Reviewed, UniProtKB/Swiss-Prot Q92771 (DDX12_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable ATP-dependent RNA helicase DDX12
    EC=3.6.1.-
Alternative name(s):
    DEAD/H box protein 12
    CHL1-related protein 2
      Short name=hCHLR2

Gene names

Name:	DDX12
Synonyms:	CHLR2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	950 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	DNA helicase involved in cellular proliferation. Probably required for maintaining the chromosome segregation By similarity.
Subcellular location	NucleusBy similarity.
Tissue specificity	Only expressed in proliferating tissues.
Sequence similarities	Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily. Contains 1 helicase ATP-binding domain.

Ontologies

Keywords
Biological process	Cell cycle
Cellular component	Nucleus
Ligand	ATP-binding DNA-binding Nucleotide-binding RNA-binding
Molecular function	Helicase Hydrolase
Gene Ontology (GO)
Biological process	cell cycle Inferred from electronic annotation. Source: UniProtKB-KW nucleobase, nucleoside, nucleotide and nucleic acid metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	nucleus Inferred from electronic annotation. Source: InterPro
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro ATP-dependent DNA helicase activity Inferred from electronic annotation. Source: InterPro DNA binding Inferred from electronic annotation. Source: InterPro RNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 950	950	Probable ATP-dependent RNA helicase DDX12		PRO_0000307815
Regions
	Domain	28 – 464	437	Helicase ATP-binding
	Nucleotide binding	63 – 70	8	ATP By similarity
	Motif	412 – 415	4	DEAH
	Compositional bias	182 – 243	62	Glu-rich
Experimental info
	Sequence conflict	205 – 206	2	RP → WL in AAB06963. Ref.2
	Sequence conflict	250	1	H → Y in AAB06963. Ref.2
	Sequence conflict	282	1	R → Q in AAB06963. Ref.2
	Sequence conflict	302	1	N → D in AAB06963. Ref.2
	Sequence conflict	373	1	G → R in AAB06963. Ref.2
	Sequence conflict	387	1	P → S in AAB06963. Ref.2
	Sequence conflict	421 – 423	3	TTS → ITG in AAB06963. Ref.2
	Sequence conflict	647	1	N → D in AAB06963. Ref.2
	Sequence conflict	684	1	S → I in AAB06963. Ref.2
	Sequence conflict	716	1	G → S in AAB06963. Ref.2
	Sequence conflict	747	1	R → H in AAB06963. Ref.2
	Sequence conflict	775	1	L → I in AAB06963. Ref.2
	Sequence conflict	846	1	H → P in AAB06963. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q92771-1 [UniParc]. Last modified December 4, 2007. Version 3. Checksum: EE9417A878ACAE85	FASTA	950	106,006
	10 20 30 40 50 60 MRSGGGCSGS LSLRGPASFK FSGVCPDSRG LAFSVAILPA KKEDFMAELY RVLEAGKIGI 70 80 90 100 110 120 FESPTGTGKS LSLICGALSW LRDFEQKKRE EEARLLETGT GPLHDEKDES LCLSSSCEGA 130 140 150 160 170 180 AGTPRPAGEP AWVTQFVQKK EERDLVNRLK AEQARRKQRE ERLQQLQHRV QLKYAAKRLR 190 200 210 220 230 240 QEEEERENLL RLSREMLETG PEAERPEQLE SGEEELVLAE YESDEEKKVA SGVDEDEDDL 250 260 270 280 290 300 EEEHITKIYH CSRTHSQLAQ FVHEVKKSPF GKDVRLVSLG SRQNLCVNED VRSLGSVQLI 310 320 330 340 350 360 NNRCVDMQRS RHEKKKGAEE EKPKRRRQEK QAACPFYNHE QMGLLRDEAL AEVKDMEQLL 370 380 390 400 410 420 ALGKEARACP YYGSRLAIPA AQLVVLPYQM LLHAATRQAA GIRLQDQVVI IDEAHNLIDT 430 440 450 460 470 480 TTSMHSVEVS GSQLCQAHSQ LLQYMERYGK RLKAKNLMYL KQILYLLEKF VAVLGGNIKQ 490 500 510 520 530 540 NPNTQSLSQT GMELKTINDF LFQSQIDNIN LFKVQRYCEK SMISRKLFGF TERYGAVFSS 550 560 570 580 590 600 REQPKLAGFQ QFLQSLQPRT TEALAAPADE SQASVPQPAS PLMHIEGFLA ALTTANQDGR 610 620 630 640 650 660 VILSRQGSLS QSTLKFLLLN PAVHFAQVVK ECRAVVIAGG TMQPVSNFRQ QLLACAGVEA 670 680 690 700 710 720 ERVVEFSCGH VIPPDNILPL VICSGVSNQP LEFTFQKRDL PQMMDEVGRI LCNLCGVVSG 730 740 750 760 770 780 GVVCFFPSYE YLRQVHAHWE KGGLLGRLAA RKKIFQEPKS AHQVEQVLLA YSRCLQACGQ 790 800 810 820 830 840 ERGPVTGALL LSVVGGKMSE GINFSDNLGR CVVMVGMPFP NIRSAELQEK MAYLDQTLPR 850 860 870 880 890 900 APGQAHPGKA LVENLCMKAV NQSIGRAIRH QKDFASIVLL DQRYARPPVL AKLPAWIRAR 910 920 930 940 950 VEVKATFGPA IAAVQKVSPT FFFLRASQPR DHISHCLLSA QFHREKSASS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1." Amann J., Kidd V.J., Lahti J.M. J. Biol. Chem. 272:3823-3832(1997) [PubMed: 9013641] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 168-901, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AC092821 Genomic DNA. No translation available. AC141557 Genomic DNA. No translation available. U33834 mRNA. Translation: AAB06963.1.
UniGene	Hs.504688 Hs.705570
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000214826. Homo sapiens. [Contig view]
Organism-specific databases
HGNC	HGNC:2737. DDX12.
MIM	601151. gene.
PharmGKB	PA27203.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q92771.
Gene expression databases
CleanEx	HS_DDX12.
Family and domain databases
InterPro	IPR010614. DEAD_2. IPR002464. DNA/RNA_helicase_DEAH_CS. IPR013020. DNA_helicase_DNA-repair_Rad3. IPR014013. Helic_SF1/SF2_ATP-bd_DinG/Rad3. IPR006554. Helicase-like_DEXD_c2. IPR006555. Helicase_ATP-dep_c2. [Graphical view]
Pfam	PF06733. DEAD_2. 1 hit. [Graphical view]
SMART	SM00488. DEXDc2. 1 hit. SM00491. HELICc2. 1 hit. [Graphical view]
TIGRFAMs	TIGR00604. rad3. 1 hit.
PROSITE	PS00690. DEAH_ATP_HELICASE. False negative. PS51193. HELICASE_ATP_BIND_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

DDX12_HUMAN

Accession

Primary (citable) accession number: Q92771

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	December 4, 2007
Last modified:	November 25, 2008
This is version 50 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)