B2RTY4 (MYO9A_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 53.
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: Unconventional myosin-IXa Alternative name(s): Unconventional myosin-9a | ||||
| 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 | 2548 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho activity in neurons, has a role in the regulation of neuronal morphology and function By similarity. |
| Subcellular location | Membrane; Single-pass membrane protein Potential. |
| Tissue specificity | Found to be expressed in testis and placenta, and at lower levels in all the examined tissues with the exception of liver. Isoform 5 was found in leukocytes but not in brain, retina or testis. Ref.1 |
| Sequence similarities | Contains 5 IQ domains. Contains 2 myosin head-like domains. Contains 2 phorbol-ester/DAG-type zinc fingers. Contains 1 Ras-associating domain. Contains 1 Rho-GAP domain. |
| Caution | Represents a unconventional myosin. This protein should not be confused with the conventional myosin-9 (MYH9). |
| Sequence caution | The sequence BAA91979.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB14517.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: B2RTY4-1) 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: B2RTY4-2) The sequence of this isoform differs from the canonical sequence as follows: 367-385: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: B2RTY4-3) The sequence of this isoform differs from the canonical sequence as follows: 729-729: H → K 730-2548: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: B2RTY4-4) The sequence of this isoform differs from the canonical sequence as follows: 1714-1714: E → EVARPAHKKKARMARTRSDFLTRGTFADGEGDTEEDDYDDIIEPLLSLDQASHCELGPAPSLGQASHSDSEM | ||||||
| Isoform 5 (identifier: B2RTY4-5) The sequence of this isoform differs from the canonical sequence as follows: 45-280: Missing. | ||||||
| Note: Lacks the ATP-binding domain which suggests that it cannot interact with actin. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2548 | 2548 | Unconventional myosin-IXa | PRO_0000348440 | |||||
Regions | |||||||||
| Transmembrane | 175 – 195 | 21 | Helical; Potential | ||||||
| Domain | 14 – 112 | 99 | Ras-associating | ||||||
| Domain | 148 – 690 | 543 | Myosin head-like 1 | ||||||
| Domain | 884 – 1005 | 122 | Myosin head-like 2 | ||||||
| Domain | 1021 – 1041 | 21 | IQ 1 | ||||||
| Domain | 1042 – 1071 | 30 | IQ 2 | ||||||
| Domain | 1074 – 1103 | 30 | IQ 3 | ||||||
| Domain | 1115 – 1144 | 30 | IQ 4 | ||||||
| Domain | 1138 – 1167 | 30 | IQ 5 | ||||||
| Domain | 2063 – 2251 | 189 | Rho-GAP | ||||||
| Nucleotide binding | 239 – 246 | 8 | ATP Potential | ||||||
| Zinc finger | 1999 – 2048 | 50 | Phorbol-ester/DAG-type 1 | ||||||
| Zinc finger | 2068 – 2119 | 52 | Phorbol-ester/DAG-type 2 | ||||||
| Region | 907 – 918 | 12 | Actin-binding By similarity | ||||||
| Region | 1021 – 1162 | 142 | Neck or regulatory domain | ||||||
| Region | 1163 – 2511 | 1349 | Tail | ||||||
| Coiled coil | 1264 – 1291 | 28 | Potential | ||||||
| Coiled coil | 1486 – 1532 | 47 | Potential | ||||||
| Coiled coil | 2315 – 2358 | 44 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 770 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 1258 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1829 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 45 – 280 | 236 | Missing in isoform 5. | VSP_035156 | |||||
| Alternative sequence | 367 – 385 | 19 | Missing in isoform 2. | VSP_035157 | |||||
| Alternative sequence | 729 | 1 | H → K in isoform 3. | VSP_035158 | |||||
| Alternative sequence | 730 – 2548 | 1819 | Missing in isoform 3. | VSP_035159 | |||||
| Alternative sequence | 1714 | 1 | E → EVARPAHKKKARMARTRSDF LTRGTFADGEGDTEEDDYDD IIEPLLSLDQASHCELGPAP SLGQASHSDSEM in isoform 4. | VSP_035160 | |||||
| Natural variant | 37 | 1 | R → K. Ref.4 Corresponds to variant rs17855105 [ dbSNP | Ensembl ]. | VAR_046165 | |||||
| Natural variant | 85 | 1 | R → Q. Ref.1 | VAR_046166 | |||||
| Natural variant | 161 | 1 | T → I. Corresponds to variant rs2929516 [ dbSNP | Ensembl ]. | VAR_046167 | |||||
| Natural variant | 168 | 1 | N → D. Ref.1 | VAR_046168 | |||||
| Natural variant | 211 | 1 | L → P. Ref.1 | VAR_046169 | |||||
| Natural variant | 825 | 1 | A → V. Corresponds to variant rs11637562 [ dbSNP | Ensembl ]. | VAR_056189 | |||||
| Natural variant | 946 | 1 | R → Q. Ref.1 | VAR_046170 | |||||
| Natural variant | 1193 | 1 | G → E. Ref.1 Ref.3 Ref.4 Ref.6 Corresponds to variant rs2415129 [ dbSNP | Ensembl ]. | VAR_046171 | |||||
| Natural variant | 1362 | 1 | S → P. Ref.1 Corresponds to variant rs55738821 [ dbSNP | Ensembl ]. | VAR_046172 | |||||
| Natural variant | 1476 | 1 | P → R. Corresponds to variant rs16956375 [ dbSNP | Ensembl ]. | VAR_046173 | |||||
| Natural variant | 1795 | 1 | H → Y. Corresponds to variant rs16956367 [ dbSNP | Ensembl ]. | VAR_046174 | |||||
| Natural variant | 1805 | 1 | H → Q. Corresponds to variant rs2306575 [ dbSNP | Ensembl ]. | VAR_046175 | |||||
| Natural variant | 1834 | 1 | R → C. Ref.1 | VAR_046176 | |||||
| Natural variant | 2390 | 1 | I → V. Corresponds to variant rs2291280 [ dbSNP | Ensembl ]. | VAR_046177 | |||||
Experimental info | |||||||||
| Sequence conflict | 88 | 1 | L → R in CAA04947. Ref.5 | ||||||
| Sequence conflict | 94 | 1 | L → Q in CAA04947. Ref.5 | ||||||
| Sequence conflict | 104 | 1 | R → H in CAA04947. Ref.5 | ||||||
| Sequence conflict | 206 | 1 | H → R in CAA04947. Ref.5 | ||||||
| Sequence conflict | 394 | 1 | D → N in CAA04947. Ref.5 | ||||||
| Sequence conflict | 424 | 1 | S → P in CAA04947. Ref.5 | ||||||
| Sequence conflict | 504 | 1 | S → C in CAA04947. Ref.5 | ||||||
| Sequence conflict | 573 | 1 | E → D in CAA04947. Ref.5 | ||||||
| Sequence conflict | 595 | 1 | C → Y in CAA04947. Ref.5 | ||||||
| Sequence conflict | 694 | 1 | I → M in CAA04947. Ref.5 | ||||||
| Sequence conflict | 705 | 1 | L → I in CAA04947. Ref.5 | ||||||
| Sequence conflict | 1591 | 1 | S → P in BAB14517. Ref.10 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23." Gorman S.W., Haider N.B., Grieshammer U., Swiderski R.E., Kim E., Welch J.W., Searby C., Leng S., Carmi R., Sheffield V.C., Duhl D.M. Genomics 59:150-160(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 5), TISSUE SPECIFICITY, VARIANTS GLN-85; ASP-168; PRO-211; GLN-946; GLU-1193; PRO-1362 AND CYS-1834. |
| [2] | "Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. Nusbaum C.Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-1193. |
| [4] | "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] (ISOFORMS 1 AND 3), VARIANTS LYS-37 AND GLU-1193. Tissue: Placenta. |
| [5] | "Myr 7 is a novel myosin IX-RhoGAP expressed in rat brain." Chieregatti E., Gaertner A., Stoeffler H.-E., Baehler M. J. Cell Sci. 111:3597-3608(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-774 (ISOFORMS 1/4). |
| [6] | "Multiplex amplification and cloning of 5'-ends of cDNA by ligase-free recombination: preparation of full-length cDNA clones encoding motor proteins." Yamakawa H., Kikuno R.F., Nagase T., Ohara O. Submitted (JAN-2007) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-2548 (ISOFORM 1), VARIANT GLU-1193. Tissue: Brain. |
| [7] | "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types." Bement W.M., Hasson T., Wirth J.A., Cheney R.E., Mooseker M.S. Proc. Natl. Acad. Sci. U.S.A. 91:6549-6553(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 234-322 (ISOFORMS 1/2/3/4). |
| [8] | "Non-EST based prediction of exon skipping and intron retention events using Pfam information." Hiller M., Huse K., Platzer M., Backofen R. Nucleic Acids Res. 33:5611-5621(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 292-445 (ISOFORMS 1/2/3/4/5). |
| [9] | "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 1223-2548 (ISOFORM 4). Tissue: Testis. |
| [10] | "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 1457-1981 (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1984-2548 (ISOFORMS 1/2/4/5). Tissue: Ovary and Placenta. |
| [11] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [12] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF117888 mRNA. Translation: AAD49195.1. AC020779 Genomic DNA. No translation available. AC022872 Genomic DNA. No translation available. AC090454 Genomic DNA. No translation available. AC104938 Genomic DNA. No translation available. CH471082 Genomic DNA. Translation: EAW77880.1. BC060886 mRNA. Translation: AAH60886.1. BC140869 mRNA. Translation: AAI40870.1. AJ001714 mRNA. Translation: CAA04947.1. AB290183 mRNA. Translation: BAG06737.1. L29148 mRNA. Translation: AAA20911.1. DQ088983 mRNA. Translation: AAZ85978.1. DQ088984 mRNA. Translation: AAZ85979.1. AL137287 mRNA. Translation: CAB70679.1. AK001923 mRNA. Translation: BAA91979.1. Different initiation. AK023306 mRNA. Translation: BAB14517.1. Different initiation. |
| IPI | IPI00018057. IPI00160131. IPI00902852. IPI00902943. IPI00953559. |
| PIR | E59435. I61699. T46354. |
| RefSeq | NP_008832.2. NM_006901.3. |
| UniGene | Hs.546268. Hs.733087. |
3D structure databases | |
| ProteinModelPortal | B2RTY4. |
| SMR | B2RTY4. Positions 149-696, 816-1058, 1993-2244. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | B2RTY4. 5 interactions. |
| MINT | MINT-1425451. |
Proteomic databases | |
| PaxDb | B2RTY4. |
| PeptideAtlas | Q14787. |
| PRIDE | B2RTY4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000356056; ENSP00000348349; ENSG00000066933. ENST00000424560; ENSP00000399162; ENSG00000066933. ENST00000444904; ENSP00000398250; ENSG00000066933. |
| GeneID | 4649. |
| KEGG | hsa:4649. |
| UCSC | uc002atk.3. human. uc002atl.4. human. uc002ato.3. human. |
Organism-specific databases | |
| CTD | 4649. |
| GeneCards | GC15M072114. |
| H-InvDB | HIX0012401. |
| HGNC | HGNC:7608. MYO9A. |
| HPA | HPA039812. HPA040071. |
| MIM | 604875. gene. |
| neXtProt | NX_B2RTY4. |
| PharmGKB | PA31413. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5022. |
| HOVERGEN | HBG108165. |
| InParanoid | B2RTY4. |
| KO | K10360. |
| OMA | TCKPQLR. |
| OrthoDB | EOG4FJ87W. |
| PhylomeDB | B2RTY4. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. |
Gene expression databases | |
| ArrayExpress | B2RTY4. |
| Bgee | B2RTY4. |
| Genevestigator | B2RTY4. |
Family and domain databases | |
| Gene3D | 1.10.555.10. 1 hit. |
| InterPro | IPR000048. IQ_motif_EF-hand-BS. IPR001609. Myosin_head_motor_dom. IPR002219. Prot_Kinase_C-like_PE/DAG-bd. IPR000159. Ras-assoc. IPR008936. Rho_GTPase_activation_prot. IPR000198. RhoGAP_dom. [Graphical view] |
| Pfam | PF00612. IQ. 4 hits. PF00063. Myosin_head. 2 hits. PF00788. RA. 1 hit. PF00620. RhoGAP. 1 hit. [Graphical view] |
| PRINTS | PR00193. MYOSINHEAVY. |
| SMART | SM00109. C1. 1 hit. SM00015. IQ. 5 hits. SM00242. MYSc. 1 hit. SM00314. RA. 1 hit. SM00324. RhoGAP. 1 hit. [Graphical view] |
| SUPFAM | SSF48350. Rho_GAP. 1 hit. |
| PROSITE | PS50096. IQ. 4 hits. PS50200. RA. 1 hit. PS50238. RHOGAP. 1 hit. PS00479. ZF_DAG_PE_1. 1 hit. PS50081. ZF_DAG_PE_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 4649. |
| NextBio | 17924. |
| SOURCE | Search... |
Entry information
| Entry name | MYO9A_HUMAN | ||||||||
| Accession | Primary (citable) accession number: B2RTY4 Secondary accession number(s): B0I1T5 Q9UNJ2 | ||||||||
| 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 15 Human chromosome 15: 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
