Reviewed,
UniProtKB/Swiss-Prot Q9HBI1 (PARVB_HUMAN)
Last modified
February 9, 2010.
Version 80.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Beta-parvin Alternative name(s): Affixin | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete 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 | 364 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Probably plays a role in the regulation of cell adhesion and cytoskeleton organization. |
| Subunit structure | Interacts with DYSF. Interacts with integrin-linked protein kinase and actin. Ref.9 |
| Subcellular location | Cell junction › focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm › cytoskeleton. Note: Constituent of focal adhesions. |
| Tissue specificity | Expressed predominantly in heart and skeletal muscle. Ref.8 |
| Sequence similarities | Belongs to the parvin family. Contains 2 CH (calponin-homology) domains. |
| Sequence caution | The sequence AAD34051.1 differs from that shown. Reason: Frameshift at positions 4, 14, 48, 58, 155, 162, 171, 327, 331 and 344. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Cell adhesion |
| Cellular component | Cell junction Cell membrane Cytoplasm Cytoskeleton Membrane |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat |
| Ligand | Actin-binding |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell cytosolInferred from Experiment. Source: Reactome extrinsic to membraneInferred from electronic annotation. Source: UniProtKB-SubCell focal adhesionInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | actin 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 – 364 | 364 | Beta-parvin | PRO_0000121583 | |||||
Regions | |||||||||
| Domain | 87 – 194 | 108 | CH 1 | ||||||
| Domain | 254 – 361 | 108 | CH 2 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 54 | 1 | Phosphoserine Ref.10 | ||||||
Natural variations | |||||||||
| Natural variant | 52 | 1 | P → R: dbSNP rs34476853. | VAR_034369 | |||||
| Natural variant | 58 | 1 | V → A: dbSNP rs1983609. Ref.4 Ref.6 | VAR_017242 | |||||
Experimental info | |||||||||
| Sequence conflict | 27 | 1 | G → V in AAD34051. Ref.3 | ||||||
| Sequence conflict | 59 | 1 | D → M in AAD34051. Ref.3 | ||||||
| Sequence conflict | 349 | 1 | T → P in AAD34051. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A novel integrin-linked kinase-binding protein, affixin, is involved in the early stage of cell-substrate interaction." Yamaji S., Suzuki A., Sugiyama Y., Koide Y., Yoshida M., Kanamori H., Mohri H., Ohno S., Ishigatsubo Y. J. Cell Biol. 153:1251-1264(2001) [PubMed: 11402068] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Parvin, a 42 kDa focal adhesion protein, related to the alpha-actinin superfamily." Olski T.M., Noegel A.A., Korenbaum E. J. Cell Sci. 114:525-538(2001) [PubMed: 11171322] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [4] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-58. Tissue: Colon. |
| [5] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-58. Tissue: Brain. |
| [7] | "Reevaluating human gene annotation: a second-generation analysis of chromosome 22." Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I. Genome Res. 13:27-36(2003) [PubMed: 12529303] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-364. |
| [8] | "Genomic organization and expression profile of the parvin family of focal adhesion proteins in mice and humans." Korenbaum E., Olski T.M., Noegel A.A. Gene 279:69-79(2001) [PubMed: 11722847] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [9] | "Dysferlin interacts with affixin (beta-parvin) at the sarcolemma." Matsuda C., Kameyama K., Tagawa K., Ogawa M., Suzuki A., Yamaji S., Okamoto H., Nishino I., Hayashi Y.K. J. Neuropathol. Exp. Neurol. 64:334-340(2005) [PubMed: 15835269] [Abstract] Cited for: INTERACTION WITH DYSF. |
| [10] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-54, MASS SPECTROMETRY. |
| [11] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB048276 mRNA. Translation: BAB62077.1. AF237769 mRNA. Translation: AAG27171.1. AF151814 mRNA. Translation: AAD34051.1. Frameshift. AK313957 mRNA. Translation: BAG36673.1. AL031595, AL033543, Z82178 Genomic DNA. Translation: CAI22312.1. AL033543, AL031595, Z82178 Genomic DNA. Translation: CAI17969.1. Z82178, AL031595, AL033543 Genomic DNA. Translation: CAI18767.1. BC046103 mRNA. Translation: AAH46103.2. AL159142 mRNA. Translation: CAB76900.1. |
| IPI | IPI00043083. |
| RefSeq | NP_001003828.1. NP_037459.2. |
| UniGene | Hs.475074 |
3D structure databases | |
| SMR | Q9HBI1. Positions 91-357, 236-364. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9HBI1. 1 interaction. |
| STRING | Q9HBI1. |
PTM databases | |
| PhosphoSite | Q9HBI1. |
Proteomic databases | |
| PRIDE | Q9HBI1. |
Genome annotation databases | |
| Ensembl | ENST00000338758; ENSP00000342492; ENSG00000188677; Homo sapiens. [Genome view] |
| GeneID | 29780. |
| KEGG | hsa:29780. |
| UCSC | uc003ben.1. human. |
Organism-specific databases | |
| CTD | 29780. |
| GeneCards | GC22P042719. |
| H-InvDB | HIX0027834. |
| HGNC | HGNC:14653. PARVB. |
| MIM | 608121. gene. |
| PharmGKB | PA32951. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG15350. |
| HOVERGEN | Q9HBI1. |
| OMA | NAINAPM. |
Enzyme and pathway databases | |
| Reactome | REACT_20676. Cell junction organization. |
Gene expression databases | |
| ArrayExpress | Q9HBI1. |
| Bgee | Q9HBI1. |
| CleanEx | HS_PARVB. |
| Genevestigator | Q9HBI1. |
| GermOnline | ENSG00000188677. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016146. Calponin-homology. IPR001715. Calponin_act_bd. [Graphical view] |
| Gene3D | G3DSA:1.10.418.10. Calponin-homology. 2 hits. |
| Pfam | PF00307. CH. 2 hits. [Graphical view] |
| SMART | SM00033. CH. 2 hits. [Graphical view] |
| PROSITE | PS50021. CH. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 52306. |
| SOURCE | Search... |
Entry information
| Entry name | PARVB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HBI1 Secondary accession number(s): B2R9X6 Q9Y3L7 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 22 Human chromosome 22: 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


