Q8WXR4 (MYO3B_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 105.
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: Myosin-IIIb EC=2.7.11.1 | ||
| Gene names |
| ||
| 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 | 1341 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Probable actin-based motor with a protein kinase activity. |
| Catalytic activity | ATP + a protein = ADP + a phosphoprotein. |
| Subcellular location | |
| Tissue specificity | Expressed in retina, kidney and testis. |
| Sequence similarities | In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. Contains 2 IQ domains. Contains 1 myosin head-like domain. Contains 1 protein kinase domain. |
Ontologies
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8WXR4-1) Also known as: MYO3B.2; 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: Q8WXR4-2) Also known as: MYO3B.0; The sequence of this isoform differs from the canonical sequence as follows: 1245-1341: GSENGLAQKH...SSKGDSFAQH → AFPHYGCNFYGFRKWSCTEASNTSPTMSAAQNAE | ||||||
| Isoform 3 (identifier: Q8WXR4-3) Also known as: MYO3B.1; The sequence of this isoform differs from the canonical sequence as follows: 1097-1123: Missing. 1245-1341: GSENGLAQKH...SSKGDSFAQH → AFPHYGCNFYGFRKWSCTEASNTSPTMSAAQNAE | ||||||
| Isoform 4 (identifier: Q8WXR4-4) Also known as: MYO3B.3; The sequence of this isoform differs from the canonical sequence as follows: 1097-1123: Missing. | ||||||
| Isoform 5 (identifier: Q8WXR4-5) Also known as: MYO3B.4; The sequence of this isoform differs from the canonical sequence as follows: 1193-1341: HSQAQSSPKG...SSKGDSFAQH → WSFTLLLRLE...YAILLQISKD | ||||||
| Isoform 6 (identifier: Q8WXR4-6) Also known as: MYO3B.5; The sequence of this isoform differs from the canonical sequence as follows: 1193-1341: Missing. | ||||||
| Isoform 7 (identifier: Q8WXR4-7) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MLQSALLSTR | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1341 | 1341 | Myosin-IIIb | PRO_0000086415 | |||||
Regions | |||||||||
| Domain | 27 – 293 | 267 | Protein kinase | ||||||
| Domain | 337 – 1059 | 723 | Myosin head-like | ||||||
| Domain | 1060 – 1089 | 30 | IQ 1 | ||||||
| Domain | 1087 – 1116 | 30 | IQ 2 | ||||||
| Nucleotide binding | 33 – 41 | 9 | ATP By similarity | ||||||
Sites | |||||||||
| Active site | 156 | 1 | Proton acceptor By similarity | ||||||
| Binding site | 56 | 1 | ATP By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 | 1 | M → MLQSALLSTR in isoform 7. | VSP_023111 | |||||
| Alternative sequence | 1097 – 1123 | 27 | Missing in isoform 3 and isoform 4. | VSP_010162 | |||||
| Alternative sequence | 1193 – 1341 | 149 | HSQAQ…SFAQH → WSFTLLLRLECNSMISADCN LRPLGSSDSPASASRVAGIT GIHKPRVLQKGAISSQDMQT STRFLGLICCLLGYAILLQI SKD in isoform 5. | VSP_010164 | |||||
| Alternative sequence | 1193 – 1341 | 149 | Missing in isoform 6. | VSP_010165 | |||||
| Alternative sequence | 1245 – 1341 | 97 | GSENG…SFAQH → AFPHYGCNFYGFRKWSCTEA SNTSPTMSAAQNAE in isoform 2 and isoform 3. | VSP_010163 | |||||
| Natural variant | 21 | 1 | P → S. Ref.4 Corresponds to variant rs35391761 [ dbSNP | Ensembl ]. | VAR_040886 | |||||
| Natural variant | 185 | 1 | R → H. Ref.4 Corresponds to variant rs55911154 [ dbSNP | Ensembl ]. | VAR_040887 | |||||
| Natural variant | 267 | 1 | N → S. Ref.4 Corresponds to variant rs34509373 [ dbSNP | Ensembl ]. | VAR_040888 | |||||
| Natural variant | 275 | 1 | I → V. Ref.4 Corresponds to variant rs10209102 [ dbSNP | Ensembl ]. | VAR_030605 | |||||
| Natural variant | 309 | 1 | K → E. Ref.3 Ref.4 Corresponds to variant rs4668246 [ dbSNP | Ensembl ]. | VAR_030606 | |||||
| Natural variant | 316 | 1 | H → L. Ref.4 Corresponds to variant rs55633190 [ dbSNP | Ensembl ]. | VAR_040889 | |||||
| Natural variant | 352 | 1 | E → Q. Ref.4 Corresponds to variant rs56179904 [ dbSNP | Ensembl ]. | VAR_040890 | |||||
| Natural variant | 388 | 1 | N → S. Ref.4 Corresponds to variant rs34273653 [ dbSNP | Ensembl ]. | VAR_040891 | |||||
| Natural variant | 406 | 1 | A → T. Ref.4 Corresponds to variant rs10168181 [ dbSNP | Ensembl ]. | VAR_030607 | |||||
| Natural variant | 638 | 1 | Q → P. Ref.4 Corresponds to variant rs55911627 [ dbSNP | Ensembl ]. | VAR_040892 | |||||
| Natural variant | 770 | 1 | V → I. Ref.3 Ref.4 Corresponds to variant rs6736609 [ dbSNP | Ensembl ]. | VAR_030608 | |||||
| Natural variant | 773 | 1 | E → G. Ref.3 Ref.4 Corresponds to variant rs33962844 [ dbSNP | Ensembl ]. | VAR_040893 | |||||
| Natural variant | 798 | 1 | E → K. Corresponds to variant rs11892763 [ dbSNP | Ensembl ]. | VAR_030609 | |||||
| Natural variant | 918 | 1 | R → Q. Ref.4 Corresponds to variant rs55769829 [ dbSNP | Ensembl ]. | VAR_040894 | |||||
| Natural variant | 969 | 1 | S → C. Ref.4 Corresponds to variant rs35857918 [ dbSNP | Ensembl ]. | VAR_040895 | |||||
| Natural variant | 990 | 1 | R → C. Ref.4 Corresponds to variant rs34236931 [ dbSNP | Ensembl ]. | VAR_040896 | |||||
| Natural variant | 1082 | 1 | R → K. Ref.1 Ref.3 Corresponds to variant rs10185178 [ dbSNP | Ensembl ]. | VAR_030610 | |||||
| Natural variant | 1092 | 1 | I → V. Ref.4 Corresponds to variant rs34219776 [ dbSNP | Ensembl ]. | VAR_040897 | |||||
| Natural variant | 1137 | 1 | V → I. Ref.4 Corresponds to variant rs34546065 [ dbSNP | Ensembl ]. | VAR_040898 | |||||
| Natural variant | 1165 | 1 | R → C. Ref.4 Corresponds to variant rs56052422 [ dbSNP | Ensembl ]. | VAR_040899 | |||||
Experimental info | |||||||||
| Sequence conflict | 261 | 1 | K → R in BAB71011. Ref.3 | ||||||
| Sequence conflict | 573 | 1 | T → A in BAB71011. Ref.3 | ||||||
| Sequence conflict | 870 | 1 | K → M in AAL57233. Ref.1 | ||||||
| Sequence conflict | 870 | 1 | K → M in AAO13799. Ref.1 | ||||||
| Sequence conflict | 870 | 1 | K → M in AAO13800. Ref.1 | ||||||
| Sequence conflict | 870 | 1 | K → M in AAO13801. Ref.1 | ||||||
| Sequence conflict | 870 | 1 | K → M in AAO13802. Ref.1 | ||||||
| Sequence conflict | 870 | 1 | K → M in AAO13803. Ref.1 | ||||||
| Sequence conflict | 1081 | 1 | K → N in BAB71011. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A class III myosin expressed in the retina is a potential candidate for Bardet-Biedl syndrome." Dose A.C., Burnside B. Genomics 79:621-624(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5 AND 6), ALTERNATIVE SPLICING, VARIANT LYS-1082. |
| [2] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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] OF 1-1104 (ISOFORM 7), VARIANTS GLU-309; ILE-770; GLY-773 AND LYS-1082. Tissue: Kidney. |
| [4] | "Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. Stratton M.R.Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-21; HIS-185; SER-267; VAL-275; GLU-309; LEU-316; GLN-352; SER-388; THR-406; PRO-638; ILE-770; GLY-773; GLN-918; CYS-969; CYS-990; VAL-1092; ILE-1137 AND CYS-1165. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF369908 mRNA. Translation: AAL57233.1. AF391554 mRNA. Translation: AAO13799.1. AF391555 mRNA. Translation: AAO13800.1. AF391556 mRNA. Translation: AAO13801.1. AF391557 mRNA. Translation: AAO13802.1. AF391558 mRNA. Translation: AAO13803.1. AC007277 Genomic DNA. No translation available. AC012594 Genomic DNA. Translation: AAY24324.1. AC068280 Genomic DNA. No translation available. AC093402 Genomic DNA. No translation available. AC114794 Genomic DNA. Translation: AAY24159.1. AK055778 mRNA. Translation: BAB71011.1. |
| IPI | IPI00179193. IPI00217417. IPI00337720. IPI00385322. IPI00409999. IPI00827784. IPI00956214. |
| RefSeq | NP_001077084.2. NM_001083615.3. NP_620482.3. NM_138995.4. |
| UniGene | Hs.671900. |
3D structure databases | |
| ProteinModelPortal | Q8WXR4. |
| SMR | Q8WXR4. Positions 15-332, 335-1105. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8WXR4. 4 interactions. |
PTM databases | |
| PhosphoSite | Q8WXR4. |
Polymorphism databases | |
| DMDM | 296439486. |
Proteomic databases | |
| PaxDb | Q8WXR4. |
| PRIDE | Q8WXR4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000317935; ENSP00000314650; ENSG00000071909. ENST00000334231; ENSP00000335100; ENSG00000071909. ENST00000408978; ENSP00000386213; ENSG00000071909. ENST00000409044; ENSP00000386497; ENSG00000071909. |
| GeneID | 140469. |
| KEGG | hsa:140469. |
| UCSC | uc002ufv.3. human. uc002ufz.3. human. uc010fqb.1. human. |
Organism-specific databases | |
| CTD | 140469. |
| GeneCards | GC02P170998. |
| H-InvDB | HIX0002580. |
| HGNC | HGNC:15576. MYO3B. |
| MIM | 610040. gene. |
| neXtProt | NX_Q8WXR4. |
| PharmGKB | PA31406. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0515. |
| HOVERGEN | HBG052555. |
| InParanoid | Q8WXR4. |
| KO | K08834. |
| OMA | GEDEYYK. |
| OrthoDB | EOG490785. |
Gene expression databases | |
| ArrayExpress | Q8WXR4. |
| Bgee | Q8WXR4. |
| Genevestigator | Q8WXR4. |
| GermOnline | ENSG00000071909. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000048. IQ_motif_EF-hand-BS. IPR011009. Kinase-like_dom. IPR001609. Myosin_head_motor_dom. IPR000719. Prot_kinase_cat_dom. IPR017441. Protein_kinase_ATP_BS. IPR002290. Ser/Thr_dual-sp_kinase_dom. IPR008271. Ser/Thr_kinase_AS. [Graphical view] |
| Pfam | PF00612. IQ. 1 hit. PF00063. Myosin_head. 1 hit. PF00069. Pkinase. 1 hit. [Graphical view] |
| PRINTS | PR00193. MYOSINHEAVY. |
| SMART | SM00015. IQ. 2 hits. SM00242. MYSc. 1 hit. SM00220. S_TKc. 1 hit. [Graphical view] |
| SUPFAM | SSF56112. Kinase_like. 1 hit. |
| PROSITE | PS50096. IQ. 2 hits. PS00107. PROTEIN_KINASE_ATP. 1 hit. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChEMBL | CHEMBL5654. |
| GenomeRNAi | 140469. |
| NextBio | 84146. |
| SOURCE | Search... |
Entry information
| Entry name | MYO3B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WXR4 Secondary accession number(s): B8ZZR2 Q96N94 | ||||||||
| Entry history |
| ||||||||
| 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 and mouse protein kinases Human and mouse protein kinases: classification and index |
| Human chromosome 2 Human chromosome 2: 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
