Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nsmfprovided by MGI
Official Full Name: NMDA receptor synaptonuclear signaling and neuronal migration factorprovided by MGI
Primary source: MGI:MGI:1861755
See related: Ensembl:ENSMUSG00000006476 AllianceGenome:MGI:1861755
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nelf; Jacob
Summary: Predicted to enable calcium-dependent protein binding activity. Involved in cellular response to gonadotropin stimulus. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; dorsal root ganglion; liver; lung; and sensory organ. Human ortholog(s) of this gene implicated in hypogonadotropic hypogonadism 7 with or without anosmia and hypogonadotropic hypogonadism 9 with or without anosmia. Orthologous to human NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in cortex adult (RPKM 150.5), frontal lobe adult (RPKM 133.1) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 16.94 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (24944370..24952893)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (25054361..25062881)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigation of subfertility in the female Nsmf knockout mouse.
Title: Investigation of subfertility in the female Nsmf knockout mouse.
A Jacob/nsmf gene knockout does not protect against acute hypoxia- and NMDA-induced excitotoxic cell death.
Title: A Jacob/nsmf gene knockout does not protect against acute hypoxia- and NMDA-induced excitotoxic cell death.
RNA polymerase II pausing factor NELF in CD8(+) T cells promotes antitumor immunity.
Title: RNA polymerase II pausing factor NELF in CD8(+) T cells promotes antitumor immunity.
Epithelial NELF guards intestinal barrier function to ameliorate colitis by maintaining junctional integrity.
Title: Epithelial NELF guards intestinal barrier function to ameliorate colitis by maintaining junctional integrity.
NSMF promotes the replication stress-induced DNA damage response for genome maintenance.
Title: NSMF promotes the replication stress-induced DNA damage response for genome maintenance.
NELF Regulates a Promoter-Proximal Step Distinct from RNA Pol II Pause-Release.
Title: NELF Regulates a Promoter-Proximal Step Distinct from RNA Pol II Pause-Release.
BDNF application can rescue the morphological deficits in hippocampal pyramidal neurons devoid of Jacob. Taken together, the data suggest that the absence of Jacob in early development interrupts a positive feedback loop between BDNF signaling
Title: A Jacob/Nsmf Gene Knockout Results in Hippocampal Dysplasia and Impaired BDNF Signaling in Dendritogenesis.
NELF knockout is associated with impaired pubertal development and subfertility.
Title: NELF knockout is associated with impaired pubertal development and subfertility.
Findings strongly indicate that NELF is part of the PPARalpha-mediated transcription regulatory network that maintains metabolic homeostasis in cardiomyocytes.
Title: Negative elongation factor controls energy homeostasis in cardiomyocytes.
Jacob operates as a mobile hub that docks NMDA receptor-derived signalosomes to nuclear target sites.
Title: When synaptic proteins meet the genome: transcriptional regulation in cell death and plasticity by the synapto-nuclear messenger Jacob.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

General gene information

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Markers

UniSTS:224573 (e-PCR)
- UniSTS:224573

NoName (e-PCR)
- UniSTS:224232

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to amino acid stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to amino acid stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to electrical stimulus	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuron migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in postsynapse to nucleus signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in apical dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in cortical cytoskeleton	ISO Inferred from Sequence Orthology 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 cytoplasm	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
located_in euchromatin	ISO Inferred from Sequence Orthology more info
located_in euchromatin	ISS Inferred from Sequence or Structural Similarity more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
located_in nuclear matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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 nucleus	ISO Inferred from Sequence Orthology more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	ISO Inferred from Sequence Orthology more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: NMDA receptor synaptonuclear signaling and neuronal migration factor

Names: juxtasynaptic attractor of caldendrin on dendritic boutons protein; nasal embryonic LHRH factor; nasal embryonic luteinizing hormone-releasing hormone factor

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.

mRNA and Protein(s)

NM_001039386.2 → NP_001034475.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform A

See identical proteins and their annotated locations for NP_001034475.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform A.

Source sequence(s)

AL732585

Consensus CDS

CCDS15745.1

UniProtKB/Swiss-Prot

A2AJ93, A2AJ94, Q8BPT0, Q8C9R5, Q99NF2, Q9DBF4, Q9ERZ1

UniProtKB/TrEMBL

F6TKU5

Related

ENSMUSP00000097908.5, ENSMUST00000100334.11
NM_001039387.2 → NP_001034476.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform B

See identical proteins and their annotated locations for NP_001034476.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate, in-frame exon, compared to variant 1. The resulting protein (isoform B) is shorter when it is compared to isoform A.

Source sequence(s)

AL732585

Consensus CDS

CCDS15746.1

UniProtKB/TrEMBL

F6TKU5

Related

ENSMUSP00000006646.9, ENSMUST00000006646.15
NM_001177654.2 → NP_001171125.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform D

See identical proteins and their annotated locations for NP_001171125.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate, in-frame exon and uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform C) is shorter when it is compared to isoform A.

Source sequence(s)

AL732585

UniProtKB/TrEMBL

F6TKU5, Q3TNG2
NM_001177655.2 → NP_001171126.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform E

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks two alternate, in-frame exons, compared to variant 1. The resulting protein (isoform E) is shorter when it is compared to isoform A.

Source sequence(s)

AL732585

Consensus CDS

CCDS50523.1

UniProtKB/TrEMBL

A2AJ96, F6TKU5

Related

ENSMUSP00000110030.2, ENSMUST00000114388.8
NM_001421788.1 → NP_001408717.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform F

Status: VALIDATED

Description

Transcript Variant: This variant (6) encodes the longest isoform (F).

Source sequence(s)

AL732585

UniProtKB/TrEMBL

F6TKU5
NM_001421790.1 → NP_001408719.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform G

Status: VALIDATED

Source sequence(s)

AL732585

UniProtKB/TrEMBL

F6TKU5
NM_001421791.1 → NP_001408720.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform H

Status: VALIDATED

Source sequence(s)

AL732585

UniProtKB/TrEMBL

F6TKU5
NM_001421793.1 → NP_001408722.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform I

Status: VALIDATED

Source sequence(s)

AL732585

UniProtKB/TrEMBL

A2AJ92, F6TKU5

Related

ENSMUSP00000074022.8, ENSMUST00000074422.14
NM_001421796.1 → NP_001408725.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform J

Status: VALIDATED

Source sequence(s)

AL732585

UniProtKB/TrEMBL

F6TKU5
NM_001421798.1 → NP_001408727.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform K

Status: VALIDATED

Source sequence(s)

AL732585

UniProtKB/TrEMBL

Q3TY90
NM_001421800.1 → NP_001408729.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform L

Status: VALIDATED

Source sequence(s)

AL732585
NM_001421802.1 → NP_001408731.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform M

Status: VALIDATED

Source sequence(s)

AL732585
NM_001421803.1 → NP_001408732.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform N

Status: VALIDATED

Source sequence(s)

AL732585

Related

ENSMUST00000141866.3
NM_020276.4 → NP_064672.2 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform C

See identical proteins and their annotated locations for NP_064672.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate, in-frame exon, compared to variant 1. The resulting protein (isoform B) is shorter when it is compared to isoform A.

Source sequence(s)

AL732585

Consensus CDS

CCDS15747.1

UniProtKB/TrEMBL

F6TKU5

Related

ENSMUSP00000099995.5, ENSMUST00000102931.11

RNA

NR_185326.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL732585

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

24944370..24952893

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498201.3 → XP_006498264.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X2

UniProtKB/TrEMBL

F6TKU5
XM_006498202.5 → XP_006498265.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X3

UniProtKB/TrEMBL

A2AJ95, F6TKU5

Related

ENSMUSP00000110028.2, ENSMUST00000114386.8
XM_006498203.5 → XP_006498266.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X4

UniProtKB/TrEMBL

F6TKU5
XM_030251903.2 → XP_030107763.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X5
XM_030251905.2 → XP_030107765.1 NMDA receptor synaptonuclear signaling and neuronal migration factor isoform X7