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    ZZEF1 zinc finger ZZ-type and EF-hand domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 23140, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZZEF1provided by HGNC
    Official Full Name
    zinc finger ZZ-type and EF-hand domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:29027
    See related
    Ensembl:ENSG00000074755 MIM:619459; AllianceGenome:HGNC:29027
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZZZ4
    Summary
    Predicted to enable ubiquitin-like protein ligase activity. Predicted to act upstream of or within several processes, including glutamatergic synaptic transmission; regulation of peptidyl-tyrosine phosphorylation; and visual learning. Predicted to be located in cell surface; postsynapse; and presynaptic active zone. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in small intestine (RPKM 12.0), colon (RPKM 10.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p13.2
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4004445..4143030, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3893649..4032280, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3907739..4046324, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:3831158-3832357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3833185-3834129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3844399-3844898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8025 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3856267-3857115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3860613-3861517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3879079-3879915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3879916-3880751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3885316-3886231 Neighboring gene long intergenic non-protein coding RNA 1975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3910389-3911356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11531 Neighboring gene RNA, 5S ribosomal pseudogene 434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11532 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4046085-4046636 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4046637-4047189 Neighboring gene uncharacterized LOC124903898 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4072633-4072788 Neighboring gene cytochrome b5 domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4079793-4080294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4080295-4080794 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:4081807-4083006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4089981-4090980 Neighboring gene ankyrin repeat and FYVE domain containing 1 Neighboring gene stem-loop binding protein pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. ZZEF1 is a Histone Reader and Transcriptional Coregulator of Krüppel-Like Factors. Yu Y, et al. J Mol Biol, 2021 Jan 22. PMID 33227311, Free PMC Article
    2. Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia. McGrath LM, et al. Am J Med Genet B Neuropsychiatr Genet, 2013 Dec. PMID 24039173, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. Ishikawa K, et al. DNA Res, 1997 Oct 31. PMID 9455477
    4. Systematic Affinity Purification Coupled to Mass Spectrometry Identified p62 as Part of the Cannabinoid Receptor CB2 Interactome. Sharaf A, et al. Front Mol Neurosci, 2019. PMID 31616248, Free PMC Article
    5. Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development. Van Alstyne M, et al. Biochem Biophys Res Commun, 2018 Nov 30. PMID 30352685, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10821, FLJ23789, FLJ45574, KIAA0399, MGC166929

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone reader activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables lysine-acetylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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
    		  

    General protein information

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

    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)

    1. NM_015113.4 → NP_055928.3  zinc finger ZZ-type and EF-hand domain-containing protein 1

      See identical proteins and their annotated locations for NP_055928.3

      Status: VALIDATED

      Source sequence(s)
      AB007859, AC087292, AK127482, BC047285, BC067099
      Consensus CDS
      CCDS11043.1
      UniProtKB/Swiss-Prot
      A7MBM5, O43149, Q6NXG0, Q6ZRA1, Q6ZSF4, Q9NVB9
      Related
      ENSP00000371051.2, ENST00000381638.7
      Conserved Domains (5) summary
      cd08667
      Location:251 → 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:1830 → 1877
      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:1781 → 1828
      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.

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4004445..4143030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256561.3 → XP_005256618.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X3

      Conserved Domains (5) summary
      cd08667
      Location:251 → 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:1831 → 1878
      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:1782 → 1829
      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:1120 → 1190
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    2. XM_017024383.2 → XP_016879872.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X2

      Conserved Domains (5) summary
      cd08667
      Location:251 → 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:1830 → 1877
      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:1781 → 1828
      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.

    3. XM_017024382.2 → XP_016879871.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X1

    4. XM_017024384.2 → XP_016879873.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X7

    5. XM_047435675.1 → XP_047291631.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X4

    6. XM_047435676.1 → XP_047291632.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X5

    7. XM_011523759.3 → XP_011522061.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X6

      Conserved Domains (3) summary
      cd08667
      Location:251 → 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 ...
      cl00049
      Location:1120 → 1190
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    RNA

    1. XR_007065288.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      3893649..4032280 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315577.1 → XP_054171552.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X3

    2. XM_054315576.1 → XP_054171551.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X2

    3. XM_054315575.1 → XP_054171550.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X1

    4. XM_054315581.1 → XP_054171556.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X7

    5. XM_054315578.1 → XP_054171553.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X4

    6. XM_054315579.1 → XP_054171554.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X5

    7. XM_054315580.1 → XP_054171555.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X6

    RNA

    1. XR_008484800.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43149.6 GenPept UniProtKB/Swiss-Prot:O43149

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