NMDA receptor synaptonuclear signaling and neuronal migration factor - Homo sapiens

NMDA receptor synaptonuclear signaling and neuronal migration factor (Homo sapiens)

FASTA TEXT XML

Subcellular Location Biology & Function Disease Associations Interactions Cross-References

General Information

Protein Information
Protein Name	NMDA receptor synaptonuclear signaling and neuronal migration factor
Accession Code	Q6X4W1
Gene	NSMF
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 530)
MGAAASRRRALRSEAMSSVAAKVRAARAFGEYLSQSHPENRNGADHLLADAYSGHDGSPEMQPAPQNKRRLSLVSNGCYEGSLSEEPSIRKPAGEGPQPRVYTISGEPALLPSPEAEAIELAVVKGRRQR HPHHHSQPLRASPGGSREDVSRPCQSWAGSRQGSKECPGCAQLAPGPTPRAFGLDQPPLPETSGRRKKLERMYSVDRVSDDIPIRTWFPKENLFSFQTATTTMQAISVFRGYAERKRRKRENDSASVIQR NFRKHLRMVGSRRVKAQTFAERRERSFSRSWSDPTPMKADTSHDSRDSSDLQSSHCTLDEAFEDLDWDTEKGLEAVACDTEGFVPPKVMLISSKVPKAEYIPTIIRRDDPSIIPILYDHEHATFEDILEE IERKLNVYHKGAKIWKMLIFCQGGPGHLYLLKNKVATFAKVEKEEDMIHFWKRLSRLMSKVNPEPNVIHIMGCYILGNPNGEKLFQNLRTLMTPYRVTFESPLELSAQGKQMIETYFDFRLYRLWKSRQH SKLLDFDDVL

Subcellular Location

Description
Nucleus {Experimental EvidencePubMed:20025934}. Nucleus envelope {By Similarity}. Nucleus membrane {By Similarity}. Nucleus matrix {By Similarity}. Cytoplasm {Experimental EvidencePubMed:20025934}. Cytoplasm, cell cortex {By Similarity}. Cytoplasm, cytoskeleton {By Similarity}. Cell membrane {Experimental EvidencePubMed:20025934}; Peripheral membrane protein {Experimental EvidencePubMed:20025934}. Cell projection, dendrite {By Similarity}. Synapse {By Similarity}. Synapse, synaptosome {By Similarity}. Postsynaptic density {By Similarity}. Membrane {By Similarity}. Note=Found on the outside of the luteinizing-hormone-releasing hormone (LHRH) cell membrane and axons projecting from the olfactory pit and epithelium. Associates with transcriptionally active chromatin regions. Detected at the nuclear membranes of CA1 neurons. Cortical cytoskeleton. Localized in proximal apical dendrites. Colocalizes with CABP1 in dendrites and dendritic spines. Myristoylation is a prerequisite for extranuclear localization. Translocates from dendrites to the nucleus during NMDA receptor-dependent long-term potentiation (LTP) induction of synaptic transmission at Schaffer collateral/CA1 synapses of hippocampal primary neurons and in a importin-dependent manner (By similarity). {By Similarity}.
Position in the Nuclear Envelope
Location	Location ID	Description
Nuclear Envelope	SL-0178	The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space.
Nuclear Membrane	SL-0182	The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane.
Membrane Topology
Topology	Source	Annotation Type
Lipid-Anchored	UniProt	By Similarity {ECO:0000250}
Assigned Ontology terms

Cellular Component	Anchoring Junction (GO:0070161) Apical Dendrite (GO:0097440) Cortical Cytoskeleton (GO:0030863) Cytoplasm (GO:0005737) Dendrite (GO:0030425) Euchromatin (GO:0000791) Membrane (GO:0016020) Neuron Projection (GO:0043005) Nuclear Envelope (GO:0005635) Nuclear Matrix (GO:0016363) Nuclear Membrane (GO:0031965) Nucleoplasm (GO:0005654) Nucleus (GO:0005634) Perikaryon (GO:0043204) Plasma Membrane (GO:0005886) Postsynaptic Density (GO:0014069) Synapse (GO:0045202)

Biology & Function

Description
Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells. {Experimental EvidencePubMed:20025934}.
Assigned Ontology terms

Biological Process	Cellular Response To Amino Acid Stimulus (GO:0071230) Cellular Response To Electrical Stimulus (GO:0071257) Cellular Response To Gonadotropin Stimulus (GO:0071371) Positive Regulation Of Neuron Migration (GO:2001224) Positive Regulation Of Protein Dephosphorylation (GO:0035307) Regulation Of Dendrite Morphogenesis (GO:0048814) Regulation Of Neuron Apoptotic Process (GO:0043523) Regulation Of Neuronal Synaptic Plasticity (GO:0048168)
Molecular Function	Calcium-Dependent Protein Binding (GO:0048306)

Disease associations

Description
Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {Experimental EvidencePubMed:15362570, Experimental EvidencePubMed:21700882, Experimental EvidencePubMed:23643382}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in NSMF as well as in other HH-associated genes including FGFR1 (PubMed:23643382). {Experimental EvidencePubMed:23643382}.
Database Associations
OMIM	608137 614838
DisGeNET	26012

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (2 interactors)

Partner (NucEnvDB)		IntAct	Confidence score
P02545	Lamin-A/C	EBI-25874947	0.56
P35240	Merlin	EBI-25878370	0.56
Interactions with other proteins (36 interactors)

Partner (UniProt)		IntAct	Confidence score
Q5VTD9	Zinc finger protein Gfi-1b (Growth factor independent protein 1B) (Potential regulator of CDKN1A translocated in CML)	EBI-953002	0.00
Q9UJV3	Probable E3 ubiquitin-protein ligase MID2 (EC 2.3.2.27) (Midin-2) (Midline defect 2) (Midline-2) (RING finger protein 60) (RING-type E3 ubiquitin transferase MID2) (Tripartite motif-containing protein 1)	EBI-24321902	0.56
Q08379	Golgin subfamily A member 2 (130 kDa cis-Golgi matrix protein) (GM130) (GM130 autoantigen) (Golgin-95)	EBI-24262865	0.56
Q8ND90	Paraneoplastic antigen Ma1 (37 kDa neuronal protein) (Neuron- and testis-specific protein 1)	EBI-25254367	0.56
O75031	Heat shock factor 2-binding protein	EBI-24504154	0.56
Q12933	TNF receptor-associated factor 2 (EC 2.3.2.27) (E3 ubiquitin-protein ligase TRAF2) (RING-type E3 ubiquitin transferase TRAF2) (Tumor necrosis factor type 2 receptor-associated protein 3)	EBI-22730042	0.56
Q9BPX5	Actin-related protein 2/3 complex subunit 5-like protein (Arp2/3 complex 16 kDa subunit 2) (ARC16-2)	EBI-22734617	0.56
P29377	Protein S100-G (Calbindin-D9k) (S100 calcium-binding protein G) (Vitamin D-dependent calcium-binding protein, intestinal) (CABP)	EBI-22734564	0.56
Q5W5X9	Tetratricopeptide repeat protein 23 (TPR repeat protein 23) (Cervical cancer proto-oncogene 8 protein) (HCC-8)	EBI-22757664	0.56
O14950	Myosin regulatory light chain 12B (MLC-2A) (MLC-2) (Myosin regulatory light chain 2-B, smooth muscle isoform) (Myosin regulatory light chain 20 kDa) (MLC20) (Myosin regulatory light chain MRLC2) (SHUJUN-1)	EBI-24722799	0.56
Q16825	Tyrosine-protein phosphatase non-receptor type 21 (EC 3.1.3.48) (Protein-tyrosine phosphatase D1)	EBI-24373467	0.56
Q86Z20	Coiled-coil domain-containing protein 125 (Protein kenae)	EBI-24390896	0.56
Q15654	Thyroid receptor-interacting protein 6 (TR-interacting protein 6) (TRIP-6) (Opa-interacting protein 1) (OIP-1) (Zyxin-related protein 1) (ZRP-1)	EBI-24392928	0.56
Q9BS40	Latexin (Endogenous carboxypeptidase inhibitor) (ECI) (Protein MUM) (Tissue carboxypeptidase inhibitor) (TCI)	EBI-24413700	0.56
O95273	Cyclin-D1-binding protein 1 (Grap2 and cyclin-D-interacting protein) (Human homolog of Maid)	EBI-24439262	0.56
Q9UBB9	Tuftelin-interacting protein 11 (Septin and tuftelin-interacting protein 1) (STIP-1)	EBI-24441101	0.56
A6NEM1	Golgin subfamily A member 6-like protein 9	EBI-24443988	0.56
Q9BVG8	Kinesin-like protein KIFC3	EBI-24451566	0.56
P57075	Ubiquitin-associated and SH3 domain-containing protein A (Cbl-interacting protein 4) (CLIP4) (Suppressor of T-cell receptor signaling 2) (STS-2) (T-cell ubiquitin ligand 1) (TULA-1)	EBI-24573458	0.56
P25791	Rhombotin-2 (Cysteine-rich protein TTG-2) (LIM domain only protein 2) (LMO-2) (T-cell translocation protein 2)	EBI-24576651	0.56
O14512	Suppressor of cytokine signaling 7 (SOCS-7) (Nck, Ash and phospholipase C gamma-binding protein) (Nck-associated protein 4) (NAP-4)	EBI-24601500	0.56
Q96SI1	BTB/POZ domain-containing protein KCTD15 (Potassium channel tetramerization domain-containing protein 15)	EBI-21881639	0.35
Q5XPI4	E3 ubiquitin-protein ligase RNF123 (EC 2.3.2.27) (Kip1 ubiquitination-promoting complex protein 1) (RING finger protein 123) (RING-type E3 ubiquitin transferase RNF123)	EBI-21881639	0.35
Q5TEU4	Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.-.-.-) (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5) (Putative methyltransferase NDUFAF5) (EC 2.1.1.-)	EBI-21881639	0.35
Q06330	Recombining binding protein suppressor of hairless (CBF-1) (J kappa-recombination signal-binding protein) (RBP-J kappa) (RBP-J) (RBP-JK) (Renal carcinoma antigen NY-REN-30)	EBI-21881639	0.35
G5E9A7	Dystrophia myotonica WD repeat-containing protein (Dystrophia myotonica-containing WD repeat motif, isoform CRA_a)	EBI-25842713	0.56
P14136	Glial fibrillary acidic protein (GFAP)	EBI-25858284	0.56
P19404	NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (EC 7.1.1.2) (NADH-ubiquinone oxidoreductase 24 kDa subunit)	EBI-25876878	0.56
P07196	Neurofilament light polypeptide (NF-L) (68 kDa neurofilament protein) (Neurofilament triplet L protein)	EBI-25877605	0.56
P29474	Nitric oxide synthase, endothelial (EC 1.14.13.39) (Constitutive NOS) (cNOS) (EC-NOS) (Endothelial NOS) (eNOS) (NOS type III) (NOSIII)	EBI-25878762	0.56
O76024	Wolframin	EBI-25898453	0.56
O60333	Kinesin-like protein KIF1B (Klp)	EBI-25915530	0.56
Q9Y3C5	RING finger protein 11	EBI-25918897	0.56
Q8WXH2	Junctophilin-3 (JP-3) (Junctophilin type 3) (Trinucleotide repeat-containing gene 22 protein)	EBI-25927865	0.56
Q7Z699	Sprouty-related, EVH1 domain-containing protein 1 (Spred-1) (hSpred1)	EBI-25931866	0.56
P42858	Huntingtin (Huntington disease protein) (HD protein) [Cleaved into: Huntingtin, myristoylated N-terminal fragment]	EBI-25954663	0.56

Cross-References

Database	Links
UNIPROT	Q6X4W1 Q2TB96 Q6X4V7 Q6X4V8 Q6X4V9 Q8N2M2 Q96SY1 Q9NPM4 Q9NPP3 Q9NPS3
OMIM	608137 614838
DisGeNET	26012

NMDA receptor synaptonuclear signaling and neuronal migration factor (Homo sapiens)

General Information

Protein Information

Subcellular Location

Description Show

Position in the Nuclear Envelope

Membrane Topology

Assigned Ontology terms

Biology & Function

Description Hide

Assigned Ontology terms

Disease associations

Description

Database Associations

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (2 interactors)

Interactions with other proteins (36 interactors)

Cross-References

Database

Links

Description

Description