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

Gene ID: 164045, updated on 5-Jan-2022

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
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
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Genomic context

See HFM1 in Genome Data Viewer
Location:
1p22.2
Exon count:
44
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (91260766..91408008, complement)
105.20201022 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 zinc finger protein 644 Neighboring gene ribosomal protein L5 pseudogene 6 Neighboring gene flap structure-specific endonuclease 1 pseudogene 1 Neighboring gene uncharacterized LOC107985412 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

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
PubMed 
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
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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

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_034120.1 RefSeqGene

    Range
    5001..149104
    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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    91260766..91408008 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540852.2XP_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
    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_011540857.1XP_011539159.1  probable ATP-dependent DNA helicase HFM1 isoform X5

    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_017000490.1XP_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_017000491.1XP_016855980.1  probable ATP-dependent DNA helicase HFM1 isoform X4

    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_011540851.1XP_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
    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_011540849.1XP_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
    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_011540850.2XP_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
    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_011540855.2XP_011539157.1  probable ATP-dependent DNA helicase HFM1 isoform X3

    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 X6

    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_011540859.2XP_011539161.1  probable ATP-dependent DNA helicase HFM1 isoform X7

    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 X8

    Related
    ENST00000462405.5
  12. XM_017000494.1XP_016855983.1  probable ATP-dependent DNA helicase HFM1 isoform X9

  13. XM_017000496.1XP_016855985.1  probable ATP-dependent DNA helicase HFM1 isoform X10

    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
  14. XM_017000495.1XP_016855984.1  probable ATP-dependent DNA helicase HFM1 isoform X10

    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
  15. XM_024453708.1XP_024309476.1  probable ATP-dependent DNA helicase HFM1 isoform X11

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

RNA

  1. XR_001737010.1 RNA Sequence

  2. XR_001737009.1 RNA Sequence

  3. XR_001737008.1 RNA Sequence

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