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ZFAT zinc finger and AT-hook domain containing [ Homo sapiens (human) ]

Gene ID: 57623, updated on 2-Oct-2018

Summary

Official Symbol
ZFATprovided by HGNC
Official Full Name
zinc finger and AT-hook domain containingprovided by HGNC
Primary source
HGNC:HGNC:19899
See related
Ensembl:ENSG00000066827 MIM:610931; Vega:OTTHUMG00000164321
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AITD3; ZFAT1; ZNF406
Summary
This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
Expression
Broad expression in placenta (RPKM 4.4), kidney (RPKM 1.1) and 17 other tissues See more
Orthologs

Genomic context

See ZFAT in Genome Data Viewer
Location:
8q24.22
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (134477788..134713049, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (135490031..135725292, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927822 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene ZFAT antisense RNA 1 Neighboring gene uncharacterized LOC102723694 Neighboring gene microRNA 30b Neighboring gene microRNA 30d

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autoimmune thyroid disease 3
MedGen: C1842444 OMIM: 608175 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1485, MGC126815, MGC126817

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spongiotrophoblast layer development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
zinc finger protein ZFAT
Names
zinc finger gene in autoimmune thyroid disease
zinc finger protein 406
zinc-finger gene in AITD susceptibility region

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016356.1 RefSeqGene

    Range
    5001..240262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001029939.3NP_001025110.2  zinc finger protein ZFAT isoform 2

    See identical proteins and their annotated locations for NP_001025110.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1. Variants 2, 3, and 6 all encode the same isoform (2).
    Source sequence(s)
    AB167740, AC015599, AC135075, BC098405, BM685256
    Consensus CDS
    CCDS43768.2
    UniProtKB/Swiss-Prot
    Q9P243
    UniProtKB/TrEMBL
    Q4KMQ4
    Related
    ENSP00000427831.1, OTTHUMP00000226456, ENST00000520727.5, OTTHUMT00000378270
    Conserved Domains (4) summary
    COG5048
    Location:255414
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:261281
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:259281
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:273295
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001167583.2NP_001161055.1  zinc finger protein ZFAT isoform 2

    See identical proteins and their annotated locations for NP_001161055.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1. Variants 2, 3, and 6 all encode the same isoform (2).
    Source sequence(s)
    AC015599, AC135075, AK300324, BC098405, BM685256
    Consensus CDS
    CCDS43768.2
    UniProtKB/TrEMBL
    B7Z6H1, Q4KMQ4
    Related
    ENSP00000428483.1, OTTHUMP00000226461, ENST00000520214.5, OTTHUMT00000378276
    Conserved Domains (4) summary
    COG5048
    Location:255414
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:261281
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:259281
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:273295
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001174157.1NP_001167628.1  zinc finger protein ZFAT isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AC015599, AC087045, AK300324, BC143519, BM685256, DC333809
    Consensus CDS
    CCDS55276.1
    UniProtKB/Swiss-Prot
    Q9P243
    UniProtKB/TrEMBL
    B7Z6H1
    Related
    ENSP00000429091.1, OTTHUMP00000226463, ENST00000523399.5, OTTHUMT00000378278
    Conserved Domains (4) summary
    COG5048
    Location:205364
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:211231
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:209231
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:223245
    zf-H2C2_2; Zinc-finger double domain
  4. NM_001174158.1NP_001167629.1  zinc finger protein ZFAT isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon, and lacks an in-frame segment in the 3' coding region, compared to variant 1. The resulting isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC015599, AC135075, BC012989, BC098405
    Consensus CDS
    CCDS55275.1
    UniProtKB/TrEMBL
    E9PBN4, Q4KMQ4, Q6PJQ2
    Related
    ENSP00000427879.1, OTTHUMP00000226455, ENST00000520356.5, OTTHUMT00000378269
    Conserved Domains (3) summary
    sd00017
    Location:261281
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:259281
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:273295
    zf-H2C2_2; Zinc-finger double domain
  5. NM_001289394.1NP_001276323.1  zinc finger protein ZFAT isoform 2

    See identical proteins and their annotated locations for NP_001276323.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (2) which has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 6 all encode the same isoform (2).
    Source sequence(s)
    AB167739, AK300324, AL832066, BM685256
    Consensus CDS
    CCDS43768.2
    UniProtKB/Swiss-Prot
    Q9P243
    UniProtKB/TrEMBL
    B7Z6H1
    Conserved Domains (4) summary
    COG5048
    Location:255414
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:261281
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:259281
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:273295
    zf-H2C2_2; Zinc-finger double domain
  6. NM_020863.3NP_065914.2  zinc finger protein ZFAT isoform 1

    See identical proteins and their annotated locations for NP_065914.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB040918, AC135075, AL832066, BC046180, BC101768
    Consensus CDS
    CCDS47924.1
    UniProtKB/Swiss-Prot
    Q9P243
    Related
    ENSP00000367069.3, OTTHUMP00000226458, ENST00000377838.7, OTTHUMT00000378272
    Conserved Domains (4) summary
    COG5048
    Location:267426
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:273293
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:271293
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:285307
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_110323.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate internal exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB040918, AK300324, AL832066, BC025423, BC101766, BM685256
    Related
    ENST00000523243.5, OTTHUMT00000378274

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    134477788..134713049 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517203.1XP_011515505.1  zinc finger protein ZFAT isoform X2

    See identical proteins and their annotated locations for XP_011515505.1

    UniProtKB/Swiss-Prot
    Q9P243
    Conserved Domains (4) summary
    COG5048
    Location:255414
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:261281
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:259281
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:273295
    zf-H2C2_2; Zinc-finger double domain
  2. XM_011517204.2XP_011515506.1  zinc finger protein ZFAT isoform X3

    Conserved Domains (4) summary
    COG5048
    Location:205364
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:211231
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:209231
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:223245
    zf-H2C2_2; Zinc-finger double domain
  3. XM_011517206.2XP_011515508.1  zinc finger protein ZFAT isoform X4

    UniProtKB/TrEMBL
    F8W7M8
    Conserved Domains (3) summary
    sd00017
    Location:261281
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:259281
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:273295
    zf-H2C2_2; Zinc-finger double domain
  4. XM_017013716.1XP_016869205.1  zinc finger protein ZFAT isoform X1

RNA

  1. XR_001745569.1 RNA Sequence

  2. XR_928343.2 RNA Sequence

  3. XR_001745568.1 RNA Sequence

  4. XR_001745570.1 RNA Sequence

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