Q7L7V1 (DHX32_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 87.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 EC=3.6.4.13 Alternative name(s): DEAD/H box 32 DEAD/H helicase-like protein 1 Short name=DHLP1 DEAH box protein 32 HuDDX32 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 743 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Catalytic activity | ATP + H2O = ADP + phosphate. |
| Subcellular location | |
| Tissue specificity | Expressed in lymphoid tissues (at protein level). Expressed in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung, lymphoid tissues and blood leukocytes. Ref.1 Ref.9 |
| Induction | Up-regulated by ionomycin in T-lymphocytes. Down-regulated in acute lymphoblastic leukemia. Ref.1 Ref.8 |
| Sequence similarities | Belongs to the DEAD box helicase family. DEAH subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. |
| Sequence caution | The sequence AAH37925.1 differs from that shown. Reason: Frameshift at position 439. The sequence BAB15029.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Mitochondrion Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Helicase Hydrolase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW helicase activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q7L7V1-1) 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: Q7L7V1-2) The sequence of this isoform differs from the canonical sequence as follows: 284-364: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 743 | 743 | Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 | PRO_0000292663 | |||||
Regions | |||||||||
| Domain | 72 – 238 | 167 | Helicase ATP-binding | ||||||
| Nucleotide binding | 85 – 92 | 8 | ATP By similarity | ||||||
| Motif | 185 – 188 | 4 | DEAH box | ||||||
Natural variations | |||||||||
| Alternative sequence | 284 – 364 | 81 | Missing in isoform 2. | VSP_026427 | |||||
| Natural variant | 209 | 1 | P → R in a breast cancer sample; somatic mutation. Ref.11 | VAR_035843 | |||||
| Natural variant | 271 | 1 | E → D. Corresponds to variant rs11244674 [ dbSNP | Ensembl ]. | VAR_052181 | |||||
| Natural variant | 301 | 1 | D → A. Corresponds to variant rs35772239 [ dbSNP | Ensembl ]. | VAR_052182 | |||||
| Natural variant | 430 | 1 | V → L. Corresponds to variant rs17153669 [ dbSNP | Ensembl ]. | VAR_052183 | |||||
Experimental info | |||||||||
| Sequence conflict | 26 | 1 | D → G in BAA91754. Ref.3 | ||||||
| Sequence conflict | 123 | 1 | V → M in BAA91882. Ref.3 | ||||||
| Sequence conflict | 171 | 1 | M → V in BAA91754. Ref.3 | ||||||
| Sequence conflict | 231 | 1 | N → F in AAL26551. Ref.1 | ||||||
| Sequence conflict | 459 | 1 | L → S in BAA91882. Ref.3 | ||||||
| Sequence conflict | 496 | 1 | A → G in BAA91882. Ref.3 | ||||||
| Sequence conflict | 499 | 1 | E → G in AAH37925. Ref.6 | ||||||
| Sequence conflict | 567 | 1 | V → A in BAB15029. Ref.3 | ||||||
| Sequence conflict | 590 | 1 | E → G in AAH37925. Ref.6 | ||||||
| Sequence conflict | 686 | 1 | P → L in BAA91882. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The novel helicase homologue DDX32 is down-regulated in acute lymphoblastic leukemia." Abdelhaleem M. Leuk. Res. 26:945-954(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 230-414 (ISOFORM 2), INDUCTION, TISSUE SPECIFICITY. Tissue: Myeloid leukemia cell. |
| [2] | "Genomic structure of the human BCCIP gene and its expression in cancer." Meng X., Liu J., Shen Z. Gene 302:139-146(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1). |
| [3] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Colon and Teratocarcinoma. |
| [4] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain, Kidney and Placenta. |
| [7] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 238-743 (ISOFORM 1). Tissue: Testis. |
| [8] | "The activation-induced expression of DHX32 in Jurkat T cells is specific and involves calcium and nuclear factor of activated T cells." Alli Z., Nam E.H., Beimnet K., Abdelhaleem M. Cell. Immunol. 237:141-146(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INDUCTION. |
| [9] | "Expression of DHX32 in lymphoid tissues." Alli Z., Ho M., Abdelhaleem M. Exp. Mol. Pathol. 79:219-223(2005) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [10] | "Nuclear and mitochondrial localization of the putative RNA helicase DHX32." Alli Z., Ackerley C., Chen Y., Al-Saud B., Abdelhaleem M. Exp. Mol. Pathol. 81:245-248(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [11] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-209. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF427340 mRNA. Translation: AAL26550.1. AF427341 mRNA. Translation: AAL26551.1. AY064247 Genomic DNA. Translation: AAL55437.1. AY064250 mRNA. Translation: AAL55441.1. AK001556 mRNA. Translation: BAA91754.1. AK001751 mRNA. Translation: BAA91882.1. AK024869 mRNA. Translation: BAB15029.1. Different initiation. AL360176 Genomic DNA. Translation: CAI12094.1. AL360176 Genomic DNA. Translation: CAI12095.1. AL360176 Genomic DNA. Translation: CAI12096.1. CH471066 Genomic DNA. Translation: EAW49216.1. CH471066 Genomic DNA. Translation: EAW49217.1. BC002473 mRNA. Translation: AAH02473.3. BC037925 mRNA. Translation: AAH37925.1. Frameshift. BC068471 mRNA. Translation: AAH68471.1. AL162051 mRNA. Translation: CAB82394.1. |
| IPI | IPI00334601. IPI00644447. |
| PIR | T47184. |
| RefSeq | NP_060650.2. NM_018180.2. |
| UniGene | Hs.370292. |
3D structure databases | |
| ProteinModelPortal | Q7L7V1. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q7L7V1. 1 interaction. |
PTM databases | |
| PhosphoSite | Q7L7V1. |
Polymorphism databases | |
| DMDM | 74759011. |
Proteomic databases | |
| PaxDb | Q7L7V1. |
| PRIDE | Q7L7V1. |
Protocols and materials databases | |
| DNASU | 55760. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000284688; ENSP00000284688; ENSG00000089876. ENST00000284690; ENSP00000284690; ENSG00000089876. ENST00000368721; ENSP00000357710; ENSG00000089876. ENST00000415732; ENSP00000406781; ENSG00000089876. |
| GeneID | 55760. |
| KEGG | hsa:55760. |
| UCSC | uc001lje.1. human. uc001ljf.1. human. |
Organism-specific databases | |
| CTD | 55760. |
| GeneCards | GC10M127515. |
| HGNC | HGNC:16717. DHX32. |
| HPA | HPA048872. |
| MIM | 607960. gene. |
| neXtProt | NX_Q7L7V1. |
| PharmGKB | PA27219. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1643. |
| HOVERGEN | HBG039428. |
| InParanoid | Q7L7V1. |
| OMA | LACEQDI. |
| OrthoDB | EOG4N30NF. |
| PhylomeDB | Q7L7V1. |
Gene expression databases | |
| Bgee | Q7L7V1. |
| Genevestigator | Q7L7V1. |
Family and domain databases | |
| InterPro | IPR011709. DUF1605. IPR007502. Helicase-assoc_dom. IPR014001. Helicase_ATP-bd. IPR027417. P-loop_NTPase. [Graphical view] |
| Pfam | PF04408. HA2. 1 hit. PF07717. OB_NTP_bind. 1 hit. [Graphical view] |
| SMART | SM00847. HA2. 1 hit. [Graphical view] |
| SUPFAM | SSF52540. SSF52540. 1 hit. |
| PROSITE | PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | DHX32. human. |
| GenomeRNAi | 55760. |
| NextBio | 60779. |
| SOURCE | Search... |
Entry information
| Entry name | DHX32_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7L7V1 Secondary accession number(s): A8MSV2 Q9NVJ7 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
