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

    Gene ID: 23140, updated on 10-Dec-2024

    Summary

    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
    Enables histone reader activity; lysine-acetylated histone binding activity; and methylated histone binding activity. Predicted to be involved in chromatin organization. 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, Dec 2024]
    Expression
    Ubiquitous expression in small intestine (RPKM 12.0), colon (RPKM 10.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ZZEF1 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4004445..4143030, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3893649..4032280, complement)
    RS_2024_09 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 histone mRNA binding protein pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (9 hits/1268 screens)

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ10821, FLJ23789, FLJ45574, KIAA0399, MGC166929

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding  
    enables histone reader activity PubMed 
    enables lysine-acetylated histone binding PubMed 
    enables methylated histone binding PubMed 
    enables protein binding PubMed 
    enables zinc ion binding  

    General protein information

    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)

    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.

    mRNA and Protein(s)

    1. NM_015113.4NP_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:251380
      APC10-ZZEF1; APC10/DOC1-like domain of uncharacterized Zinc finger ZZ-type and EF-hand domain-containing protein 1 (ZZEF1) and homologs
      cd00051
      Location:94141
      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:18301877
      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:17811828
      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:11191189
      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_2024_08

    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_005256561.3XP_005256618.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X3

      Conserved Domains (5) summary
      cd08667
      Location:251380
      APC10-ZZEF1; APC10/DOC1-like domain of uncharacterized Zinc finger ZZ-type and EF-hand domain-containing protein 1 (ZZEF1) and homologs
      cd00051
      Location:94141
      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:18311878
      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:17821829
      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:11201190
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    2. XM_017024383.2XP_016879872.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X2

      Conserved Domains (5) summary
      cd08667
      Location:251380
      APC10-ZZEF1; APC10/DOC1-like domain of uncharacterized Zinc finger ZZ-type and EF-hand domain-containing protein 1 (ZZEF1) and homologs
      cd00051
      Location:94141
      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:18301877
      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:17811828
      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:11191189
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    3. XM_017024382.2XP_016879871.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X1

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

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

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

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

      Conserved Domains (3) summary
      cd08667
      Location:251380
      APC10-ZZEF1; APC10/DOC1-like domain of uncharacterized Zinc finger ZZ-type and EF-hand domain-containing protein 1 (ZZEF1) and homologs
      cd00051
      Location:94141
      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:11201190
      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_054315577.1XP_054171552.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X3

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

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

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

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

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

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

    RNA

    1. XR_008484800.1 RNA Sequence

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