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Entry version 130 (08 May 2019)
Sequence version 1 (05 Jul 2004)
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Protein

NMDA receptor synaptonuclear signaling and neuronal migration factor

Gene

NSMF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.1 Publication

Miscellaneous

NSMF mRNAs expressed in the hippocampus exhibit a prominent dendritic localization which is mediated by a dendritic targeting element (DTE) residing in the 3'-untranslated region (3'UTR). Transport from dendrites to the nucleus is induced by NMDA receptor activation and results in a rapid stripping of synaptic contacts and a reduction of dendritic complexity (By similarity).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
NMDA receptor synaptonuclear signaling and neuronal migration factor
Alternative name(s):
Nasal embryonic luteinizing hormone-releasing hormone factor
Short name:
Nasal embryonic LHRH factor
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NSMF
Synonyms:NELF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29843 NSMF

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608137 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6X4W1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Nucleus, Postsynaptic cell membrane, Synapse, Synaptosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypogonadotropic hypogonadism 9 with or without anosmia (HH9)3 Publications
The disease is caused by mutations 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).1 Publication
Disease descriptionA 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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069967196R → H in HH9; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in FGFR1. 1 PublicationCorresponds to variant dbSNP:rs770597015Ensembl.1
Natural variantiVAR_023003480T → A in HH9; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918340EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi247 – 250RRKR → AAKA: Localizes predominantly in the cytoplasm. 1 Publication4
Mutagenesisi263 – 264RK → AA: Localizes both in the cytoplasm and the nucleus. 1 Publication2

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
26012

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
NSMF

MalaCards human disease database

More...
MalaCardsi
NSMF
MIMi614838 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165802

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
478 Kallmann syndrome
432 Normosmic congenital hypogonadotropic hypogonadism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134917144

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NSMF

Domain mapping of disease mutations (DMDM)

More...
DMDMi
71152011

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000967782 – 530NMDA receptor synaptonuclear signaling and neuronal migration factorAdd BLAST529

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycineBy similarity1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei204PhosphoserineBy similarity1
Modified residuei290PhosphoserineBy similarity1
Modified residuei292PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Proteolytically processed after NMDA receptor activation. Cleaved in a calcium-dependent and calpain-sensitive manner. Calpain cleavage is essential for the translocation process from dendrites to the nucleus (By similarity).By similarity

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6X4W1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6X4W1

PeptideAtlas

More...
PeptideAtlasi
Q6X4W1

PRoteomics IDEntifications database

More...
PRIDEi
Q6X4W1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
67783
67784 [Q6X4W1-2]
67785 [Q6X4W1-3]
67786 [Q6X4W1-4]
67787 [Q6X4W1-5]
67788 [Q6X4W1-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6X4W1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6X4W1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in adult and fetal brain. Weakly expressed in heart, liver, spleen, testis, small intestine, skeletal muscle, peripheral white blood cells and kidney.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165802 Expressed in 193 organ(s), highest expression level in dorsolateral prefrontal cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q6X4W1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6X4W1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044316

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with KPNA1; the interaction occurs in a calcium-independent manner after synaptic NMDA receptor stimulation and is required for nuclear import of NSMF but is competed by CABP1. Interacts (via the central NLS-containing motif region) with CABP1 (via EF-hands 1 and 2); the interaction occurs in a calcium-dependent manner after synaptic NMDA receptor stimulation and prevents the nuclear import of NSMF. Cannot be competed by calmodulin (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117485, 8 interactors

Protein interaction database and analysis system

More...
IntActi
Q6X4W1, 17 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000360530

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6X4W1

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 233Necessary and sufficient to elicit dendritic processes and synaptic contactsBy similarityAdd BLAST232

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi247 – 250Nuclear localization signal4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NSMF family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGJD Eukaryota
ENOG410YVK8 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000459

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231556

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6X4W1

Identification of Orthologs from Complete Genome Data

More...
OMAi
EDLILFW

Database of Orthologous Groups

More...
OrthoDBi
1247924at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6X4W1

TreeFam database of animal gene trees

More...
TreeFami
TF331286

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR033374 NSMF

The PANTHER Classification System

More...
PANTHERi
PTHR32061 PTHR32061, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6X4W1-1) [UniParc]FASTAAdd to basket
Also known as: NELF-v1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGAAASRRRA LRSEAMSSVA AKVRAARAFG EYLSQSHPEN RNGADHLLAD
60 70 80 90 100
AYSGHDGSPE MQPAPQNKRR LSLVSNGCYE GSLSEEPSIR KPAGEGPQPR
110 120 130 140 150
VYTISGEPAL LPSPEAEAIE LAVVKGRRQR HPHHHSQPLR ASPGGSREDV
160 170 180 190 200
SRPCQSWAGS RQGSKECPGC AQLAPGPTPR AFGLDQPPLP ETSGRRKKLE
210 220 230 240 250
RMYSVDRVSD DIPIRTWFPK ENLFSFQTAT TTMQAISVFR GYAERKRRKR
260 270 280 290 300
ENDSASVIQR NFRKHLRMVG SRRVKAQTFA ERRERSFSRS WSDPTPMKAD
310 320 330 340 350
TSHDSRDSSD LQSSHCTLDE AFEDLDWDTE KGLEAVACDT EGFVPPKVML
360 370 380 390 400
ISSKVPKAEY IPTIIRRDDP SIIPILYDHE HATFEDILEE IERKLNVYHK
410 420 430 440 450
GAKIWKMLIF CQGGPGHLYL LKNKVATFAK VEKEEDMIHF WKRLSRLMSK
460 470 480 490 500
VNPEPNVIHI MGCYILGNPN GEKLFQNLRT LMTPYRVTFE SPLELSAQGK
510 520 530
QMIETYFDFR LYRLWKSRQH SKLLDFDDVL
Length:530
Mass (Da):60,143
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7A18FDFD1F21A2D9
GO
Isoform 2 (identifier: Q6X4W1-2) [UniParc]FASTAAdd to basket
Also known as: NELF-v2

The sequence of this isoform differs from the canonical sequence as follows:
     236-237: Missing.

Show »
Length:528
Mass (Da):59,943
Checksum:i5F5BBEF6D681ABAB
GO
Isoform 3 (identifier: Q6X4W1-3) [UniParc]FASTAAdd to basket
Also known as: NELF-v3

The sequence of this isoform differs from the canonical sequence as follows:
     238-260: Missing.

Show »
Length:507
Mass (Da):57,339
Checksum:i66450F7F89841040
GO
Isoform 4 (identifier: Q6X4W1-4) [UniParc]FASTAAdd to basket
Also known as: NELF-v4

The sequence of this isoform differs from the canonical sequence as follows:
     278-307: Missing.

Show »
Length:500
Mass (Da):56,604
Checksum:i331136550FAD1DF0
GO
Isoform 5 (identifier: Q6X4W1-5) [UniParc]FASTAAdd to basket
Also known as: NELF-v5

The sequence of this isoform differs from the canonical sequence as follows:
     350-402: LISSKVPKAE...RKLNVYHKGA → VRPSPGSAPL...IPLGCLAARR
     403-530: Missing.

Show »
Length:402
Mass (Da):44,280
Checksum:i1D190ADD1D48A2EA
GO
Isoform 6 (identifier: Q6X4W1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     236-237: Missing.
     238-260: Missing.

Note: No experimental confirmation available.
Show »
Length:505
Mass (Da):57,139
Checksum:i62E57810A53AC45E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GUJ1A0A1B0GUJ1_HUMAN
NMDA receptor synaptonuclear-signal...
NSMF
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB55139 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069967196R → H in HH9; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in FGFR1. 1 PublicationCorresponds to variant dbSNP:rs770597015Ensembl.1
Natural variantiVAR_023003480T → A in HH9; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918340EnsemblClinVar.1
Natural variantiVAR_059699511L → V. Corresponds to variant dbSNP:rs34177733Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_014759236 – 237Missing in isoform 2 and isoform 6. 3 Publications2
Alternative sequenceiVSP_014760238 – 260Missing in isoform 3 and isoform 6. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_014761278 – 307Missing in isoform 4. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_014762350 – 402LISSK…YHKGA → VRPSPGSAPLHPEQDSAPTR VQPALPGTTQPSPAAWGRVS HRAIPLGCLAARR in isoform 5. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_014763403 – 530Missing in isoform 5. 1 PublicationAdd BLAST128

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY255128 mRNA Translation: AAP83576.1
AY255129 mRNA Translation: AAP83577.1
AY255130 mRNA Translation: AAP83578.1
AY255131 mRNA Translation: AAP83579.1
AY255132 mRNA Translation: AAP83580.1
AK027474 mRNA Translation: BAB55139.1 Different initiation.
AK074602 mRNA Translation: BAC11086.1
AL365502 Genomic DNA No translation available.
BC072412 mRNA Translation: AAH72412.1
BC110498 mRNA Translation: AAI10499.1
AL389944 mRNA Translation: CAB97524.1
AL389946 mRNA Translation: CAB97525.1
AL389945 mRNA Translation: CAB97542.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS48067.1 [Q6X4W1-6]
CCDS48068.1 [Q6X4W1-3]
CCDS48069.1 [Q6X4W1-1]
CCDS55357.1 [Q6X4W1-4]
CCDS7044.1 [Q6X4W1-2]

Protein sequence database of the Protein Information Resource

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PIRi
T17341

NCBI Reference Sequences

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RefSeqi
NP_001124441.1, NM_001130969.1 [Q6X4W1-1]
NP_001124442.1, NM_001130970.1 [Q6X4W1-3]
NP_001124443.1, NM_001130971.1 [Q6X4W1-6]
NP_001171535.1, NM_001178064.1 [Q6X4W1-4]
NP_056352.3, NM_015537.4 [Q6X4W1-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000265663; ENSP00000265663; ENSG00000165802 [Q6X4W1-2]
ENST00000371472; ENSP00000360527; ENSG00000165802 [Q6X4W1-2]
ENST00000371473; ENSP00000360528; ENSG00000165802 [Q6X4W1-4]
ENST00000371474; ENSP00000360529; ENSG00000165802 [Q6X4W1-6]
ENST00000371475; ENSP00000360530; ENSG00000165802 [Q6X4W1-1]
ENST00000437259; ENSP00000412007; ENSG00000165802 [Q6X4W1-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
26012

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:26012

UCSC genome browser

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UCSCi
uc004cmz.4 human [Q6X4W1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY255128 mRNA Translation: AAP83576.1
AY255129 mRNA Translation: AAP83577.1
AY255130 mRNA Translation: AAP83578.1
AY255131 mRNA Translation: AAP83579.1
AY255132 mRNA Translation: AAP83580.1
AK027474 mRNA Translation: BAB55139.1 Different initiation.
AK074602 mRNA Translation: BAC11086.1
AL365502 Genomic DNA No translation available.
BC072412 mRNA Translation: AAH72412.1
BC110498 mRNA Translation: AAI10499.1
AL389944 mRNA Translation: CAB97524.1
AL389946 mRNA Translation: CAB97525.1
AL389945 mRNA Translation: CAB97542.1
CCDSiCCDS48067.1 [Q6X4W1-6]
CCDS48068.1 [Q6X4W1-3]
CCDS48069.1 [Q6X4W1-1]
CCDS55357.1 [Q6X4W1-4]
CCDS7044.1 [Q6X4W1-2]
PIRiT17341
RefSeqiNP_001124441.1, NM_001130969.1 [Q6X4W1-1]
NP_001124442.1, NM_001130970.1 [Q6X4W1-3]
NP_001124443.1, NM_001130971.1 [Q6X4W1-6]
NP_001171535.1, NM_001178064.1 [Q6X4W1-4]
NP_056352.3, NM_015537.4 [Q6X4W1-2]

3D structure databases

SMRiQ6X4W1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117485, 8 interactors
IntActiQ6X4W1, 17 interactors
STRINGi9606.ENSP00000360530

PTM databases

iPTMnetiQ6X4W1
PhosphoSitePlusiQ6X4W1

Polymorphism and mutation databases

BioMutaiNSMF
DMDMi71152011

Proteomic databases

jPOSTiQ6X4W1
PaxDbiQ6X4W1
PeptideAtlasiQ6X4W1
PRIDEiQ6X4W1
ProteomicsDBi67783
67784 [Q6X4W1-2]
67785 [Q6X4W1-3]
67786 [Q6X4W1-4]
67787 [Q6X4W1-5]
67788 [Q6X4W1-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265663; ENSP00000265663; ENSG00000165802 [Q6X4W1-2]
ENST00000371472; ENSP00000360527; ENSG00000165802 [Q6X4W1-2]
ENST00000371473; ENSP00000360528; ENSG00000165802 [Q6X4W1-4]
ENST00000371474; ENSP00000360529; ENSG00000165802 [Q6X4W1-6]
ENST00000371475; ENSP00000360530; ENSG00000165802 [Q6X4W1-1]
ENST00000437259; ENSP00000412007; ENSG00000165802 [Q6X4W1-3]
GeneIDi26012
KEGGihsa:26012
UCSCiuc004cmz.4 human [Q6X4W1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26012
DisGeNETi26012

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NSMF
GeneReviewsiNSMF
HGNCiHGNC:29843 NSMF
HPAiHPA044316
MalaCardsiNSMF
MIMi608137 gene
614838 phenotype
neXtProtiNX_Q6X4W1
OpenTargetsiENSG00000165802
Orphaneti478 Kallmann syndrome
432 Normosmic congenital hypogonadotropic hypogonadism
PharmGKBiPA134917144

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGJD Eukaryota
ENOG410YVK8 LUCA
GeneTreeiENSGT00390000000459
HOGENOMiHOG000231556
InParanoidiQ6X4W1
OMAiEDLILFW
OrthoDBi1247924at2759
PhylomeDBiQ6X4W1
TreeFamiTF331286

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NSMF human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Nasal_embryonic_LHRH_factor

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
26012

Protein Ontology

More...
PROi
PR:Q6X4W1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165802 Expressed in 193 organ(s), highest expression level in dorsolateral prefrontal cortex
ExpressionAtlasiQ6X4W1 baseline and differential
GenevisibleiQ6X4W1 HS

Family and domain databases

InterProiView protein in InterPro
IPR033374 NSMF
PANTHERiPTHR32061 PTHR32061, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNSMF_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6X4W1
Secondary accession number(s): Q2TB96
, Q6X4V7, Q6X4V8, Q6X4V9, Q8N2M2, Q96SY1, Q9NPM4, Q9NPP3, Q9NPS3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 5, 2004
Last modified: May 8, 2019
This is version 130 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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