A2PYH4 · HFM1_HUMAN
- ProteinProbable ATP-dependent DNA helicase HFM1
- GeneHFM1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1435 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Required for crossover formation and complete synapsis of homologous chromosomes during meiosis.
Catalytic activity
- ATP + H2O = ADP + H+ + phosphate
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | nucleus | |
Molecular Function | ATP binding | |
Molecular Function | ATP hydrolysis activity | |
Molecular Function | DNA helicase activity | |
Molecular Function | nucleic acid binding | |
Biological Process | resolution of meiotic recombination intermediates |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameProbable ATP-dependent DNA helicase HFM1
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionA2PYH4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Disease & Variants
Involvement in disease
Premature ovarian failure 9 (POF9)
- Note
- DescriptionAn 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.
- See alsoMIM:615724
Natural variants in POF9
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_071262 | 736 | G>S | in POF9; dbSNP:rs587777269 | |
VAR_071263 | 884 | I>S | in POF9; dbSNP:rs587777268 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_039799 | 115 | in dbSNP:rs11165778 | |||
Sequence: S → P | ||||||
Natural variant | VAR_039800 | 117 | in dbSNP:rs282009 | |||
Sequence: I → V | ||||||
Natural variant | VAR_071262 | 736 | in POF9; dbSNP:rs587777269 | |||
Sequence: G → S | ||||||
Natural variant | VAR_071263 | 884 | in POF9; dbSNP:rs587777268 | |||
Sequence: I → S | ||||||
Natural variant | VAR_049338 | 939 | in dbSNP:rs11584478 | |||
Sequence: I → V |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,621 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000324393 | 1-1435 | Probable ATP-dependent DNA helicase HFM1 | |||
Sequence: MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIKALCSQRFDDWKEKFGPIGLNCKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDNSLVQLVRLFLIDEVHIVKDENRGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSNQTEFKFDLTLNYKIASVIQMYSDQKPTLVFCATRKGVQQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLRDILKDGAAYHHAGMELSDRKVVEGAFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYAGGLFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTRDKYIQMLACRDTVESSLHRHLIEHLNAEIVLHTITDVNIAVEWIRSTLLYIRALKNPSHYGFASGLNKDGIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPDDEADEMKSLLGIFDGIF |
Proteomic databases
PTM databases
Expression
Tissue specificity
Preferentially expressed in testis and ovary.
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for domain, motif, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 290-478 | Helicase ATP-binding | ||||
Sequence: DDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIKALCSQRFDDWKEKFGPIGLNCKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDNSLVQLVRLFLIDEVHIVKDENRGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSATIPNAEDIAEWLSDGERPAV | ||||||
Motif | 411-414 | DEAH box | ||||
Sequence: DEVH | ||||||
Domain | 519-720 | Helicase C-terminal | ||||
Sequence: SVIQMYSDQKPTLVFCATRKGVQQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLRDILKDGAAYHHAGMELSDRKVVEGAFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYAGGLFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTRDKYIQMLACRDTVESSLHRHLIEHLNAEIVLHTITDVNIAVEWIR | ||||||
Domain | 777-1092 | SEC63 | ||||
Sequence: PTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTV | ||||||
Region | 1109-1139 | Disordered | ||||
Sequence: KSETQISHSKHSDISTIAGPNKGTTASKKPG | ||||||
Region | 1295-1315 | Disordered | ||||
Sequence: GFGNTLSSSTRGSKLPLQESK |
Sequence similarities
Belongs to the helicase family. SKI2 subfamily.
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
A2PYH4-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length1,435
- Mass (Da)162,610
- Last updated2008-09-23 v2
- Checksum9FEFDF74FB990741
A2PYH4-2
- Name2
- Differences from canonical
- 1-768: Missing
- 1295-1418: GFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPD → VLFHHMRCRIFLYQILLCPSSVHPP
- 1419-1435: Missing
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_032249 | 1-768 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 408 | in Ref. 1; BAF45466 | ||||
Sequence: F → L | ||||||
Sequence conflict | 684 | in Ref. 1; BAF45466 | ||||
Sequence: C → Y | ||||||
Alternative sequence | VSP_032250 | 1295-1418 | in isoform 2 | |||
Sequence: GFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPD → VLFHHMRCRIFLYQILLCPSSVHPP | ||||||
Alternative sequence | VSP_032251 | 1419-1435 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB204867 EMBL· GenBank· DDBJ | BAF45466.1 EMBL· GenBank· DDBJ | mRNA | ||
AK094079 EMBL· GenBank· DDBJ | BAC04281.1 EMBL· GenBank· DDBJ | mRNA | ||
AC098691 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BX323048 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. |