Q9NVV9 · THAP1_HUMAN
- ProteinTHAP domain-containing protein 1
- GeneTHAP1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids213 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptotic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTHAP domain-containing protein 1
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NVV9
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Dystonia 6, torsion (DYT6)
- Note
- DescriptionA primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.
- See alsoMIM:602629
Natural variants in DYT6
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066677 | 6 | S>F | in DYT6 | |
VAR_066678 | 6 | S>P | in DYT6; dbSNP:rs1586459410 | |
VAR_067356 | 7 | A>D | in DYT6 | |
VAR_066679 | 8 | Y>C | in DYT6 | |
VAR_066680 | 9 | G>C | in DYT6; dbSNP:rs267607112 | |
VAR_065880 | 12 | N>K | in DYT6 | |
VAR_066681 | 13 | R>H | in DYT6 | |
VAR_066682 | 16 | K>E | in DYT6; lower activity than wild-type | |
VAR_066683 | 17 | D>G | in DYT6; dbSNP:rs766483829 | |
VAR_067357 | 21 | S>C | in DYT6 | |
VAR_065881 | 21 | S>T | in DYT6 | |
VAR_066684 | 23 | H>P | in DYT6; lower activity than wild-type; dbSNP:rs387907177 | |
VAR_066685 | 24 | K>E | in DYT6; lower activity than wild-type; dbSNP:rs387907176 | |
VAR_066686 | 26 | P>L | in DYT6; lower activity than wild-type; dbSNP:rs1802674870 | |
VAR_066687 | 26 | P>R | in DYT6 | |
VAR_065882 | 29 | R>P | in DYT6; dbSNP:rs767952378 | |
VAR_066688 | 29 | R>Q | in DYT6; dbSNP:rs767952378 | |
VAR_066689 | 30 | P>R | in DYT6 | |
VAR_066690 | 32 | L>H | in DYT6; lower activity than wild-type | |
VAR_065883 | 39 | A>T | in DYT6 | |
VAR_066691 | 54 | C>F | in DYT6 | |
VAR_072272 | 56 | E>G | in DYT6 | |
VAR_066692 | 57 | H>N | in DYT6 | |
VAR_065884 | 59 | T>I | in DYT6 | |
VAR_066693 | 69 | missing | in DYT6 | |
VAR_066694 | 72 | L>R | in DYT6 | |
VAR_066695 | 75 | N>I | in DYT6 | |
VAR_066696 | 80 | I>V | in DYT6; mild phenotype; does not affect activity; dbSNP:rs372080941 | |
VAR_054788 | 81 | F>L | in DYT6; affects DNA-binding; dbSNP:rs118204013 | |
VAR_066697 | 83 | C>R | in DYT6; dbSNP:rs768017019 | |
VAR_065885 | 89 | K>R | in DYT6; dbSNP:rs267607111 | |
VAR_066698 | 132 | F>S | in DYT6; dbSNP:rs950435041 | |
VAR_065886 | 136 | N>K | in DYT6 | |
VAR_066699 | 136 | N>S | in DYT6; dbSNP:rs769988455 | |
VAR_066700 | 137 | Y>C | in DYT6; dbSNP:rs1802650621 | |
VAR_066701 | 143 | M>V | in DYT6; no effect on dimerization; dbSNP:rs374512193 | |
VAR_066702 | 149 | I>T | in DYT6; no effect on dimerization | |
VAR_066703 | 150 | H>P | in DYT6; no effect on dimerization | |
VAR_066704 | 166 | A>T | in DYT6; no effect on dimerization; dbSNP:rs138918468 | |
VAR_066705 | 169 | R>Q | in DYT6; no effect on dimerization; dbSNP:rs767519301 | |
VAR_065887 | 170 | C>R | in DYT6; no effect on dimerization | |
VAR_066706 | 174 | E>G | in DYT6; no effect on dimerization; dbSNP:rs759392096 | |
VAR_079366 | 177 | L>P | in DYT6; no effect on dimerization | |
VAR_066707 | 180 | L>S | in DYT6; no effect on dimerization | |
VAR_066708 | 187 | Q>K | in DYT6 | |
VAR_066709 | 192 | D>N | in DYT6; dbSNP:rs377725442 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 4 | Does not affect DNA-binding. | ||||
Sequence: S → A | ||||||
Mutagenesis | 5 | Abolishes DNA- and zinc-binding. | ||||
Sequence: C → A | ||||||
Natural variant | VAR_066677 | 6 | in DYT6 | |||
Sequence: S → F | ||||||
Natural variant | VAR_066678 | 6 | in DYT6; dbSNP:rs1586459410 | |||
Sequence: S → P | ||||||
Mutagenesis | 6 | Does not affect DNA-binding. | ||||
Sequence: S → A | ||||||
Natural variant | VAR_067356 | 7 | in DYT6 | |||
Sequence: A → D | ||||||
Natural variant | VAR_066679 | 8 | in DYT6 | |||
Sequence: Y → C | ||||||
Mutagenesis | 8 | Does not affect DNA-binding. | ||||
Sequence: Y → A | ||||||
Natural variant | VAR_066680 | 9 | in DYT6; dbSNP:rs267607112 | |||
Sequence: G → C | ||||||
Mutagenesis | 10 | Abolishes DNA- and zinc-binding. | ||||
Sequence: C → A | ||||||
Mutagenesis | 11 | Partially affects DNA-binding. | ||||
Sequence: K → A | ||||||
Natural variant | VAR_065880 | 12 | in DYT6 | |||
Sequence: N → K | ||||||
Natural variant | VAR_066681 | 13 | in DYT6 | |||
Sequence: R → H | ||||||
Natural variant | VAR_066682 | 16 | in DYT6; lower activity than wild-type | |||
Sequence: K → E | ||||||
Mutagenesis | 16 | Does not affect DNA-binding. | ||||
Sequence: K → A | ||||||
Natural variant | VAR_066683 | 17 | in DYT6; dbSNP:rs766483829 | |||
Sequence: D → G | ||||||
Natural variant | VAR_067357 | 21 | in DYT6 | |||
Sequence: S → C | ||||||
Natural variant | VAR_065881 | 21 | in DYT6 | |||
Sequence: S → T | ||||||
Natural variant | VAR_066684 | 23 | in DYT6; lower activity than wild-type; dbSNP:rs387907177 | |||
Sequence: H → P | ||||||
Natural variant | VAR_066685 | 24 | in DYT6; lower activity than wild-type; dbSNP:rs387907176 | |||
Sequence: K → E | ||||||
Mutagenesis | 24 | Strongly affects DNA-binding. | ||||
Sequence: K → A | ||||||
Natural variant | VAR_066686 | 26 | in DYT6; lower activity than wild-type; dbSNP:rs1802674870 | |||
Sequence: P → L | ||||||
Natural variant | VAR_066687 | 26 | in DYT6 | |||
Sequence: P → R | ||||||
Mutagenesis | 26 | Abolishes DNA- and zinc-binding. | ||||
Sequence: P → A | ||||||
Mutagenesis | 27 | Partially affects DNA-binding. | ||||
Sequence: L → A | ||||||
Mutagenesis | 28 | Does not affect DNA-binding. | ||||
Sequence: T → A | ||||||
Mutagenesis | 28-30 | Strongly affects DNA-binding. | ||||
Sequence: TRP → AAA | ||||||
Natural variant | VAR_065882 | 29 | in DYT6; dbSNP:rs767952378 | |||
Sequence: R → P | ||||||
Natural variant | VAR_066688 | 29 | in DYT6; dbSNP:rs767952378 | |||
Sequence: R → Q | ||||||
Mutagenesis | 29 | Strongly affects DNA-binding. | ||||
Sequence: R → A | ||||||
Natural variant | VAR_066689 | 30 | in DYT6 | |||
Sequence: P → R | ||||||
Mutagenesis | 30 | Does not affect DNA-binding. | ||||
Sequence: P → A | ||||||
Mutagenesis | 31 | Does not affect DNA-binding. | ||||
Sequence: S → A | ||||||
Natural variant | VAR_066690 | 32 | in DYT6; lower activity than wild-type | |||
Sequence: L → H | ||||||
Mutagenesis | 32 | Does not affect DNA-binding. | ||||
Sequence: L → A | ||||||
Mutagenesis | 33 | Does not affect DNA-binding. | ||||
Sequence: C → A | ||||||
Mutagenesis | 34 | Does not affect DNA-binding. | ||||
Sequence: K → A | ||||||
Mutagenesis | 35 | Does not affect DNA-binding. | ||||
Sequence: E → A | ||||||
Mutagenesis | 36 | Abolishes DNA- and zinc-binding. | ||||
Sequence: W → A | ||||||
Mutagenesis | 37 | Partially affects DNA-binding. | ||||
Sequence: E → A | ||||||
Natural variant | VAR_065883 | 39 | in DYT6 | |||
Sequence: A → T | ||||||
Mutagenesis | 40 | Partially affects DNA-binding. | ||||
Sequence: V → A | ||||||
Mutagenesis | 41 | Does not affect DNA-binding. | ||||
Sequence: R → A | ||||||
Mutagenesis | 41-43 | Strongly affects DNA-binding. | ||||
Sequence: RRK → AAA | ||||||
Mutagenesis | 42 | Strongly affects DNA-binding. | ||||
Sequence: R → A | ||||||
Mutagenesis | 43 | Does not affect DNA-binding. | ||||
Sequence: K → A | ||||||
Mutagenesis | 44 | Does not affect DNA-binding. | ||||
Sequence: N → A | ||||||
Mutagenesis | 45 | Strongly affects DNA-binding. | ||||
Sequence: F → A | ||||||
Mutagenesis | 46 | Does not affect DNA-binding. | ||||
Sequence: K → A | ||||||
Mutagenesis | 47 | Does not affect DNA-binding. | ||||
Sequence: P → A | ||||||
Mutagenesis | 47-49 | Strongly affects DNA-binding. | ||||
Sequence: PTK → AAA | ||||||
Mutagenesis | 48 | Strongly affects DNA-binding. | ||||
Sequence: T → A | ||||||
Mutagenesis | 49 | Does not affect DNA-binding. | ||||
Sequence: K → A | ||||||
Mutagenesis | 50 | Partially affects DNA-binding. | ||||
Sequence: Y → A | ||||||
Mutagenesis | 50-52 | Strongly affects DNA-binding. | ||||
Sequence: YSS → AAA | ||||||
Mutagenesis | 51 | Does not affect DNA-binding. | ||||
Sequence: S → A | ||||||
Mutagenesis | 52 | Does not affect DNA-binding. | ||||
Sequence: S → A | ||||||
Natural variant | VAR_066691 | 54 | in DYT6 | |||
Sequence: C → F | ||||||
Mutagenesis | 54 | Abolishes DNA- and zinc-binding. | ||||
Sequence: C → A | ||||||
Mutagenesis | 55 | Does not affect DNA-binding. | ||||
Sequence: S → A | ||||||
Natural variant | VAR_072272 | 56 | in DYT6 | |||
Sequence: E → G | ||||||
Natural variant | VAR_066692 | 57 | in DYT6 | |||
Sequence: H → N | ||||||
Mutagenesis | 57 | Abolishes DNA- and zinc-binding. | ||||
Sequence: H → A | ||||||
Mutagenesis | 58 | Abolishes DNA- and zinc-binding. | ||||
Sequence: F → A | ||||||
Natural variant | VAR_065884 | 59 | in DYT6 | |||
Sequence: T → I | ||||||
Natural variant | VAR_066693 | 69 | in DYT6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_066694 | 72 | in DYT6 | |||
Sequence: L → R | ||||||
Natural variant | VAR_066695 | 75 | in DYT6 | |||
Sequence: N → I | ||||||
Mutagenesis | 78 | Abolishes DNA- and zinc-binding. | ||||
Sequence: P → A | ||||||
Natural variant | VAR_066696 | 80 | in DYT6; mild phenotype; does not affect activity; dbSNP:rs372080941 | |||
Sequence: I → V | ||||||
Natural variant | VAR_054788 | 81 | in DYT6; affects DNA-binding; dbSNP:rs118204013 | |||
Sequence: F → L | ||||||
Natural variant | VAR_066697 | 83 | in DYT6; dbSNP:rs768017019 | |||
Sequence: C → R | ||||||
Natural variant | VAR_065885 | 89 | in DYT6; dbSNP:rs267607111 | |||
Sequence: K → R | ||||||
Natural variant | VAR_066698 | 132 | in DYT6; dbSNP:rs950435041 | |||
Sequence: F → S | ||||||
Natural variant | VAR_065886 | 136 | in DYT6 | |||
Sequence: N → K | ||||||
Natural variant | VAR_066699 | 136 | in DYT6; dbSNP:rs769988455 | |||
Sequence: N → S | ||||||
Natural variant | VAR_066700 | 137 | in DYT6; dbSNP:rs1802650621 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_066701 | 143 | in DYT6; no effect on dimerization; dbSNP:rs374512193 | |||
Sequence: M → V | ||||||
Natural variant | VAR_066702 | 149 | in DYT6; no effect on dimerization | |||
Sequence: I → T | ||||||
Natural variant | VAR_066703 | 150 | in DYT6; no effect on dimerization | |||
Sequence: H → P | ||||||
Natural variant | VAR_066704 | 166 | in DYT6; no effect on dimerization; dbSNP:rs138918468 | |||
Sequence: A → T | ||||||
Natural variant | VAR_066705 | 169 | in DYT6; no effect on dimerization; dbSNP:rs767519301 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_065887 | 170 | in DYT6; no effect on dimerization | |||
Sequence: C → R | ||||||
Natural variant | VAR_066706 | 174 | in DYT6; no effect on dimerization; dbSNP:rs759392096 | |||
Sequence: E → G | ||||||
Natural variant | VAR_079366 | 177 | in DYT6; no effect on dimerization | |||
Sequence: L → P | ||||||
Natural variant | VAR_066707 | 180 | in DYT6; no effect on dimerization | |||
Sequence: L → S | ||||||
Natural variant | VAR_066708 | 187 | in DYT6 | |||
Sequence: Q → K | ||||||
Natural variant | VAR_066709 | 192 | in DYT6; dbSNP:rs377725442 | |||
Sequence: D → N |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 249 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000068637 | 1-213 | THAP domain-containing protein 1 | |||
Sequence: MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTKYSSICSEHFTPDCFKRECNNKLLKENAVPTIFLCTEPHDKKEDLLEPQEQLPPPPLPPPVSQVDAAIGLLMPPLQTPVNLSVFCDHNYTVEDTMHQRKRIHQLEQQVEKLRKKLKTAQQRCRRQERQLEKLKEVVHFQKEKDDVSERGYVILPNDYFEIVEVPA |
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homodimer (PubMed:28299530).
Interacts with PAWR. Component of a THAP1/THAP3-HCFC1-OGT complex that contains, either THAP1 or THAP3, HCFC1 and OGT. Interacts with OGT. Interacts (via the HBM) with HCFC1 (via the Kelch-repeat domain); the interaction recruits HCFC1 to the RRM1 promoter (PubMed:12717420, PubMed:20144952, PubMed:20200153).
Interacts with PAWR. Component of a THAP1/THAP3-HCFC1-OGT complex that contains, either THAP1 or THAP3, HCFC1 and OGT. Interacts with OGT. Interacts (via the HBM) with HCFC1 (via the Kelch-repeat domain); the interaction recruits HCFC1 to the RRM1 promoter (PubMed:12717420, PubMed:20144952, PubMed:20200153).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for zinc finger, motif, region, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Zinc finger | 1-81 | THAP-type | ||||
Sequence: MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTKYSSICSEHFTPDCFKRECNNKLLKENAVPTIF | ||||||
Motif | 134-137 | HCFC1-binding motif (HBM) | ||||
Sequence: DHNY | ||||||
Region | 139-185 | Involved in homodimer formation | ||||
Sequence: VEDTMHQRKRIHQLEQQVEKLRKKLKTAQQRCRRQERQLEKLKEVVH | ||||||
Coiled coil | 139-190 | |||||
Sequence: VEDTMHQRKRIHQLEQQVEKLRKKLKTAQQRCRRQERQLEKLKEVVHFQKEK |
Sequence similarities
Belongs to the THAP1 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9NVV9-1
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.
- Name1
- Length213
- Mass (Da)24,944
- Last updated2000-10-01 v1
- ChecksumF3769B0F4CC56539
Q9NVV9-2
- Name2
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
E9PIS9 | E9PIS9_HUMAN | THAP1 | 118 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_044665 | 25-53 | in isoform 2 | |||
Sequence: FPLTRPSLCKEWEAAVRRKNFKPTKYSSI → KKIFWSHRNSFPHLLYRLLFPRLMLLLDY | ||||||
Alternative sequence | VSP_044666 | 54-213 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 171 | in Ref. 2; CAG33537 | ||||
Sequence: R → G | ||||||
Sequence conflict | 213 | in Ref. 3; BAD96951 | ||||
Sequence: A → T |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK001339 EMBL· GenBank· DDBJ | BAA91635.1 EMBL· GenBank· DDBJ | mRNA | ||
CR457256 EMBL· GenBank· DDBJ | CAG33537.1 EMBL· GenBank· DDBJ | mRNA | ||
AK223231 EMBL· GenBank· DDBJ | BAD96951.1 EMBL· GenBank· DDBJ | mRNA | ||
AL832077 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
AC087533 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471080 EMBL· GenBank· DDBJ | EAW63205.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471080 EMBL· GenBank· DDBJ | EAW63206.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC021721 EMBL· GenBank· DDBJ | AAH21721.1 EMBL· GenBank· DDBJ | mRNA |