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Aliases for HFM1 Gene

Aliases for HFM1 Gene

  • HFM1, ATP-Dependent DNA Helicase Homolog (S. Cerevisiae) 2 3
  • SEC63 Domain-Containing Protein 1 3 4
  • MER3 3 6
  • POF9 3 6
  • Probable ATP-Dependent DNA Helicase HFM1 3
  • Helicase-Like Protein HFM1 3
  • SEC63 Domain Containing 1 2
  • EC 3.6.4.12 4
  • Helicase 3
  • EC 3.6.1 64
  • Si-11-6 3
  • SEC63D1 3
  • SEC3D1 4
  • Si-11 3

External Ids for HFM1 Gene

Previous Symbols for HFM1 Gene

  • SEC63D1

Summaries for HFM1 Gene

Entrez Gene Summary for HFM1 Gene

  • 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]

GeneCards Summary for HFM1 Gene

HFM1 (HFM1, ATP-Dependent DNA Helicase Homolog (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with HFM1 include premature ovarian failure 9 and spastic hemiplegia. GO annotations related to this gene include nucleic acid binding and ATP-dependent helicase activity.

UniProtKB/Swiss-Prot for HFM1 Gene

  • Required for crossover formation and complete synapsis of homologous chromosomes during meiosis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HFM1 Gene

Genomics for HFM1 Gene

Genomic Location for HFM1 Gene

Start:
91,260,766 bp from pter
End:
91,404,869 bp from pter
Size:
144,104 bases
Orientation:
Minus strand

Genomic View for HFM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HFM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HFM1 Gene

Regulatory Elements for HFM1 Gene

Proteins for HFM1 Gene

  • Protein details for HFM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A2PYH4-HFM1_HUMAN
    Recommended name:
    Probable ATP-dependent DNA helicase HFM1
    Protein Accession:
    A2PYH4
    Secondary Accessions:
    • B1B0B6
    • Q8N9Q0

    Protein attributes for HFM1 Gene

    Size:
    1435 amino acids
    Molecular mass:
    162610 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HFM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HFM1 Gene

Proteomics data for HFM1 Gene at MOPED

Selected DME Specific Peptides for HFM1 Gene

Post-translational modifications for HFM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HFM1 Gene

Domains for HFM1 Gene

Protein Domains for HFM1 Gene

UniProtKB/Swiss-Prot:

HFM1_HUMAN
Domain:
  • Contains 1 helicase ATP-binding domain.:
    • A2PYH4
  • Contains 1 helicase C-terminal domain.:
    • A2PYH4
  • Contains 1 SEC63 domain.:
    • A2PYH4
Family:
  • Belongs to the helicase family. SKI2 subfamily.:
    • A2PYH4
genes like me logo Genes that share domains with HFM1: view

No data available for Gene Families for HFM1 Gene

Function for HFM1 Gene

Molecular function for HFM1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function: Required for crossover formation and complete synapsis of homologous chromosomes during meiosis.

Enzyme Numbers (IUBMB) for HFM1 Gene

Gene Ontology (GO) - Molecular Function for HFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding --
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity --
genes like me logo Genes that share ontologies with HFM1: view

Phenotypes for HFM1 Gene

genes like me logo Genes that share phenotypes with HFM1: view

miRNA for HFM1 Gene

miRTarBase miRNAs that target HFM1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for HFM1 Gene

Localization for HFM1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HFM1 Gene COMPARTMENTS Subcellular localization image for HFM1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for HFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with HFM1: view

Pathways for HFM1 Gene

SuperPathways for HFM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IEA --
genes like me logo Genes that share ontologies with HFM1: view

No data available for Pathways by source for HFM1 Gene

Transcripts for HFM1 Gene

mRNA/cDNA for HFM1 Gene

(16) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HFM1 Gene

HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HFM1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2:

Relevant External Links for HFM1 Gene

GeneLoc Exon Structure for
HFM1
ECgene alternative splicing isoforms for
HFM1

Expression for HFM1 Gene

mRNA expression in normal human tissues for HFM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HFM1 Gene

This gene is overexpressed in Pituitary (12.1) and Testis (6.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HFM1 Gene

SOURCE GeneReport for Unigene cluster for HFM1 Gene Hs.454818

mRNA Expression by UniProt/SwissProt for HFM1 Gene

A2PYH4-HFM1_HUMAN
Tissue specificity: Preferentially expressed in testis and ovary.
genes like me logo Genes that share expressions with HFM1: view

Orthologs for HFM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HFM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HFM1 36
  • 99.54 (n)
  • 99.37 (a)
HFM1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HFM1 36
  • 90.39 (n)
  • 85.75 (a)
HFM1 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HFM1 36
  • 90.72 (n)
  • 86.39 (a)
HFM1 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hfm1 36
  • 83.16 (n)
  • 77.15 (a)
Hfm1 16
Hfm1 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HFM1 37
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 83 (a)
OneToMany
-- 37
  • 69 (a)
OneToMany
-- 37
  • 49 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hfm1 36
  • 81.74 (n)
  • 76.73 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 66 (a)
OneToMany
-- 37
  • 56 (a)
OneToMany
HFM1 36
  • 70.06 (n)
  • 63.7 (a)
lizard
(Anolis carolinensis)
Reptilia HFM1 37
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hfm1 36
  • 64.71 (n)
  • 59.11 (a)
zebrafish
(Danio rerio)
Actinopterygii hfm1 36
  • 62.56 (n)
  • 58.92 (a)
hfm1 37
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009060 36
  • 45 (n)
  • 38.21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HFM1 37
  • 28 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons RCK 36
  • 50.79 (n)
  • 43.03 (a)
rice
(Oryza sativa)
Liliopsida Os02g0617500 36
  • 52.29 (n)
  • 45.77 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 56 (a)
OneToOne
Species with no ortholog for HFM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HFM1 Gene

ENSEMBL:
Gene Tree for HFM1 (if available)
TreeFam:
Gene Tree for HFM1 (if available)

Paralogs for HFM1 Gene

Selected SIMAP similar genes for HFM1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with HFM1: view

No data available for Paralogs for HFM1 Gene

Variants for HFM1 Gene

Sequence variations from dbSNP and Humsavar for HFM1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9868 -- 91,329,847(-) TTTGT(A/C)TCCCC intron-variant
rs166855 -- 91,349,306(-) aattt(C/G)tgggc intron-variant
rs166856 -- 91,390,090(-) ttatt(C/T)actta intron-variant
rs169472 -- 91,332,784(+) aatgg(A/G)caaaa intron-variant
rs169473 -- 91,390,211(-) atctg(C/T)ctgcc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HFM1 Gene

Variant ID Type Subtype PubMed ID
esv2714684 CNV Deletion 23290073
esv5793 CNV Gain 19470904
nsv871685 CNV Loss 21882294
nsv437904 CNV Loss 16468122
nsv519110 CNV Loss 19592680

Relevant External Links for HFM1 Gene

HapMap Linkage Disequilibrium report
HFM1
Human Gene Mutation Database (HGMD)
HFM1

Disorders for HFM1 Gene

(1) OMIM Diseases for HFM1 Gene (615684)

UniProtKB/Swiss-Prot

HFM1_HUMAN
  • Premature ovarian failure 9 (POF9) [MIM:615724]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000303 PubMed:24597873}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for HFM1 Gene

Relevant External Links for HFM1

Genetic Association Database (GAD)
HFM1
Human Genome Epidemiology (HuGE) Navigator
HFM1
genes like me logo Genes that share disorders with HFM1: view

Publications for HFM1 Gene

  1. HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells. (PMID: 17286053) Tanaka K. … Ikeda J.E. (DNA Seq. 2006) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 49
  5. Mutations in HFM1 in recessive primary ovarian insufficiency. (PMID: 24597873) Wang J. … Wu B.L. (N. Engl. J. Med. 2014) 3 4

Products for HFM1 Gene

Sources for HFM1 Gene

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