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    Hfm1 HFM1, ATP-dependent DNA helicase homolog [ Mus musculus (house mouse) ]

    Gene ID: 330149, updated on 4-May-2024

    Summary

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    Official Symbol
    Hfm1provided by MGI
    Official Full Name
    HFM1, ATP-dependent DNA helicase homologprovided by MGI
    Primary source
    MGI:MGI:3036246
    See related
    Ensembl:ENSMUSG00000043410 AllianceGenome:MGI:3036246
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mer3; Gm1046; Sec63d1; A330009G12Rik
    Summary
    Predicted to enable DNA helicase activity. Acts upstream of or within resolution of meiotic recombination intermediates. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in primary ovarian insufficiency 9. Orthologous to human HFM1 (helicase for meiosis 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 2.8), CNS E18 (RPKM 1.6) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 E5; 5 51.43 cM
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (106988059..107074427, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (106840193..106926712, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:107187045-107187335 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_13876 Neighboring gene predicted gene, 33327 Neighboring gene STARR-seq mESC enhancer starr_13877 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:107320773-107320956 Neighboring gene STARR-positive B cell enhancer ABC_E4773 Neighboring gene STARR-seq mESC enhancer starr_13878 Neighboring gene olfactory receptor 719, pseudogene Neighboring gene STARR-seq mESC enhancer starr_13879 Neighboring gene STARR-seq mESC enhancer starr_13880 Neighboring gene cell division cycle 7 Neighboring gene STARR-seq mESC enhancer starr_13882 Neighboring gene predicted gene, 33371

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Hfm1 participates in Golgi-associated spindle assembly and division in mouse oocyte meiosis. Wang H, et al. Cell Death Dis, 2020 Jun 30. PMID 32606310, Free PMC Article
    2. Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees. Xie X, et al. Hum Reprod, 2022 Jun 30. PMID 35526155
    3. Shugoshin protects centromere pairing and promotes segregation of nonexchange partner chromosomes in meiosis. Previato de Almeida L, et al. Proc Natl Acad Sci U S A, 2019 May 7. PMID 31019073, Free PMC Article
    4. Mechanism and regulation of rapid telomere prophase movements in mouse meiotic chromosomes. Lee CY, et al. Cell Rep, 2015 Apr 28. PMID 25892231, Free PMC Article
    5. Concerted action of the MutLβ heterodimer and Mer3 helicase regulates the global extent of meiotic gene conversion. Duroc Y, et al. Elife, 2017 Jan 4. PMID 28051769, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees.
      Title: Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees.
    2. Hfm1 participates in Golgi-associated spindle assembly and division in mouse oocyte meiosis.
      Title: Hfm1 participates in Golgi-associated spindle assembly and division in mouse oocyte meiosis.
    3. We propose that initial steps of recombination are sufficient to support homology recognition, pairing, and initial chromosome synapsis and that HFM1 is required to form normal numbers of COs and to complete synapsis.
      Title: Mouse HFM1/Mer3 is required for crossover formation and complete synapsis of homologous chromosomes during meiosis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Endonuclease-mediated (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within oogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in resolution of meiotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within resolution of meiotic recombination intermediates IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable ATP-dependent DNA helicase HFM1
    Names
    SEC63 domain containing 1
    NP_001239445.1
    NP_001399471.1
    NP_001399490.1
    NP_001399491.1
    NP_808541.2
    XP_006535078.1
    XP_006535079.1
    XP_011247789.1
    XP_030110450.1
    XP_030110451.1
    XP_030110453.1
    XP_030110454.1
    XP_030110455.1
    XP_030110456.1
    XP_030110457.1
    XP_030110458.1
    XP_030110459.1
    XP_030110460.1
    XP_036021120.1
    XP_036021121.1

    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_001252516.2 → NP_001239445.1  probable ATP-dependent DNA helicase HFM1 isoform 2

      See identical proteins and their annotated locations for NP_001239445.1

      Status: VALIDATED

      Source sequence(s)
      AC137947
      UniProtKB/TrEMBL
      D3YUB5, Q8CA92
      Conserved Domains (1) summary
      cl21455
      Location:239 → 272
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001412542.1 → NP_001399471.1  probable ATP-dependent DNA helicase HFM1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC137947

    3. NM_001412561.1 → NP_001399490.1  probable ATP-dependent DNA helicase HFM1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC137947

    4. NM_001412562.1 → NP_001399491.1  probable ATP-dependent DNA helicase HFM1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC137947

    5. NM_177873.4 → NP_808541.2  probable ATP-dependent DNA helicase HFM1 isoform 1

      See identical proteins and their annotated locations for NP_808541.2

      Status: VALIDATED

      Source sequence(s)
      AC137947
      Consensus CDS
      CCDS51582.1
      UniProtKB/Swiss-Prot
      D3Z4R1
      Related
      ENSMUSP00000108310.4, ENSMUST00000112690.10
      Conserved Domains (3) summary
      cd00079
      Location:502 → 667
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00270
      Location:283 → 464
      DEAD; DEAD/DEAH box helicase
      pfam02889
      Location:775 → 1088
      Sec63; Sec63 Brl domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      106988059..107074427 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535016.5 → XP_006535079.1  probable ATP-dependent DNA helicase HFM1 isoform X1

      See identical proteins and their annotated locations for XP_006535079.1

      Conserved Domains (1) summary
      COG1204
      Location:263 → 969
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    2. XM_030254591.1 → XP_030110451.1  probable ATP-dependent DNA helicase HFM1 isoform X4

      Conserved Domains (1) summary
      COG1204
      Location:219 → 925
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    3. XM_030254590.1 → XP_030110450.1  probable ATP-dependent DNA helicase HFM1 isoform X2

      Conserved Domains (1) summary
      COG1204
      Location:244 → 950
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    4. XM_030254596.1 → XP_030110456.1  probable ATP-dependent DNA helicase HFM1 isoform X9

      Conserved Domains (1) summary
      COG1204
      Location:9 → 649
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    5. XM_011249487.1 → XP_011247789.1  probable ATP-dependent DNA helicase HFM1 isoform X8

      Conserved Domains (1) summary
      COG1204
      Location:124 → 830
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    6. XM_030254593.1 → XP_030110453.1  probable ATP-dependent DNA helicase HFM1 isoform X5

      Conserved Domains (1) summary
      COG1204
      Location:206 → 912
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    7. XM_036165228.1 → XP_036021121.1  probable ATP-dependent DNA helicase HFM1 isoform X10

      Conserved Domains (2) summary
      COG1204
      Location:18 → 539
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      pfam02889
      Location:345 → 658
      Sec63; Sec63 Brl domain

    8. XM_030254598.1 → XP_030110458.1  probable ATP-dependent DNA helicase HFM1 isoform X10

      Conserved Domains (2) summary
      COG1204
      Location:18 → 539
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      pfam02889
      Location:345 → 658
      Sec63; Sec63 Brl domain

    9. XM_030254600.1 → XP_030110460.1  probable ATP-dependent DNA helicase HFM1 isoform X10

      Conserved Domains (2) summary
      COG1204
      Location:18 → 539
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      pfam02889
      Location:345 → 658
      Sec63; Sec63 Brl domain

    10. XM_036165227.1 → XP_036021120.1  probable ATP-dependent DNA helicase HFM1 isoform X10

      Conserved Domains (2) summary
      COG1204
      Location:18 → 539
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      pfam02889
      Location:345 → 658
      Sec63; Sec63 Brl domain

    11. XM_030254595.1 → XP_030110455.1  probable ATP-dependent DNA helicase HFM1 isoform X7

      Conserved Domains (1) summary
      COG1204
      Location:173 → 879
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    12. XM_030254597.1 → XP_030110457.1  probable ATP-dependent DNA helicase HFM1 isoform X10

      Conserved Domains (2) summary
      COG1204
      Location:18 → 539
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      pfam02889
      Location:345 → 658
      Sec63; Sec63 Brl domain

    13. XM_030254594.1 → XP_030110454.1  probable ATP-dependent DNA helicase HFM1 isoform X6

      Conserved Domains (1) summary
      COG1204
      Location:198 → 904
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    14. XM_006535015.1 → XP_006535078.1  probable ATP-dependent DNA helicase HFM1 isoform X1

      See identical proteins and their annotated locations for XP_006535078.1

      Conserved Domains (1) summary
      COG1204
      Location:263 → 969
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    15. XM_030254599.1 → XP_030110459.1  probable ATP-dependent DNA helicase HFM1 isoform X10

      Conserved Domains (2) summary
      COG1204
      Location:18 → 539
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      pfam02889
      Location:345 → 658
      Sec63; Sec63 Brl domain

    RNA

    1. XR_001784709.1 RNA Sequence

    2. XR_001784708.1 RNA Sequence

    3. XR_003955664.2 RNA Sequence

    4. XR_003955663.1 RNA Sequence

    5. XR_003955665.1 RNA Sequence

    6. XR_003955666.1 RNA Sequence

    7. XR_003955667.1 RNA Sequence

    8. XR_001784710.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D3Z4R1.2 GenPept UniProtKB/Swiss-Prot:D3Z4R1

    Gene LinkOut

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