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Protein

Probable ATP-dependent DNA helicase HFM1

Gene

HFM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi303 – 310ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

Meiosis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Probable ATP-dependent DNA helicase HFM1 (EC:3.6.4.12)
Alternative name(s):
SEC63 domain-containing protein 1
Gene namesi
Name:HFM1
Synonyms:SEC3D1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:20193. HFM1.

Pathology & Biotechi

Involvement in diseasei

Premature ovarian failure 9 (POF9)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:615724
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071262736G → S in POF9. 1 PublicationCorresponds to variant rs587777269dbSNPEnsembl.1
Natural variantiVAR_071263884I → S in POF9. 1 PublicationCorresponds to variant rs587777268dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

DisGeNETi164045.
MalaCardsiHFM1.
MIMi615724. phenotype.
OpenTargetsiENSG00000162669.
Orphaneti619. Primary ovarian failure.
PharmGKBiPA142671690.

Polymorphism and mutation databases

BioMutaiHFM1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003243931 – 1435Probable ATP-dependent DNA helicase HFM1Add BLAST1435

Proteomic databases

PaxDbiA2PYH4.
PRIDEiA2PYH4.

PTM databases

iPTMnetiA2PYH4.
PhosphoSitePlusiA2PYH4.

Expressioni

Tissue specificityi

Preferentially expressed in testis and ovary.1 Publication

Gene expression databases

BgeeiENSG00000162669.
CleanExiHS_HFM1.
ExpressionAtlasiA2PYH4. baseline and differential.
GenevisibleiA2PYH4. HS.

Organism-specific databases

HPAiHPA035036.
HPA035557.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000359454.

Structurei

3D structure databases

ProteinModelPortaliA2PYH4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini290 – 478Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST189
Domaini519 – 720Helicase C-terminalPROSITE-ProRule annotationAdd BLAST202
Domaini777 – 1092SEC63Add BLAST316

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi411 – 414DEAH box4

Sequence similaritiesi

Belongs to the helicase family. SKI2 subfamily.Curated
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation
Contains 1 SEC63 domain.Curated

Phylogenomic databases

eggNOGiKOG0952. Eukaryota.
COG1204. LUCA.
GeneTreeiENSGT00550000074822.
HOGENOMiHOG000293238.
HOVERGENiHBG103774.
InParanoidiA2PYH4.
KOiK15271.
OMAiMTVEQKQ.
OrthoDBiEOG091G0BYO.
PhylomeDBiA2PYH4.
TreeFamiTF328936.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR004179. Sec63-dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF02889. Sec63. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00973. Sec63. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF52540. SSF52540. 3 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A2PYH4-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MLKSNDCLFS LENLFFEKPD EVENHPDNEK SLDWFLPPAP LISEIPDTQE
60 70 80 90 100
LEEELESHKL LGQEKRPKML TSNLKITNED TNYISLTQKF QFAFPSDKYE
110 120 130 140 150
QDDLNLEGVG NNDLSHIAGK LTYASQKYKN HIGTEIAPEK SVPDDTKLVN
160 170 180 190 200
FAEDKGESTS VFRKRLFKIS DNIHGSAYSN DNELDSHIGS VKIVQTEMNK
210 220 230 240 250
GKSRNYSNSK QKFQYSANVF TANNAFSASE IGEGMFKAPS FSVAFQPHDI
260 270 280 290 300
QEVTENGLGS LKAVTEIPAK FRSIFKEFPY FNYIQSKAFD DLLYTDRNFV
310 320 330 340 350
ICAPTGSGKT VVFELAITRL LMEVPLPWLN IKIVYMAPIK ALCSQRFDDW
360 370 380 390 400
KEKFGPIGLN CKELTGDTVM DDLFEIQHAH IIMTTPEKWD SMTRKWRDNS
410 420 430 440 450
LVQLVRLFLI DEVHIVKDEN RGPTLEVVVS RMKTVQSVSQ TLKNTSTAIP
460 470 480 490 500
MRFVAVSATI PNAEDIAEWL SDGERPAVCL KMDESHRPVK LQKVVLGFPC
510 520 530 540 550
SSNQTEFKFD LTLNYKIASV IQMYSDQKPT LVFCATRKGV QQAASVLVKD
560 570 580 590 600
AKFIMTVEQK QRLQKYAYSV RDSKLRDILK DGAAYHHAGM ELSDRKVVEG
610 620 630 640 650
AFTVGDLPVL FTTSTLAMGV NLPAHLVVIK STMHYAGGLF EEYSETDILQ
660 670 680 690 700
MIGRAGRPQF DTTATAVIMT RLSTRDKYIQ MLACRDTVES SLHRHLIEHL
710 720 730 740 750
NAEIVLHTIT DVNIAVEWIR STLLYIRALK NPSHYGFASG LNKDGIEAKL
760 770 780 790 800
QELCLKNLND LSSLDLIKMD EGVNFKPTEA GRLMAWYYIT FETVKKFYTI
810 820 830 840 850
SGKETLSDLV TLIAGCKEFL DIQLRINEKK TLNTLNKDPN RITIRFPMEG
860 870 880 890 900
RIKTREMKVN CLIQAQLGCI PIQDFALTQD TAKIFRHGSR ITRWLSDFVA
910 920 930 940 950
AQEKKFAVLL NSLILAKCFR CKLWENSLHV SKQLEKIGIT LSNAIVNAGL
960 970 980 990 1000
TSFKKIEETD ARELELILNR HPPFGTQIKE TVMYLPKYEL KVEQITRYSD
1010 1020 1030 1040 1050
TTAEILVTVI LRNFEQLQTK RTASDSHYVT LIIGDADNQV VYLHKITDSV
1060 1070 1080 1090 1100
LLKAGSWAKK IAVKRALKSE DLSINLISSE FVGLDIQQKL TVFYLEPKRF
1110 1120 1130 1140 1150
GNQITMQRKS ETQISHSKHS DISTIAGPNK GTTASKKPGN RECNHLCKSK
1160 1170 1180 1190 1200
HTCGHDCCKI GVAQKSEIKE STISSYLSDL RNRNAVSSVP PVKRLKIQMN
1210 1220 1230 1240 1250
KSQSVDLKEF GFTPKPSLPS ISRSEYLNIS ELPIMEQWDQ PEIYGKVRQE
1260 1270 1280 1290 1300
PSEYQDKEVL NVNFELGNEV WDDFDDENLE VTSFSTDTEK TKISGFGNTL
1310 1320 1330 1340 1350
SSSTRGSKLP LQESKSKFQR EMSNSFVSSH EMSDISLSNS AMPKFSASSM
1360 1370 1380 1390 1400
TKLPQQAGNA VIVHFQERKP QNLSPEIEKQ CFTFSEKNPN SSNYKKVDFF
1410 1420 1430
IRNSECKKEV DFSMYHPDDE ADEMKSLLGI FDGIF
Length:1,435
Mass (Da):162,610
Last modified:September 23, 2008 - v2
Checksum:i9FEFDF74FB990741
GO
Isoform 2 (identifier: A2PYH4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-768: Missing.
     1295-1418: GFGNTLSSST...EVDFSMYHPD → VLFHHMRCRIFLYQILLCPSSVHPP
     1419-1435: Missing.

Show »
Length:551
Mass (Da):62,941
Checksum:iEB4D2B51176782DC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti408F → L in BAF45466 (PubMed:17286053).Curated1
Sequence conflicti684C → Y in BAF45466 (PubMed:17286053).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039799115S → P.1 PublicationCorresponds to variant rs11165778dbSNPEnsembl.1
Natural variantiVAR_039800117I → V.1 PublicationCorresponds to variant rs282009dbSNPEnsembl.1
Natural variantiVAR_071262736G → S in POF9. 1 PublicationCorresponds to variant rs587777269dbSNPEnsembl.1
Natural variantiVAR_071263884I → S in POF9. 1 PublicationCorresponds to variant rs587777268dbSNPEnsembl.1
Natural variantiVAR_049338939I → V.Corresponds to variant rs11584478dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0322491 – 768Missing in isoform 2. 1 PublicationAdd BLAST768
Alternative sequenceiVSP_0322501295 – 1418GFGNT…MYHPD → VLFHHMRCRIFLYQILLCPS SVHPP in isoform 2. 1 PublicationAdd BLAST124
Alternative sequenceiVSP_0322511419 – 1435Missing in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB204867 mRNA. Translation: BAF45466.1.
AK094079 mRNA. Translation: BAC04281.1.
BX323048, AC098691 Genomic DNA. Translation: CAO03501.1.
CCDSiCCDS30769.2. [A2PYH4-1]
RefSeqiNP_001017975.4. NM_001017975.4.
XP_011539151.1. XM_011540849.1. [A2PYH4-1]
XP_011539152.1. XM_011540850.2. [A2PYH4-1]
XP_011539153.1. XM_011540851.1. [A2PYH4-1]
XP_011539154.1. XM_011540852.2. [A2PYH4-1]
UniGeneiHs.454818.

Genome annotation databases

EnsembliENST00000370425; ENSP00000359454; ENSG00000162669. [A2PYH4-1]
GeneIDi164045.
KEGGihsa:164045.
UCSCiuc001doa.4. human. [A2PYH4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB204867 mRNA. Translation: BAF45466.1.
AK094079 mRNA. Translation: BAC04281.1.
BX323048, AC098691 Genomic DNA. Translation: CAO03501.1.
CCDSiCCDS30769.2. [A2PYH4-1]
RefSeqiNP_001017975.4. NM_001017975.4.
XP_011539151.1. XM_011540849.1. [A2PYH4-1]
XP_011539152.1. XM_011540850.2. [A2PYH4-1]
XP_011539153.1. XM_011540851.1. [A2PYH4-1]
XP_011539154.1. XM_011540852.2. [A2PYH4-1]
UniGeneiHs.454818.

3D structure databases

ProteinModelPortaliA2PYH4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000359454.

PTM databases

iPTMnetiA2PYH4.
PhosphoSitePlusiA2PYH4.

Polymorphism and mutation databases

BioMutaiHFM1.

Proteomic databases

PaxDbiA2PYH4.
PRIDEiA2PYH4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370425; ENSP00000359454; ENSG00000162669. [A2PYH4-1]
GeneIDi164045.
KEGGihsa:164045.
UCSCiuc001doa.4. human. [A2PYH4-1]

Organism-specific databases

CTDi164045.
DisGeNETi164045.
GeneCardsiHFM1.
HGNCiHGNC:20193. HFM1.
HPAiHPA035036.
HPA035557.
MalaCardsiHFM1.
MIMi615684. gene.
615724. phenotype.
neXtProtiNX_A2PYH4.
OpenTargetsiENSG00000162669.
Orphaneti619. Primary ovarian failure.
PharmGKBiPA142671690.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0952. Eukaryota.
COG1204. LUCA.
GeneTreeiENSGT00550000074822.
HOGENOMiHOG000293238.
HOVERGENiHBG103774.
InParanoidiA2PYH4.
KOiK15271.
OMAiMTVEQKQ.
OrthoDBiEOG091G0BYO.
PhylomeDBiA2PYH4.
TreeFamiTF328936.

Miscellaneous databases

ChiTaRSiHFM1. human.
GenomeRNAii164045.
PROiA2PYH4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162669.
CleanExiHS_HFM1.
ExpressionAtlasiA2PYH4. baseline and differential.
GenevisibleiA2PYH4. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR004179. Sec63-dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF02889. Sec63. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00973. Sec63. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF52540. SSF52540. 3 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHFM1_HUMAN
AccessioniPrimary (citable) accession number: A2PYH4
Secondary accession number(s): B1B0B6, Q8N9Q0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 23, 2008
Last modified: November 2, 2016
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.