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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
    mouse all
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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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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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