Q9UMU3 (Q9UMU3_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names

Submitted name:
Neurofibromin EMBL AAA56765.1

Gene names

Name:

NF1 EMBL AAA56765.1

Organism

Homo sapiens (Human) EMBL AAA56765.1

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	20 AA.
Sequence status	Fragment.
Protein existence	Evidence at transcript level

Ontologies

Gene Ontology (GO)
Biological_process	MAPK cascade Inferred from electronic annotation. Source: Compara Ras protein signal transduction Inferred from electronic annotation. Source: Compara actin cytoskeleton organization Inferred from electronic annotation. Source: Compara adrenal gland development Inferred from electronic annotation. Source: Compara artery morphogenesis Inferred from electronic annotation. Source: Compara camera-type eye morphogenesis Inferred from electronic annotation. Source: Compara cerebral cortex development Inferred from electronic annotation. Source: Compara collagen fibril organization Inferred from electronic annotation. Source: Compara forebrain astrocyte development Inferred from electronic annotation. Source: Compara forebrain morphogenesis Inferred from electronic annotation. Source: Compara heart development Inferred from electronic annotation. Source: Compara liver development Inferred from electronic annotation. Source: Compara metanephros development Inferred from electronic annotation. Source: Compara myelination in peripheral nervous system Inferred from electronic annotation. Source: Compara negative regulation of MAP kinase activity Inferred from electronic annotation. Source: Compara negative regulation of Rac protein signal transduction Inferred from electronic annotation. Source: Compara negative regulation of angiogenesis Inferred from electronic annotation. Source: Compara negative regulation of astrocyte differentiation Inferred from electronic annotation. Source: Compara negative regulation of cell migration Inferred from electronic annotation. Source: Compara negative regulation of cell-matrix adhesion Inferred from electronic annotation. Source: Compara negative regulation of endothelial cell proliferation Inferred from electronic annotation. Source: Compara negative regulation of fibroblast proliferation Inferred from electronic annotation. Source: Compara negative regulation of neuroblast proliferation Inferred from electronic annotation. Source: Compara negative regulation of neurotransmitter secretion Inferred from electronic annotation. Source: Compara negative regulation of oligodendrocyte differentiation Inferred from electronic annotation. Source: Compara negative regulation of osteoclast differentiation Inferred from electronic annotation. Source: Compara negative regulation of transcription factor import into nucleus Inferred from electronic annotation. Source: Compara neural tube development Inferred from electronic annotation. Source: Compara osteoblast differentiation Inferred from electronic annotation. Source: Compara phosphatidylinositol 3-kinase cascade Inferred from electronic annotation. Source: Compara pigmentation Inferred from electronic annotation. Source: Compara positive regulation of Ras GTPase activity Inferred from electronic annotation. Source: Compara positive regulation of adenylate cyclase activity Inferred from electronic annotation. Source: Compara positive regulation of endothelial cell proliferation Inferred from electronic annotation. Source: Compara positive regulation of neuron apoptotic process Inferred from electronic annotation. Source: Compara regulation of bone resorption Inferred from electronic annotation. Source: Compara regulation of long-term neuronal synaptic plasticity Inferred from electronic annotation. Source: Compara regulation of synaptic transmission, GABAergic Inferred from electronic annotation. Source: Compara response to hypoxia Inferred from electronic annotation. Source: Compara skeletal muscle tissue development Inferred from electronic annotation. Source: Compara smooth muscle tissue development Inferred from electronic annotation. Source: Compara spinal cord development Inferred from electronic annotation. Source: Compara sympathetic nervous system development Inferred from electronic annotation. Source: Compara visual learning Inferred from electronic annotation. Source: Compara wound healing Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara
Molecular_function	GTPase activator activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Experimental info
	Non-terminal residue	20	1	EMBL AAA56765.1

Sequences

	Sequence		Length	Mass (Da)
	Q9UMU3 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 7D0AFD6D8B766985	FASTA	20	2,356
	10 20 MAAHRPVEWV QAVVSRFDEQ

References

[1]	"cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product." Marchuk D.A., Saulino A.M., Tavakkol R., Swaroop M., Wallace M.R., Andersen L.B., Mitchell A.L., Gutmann D.H., Boguski M.S., Collins F.S. Genomics 11:931-940(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE.
[2]	"DNA sequences in the promoter region of the NF1 gene are highly conserved between human and mouse." Hajra A., Martin-Gallardo A., Tarle S.A., Freedman M., Wilson-Gunn S., Bernards A., Collins F.S. Genomics 21:649-652(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U17084 Genomic DNA. Translation: AAA56765.1.
IPI	IPI00220513.
UniGene	Hs.113577.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9UMU3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Gene expression databases
ArrayExpress	Q9UMU3.
Bgee	Q9UMU3.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	NF1. human.

Entry information

Entry name

Q9UMU3_HUMAN

Accession

Primary (citable) accession number: Q9UMU3

Entry history

Integrated into UniProtKB/TrEMBL:	May 1, 2000
Last sequence update:	May 1, 2000
Last modified:	April 3, 2013
This is version 44 of the entry and version 1 of the sequence. [Complete history]

Entry status

Unreviewed (UniProtKB/TrEMBL)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.