GenomeNet

Database: UniProt
Entry: A2PYH4
LinkDB: A2PYH4
Original site: A2PYH4 
ID   HFM1_HUMAN              Reviewed;        1435 AA.
AC   A2PYH4; B1B0B6; Q8N9Q0;
DT   18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT   23-SEP-2008, sequence version 2.
DT   16-OCT-2019, entry version 116.
DE   RecName: Full=Probable ATP-dependent DNA helicase HFM1;
DE            EC=3.6.4.12;
DE   AltName: Full=SEC63 domain-containing protein 1;
GN   Name=HFM1; Synonyms=SEC3D1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND
RP   VARIANTS PRO-115 AND VAL-117.
RX   PubMed=17286053; DOI=10.1080/10425170600805433;
RA   Tanaka K., Miyamoto N., Shouguchi-Miyata J., Ikeda J.E.;
RT   "HFM1, the human homologue of yeast Mer3, encodes a putative DNA
RT   helicase expressed specifically in germ-line cells.";
RL   DNA Seq. 17:242-246(2006).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Uterus;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA   Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA   Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA   McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA   Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA   Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA   Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA   Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA   Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA   Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA   Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA   Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA   Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA   Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA   Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA   Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA   Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA   Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA   Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA   Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA   Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA   Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA   Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA   Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA   Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [4]
RP   POSSIBLE INVOLVEMENT IN POF9, AND VARIANTS POF9 SER-736 AND SER-884.
RX   PubMed=24597873; DOI=10.1056/nejmc1310150;
RA   Wang J., Zhang W., Jiang H., Wu B.L., Wu B.L., An Y., Wu B., Yu L.,
RA   Zhou W., Jiang H., Zhang W., Song X., Zhang W., Jiang H., Wu J.,
RA   Pu D., Zhang M., Wu B.L., Shen Y., Wu B.L., Wang J., Zhang W.,
RA   Shen Y., Lin C., Grimmett L., Liao E., Shao H., Shen X., Platt O.;
RT   "Mutations in HFM1 in recessive primary ovarian insufficiency.";
RL   N. Engl. J. Med. 370:972-974(2014).
CC   -!- FUNCTION: Required for crossover formation and complete synapsis
CC       of homologous chromosomes during meiosis.
CC       {ECO:0000250|UniProtKB:D3Z4R1}.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065,
CC         ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616,
CC         ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=A2PYH4-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=A2PYH4-2; Sequence=VSP_032249, VSP_032250, VSP_032251;
CC   -!- TISSUE SPECIFICITY: Preferentially expressed in testis and ovary.
CC       {ECO:0000269|PubMed:17286053}.
CC   -!- DISEASE: Premature ovarian failure 9 (POF9) [MIM:615724]: An
CC       ovarian disorder defined as the cessation of ovarian function
CC       under the age of 40 years. It is characterized by oligomenorrhea
CC       or amenorrhea, in the presence of elevated levels of serum
CC       gonadotropins and low estradiol. {ECO:0000303|PubMed:24597873}.
CC       Note=The disease may be caused by mutations affecting the gene
CC       represented in this entry.
CC   -!- SIMILARITY: Belongs to the helicase family. SKI2 subfamily.
CC       {ECO:0000305}.
DR   EMBL; AB204867; BAF45466.1; -; mRNA.
DR   EMBL; AK094079; BAC04281.1; -; mRNA.
DR   EMBL; AC098691; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BX323048; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS30769.2; -. [A2PYH4-1]
DR   RefSeq; NP_001017975.4; NM_001017975.4.
DR   RefSeq; XP_011539151.1; XM_011540849.1. [A2PYH4-1]
DR   RefSeq; XP_011539152.1; XM_011540850.2. [A2PYH4-1]
DR   RefSeq; XP_011539153.1; XM_011540851.1. [A2PYH4-1]
DR   RefSeq; XP_011539154.1; XM_011540852.2. [A2PYH4-1]
DR   SMR; A2PYH4; -.
DR   BioGrid; 127886; 2.
DR   STRING; 9606.ENSP00000359454; -.
DR   iPTMnet; A2PYH4; -.
DR   PhosphoSitePlus; A2PYH4; -.
DR   BioMuta; HFM1; -.
DR   EPD; A2PYH4; -.
DR   jPOST; A2PYH4; -.
DR   MassIVE; A2PYH4; -.
DR   PaxDb; A2PYH4; -.
DR   PRIDE; A2PYH4; -.
DR   ProteomicsDB; 456; -. [A2PYH4-1]
DR   ProteomicsDB; 457; -. [A2PYH4-2]
DR   Ensembl; ENST00000370425; ENSP00000359454; ENSG00000162669. [A2PYH4-1]
DR   GeneID; 164045; -.
DR   KEGG; hsa:164045; -.
DR   UCSC; uc001doa.4; human. [A2PYH4-1]
DR   CTD; 164045; -.
DR   DisGeNET; 164045; -.
DR   GeneCards; HFM1; -.
DR   HGNC; HGNC:20193; HFM1.
DR   HPA; HPA035036; -.
DR   HPA; HPA035557; -.
DR   MalaCards; HFM1; -.
DR   MIM; 615684; gene.
DR   MIM; 615724; phenotype.
DR   neXtProt; NX_A2PYH4; -.
DR   OpenTargets; ENSG00000162669; -.
DR   Orphanet; 619; NON RARE IN EUROPE: Primary ovarian failure.
DR   PharmGKB; PA142671690; -.
DR   eggNOG; KOG0952; Eukaryota.
DR   eggNOG; COG1204; LUCA.
DR   GeneTree; ENSGT00550000074822; -.
DR   HOGENOM; HOG000293238; -.
DR   InParanoid; A2PYH4; -.
DR   KO; K15271; -.
DR   OMA; ASVIQMY; -.
DR   OrthoDB; 154891at2759; -.
DR   PhylomeDB; A2PYH4; -.
DR   TreeFam; TF328936; -.
DR   ChiTaRS; HFM1; human.
DR   GenomeRNAi; 164045; -.
DR   Pharos; A2PYH4; -.
DR   PRO; PR:A2PYH4; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   Bgee; ENSG00000162669; Expressed in 90 organ(s), highest expression level in pituitary gland.
DR   ExpressionAtlas; A2PYH4; baseline and differential.
DR   Genevisible; A2PYH4; HS.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0003678; F:DNA helicase activity; IEA:UniProtKB-EC.
DR   GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR   GO; GO:0000712; P:resolution of meiotic recombination intermediates; IBA:GO_Central.
DR   InterPro; IPR011545; DEAD/DEAH_box_helicase_dom.
DR   InterPro; IPR014001; Helicase_ATP-bd.
DR   InterPro; IPR001650; Helicase_C.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   InterPro; IPR004179; Sec63-dom.
DR   InterPro; IPR036390; WH_DNA-bd_sf.
DR   Pfam; PF00270; DEAD; 1.
DR   Pfam; PF00271; Helicase_C; 1.
DR   Pfam; PF02889; Sec63; 1.
DR   SMART; SM00487; DEXDc; 1.
DR   SMART; SM00490; HELICc; 1.
DR   SMART; SM00973; Sec63; 1.
DR   SUPFAM; SSF46785; SSF46785; 1.
DR   SUPFAM; SSF52540; SSF52540; 1.
DR   PROSITE; PS51192; HELICASE_ATP_BIND_1; 1.
DR   PROSITE; PS51194; HELICASE_CTER; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; ATP-binding; Complete proteome;
KW   Disease mutation; Helicase; Hydrolase; Meiosis; Nucleotide-binding;
KW   Polymorphism; Premature ovarian failure; Reference proteome.
FT   CHAIN         1   1435       Probable ATP-dependent DNA helicase HFM1.
FT                                /FTId=PRO_0000324393.
FT   DOMAIN      290    478       Helicase ATP-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00541}.
FT   DOMAIN      519    720       Helicase C-terminal.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00542}.
FT   DOMAIN      777   1092       SEC63.
FT   NP_BIND     303    310       ATP. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00541}.
FT   MOTIF       411    414       DEAH box.
FT   VAR_SEQ       1    768       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_032249.
FT   VAR_SEQ    1295   1418       GFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDI
FT                                SLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPE
FT                                IEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHP
FT                                D -> VLFHHMRCRIFLYQILLCPSSVHPP (in
FT                                isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_032250.
FT   VAR_SEQ    1419   1435       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_032251.
FT   VARIANT     115    115       S -> P (in dbSNP:rs11165778).
FT                                {ECO:0000269|PubMed:17286053}.
FT                                /FTId=VAR_039799.
FT   VARIANT     117    117       I -> V (in dbSNP:rs282009).
FT                                {ECO:0000269|PubMed:17286053}.
FT                                /FTId=VAR_039800.
FT   VARIANT     736    736       G -> S (in POF9; dbSNP:rs587777269).
FT                                {ECO:0000269|PubMed:24597873}.
FT                                /FTId=VAR_071262.
FT   VARIANT     884    884       I -> S (in POF9; dbSNP:rs587777268).
FT                                {ECO:0000269|PubMed:24597873}.
FT                                /FTId=VAR_071263.
FT   VARIANT     939    939       I -> V (in dbSNP:rs11584478).
FT                                /FTId=VAR_049338.
FT   CONFLICT    408    408       F -> L (in Ref. 1; BAF45466).
FT                                {ECO:0000305}.
FT   CONFLICT    684    684       C -> Y (in Ref. 1; BAF45466).
FT                                {ECO:0000305}.
SQ   SEQUENCE   1435 AA;  162610 MW;  9FEFDF74FB990741 CRC64;
     MLKSNDCLFS LENLFFEKPD EVENHPDNEK SLDWFLPPAP LISEIPDTQE LEEELESHKL
     LGQEKRPKML TSNLKITNED TNYISLTQKF QFAFPSDKYE QDDLNLEGVG NNDLSHIAGK
     LTYASQKYKN HIGTEIAPEK SVPDDTKLVN FAEDKGESTS VFRKRLFKIS DNIHGSAYSN
     DNELDSHIGS VKIVQTEMNK GKSRNYSNSK QKFQYSANVF TANNAFSASE IGEGMFKAPS
     FSVAFQPHDI QEVTENGLGS LKAVTEIPAK FRSIFKEFPY FNYIQSKAFD DLLYTDRNFV
     ICAPTGSGKT VVFELAITRL LMEVPLPWLN IKIVYMAPIK ALCSQRFDDW KEKFGPIGLN
     CKELTGDTVM DDLFEIQHAH IIMTTPEKWD SMTRKWRDNS LVQLVRLFLI DEVHIVKDEN
     RGPTLEVVVS RMKTVQSVSQ TLKNTSTAIP MRFVAVSATI PNAEDIAEWL SDGERPAVCL
     KMDESHRPVK LQKVVLGFPC SSNQTEFKFD LTLNYKIASV IQMYSDQKPT LVFCATRKGV
     QQAASVLVKD AKFIMTVEQK QRLQKYAYSV RDSKLRDILK DGAAYHHAGM ELSDRKVVEG
     AFTVGDLPVL FTTSTLAMGV NLPAHLVVIK STMHYAGGLF EEYSETDILQ MIGRAGRPQF
     DTTATAVIMT RLSTRDKYIQ MLACRDTVES SLHRHLIEHL NAEIVLHTIT DVNIAVEWIR
     STLLYIRALK NPSHYGFASG LNKDGIEAKL QELCLKNLND LSSLDLIKMD EGVNFKPTEA
     GRLMAWYYIT FETVKKFYTI SGKETLSDLV TLIAGCKEFL DIQLRINEKK TLNTLNKDPN
     RITIRFPMEG RIKTREMKVN CLIQAQLGCI PIQDFALTQD TAKIFRHGSR ITRWLSDFVA
     AQEKKFAVLL NSLILAKCFR CKLWENSLHV SKQLEKIGIT LSNAIVNAGL TSFKKIEETD
     ARELELILNR HPPFGTQIKE TVMYLPKYEL KVEQITRYSD TTAEILVTVI LRNFEQLQTK
     RTASDSHYVT LIIGDADNQV VYLHKITDSV LLKAGSWAKK IAVKRALKSE DLSINLISSE
     FVGLDIQQKL TVFYLEPKRF GNQITMQRKS ETQISHSKHS DISTIAGPNK GTTASKKPGN
     RECNHLCKSK HTCGHDCCKI GVAQKSEIKE STISSYLSDL RNRNAVSSVP PVKRLKIQMN
     KSQSVDLKEF GFTPKPSLPS ISRSEYLNIS ELPIMEQWDQ PEIYGKVRQE PSEYQDKEVL
     NVNFELGNEV WDDFDDENLE VTSFSTDTEK TKISGFGNTL SSSTRGSKLP LQESKSKFQR
     EMSNSFVSSH EMSDISLSNS AMPKFSASSM TKLPQQAGNA VIVHFQERKP QNLSPEIEKQ
     CFTFSEKNPN SSNYKKVDFF IRNSECKKEV DFSMYHPDDE ADEMKSLLGI FDGIF
//
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