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    NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor [ Homo sapiens (human) ]

    Gene ID: 26012, updated on 5-Mar-2024

    Summary

    Official Symbol
    NSMFprovided by HGNC
    Official Full Name
    NMDA receptor synaptonuclear signaling and neuronal migration factorprovided by HGNC
    Primary source
    HGNC:HGNC:29843
    See related
    Ensembl:ENSG00000165802 MIM:608137; AllianceGenome:HGNC:29843
    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
    HH9; NELF
    Summary
    The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
    Expression
    Broad expression in brain (RPKM 43.0), kidney (RPKM 13.5) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NSMF in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137447570..137459334, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149698122..149709468, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140342022..140353786, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene exonuclease 3'-5' domain containing 3 Neighboring gene uncharacterized LOC124902354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140323354-140324108 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:140330497-140330751 Neighboring gene Sharpr-MPRA regulatory region 12030 Neighboring gene NADPH oxidase activator 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140343721-140344920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140346657-140347540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140347541-140348422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140349307-140350188 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140351970-140352667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140355491-140356424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140356425-140357357 Neighboring gene microRNA 7114 Neighboring gene patatin like phospholipase domain containing 7 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140377541-140378740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140389307-140389807 Neighboring gene 9q34.3 PNPLA7 recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140438353-140438854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140443963-140444464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20628 Neighboring gene uncharacterized LOC124902317 Neighboring gene mitochondrial ribosomal protein L41

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC125369

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-dependent protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to amino acid stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to electrical stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to gonadotropin stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein dephosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neuronal synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in apical dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cortical cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of euchromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear envelope ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    NMDA receptor synaptonuclear signaling and neuronal migration factor
    Names
    nasal embryonic LHRH factor
    nasal embryonic luteinizing hormone-releasing hormone factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_021362.1 RefSeqGene

      Range
      5001..16765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130969.3NP_001124441.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform a

      See identical proteins and their annotated locations for NP_001124441.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL365502
      Consensus CDS
      CCDS48069.1
      UniProtKB/Swiss-Prot
      Q2TB96, Q6X4V7, Q6X4V8, Q6X4V9, Q6X4W1, Q8N2M2, Q96SY1, Q9NPM4, Q9NPP3, Q9NPS3
      Related
      ENSP00000360530.3, ENST00000371475.9
    2. NM_001130970.2NP_001124442.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform c

      See identical proteins and their annotated locations for NP_001124442.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AW072125, AY255130, BM023184, CN306732
      Consensus CDS
      CCDS48068.1
      UniProtKB/Swiss-Prot
      Q6X4W1
      Related
      ENSP00000412007.1, ENST00000437259.5
    3. NM_001130971.2NP_001124443.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform d

      See identical proteins and their annotated locations for NP_001124443.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AW072125, AY255128, BC110498, BM023184, CN306732
      Consensus CDS
      CCDS48067.1
      UniProtKB/Swiss-Prot
      Q6X4W1
      Related
      ENSP00000360529.3, ENST00000371474.7
    4. NM_001178064.2NP_001171535.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform e

      See identical proteins and their annotated locations for NP_001171535.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (e) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AW072125, AY255131, BM023184, CN306732
      Consensus CDS
      CCDS55357.1
      UniProtKB/Swiss-Prot
      Q6X4W1
      Related
      ENSP00000360528.3, ENST00000371473.7
    5. NM_015537.5NP_056352.3  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform b

      See identical proteins and their annotated locations for NP_056352.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AW072125, AY255128, BC072412, BM023184, CN306732
      Consensus CDS
      CCDS7044.1
      UniProtKB/Swiss-Prot
      Q6X4W1
      Related
      ENSP00000265663.7, ENST00000265663.12

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137447570..137459334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266062.6XP_005266119.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X3

    2. XM_005266061.6XP_005266118.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X1

      See identical proteins and their annotated locations for XP_005266118.1

    3. XM_011518496.4XP_011516798.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X2

    4. XM_011518497.3XP_011516799.2  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X4

    5. XM_017014597.3XP_016870086.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149698122..149709468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362656.1XP_054218631.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X3

    2. XM_054362654.1XP_054218629.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X1

    3. XM_054362655.1XP_054218630.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X2

    4. XM_054362658.1XP_054218633.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X5

    5. XM_054362657.1XP_054218632.1  NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X4