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

Gene ID: 23140, updated on 26-Nov-2021

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
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
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:
55
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (4004445..4143030, complement)
105.20201022 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 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Neighboring gene long intergenic non-protein coding RNA 1975 Neighboring gene RNA, 5S ribosomal pseudogene 434 Neighboring gene cytochrome b5 domain containing 2 Neighboring gene ankyrin repeat and FYVE domain containing 1 Neighboring gene stem-loop binding protein pseudogene

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

Phenotypes

Associated conditions

Description Tests
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.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 transcription coactivator 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 positive regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 

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)

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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_015113.4NP_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
    O43149
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005256561.2XP_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_017024383.1XP_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_017024382.1XP_016879871.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X1

  4. XM_017024384.1XP_016879873.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X5

  5. XM_011523759.2XP_011522061.1  zinc finger ZZ-type and EF-hand domain-containing protein 1 isoform X4

    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_001752455.1 RNA Sequence

  2. XR_429813.2 RNA Sequence

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