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

Gene ID: 164045, updated on 2-Nov-2024

Summary

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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
mouse all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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. Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia. Saebnia N, et al. J Assist Reprod Genet, 2022 May. PMID 35486194, Free PMC Article
  2. Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia. Tang D, et al. Reprod Biol Endocrinol, 2021 Aug 24. PMID 34429122, Free PMC Article
  3. Mutations in HFM1 in recessive primary ovarian insufficiency. Wang J, et al. N Engl J Med, 2014 Mar 6. PMID 24597873
  4. A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency. Zhe J, et al. J Ovarian Res, 2019 Jul 6. PMID 31279343, Free PMC Article
  5. Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women. Pu D, et al. Clin Genet, 2016 May. PMID 26679638

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel pathogenic splicing variants in helicase for meiosis 1 (HFM1) are associated with diminished ovarian reserve and poor pregnancy outcomes.
    Title: Novel pathogenic splicing variants in helicase for meiosis 1 (HFM1) are associated with diminished ovarian reserve and poor pregnancy outcomes.
  2. 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.
  3. Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.
    Title: Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.
  4. Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.
    Title: Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.
  5. A novel heterozygous missense mutation in HFM1 (c.3470G > A) associated with premature ovarian insufficiency (POI) is in the affected family members and absent in the unaffected family members in China. Results of the minigene assay reveals that the mutation changes the mRNA splicing repertory.
    Title: A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.
  6. Data suggest that HFM1 gene might be associated with primary ovarian insufficiency in Chinese population.
    Title: Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.
  7. Exome sequencing of two Chinese sisters with primary ovarian insufficiency and their parents identified a shared compound heterozygous mutation in a meiotic gene, HFM1, which encodes a protein necessary for homologous recombination of chromosomes.
    Title: Mutations in HFM1 in recessive primary ovarian insufficiency.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. hHFM1 is the evolutionally conserved putative human DNA helicase, which may function as a modulator for genome integrity in germ-line tissues.
    Title: HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells.
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

Associated conditions

Description Tests
Premature ovarian failure 9
MedGen: C3810376 OMIM: 615724 GeneReviews: Not available
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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

  • 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 DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleic acid 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 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

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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)

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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_034120.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001017975.6 → NP_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:264 → 970
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    cd18023
    Location:280 → 488
    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_011540852.3 → XP_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:264 → 970
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    cd18023
    Location:280 → 488
    DEXHc_HFM1; DEXH-box helicase domain of ATP-dependent DNA helicase HFM1

  2. XM_011540857.2 → XP_011539159.1  probable ATP-dependent DNA helicase HFM1 isoform X7

    Conserved Domains (3) summary
    cd00079
    Location:373 → 528
    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:143 → 325
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:636 → 949
    Sec63; Sec63 Brl domain

  3. XM_017000490.2 → XP_016855979.1  probable ATP-dependent DNA helicase HFM1 isoform X2

    Conserved Domains (3) summary
    cd00079
    Location:514 → 669
    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:284 → 466
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:752 → 1063
    Sec63; Sec63 Brl domain

  4. XM_017000491.2 → XP_016855980.1  probable ATP-dependent DNA helicase HFM1 isoform X3

    Conserved Domains (3) summary
    cd00079
    Location:514 → 669
    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:284 → 466
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:777 → 1046
    Sec63; Sec63 Brl domain

  5. XM_011540851.2 → XP_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:264 → 970
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    cd18023
    Location:280 → 488
    DEXHc_HFM1; DEXH-box helicase domain of ATP-dependent DNA helicase HFM1

  6. XM_011540849.2 → XP_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:264 → 970
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    cd18023
    Location:280 → 488
    DEXHc_HFM1; DEXH-box helicase domain of ATP-dependent DNA helicase HFM1

  7. XM_011540850.3 → XP_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:264 → 970
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    cd18023
    Location:280 → 488
    DEXHc_HFM1; DEXH-box helicase domain of ATP-dependent DNA helicase HFM1

  8. XM_011540855.3 → XP_011539157.1  probable ATP-dependent DNA helicase HFM1 isoform X4

    Conserved Domains (3) summary
    cd00079
    Location:472 → 627
    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:242 → 424
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:735 → 1048
    Sec63; Sec63 Brl domain

  9. XM_017000492.1 → XP_016855981.1  probable ATP-dependent DNA helicase HFM1 isoform X8

    Conserved Domains (3) summary
    cd00079
    Location:193 → 348
    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:10 → 145
    DEAD; DEAD/DEAH box helicase
    pfam02889
    Location:456 → 769
    Sec63; Sec63 Brl domain

  10. XM_011540859.3 → XP_011539161.1  probable ATP-dependent DNA helicase HFM1 isoform X9

    Conserved Domains (2) summary
    cd00079
    Location:123 → 278
    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:386 → 699
    Sec63; Sec63 Brl domain

  11. XM_017000493.1 → XP_016855982.1  probable ATP-dependent DNA helicase HFM1 isoform X12

    UniProtKB/TrEMBL
    B7ZM00
    Related
    ENST00000462405.5

  12. XM_047447938.1 → XP_047303894.1  probable ATP-dependent DNA helicase HFM1 isoform X5

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

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

  15. XM_047447955.1 → XP_047303911.1  probable ATP-dependent DNA helicase HFM1 isoform X10

  16. XM_017000494.2 → XP_016855983.1  probable ATP-dependent DNA helicase HFM1 isoform X13

    UniProtKB/TrEMBL
    D2KTB5

  17. XM_017000496.2 → XP_016855985.1  probable ATP-dependent DNA helicase HFM1 isoform X14

    UniProtKB/TrEMBL
    D2KTB5
    Conserved Domains (3) summary
    cd00079
    Location:514 → 669
    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:284 → 466
    DEAD; DEAD/DEAH box helicase
    cl22482
    Location:777 → 810
    Sec63; Sec63 Brl domain

  18. XM_017000495.2 → XP_016855984.1  probable ATP-dependent DNA helicase HFM1 isoform X14

    UniProtKB/TrEMBL
    D2KTB5
    Conserved Domains (3) summary
    cd00079
    Location:514 → 669
    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:284 → 466
    DEAD; DEAD/DEAH box helicase
    cl22482
    Location:777 → 810
    Sec63; Sec63 Brl domain

  19. XM_024453708.2 → XP_024309476.1  probable ATP-dependent DNA helicase HFM1 isoform X15

    UniProtKB/TrEMBL
    D2KTB5
    Conserved Domains (1) summary
    cl28231
    Location:264 → 753
    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_054334766.1 → XP_054190741.1  probable ATP-dependent DNA helicase HFM1 isoform X1

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

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

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

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

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

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

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

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

    UniProtKB/TrEMBL
    B4DYS5

  10. XM_054334774.1 → XP_054190749.1  probable ATP-dependent DNA helicase HFM1 isoform X9

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

  12. XM_054334770.1 → XP_054190745.1  probable ATP-dependent DNA helicase HFM1 isoform X5

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

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

  15. XM_054334775.1 → XP_054190750.1  probable ATP-dependent DNA helicase HFM1 isoform X10

  16. XM_054334778.1 → XP_054190753.1  probable ATP-dependent DNA helicase HFM1 isoform X13

  17. XM_054334780.1 → XP_054190755.1  probable ATP-dependent DNA helicase HFM1 isoform X14

  18. XM_054334779.1 → XP_054190754.1  probable ATP-dependent DNA helicase HFM1 isoform X14

  19. XM_054334781.1 → XP_054190756.1  probable ATP-dependent DNA helicase HFM1 isoform X15

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2PYH4.2 GenPept UniProtKB/Swiss-Prot:A2PYH4

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