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ZGRF1 zinc finger GRF-type containing 1 [ Homo sapiens (human) ]

Gene ID: 55345, updated on 3-Apr-2024

Summary

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Official Symbol
ZGRF1provided by HGNC
Official Full Name
zinc finger GRF-type containing 1provided by HGNC
Primary source
HGNC:HGNC:25654
See related
Ensembl:ENSG00000138658 AllianceGenome:HGNC:25654
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
C4orf21
Summary
The encoded protein contains GRF zinc finger (zf-GRF) and transmembrane domains. GRF zinc fingers are found in a number of DNA-binding proteins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]
Expression
Broad expression in bone marrow (RPKM 3.0), testis (RPKM 2.5) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
4q25
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (112539339..112636909, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (115847675..115945477, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (113460495..113558065, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15640 Neighboring gene uncharacterized LOC124900760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:113438107-113438987 Neighboring gene NEUROG2 and ZGRF1 antisense RNA 1 Neighboring gene VISTA enhancer hs981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15642 Neighboring gene ribosomal protein L23a pseudogene 94 Neighboring gene H3 histone pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21833 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:113564861-113564962 Neighboring gene La ribonucleoprotein 7, transcriptional regulator Neighboring gene miR-302/367 cluster host gene Neighboring gene microRNA 302d Neighboring gene microRNA 367

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. ZGRF1 promotes end resection of DNA homologous recombination via forming complex with BRCA1/EXO1. Yan S, et al. Cell Death Discov, 2021 Sep 22. PMID 34552057, Free PMC Article
  2. The ZGRF1 Helicase Promotes Recombinational Repair of Replication-Blocking DNA Damage in Human Cells. Brannvoll A, et al. Cell Rep, 2020 Jul 7. PMID 32640219, Free PMC Article
  3. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. Peter B, et al. PLoS One, 2016. PMID 27120335, Free PMC Article
  4. A Comprehensive Analysis of Common and Rare Variants to Identify Adiposity Loci in Hispanic Americans: The IRAS Family Study (IRASFS). Gao C, et al. PLoS One, 2015. PMID 26599207, Free PMC Article
  5. A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans. Kwak SH, et al. Hum Mol Genet, 2014 Aug 15. PMID 24722205, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The ZGRF1 Helicase Promotes Recombinational Repair of Replication-Blocking DNA Damage in Human Cells.
    Title: The ZGRF1 Helicase Promotes Recombinational Repair of Replication-Blocking DNA Damage in Human Cells.
  2. Two novel loci IDH1 and ZGRF1 are associated with adiposity. [meta-analysis]
    Title: A Comprehensive Analysis of Common and Rare Variants to Identify Adiposity Loci in Hispanic Americans: The IRAS Family Study (IRASFS).
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
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
A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
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

  • FLJ11331, FLJ33237, FLJ44066, DKFZp313L226, DKFZp434C0927

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5'-3' DNA helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
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 DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
  
involved_in double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in recombinational repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in recombinational repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
5'-3' DNA helicase ZGRF1; protein ZGRF1
Names
GRF-type zinc finger domain-containing protein 1
NP_001337326.1
NP_060862.3
XP_005263172.1
XP_011530393.1
XP_011530394.1
XP_011530396.1
XP_011530398.1
XP_011530399.1
XP_011530400.1
XP_011530401.1
XP_016863858.1
XP_016863859.1
XP_047271865.1
XP_047271866.1
XP_047271867.1
XP_047271868.1
XP_047271869.1
XP_047271870.1
XP_047271871.1
XP_047271872.1
XP_047271873.1
XP_047271874.1
XP_047271875.1
XP_047271876.1
XP_047271877.1
XP_047271878.1
XP_047271879.1
XP_054206389.1
XP_054206390.1
XP_054206391.1
XP_054206392.1
XP_054206393.1
XP_054206394.1
XP_054206395.1
XP_054206396.1
XP_054206397.1
XP_054206398.1
XP_054206399.1
XP_054206400.1
XP_054206401.1
XP_054206402.1
XP_054206403.1
XP_054206404.1
XP_054206405.1
XP_054206406.1
XP_054206407.1
XP_054206408.1
XP_054206409.1
XP_054206410.1
XP_054206411.1
XP_054206412.1
XP_054206413.1

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.

Genomic

  1. NG_053121.1 RefSeqGene

    Range
    5087..102657
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350397.2 → NP_001337326.1  5'-3' DNA helicase ZGRF1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC023886
    Conserved Domains (4) summary
    pfam06839
    Location:1289 → 1333
    zf-GRF; GRF zinc finger
    pfam10382
    Location:4 → 73
    DUF2439; Protein of unknown function (DUF2439)
    pfam13087
    Location:1797 → 1981
    AAA_12; AAA domain
    cl26261
    Location:1591 → 2003
    AAA_11; AAA domain

  2. NM_018392.5 → NP_060862.3  5'-3' DNA helicase ZGRF1 isoform 1

    See identical proteins and their annotated locations for NP_060862.3

    Status: REVIEWED

    Source sequence(s)
    AK126054, AK299831, AL708767, BC044799, BF056790, BM721145, CN297341, DA199760
    Consensus CDS
    CCDS3700.2
    UniProtKB/Swiss-Prot
    B3KQX2, B4DSN6, B4DYU8, E9PDE1, G5EA02, Q6ZU11, Q86YA3, Q9NSW3, Q9NUJ4
    Related
    ENSP00000424737.1, ENST00000505019.6
    Conserved Domains (5) summary
    COG1112
    Location:1739 → 2057
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam06839
    Location:1347 → 1391
    zf-GRF; GRF zinc finger
    pfam10382
    Location:4 → 73
    DUF2439; Protein of unknown function (DUF2439)
    pfam13086
    Location:1614 → 1844
    AAA_11; AAA domain
    pfam13087
    Location:1855 → 2039
    AAA_12; AAA domain

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    112539339..112636909 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415917.1 → XP_047271873.1  protein ZGRF1 isoform X10

  2. XM_047415914.1 → XP_047271870.1  protein ZGRF1 isoform X7

  3. XM_011532092.3 → XP_011530394.1  protein ZGRF1 isoform X3

    Conserved Domains (5) summary
    COG1112
    Location:1719 → 2037
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam06839
    Location:1327 → 1371
    zf-GRF; GRF zinc finger
    pfam10382
    Location:4 → 53
    DUF2439; Protein of unknown function (DUF2439)
    pfam13086
    Location:1594 → 1824
    AAA_11; AAA domain
    pfam13087
    Location:1835 → 2019
    AAA_12; AAA domain

  4. XM_017008370.2 → XP_016863859.1  protein ZGRF1 isoform X6

  5. XM_011532091.3 → XP_011530393.1  protein ZGRF1 isoform X2

    Conserved Domains (5) summary
    COG1112
    Location:1722 → 2040
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam06839
    Location:1330 → 1374
    zf-GRF; GRF zinc finger
    pfam10382
    Location:4 → 73
    DUF2439; Protein of unknown function (DUF2439)
    pfam13086
    Location:1597 → 1827
    AAA_11; AAA domain
    pfam13087
    Location:1838 → 2022
    AAA_12; AAA domain

  6. XM_011532094.3 → XP_011530396.1  protein ZGRF1 isoform X8

    Conserved Domains (5) summary
    COG1112
    Location:1653 → 1971
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam06839
    Location:1261 → 1305
    zf-GRF; GRF zinc finger
    pfam10382
    Location:4 → 73
    DUF2439; Protein of unknown function (DUF2439)
    pfam13086
    Location:1528 → 1758
    AAA_11; AAA domain
    pfam13087
    Location:1769 → 1953
    AAA_12; AAA domain

  7. XM_047415916.1 → XP_047271872.1  protein ZGRF1 isoform X9

  8. XM_047415910.1 → XP_047271866.1  protein ZGRF1 isoform X4

  9. XM_047415918.1 → XP_047271874.1  protein ZGRF1 isoform X10

  10. XM_047415913.1 → XP_047271869.1  protein ZGRF1 isoform X7

  11. XM_017008369.3 → XP_016863858.1  protein ZGRF1 isoform X3

    Conserved Domains (5) summary
    COG1112
    Location:1719 → 2037
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam06839
    Location:1327 → 1371
    zf-GRF; GRF zinc finger
    pfam10382
    Location:4 → 53
    DUF2439; Protein of unknown function (DUF2439)
    pfam13086
    Location:1594 → 1824
    AAA_11; AAA domain
    pfam13087
    Location:1835 → 2019
    AAA_12; AAA domain

  12. XM_047415912.1 → XP_047271868.1  protein ZGRF1 isoform X6

  13. XM_047415909.1 → XP_047271865.1  protein ZGRF1 isoform X2

  14. XM_047415915.1 → XP_047271871.1  protein ZGRF1 isoform X8

  15. XM_047415911.1 → XP_047271867.1  protein ZGRF1 isoform X5

  16. XM_005263115.5 → XP_005263172.1  protein ZGRF1 isoform X1

    See identical proteins and their annotated locations for XP_005263172.1

    UniProtKB/Swiss-Prot
    B3KQX2, B4DSN6, B4DYU8, E9PDE1, G5EA02, Q6ZU11, Q86YA3, Q9NSW3, Q9NUJ4
    Conserved Domains (5) summary
    COG1112
    Location:1739 → 2057
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam06839
    Location:1347 → 1391
    zf-GRF; GRF zinc finger
    pfam10382
    Location:4 → 73
    DUF2439; Protein of unknown function (DUF2439)
    pfam13086
    Location:1614 → 1844
    AAA_11; AAA domain
    pfam13087
    Location:1855 → 2039
    AAA_12; AAA domain

  17. XM_047415919.1 → XP_047271875.1  protein ZGRF1 isoform X11

  18. XM_011532097.3 → XP_011530399.1  protein ZGRF1 isoform X16

    Conserved Domains (4) summary
    COG1112
    Location:788 → 1106
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam06839
    Location:396 → 440
    zf-GRF; GRF zinc finger
    pfam13086
    Location:663 → 893
    AAA_11; AAA domain
    pfam13087
    Location:904 → 1088
    AAA_12; AAA domain

  19. XM_011532098.3 → XP_011530400.1  protein ZGRF1 isoform X18

    See identical proteins and their annotated locations for XP_011530400.1

    Conserved Domains (4) summary
    COG1112
    Location:696 → 1014
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam06839
    Location:304 → 348
    zf-GRF; GRF zinc finger
    pfam13086
    Location:571 → 801
    AAA_11; AAA domain
    pfam13087
    Location:812 → 996
    AAA_12; AAA domain

  20. XM_011532099.3 → XP_011530401.1  protein ZGRF1 isoform X18

    See identical proteins and their annotated locations for XP_011530401.1

    Conserved Domains (4) summary
    COG1112
    Location:696 → 1014
    DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
    pfam06839
    Location:304 → 348
    zf-GRF; GRF zinc finger
    pfam13086
    Location:571 → 801
    AAA_11; AAA domain
    pfam13087
    Location:812 → 996
    AAA_12; AAA domain

  21. XM_047415921.1 → XP_047271877.1  protein ZGRF1 isoform X13

  22. XM_047415920.1 → XP_047271876.1  protein ZGRF1 isoform X12

  23. XM_011532096.3 → XP_011530398.1  protein ZGRF1 isoform X14

    Conserved Domains (2) summary
    pfam06839
    Location:1347 → 1391
    zf-GRF; GRF zinc finger
    pfam10382
    Location:4 → 73
    DUF2439; Protein of unknown function (DUF2439)

  24. XM_047415922.1 → XP_047271878.1  protein ZGRF1 isoform X15

  25. XM_047415923.1 → XP_047271879.1  protein ZGRF1 isoform X17

    Related
    ENSP00000309095.5, ENST00000309071.9

RNA

  1. XR_938764.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    115847675..115945477 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350420.1 → XP_054206395.1  protein ZGRF1 isoform X5

  2. XM_054350427.1 → XP_054206402.1  protein ZGRF1 isoform X9

  3. XM_054350419.1 → XP_054206394.1  protein ZGRF1 isoform X4

  4. XM_054350429.1 → XP_054206404.1  protein ZGRF1 isoform X10

  5. XM_054350423.1 → XP_054206398.1  protein ZGRF1 isoform X7

  6. XM_054350417.1 → XP_054206392.1  protein ZGRF1 isoform X3

  7. XM_054350422.1 → XP_054206397.1  protein ZGRF1 isoform X6

  8. XM_054350415.1 → XP_054206390.1  protein ZGRF1 isoform X2

  9. XM_054350426.1 → XP_054206401.1  protein ZGRF1 isoform X8

  10. XM_054350414.1 → XP_054206389.1  protein ZGRF1 isoform X1

    UniProtKB/Swiss-Prot
    B3KQX2, B4DSN6, B4DYU8, E9PDE1, G5EA02, Q6ZU11, Q86YA3, Q9NSW3, Q9NUJ4

  11. XM_054350428.1 → XP_054206403.1  protein ZGRF1 isoform X10

  12. XM_054350424.1 → XP_054206399.1  protein ZGRF1 isoform X7

  13. XM_054350418.1 → XP_054206393.1  protein ZGRF1 isoform X3

  14. XM_054350421.1 → XP_054206396.1  protein ZGRF1 isoform X6

  15. XM_054350416.1 → XP_054206391.1  protein ZGRF1 isoform X2

  16. XM_054350425.1 → XP_054206400.1  protein ZGRF1 isoform X8

  17. XM_054350430.1 → XP_054206405.1  protein ZGRF1 isoform X11

  18. XM_054350435.1 → XP_054206410.1  protein ZGRF1 isoform X16

  19. XM_054350437.1 → XP_054206412.1  protein ZGRF1 isoform X18

  20. XM_054350438.1 → XP_054206413.1  protein ZGRF1 isoform X18

  21. XM_054350432.1 → XP_054206407.1  protein ZGRF1 isoform X13

  22. XM_054350431.1 → XP_054206406.1  protein ZGRF1 isoform X12

  23. XM_054350434.1 → XP_054206409.1  protein ZGRF1 isoform X15

  24. XM_054350433.1 → XP_054206408.1  protein ZGRF1 isoform X14

  25. XM_054350436.1 → XP_054206411.1  protein ZGRF1 isoform X17

RNA

  1. XR_008487015.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001099776.1: Suppressed sequence

    Description
    NM_001099776.1: This RefSeq was permanently suppressed because the CDS was partial.

  2. NM_138698.2: Suppressed sequence

    Description
    NM_138698.2: This RefSeq was permanently suppressed because the CDS was partial.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86YA3.3 GenPept UniProtKB/Swiss-Prot:Q86YA3

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