID:113258	VCP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Pathways from BioSystems

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ATF-2 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
ATF-2 transcription factor network, organism-specific biosystem
ATF-2 transcription factor network
FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
FOXA2 and FOXA3 transcription factor networks
Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
MAPK signaling pathway, organism-specific biosystem (from KEGG)
MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
MAPK signaling pathway, conserved biosystem (from KEGG)
MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
Syndecan-2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
Syndecan-2-mediated signaling events, organism-specific biosystem
Syndecan-2-mediated signaling events
pilocytic astrocytoma, organism-specific biosystem (from WikiPathways)
pilocytic astrocytoma, organism-specific biosystemIn this pathway shows the signaling in the development and behavior of the disease. receptor tyrosine kinase(rtk) is expressed in tumor endothelial cells of adult glioblastomas.NF1 and BRAF genes in...

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

Genotypes

See NF1 SNP Geneview Report
See NF1 SNP Genotype Report
See NF1 SNP Variation Viewer Report

Related pseudogene(s)

9 found Review record(s) in Gene

Homology

Homologs of the NF1 gene: The NF1 gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, zebrafish, fruit fly, mosquito, M.oryzae, and N.crassa.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

FLJ21220, DKFZp686J1293

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
Ras protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
Schwann cell development	ISS Inferred from Sequence or Structural Similarity more info
actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
adrenal gland development	ISS Inferred from Sequence or Structural Similarity more info
artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
brain development	ISS Inferred from Sequence or Structural Similarity more info
camera-type eye morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
cell communication	ISS Inferred from Sequence or Structural Similarity more info
cerebral cortex development	ISS Inferred from Sequence or Structural Similarity more info
cognition	IMP Inferred from Mutant Phenotype more info	PubMed
collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
extracellular matrix organization	ISS Inferred from Sequence or Structural Similarity more info
forebrain astrocyte development	ISS Inferred from Sequence or Structural Similarity more info
forebrain morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
heart development	ISS Inferred from Sequence or Structural Similarity more info
liver development	ISS Inferred from Sequence or Structural Similarity more info
metanephros development	ISS Inferred from Sequence or Structural Similarity more info
myelination in peripheral nervous system	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of MAP kinase activity	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of Rac protein signal transduction	IEA Inferred from Electronic Annotation more info
negative regulation of Ras protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
negative regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
negative regulation of astrocyte differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
negative regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of fibroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of neuroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of neurotransmitter secretion	IEA Inferred from Electronic Annotation more info
negative regulation of oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of osteoclast differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription factor import into nucleus	ISS Inferred from Sequence or Structural Similarity more info
neural tube development	IEA Inferred from Electronic Annotation more info
osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
peripheral nervous system development	ISS Inferred from Sequence or Structural Similarity more info
phosphatidylinositol 3-kinase cascade	ISS Inferred from Sequence or Structural Similarity more info
pigmentation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of Ras GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of Ras GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of adenylate cyclase activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
regulation of Ras GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of bone resorption	ISS Inferred from Sequence or Structural Similarity more info
regulation of cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info
regulation of glial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
regulation of long-term neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info
regulation of synaptic transmission, GABAergic	IEA Inferred from Electronic Annotation more info
response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
smooth muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
spinal cord development	ISS Inferred from Sequence or Structural Similarity more info
sympathetic nervous system development	ISS Inferred from Sequence or Structural Similarity more info
visual learning	ISS Inferred from Sequence or Structural Similarity more info
wound healing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
axon	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
dendrite	IDA Inferred from Direct Assay more info	PubMed
intrinsic to internal side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: neurofibromin

Names: neurofibromin; 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

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/Swiss-Prot

P21359

Related

ENSP00000348498, OTTHUMP00000163772, ENST00000356175, OTTHUMT00000256352

Conserved Domains (2) summary

cd00170
Location:1560 – 1706
Blast Score: 152

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

cd05130
Location:1203 – 1528
Blast Score: 1678

RasGAP_Neurofibromin; Neurofibromin is the product of the neurofibromatosis type 1 gene (NF1) and shares a region of similarity with catalytic domain of the mammalian p120RasGAP protein and an extended similarity with the Saccharomyces cerevisiae RasGAP proteins Ira1 and Ira2. ...
NM_001042492.2 → NP_001035957.1 neurofibromin isoform 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

P21359

Related

ENSP00000351015, OTTHUMP00000163771, ENST00000358273, OTTHUMT00000256351

Conserved Domains (2) summary

cd00170
Location:1581 – 1727
Blast Score: 152

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

cd05130
Location:1203 – 1549
Blast Score: 1666

RasGAP_Neurofibromin; Neurofibromin is the product of the neurofibromatosis type 1 gene (NF1) and shares a region of similarity with catalytic domain of the mammalian p120RasGAP protein and an extended similarity with the Saccharomyces cerevisiae RasGAP proteins Ira1 and Ira2. ...
NM_001128147.2 → NP_001121619.1 neurofibromin isoform 3

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/Swiss-Prot

P21359

Related

ENSP00000412921, OTTHUMP00000261007, ENST00000431387, OTTHUMT00000256353

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p10 Primary Assembly

Range

29421945..29704695

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

25632559..25915183

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018928.1 Alternate CHM1_1.0

Range

29483992..29766432

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB195812.1	BAD98998.1
genomic	AB195813.1	BAD98999.1
genomic	ABBA01014961.1 (13890..34387)	None
genomic	ABBA01014962.1	None
genomic	ABBA01014963.1	None
genomic	ABBA01014964.1	None
genomic	ABBA01014965.1	None
genomic	ABBA01014966.1	None
genomic	ABBA01014967.1	None
genomic	ABBA01014968.1	None
genomic	AC004222.1 (4..36985)	None
genomic	AC079915.7 (41576..145148)	None
genomic	AC134669.4 (18919..113200)	None
genomic	AC135724.9 (82157..85519)	None
genomic	AC138207.3	None
genomic	AC139072.3 (4..18938)	None
genomic	AMYH01008320.1 (67788..295330)	None
genomic	AMYH01008321.1	None
genomic	AY796305.1	AAV50004.1
genomic	CH471147.2	EAW80267.1
		EAW80268.1
		EAW80269.1
		EAW80270.1
		EAW80271.1
		EAW80272.1
		EAW80273.1
		EAW80274.1
		EAW80275.1
genomic	U17084.1	AAA56765.1
genomic	U17656.1	AAB48373.1
genomic	U17659.1	AAB48374.1
genomic	U17662.1	AAB48375.1
genomic	U17668.1	AAB48376.1
genomic	U17673.1	AAB48377.1
genomic	U17677.1	AAB48378.1
genomic	U17690.1	AAB48379.1
		AAB48380.1
genomic	X73654.1	CAA52021.1
genomic	Y07853.1	CAA69179.1
mRNA	AB209336.1	BAD92573.1
mRNA	AF055023.1	None
mRNA	AF086346.1	None
mRNA	AK024873.1	None
mRNA	AK026658.1	None
mRNA	AK289936.1	BAF82625.1
mRNA	AK301970.1	BAG63383.1
mRNA	AK302063.1	BAG63453.1
mRNA	BC144643.1	None
mRNA	BP271334.1	None
mRNA	BX391799.2	None
mRNA	BX537850.1	CAD97858.1
mRNA	CN415204.1	None
mRNA	D10490.1	BAA01371.1
mRNA	D12625.1	BAA02150.1
mRNA	D42072.1	BAA07669.1
mRNA	DA299151.1	None
mRNA	DB094344.1	None
mRNA	M38106.1	AAA74897.1
mRNA	M38107.1	AAB59558.1
mRNA	M60496.1	AAA59928.1
mRNA	M60915.1	AAA59921.1
		AAA59922.1
mRNA	M61213.1	AAA59923.1
mRNA	M82814.1	AAA59924.1
mRNA	M89914.1	AAA59925.1
mRNA	S51751.1	AAB24636.1