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    HFM1 helicase for meiosis 1 [ Homo sapiens (human) ]

    Gene ID: 164045, updated on 3-Dec-2024

    Summary

    Official Symbol
    HFM1provided by HGNC
    Official Full Name
    helicase for meiosis 1provided by HGNC
    Primary source
    HGNC:HGNC:20193
    See related
    Ensembl:ENSG00000162669 MIM:615684; AllianceGenome:HGNC:20193
    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
    MER3; POF9; Si-11; SEC63D1; Si-11-6; helicase
    Summary
    The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in testis (RPKM 6.6), ovary (RPKM 1.4) and 3 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See HFM1 in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (91260766..91408007, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (91105413..91252636, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (91726323..91870394, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91390503-91391117 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:91392347-91392959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:91393061-91393667 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:91393668-91394273 Neighboring gene zinc finger protein 644 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:91439231-91440124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91486849-91487398 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91487399-91487948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91487949-91488498 Neighboring gene ribosomal protein L5 pseudogene 6 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:91589111-91589852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:91654217-91654717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:91717359-91717859 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:91718677-91718849 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:91755191-91755405 Neighboring gene flap structure-specific endonuclease 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1066 Neighboring gene uncharacterized LOC124904661 Neighboring gene uncharacterized LOC107985417

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36760, FLJ39011, MGC163397

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables forked DNA-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables four-way junction helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables single-stranded 3'-5' DNA helicase activity 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 chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in resolution of meiotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    probable ATP-dependent DNA helicase HFM1
    Names
    HFM1, ATP dependent DNA helicase homolog
    SEC63 domain-containing protein 1
    helicase-like protein HFM1
    NP_001017975.5
    XP_011539151.1
    XP_011539152.1
    XP_011539153.1
    XP_011539154.1
    XP_011539157.1
    XP_011539159.1
    XP_011539161.1
    XP_016855979.1
    XP_016855980.1
    XP_016855981.1
    XP_016855982.1
    XP_016855983.1
    XP_016855984.1
    XP_016855985.1
    XP_024309476.1
    XP_047303894.1
    XP_047303896.1
    XP_047303911.1
    XP_047303912.1
    XP_054190738.1
    XP_054190739.1
    XP_054190740.1
    XP_054190741.1
    XP_054190742.1
    XP_054190743.1
    XP_054190744.1
    XP_054190745.1
    XP_054190746.1
    XP_054190747.1
    XP_054190748.1
    XP_054190749.1
    XP_054190750.1
    XP_054190751.1
    XP_054190752.1
    XP_054190753.1
    XP_054190754.1
    XP_054190755.1
    XP_054190756.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_034120.2 RefSeqGene

      Range
      8170..152241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017975.6NP_001017975.5  probable ATP-dependent DNA helicase HFM1

      Status: REVIEWED

      Source sequence(s)
      AC098691, BX323048
      Consensus CDS
      CCDS30769.2
      UniProtKB/Swiss-Prot
      A2PYH4, B1B0B6, Q8N9Q0
      Related
      ENSP00000359454.3, ENST00000370425.8
      Conserved Domains (2) summary
      COG1204
      Location:264970
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      cd18023
      Location:280488
      DEXHc_HFM1; DEXH-box helicase domain of ATP-dependent DNA helicase HFM1

    RNA

    1. NR_165455.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC098691, BX323048

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      91260766..91408007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540852.3XP_011539154.1  probable ATP-dependent DNA helicase HFM1 isoform X1

      See identical proteins and their annotated locations for XP_011539154.1

      UniProtKB/Swiss-Prot
      A2PYH4, B1B0B6, Q8N9Q0
      Conserved Domains (2) summary
      COG1204
      Location:264970
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      cd18023
      Location:280488
      DEXHc_HFM1; DEXH-box helicase domain of ATP-dependent DNA helicase HFM1
    2. XM_011540857.2XP_011539159.1  probable ATP-dependent DNA helicase HFM1 isoform X7

      Conserved Domains (3) summary
      cd00079
      Location:373528
      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:143325
      DEAD; DEAD/DEAH box helicase
      pfam02889
      Location:636949
      Sec63; Sec63 Brl domain
    3. XM_017000490.2XP_016855979.1  probable ATP-dependent DNA helicase HFM1 isoform X2

      Conserved Domains (3) summary
      cd00079
      Location:514669
      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:284466
      DEAD; DEAD/DEAH box helicase
      pfam02889
      Location:7521063
      Sec63; Sec63 Brl domain
    4. XM_017000491.2XP_016855980.1  probable ATP-dependent DNA helicase HFM1 isoform X3

      Conserved Domains (3) summary
      cd00079
      Location:514669
      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:284466
      DEAD; DEAD/DEAH box helicase
      pfam02889
      Location:7771046
      Sec63; Sec63 Brl domain
    5. XM_011540851.2XP_011539153.1  probable ATP-dependent DNA helicase HFM1 isoform X1

      See identical proteins and their annotated locations for XP_011539153.1

      UniProtKB/Swiss-Prot
      A2PYH4, B1B0B6, Q8N9Q0
      Conserved Domains (2) summary
      COG1204
      Location:264970
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      cd18023
      Location:280488
      DEXHc_HFM1; DEXH-box helicase domain of ATP-dependent DNA helicase HFM1
    6. XM_011540849.2XP_011539151.1  probable ATP-dependent DNA helicase HFM1 isoform X1

      See identical proteins and their annotated locations for XP_011539151.1

      UniProtKB/Swiss-Prot
      A2PYH4, B1B0B6, Q8N9Q0
      Conserved Domains (2) summary
      COG1204
      Location:264970
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      cd18023
      Location:280488
      DEXHc_HFM1; DEXH-box helicase domain of ATP-dependent DNA helicase HFM1
    7. XM_011540850.3XP_011539152.1  probable ATP-dependent DNA helicase HFM1 isoform X1

      See identical proteins and their annotated locations for XP_011539152.1

      UniProtKB/Swiss-Prot
      A2PYH4, B1B0B6, Q8N9Q0
      Conserved Domains (2) summary
      COG1204
      Location:264970
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      cd18023
      Location:280488
      DEXHc_HFM1; DEXH-box helicase domain of ATP-dependent DNA helicase HFM1
    8. XM_011540855.3XP_011539157.1  probable ATP-dependent DNA helicase HFM1 isoform X4

      Conserved Domains (3) summary
      cd00079
      Location:472627
      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:242424
      DEAD; DEAD/DEAH box helicase
      pfam02889
      Location:7351048
      Sec63; Sec63 Brl domain
    9. XM_017000492.1XP_016855981.1  probable ATP-dependent DNA helicase HFM1 isoform X8

      Conserved Domains (3) summary
      cd00079
      Location:193348
      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:10145
      DEAD; DEAD/DEAH box helicase
      pfam02889
      Location:456769
      Sec63; Sec63 Brl domain
    10. XM_011540859.3XP_011539161.1  probable ATP-dependent DNA helicase HFM1 isoform X9

      Conserved Domains (2) summary
      cd00079
      Location:123278
      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 ...
      pfam02889
      Location:386699
      Sec63; Sec63 Brl domain
    11. XM_017000493.1XP_016855982.1  probable ATP-dependent DNA helicase HFM1 isoform X12

      UniProtKB/TrEMBL
      B7ZM00
      Related
      ENST00000462405.5
    12. XM_047447938.1XP_047303894.1  probable ATP-dependent DNA helicase HFM1 isoform X5

    13. XM_047447940.1XP_047303896.1  probable ATP-dependent DNA helicase HFM1 isoform X6

    14. XM_047447956.1XP_047303912.1  probable ATP-dependent DNA helicase HFM1 isoform X11

      UniProtKB/TrEMBL
      D2KTB5
    15. XM_047447955.1XP_047303911.1  probable ATP-dependent DNA helicase HFM1 isoform X10

      UniProtKB/TrEMBL
      D2KTB5
    16. XM_017000494.2XP_016855983.1  probable ATP-dependent DNA helicase HFM1 isoform X13

      UniProtKB/TrEMBL
      D2KTB5
    17. XM_017000496.2XP_016855985.1  probable ATP-dependent DNA helicase HFM1 isoform X14

      UniProtKB/TrEMBL
      D2KTB5
      Conserved Domains (3) summary
      cd00079
      Location:514669
      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:284466
      DEAD; DEAD/DEAH box helicase
      cl22482
      Location:777810
      Sec63; Sec63 Brl domain
    18. XM_017000495.2XP_016855984.1  probable ATP-dependent DNA helicase HFM1 isoform X14

      UniProtKB/TrEMBL
      D2KTB5
      Conserved Domains (3) summary
      cd00079
      Location:514669
      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:284466
      DEAD; DEAD/DEAH box helicase
      cl22482
      Location:777810
      Sec63; Sec63 Brl domain
    19. XM_024453708.2XP_024309476.1  probable ATP-dependent DNA helicase HFM1 isoform X15

      UniProtKB/TrEMBL
      D2KTB5
      Conserved Domains (1) summary
      cl28231
      Location:264753
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      91105413..91252636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334766.1XP_054190741.1  probable ATP-dependent DNA helicase HFM1 isoform X1

    2. XM_054334772.1XP_054190747.1  probable ATP-dependent DNA helicase HFM1 isoform X7

    3. XM_054334767.1XP_054190742.1  probable ATP-dependent DNA helicase HFM1 isoform X2

    4. XM_054334768.1XP_054190743.1  probable ATP-dependent DNA helicase HFM1 isoform X3

    5. XM_054334765.1XP_054190740.1  probable ATP-dependent DNA helicase HFM1 isoform X1

    6. XM_054334763.1XP_054190738.1  probable ATP-dependent DNA helicase HFM1 isoform X1

    7. XM_054334764.1XP_054190739.1  probable ATP-dependent DNA helicase HFM1 isoform X1

    8. XM_054334769.1XP_054190744.1  probable ATP-dependent DNA helicase HFM1 isoform X4

    9. XM_054334773.1XP_054190748.1  probable ATP-dependent DNA helicase HFM1 isoform X8

      UniProtKB/TrEMBL
      B4DYS5
    10. XM_054334774.1XP_054190749.1  probable ATP-dependent DNA helicase HFM1 isoform X9

    11. XM_054334777.1XP_054190752.1  probable ATP-dependent DNA helicase HFM1 isoform X12

      UniProtKB/TrEMBL
      B7ZM00
    12. XM_054334770.1XP_054190745.1  probable ATP-dependent DNA helicase HFM1 isoform X5

    13. XM_054334771.1XP_054190746.1  probable ATP-dependent DNA helicase HFM1 isoform X6

    14. XM_054334776.1XP_054190751.1  probable ATP-dependent DNA helicase HFM1 isoform X11

      UniProtKB/TrEMBL
      D2KTB5
    15. XM_054334775.1XP_054190750.1  probable ATP-dependent DNA helicase HFM1 isoform X10

      UniProtKB/TrEMBL
      D2KTB5
    16. XM_054334778.1XP_054190753.1  probable ATP-dependent DNA helicase HFM1 isoform X13

      UniProtKB/TrEMBL
      D2KTB5
    17. XM_054334780.1XP_054190755.1  probable ATP-dependent DNA helicase HFM1 isoform X14

      UniProtKB/TrEMBL
      D2KTB5
    18. XM_054334779.1XP_054190754.1  probable ATP-dependent DNA helicase HFM1 isoform X14

      UniProtKB/TrEMBL
      D2KTB5
    19. XM_054334781.1XP_054190756.1  probable ATP-dependent DNA helicase HFM1 isoform X15

      UniProtKB/TrEMBL
      D2KTB5