Zzef1 zinc finger, ZZ-type with EF hand domain 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Zzef1provided by MGI
Official Full Name: zinc finger, ZZ-type with EF hand domain 1provided by MGI
Primary source: MGI:MGI:2444286
See related: Ensembl:ENSMUSG00000055670 AllianceGenome:MGI:2444286
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: NSPA; mKIAA0399; 8430405D05Rik; C130099L13Rik
Summary: Enables ubiquitin-like protein ligase activity. Acts upstream of or within several processes, including glutamatergic synaptic transmission; regulation of peptidyl-tyrosine phosphorylation; and visual learning. Located in cell surface; postsynapse; and presynaptic active zone. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; immune system; and nervous system. Orthologous to human ZZEF1 (zinc finger ZZ-type and EF-hand domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in large intestine adult (RPKM 16.1), small intestine adult (RPKM 15.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B4; 11 44.56 cM

Exon count:: 56

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (72686976..72817946)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (72796150..72927120)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Zzef1 encodes for a protein that was named Neuronal Superface P Antigen (NSPA). NSPA is highly expressed in the hippocampus. The phenotype of Zzef1 knock-in mice includes decreased NMDAR activity and LTP by electrophysiology and impaired memory.
Title: Pathogenicity of lupus anti-ribosomal P antibodies: role of cross-reacting neuronal surface P antigen in glutamatergic transmission and plasticity in a mouse model.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3)

General gene information

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Markers

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

GDB:197863 (e-PCR)
- UniSTS:155977

NoName (e-PCR)
- UniSTS:236631

RH127191 (e-PCR)
- UniSTS:209795

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables histone reader activity	ISO Inferred from Sequence Orthology more info
enables histone reader activity	ISS Inferred from Sequence or Structural Similarity more info
enables lysine-acetylated histone binding	ISO Inferred from Sequence Orthology more info
enables lysine-acetylated histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables methylated histone binding	ISO Inferred from Sequence Orthology more info
enables methylated histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin-like protein ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of synaptic plasticity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptic transmission, glutamatergic	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic active zone	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger ZZ-type and EF-hand domain-containing protein 1

Names: KIAA0399-like protein human; neuronal superface P antigen

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_001045536.2 → NP_001039001.1 zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AL663082

Consensus CDS

CCDS36218.1

UniProtKB/TrEMBL

E9Q5W5

Related

ENSMUSP00000068790.6, ENSMUST00000069395.7

Conserved Domains (5) summary

cd08667
Location:250 → 380

APC10-ZZEF1; APC10/DOC1-like domain of uncharacterized Zinc finger ZZ-type and EF-hand domain-containing protein 1 (ZZEF1) and homologs

cd00051
Location:94 → 141

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd02249
Location:1828 → 1875

ZZ; Zinc finger, ZZ type. Zinc finger present in dystrophin, CBP/p300 and many other proteins. The ZZ motif coordinates one or two zinc ions and most likely participates in ligand binding or molecular scaffolding. Many proteins containing ZZ motifs have ...

cd02343
Location:1779 → 1826

ZZ_EF; Zinc finger, ZZ type. Zinc finger present in proteins with an EF_hand motif. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding.

cl00049
Location:1119 → 1189

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
NM_001427298.1 → NP_001414227.1 zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform 1

Status: VALIDATED

Source sequence(s)

AL663082

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_000077.7 Reference GRCm39 C57BL/6J

Range

72686976..72817946

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532601.4 → XP_006532664.1 zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X1

UniProtKB/TrEMBL

A0A140LJ04, E9Q5W5

Related

ENSMUSP00000147028.2, ENSMUST00000207107.2

Conserved Domains (5) summary

cd08667
Location:250 → 380

APC10-ZZEF1; APC10/DOC1-like domain of uncharacterized Zinc finger ZZ-type and EF-hand domain-containing protein 1 (ZZEF1) and homologs

cd00051
Location:94 → 141

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd02249
Location:1828 → 1875

ZZ; Zinc finger, ZZ type. Zinc finger present in dystrophin, CBP/p300 and many other proteins. The ZZ motif coordinates one or two zinc ions and most likely participates in ligand binding or molecular scaffolding. Many proteins containing ZZ motifs have ...

cd02343
Location:1779 → 1826

ZZ_EF; Zinc finger, ZZ type. Zinc finger present in proteins with an EF_hand motif. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding.

cl00049
Location:1119 → 1189

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
XM_030245704.2 → XP_030101564.1 zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X5

Conserved Domains (2) summary

cd02249
Location:444 → 491

ZZ; Zinc finger, ZZ type. Zinc finger present in dystrophin, CBP/p300 and many other proteins. The ZZ motif coordinates one or two zinc ions and most likely participates in ligand binding or molecular scaffolding. Many proteins containing ZZ motifs have ...

cd02343
Location:395 → 442

ZZ_EF; Zinc finger, ZZ type. Zinc finger present in proteins with an EF_hand motif. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding.
XM_011248827.3 → XP_011247129.1 zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X3

Conserved Domains (2) summary

cd02249
Location:590 → 637

ZZ; Zinc finger, ZZ type. Zinc finger present in dystrophin, CBP/p300 and many other proteins. The ZZ motif coordinates one or two zinc ions and most likely participates in ligand binding or molecular scaffolding. Many proteins containing ZZ motifs have ...

cd02343
Location:541 → 588

ZZ_EF; Zinc finger, ZZ type. Zinc finger present in proteins with an EF_hand motif. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding.
XM_006532603.4 → XP_006532666.1 zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X4

Conserved Domains (2) summary

cd02249
Location:444 → 491

ZZ; Zinc finger, ZZ type. Zinc finger present in dystrophin, CBP/p300 and many other proteins. The ZZ motif coordinates one or two zinc ions and most likely participates in ligand binding or molecular scaffolding. Many proteins containing ZZ motifs have ...

cd02343
Location:395 → 442

ZZ_EF; Zinc finger, ZZ type. Zinc finger present in proteins with an EF_hand motif. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding.