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A2PYH4 (HFM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable ATP-dependent DNA helicase HFM1

EC=3.6.4.12
Alternative name(s):
SEC63 domain-containing protein 1
Gene names
Name:HFM1
Synonyms:SEC3D1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1435 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Catalytic activity

ATP + H2O = ADP + phosphate.

Sequence similarities

Belongs to the helicase family. SKI2 subfamily.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

Contains 1 SEC63 domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: 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.
Isoform 2 (identifier: A2PYH4-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14351435Probable ATP-dependent DNA helicase HFM1
PRO_0000324393

Regions

Domain290 – 478189Helicase ATP-binding
Domain519 – 720202Helicase C-terminal
Domain777 – 1092316SEC63
Nucleotide binding303 – 3108ATP By similarity
Motif411 – 4144DEAH box

Natural variations

Alternative sequence1 – 768768Missing in isoform 2.
VSP_032249
Alternative sequence1295 – 1418124GFGNT…MYHPD → VLFHHMRCRIFLYQILLCPS SVHPP in isoform 2.
VSP_032250
Alternative sequence1419 – 143517Missing in isoform 2.
VSP_032251
Natural variant1151S → P. Ref.1
Corresponds to variant rs11165778 [ dbSNP | Ensembl ].
VAR_039799
Natural variant1171I → V. Ref.1
Corresponds to variant rs282009 [ dbSNP | Ensembl ].
VAR_039800
Natural variant9391I → V.
Corresponds to variant rs11584478 [ dbSNP | Ensembl ].
VAR_049338

Experimental info

Sequence conflict4081F → L in BAF45466. Ref.1
Sequence conflict6841C → Y in BAF45466. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 23, 2008. Version 2.
Checksum: 9FEFDF74FB990741

FASTA1,435162,610
        10         20         30         40         50         60 
MLKSNDCLFS LENLFFEKPD EVENHPDNEK SLDWFLPPAP LISEIPDTQE LEEELESHKL 

        70         80         90        100        110        120 
LGQEKRPKML TSNLKITNED TNYISLTQKF QFAFPSDKYE QDDLNLEGVG NNDLSHIAGK 

       130        140        150        160        170        180 
LTYASQKYKN HIGTEIAPEK SVPDDTKLVN FAEDKGESTS VFRKRLFKIS DNIHGSAYSN 

       190        200        210        220        230        240 
DNELDSHIGS VKIVQTEMNK GKSRNYSNSK QKFQYSANVF TANNAFSASE IGEGMFKAPS 

       250        260        270        280        290        300 
FSVAFQPHDI QEVTENGLGS LKAVTEIPAK FRSIFKEFPY FNYIQSKAFD DLLYTDRNFV 

       310        320        330        340        350        360 
ICAPTGSGKT VVFELAITRL LMEVPLPWLN IKIVYMAPIK ALCSQRFDDW KEKFGPIGLN 

       370        380        390        400        410        420 
CKELTGDTVM DDLFEIQHAH IIMTTPEKWD SMTRKWRDNS LVQLVRLFLI DEVHIVKDEN 

       430        440        450        460        470        480 
RGPTLEVVVS RMKTVQSVSQ TLKNTSTAIP MRFVAVSATI PNAEDIAEWL SDGERPAVCL 

       490        500        510        520        530        540 
KMDESHRPVK LQKVVLGFPC SSNQTEFKFD LTLNYKIASV IQMYSDQKPT LVFCATRKGV 

       550        560        570        580        590        600 
QQAASVLVKD AKFIMTVEQK QRLQKYAYSV RDSKLRDILK DGAAYHHAGM ELSDRKVVEG 

       610        620        630        640        650        660 
AFTVGDLPVL FTTSTLAMGV NLPAHLVVIK STMHYAGGLF EEYSETDILQ MIGRAGRPQF 

       670        680        690        700        710        720 
DTTATAVIMT RLSTRDKYIQ MLACRDTVES SLHRHLIEHL NAEIVLHTIT DVNIAVEWIR 

       730        740        750        760        770        780 
STLLYIRALK NPSHYGFASG LNKDGIEAKL QELCLKNLND LSSLDLIKMD EGVNFKPTEA 

       790        800        810        820        830        840 
GRLMAWYYIT FETVKKFYTI SGKETLSDLV TLIAGCKEFL DIQLRINEKK TLNTLNKDPN 

       850        860        870        880        890        900 
RITIRFPMEG RIKTREMKVN CLIQAQLGCI PIQDFALTQD TAKIFRHGSR ITRWLSDFVA 

       910        920        930        940        950        960 
AQEKKFAVLL NSLILAKCFR CKLWENSLHV SKQLEKIGIT LSNAIVNAGL TSFKKIEETD 

       970        980        990       1000       1010       1020 
ARELELILNR HPPFGTQIKE TVMYLPKYEL KVEQITRYSD TTAEILVTVI LRNFEQLQTK 

      1030       1040       1050       1060       1070       1080 
RTASDSHYVT LIIGDADNQV VYLHKITDSV LLKAGSWAKK IAVKRALKSE DLSINLISSE 

      1090       1100       1110       1120       1130       1140 
FVGLDIQQKL TVFYLEPKRF GNQITMQRKS ETQISHSKHS DISTIAGPNK GTTASKKPGN 

      1150       1160       1170       1180       1190       1200 
RECNHLCKSK HTCGHDCCKI GVAQKSEIKE STISSYLSDL RNRNAVSSVP PVKRLKIQMN 

      1210       1220       1230       1240       1250       1260 
KSQSVDLKEF GFTPKPSLPS ISRSEYLNIS ELPIMEQWDQ PEIYGKVRQE PSEYQDKEVL 

      1270       1280       1290       1300       1310       1320 
NVNFELGNEV WDDFDDENLE VTSFSTDTEK TKISGFGNTL SSSTRGSKLP LQESKSKFQR 

      1330       1340       1350       1360       1370       1380 
EMSNSFVSSH EMSDISLSNS AMPKFSASSM TKLPQQAGNA VIVHFQERKP QNLSPEIEKQ 

      1390       1400       1410       1420       1430 
CFTFSEKNPN SSNYKKVDFF IRNSECKKEV DFSMYHPDDE ADEMKSLLGI FDGIF 

« Hide

Isoform 2 [UniParc].

Checksum: EB4D2B51176782DC
Show »

FASTA55162,941

References

« Hide 'large scale' references
[1]"HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells."
Tanaka K., Miyamoto N., Shouguchi-Miyata J., Ikeda J.E.
DNA Seq. 17:242-246(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS PRO-115 AND VAL-117.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Uterus.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB204867 mRNA. Translation: BAF45466.1.
AK094079 mRNA. Translation: BAC04281.1.
BX323048, AC098691 Genomic DNA. Translation: CAO03501.1.
RefSeqNP_001017975.3. NM_001017975.3.
UniGeneHs.454818.

3D structure databases

ProteinModelPortalA2PYH4.
SMRA2PYH4. Positions 259-1088.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000359454.

PTM databases

PhosphoSiteA2PYH4.

Proteomic databases

PaxDbA2PYH4.
PRIDEA2PYH4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000294696; ENSP00000294696; ENSG00000162669. [A2PYH4-2]
ENST00000370425; ENSP00000359454; ENSG00000162669. [A2PYH4-1]
GeneID164045.
KEGGhsa:164045.
UCSCuc001doa.4. human. [A2PYH4-1]

Organism-specific databases

CTD164045.
GeneCardsGC01M091726.
HGNCHGNC:20193. HFM1.
HPAHPA035557.
neXtProtNX_A2PYH4.
PharmGKBPA142671690.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1204.
HOGENOMHOG000293238.
HOVERGENHBG103774.
InParanoidA2PYH4.
KOK15271.
OMAFKISDNI.
OrthoDBEOG7327MX.
PhylomeDBA2PYH4.
TreeFamTF328936.

Gene expression databases

ArrayExpressA2PYH4.
BgeeA2PYH4.
CleanExHS_HFM1.
GenevestigatorA2PYH4.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR004179. Sec63-dom.
[Graphical view]
PfamPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF02889. Sec63. 1 hit.
[Graphical view]
SMARTSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00973. Sec63. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 3 hits.
PROSITEPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHFM1. human.
GenomeRNAi164045.
NextBio88429.
PROA2PYH4.

Entry information

Entry nameHFM1_HUMAN
AccessionPrimary (citable) accession number: A2PYH4
Secondary accession number(s): B1B0B6, Q8N9Q0
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 23, 2008
Last modified: April 16, 2014
This is version 68 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM