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Protein

Probable ATP-dependent DNA helicase HFM1

Gene

HFM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionHelicase, Hydrolase
Biological processMeiosis
LigandATP-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

EuPathDBiHostDB:ENSG00000162669.15
HGNCiHGNC:20193 HFM1
MIMi615684 gene
neXtProtiNX_A2PYH4

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 dbSNP:rs587777269EnsemblClinVar.1
Natural variantiVAR_071263884I → S in POF9. 1 PublicationCorresponds to variant dbSNP:rs587777268EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

DisGeNETi164045
MalaCardsiHFM1
MIMi615724 phenotype
OpenTargetsiENSG00000162669
Orphaneti619 NON RARE IN EUROPE: 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

EPDiA2PYH4
PaxDbiA2PYH4
PRIDEiA2PYH4
ProteomicsDBi456
457 [A2PYH4-2]

PTM databases

iPTMnetiA2PYH4
PhosphoSitePlusiA2PYH4

Expressioni

Tissue specificityi

Preferentially expressed in testis and ovary.1 Publication

Gene expression databases

BgeeiENSG00000162669 Expressed in 90 organ(s), highest expression level in pituitary gland
CleanExiHS_HFM1
ExpressionAtlasiA2PYH4 baseline and differential
GenevisibleiA2PYH4 HS

Organism-specific databases

HPAiHPA035036
HPA035557

Interactioni

Protein-protein interaction databases

BioGridi127886, 2 interactors
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

Phylogenomic databases

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

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR004179 Sec63-dom
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
PF02889 Sec63, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00973 Sec63, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y3X7H0Y3X7_HUMAN
Probable ATP-dependent DNA helicase...
HFM1
625Annotation score:
C9JQ07C9JQ07_HUMAN
Probable ATP-dependent DNA helicase...
HFM1
196Annotation score:
C9JA44C9JA44_HUMAN
Probable ATP-dependent DNA helicase...
HFM1
151Annotation score:
C9JQP7C9JQP7_HUMAN
Probable ATP-dependent DNA helicase...
HFM1
138Annotation score:

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 → P1 PublicationCorresponds to variant dbSNP:rs11165778Ensembl.1
Natural variantiVAR_039800117I → V1 PublicationCorresponds to variant dbSNP:rs282009Ensembl.1
Natural variantiVAR_071262736G → S in POF9. 1 PublicationCorresponds to variant dbSNP:rs587777269EnsemblClinVar.1
Natural variantiVAR_071263884I → S in POF9. 1 PublicationCorresponds to variant dbSNP:rs587777268EnsemblClinVar.1
Natural variantiVAR_049338939I → V. Corresponds to variant dbSNP:rs11584478Ensembl.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
AC098691 Genomic DNA No translation available.
BX323048 Genomic DNA No translation available.
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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB204867 mRNA Translation: BAF45466.1
AK094079 mRNA Translation: BAC04281.1
AC098691 Genomic DNA No translation available.
BX323048 Genomic DNA No translation available.
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

BioGridi127886, 2 interactors
STRINGi9606.ENSP00000359454

PTM databases

iPTMnetiA2PYH4
PhosphoSitePlusiA2PYH4

Polymorphism and mutation databases

BioMutaiHFM1

Proteomic databases

EPDiA2PYH4
PaxDbiA2PYH4
PRIDEiA2PYH4
ProteomicsDBi456
457 [A2PYH4-2]

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
EuPathDBiHostDB:ENSG00000162669.15
GeneCardsiHFM1
HGNCiHGNC:20193 HFM1
HPAiHPA035036
HPA035557
MalaCardsiHFM1
MIMi615684 gene
615724 phenotype
neXtProtiNX_A2PYH4
OpenTargetsiENSG00000162669
Orphaneti619 NON RARE IN EUROPE: 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
PROiPR:A2PYH4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162669 Expressed in 90 organ(s), highest expression level in pituitary gland
CleanExiHS_HFM1
ExpressionAtlasiA2PYH4 baseline and differential
GenevisibleiA2PYH4 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR004179 Sec63-dom
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
PF02889 Sec63, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00973 Sec63, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHFM1_HUMAN
AccessioniPrimary (citable) accession number: A2PYH4
Secondary accession number(s): B1B0B6, Q8N9Q0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 23, 2008
Last modified: November 7, 2018
This is version 107 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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