Q7Z6L0 (PRRT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 76.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Proline-rich transmembrane protein 2 Alternative name(s): Dispanin subfamily B member 3 Short name=DSPB3 | ||
| 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 | 340 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subunit structure | Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing By similarity. |
| Subcellular location | Cell membrane; Multi-pass membrane protein. Cell junction › synapse By similarity Ref.6. |
| Involvement in disease | Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066]: A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Seizures, benign familial infantile 2 (BFIS2) [MIM:605751]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. |
| Sequence similarities | Belongs to the CD225/Dispanin family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell junction Cell membrane Membrane Synapse |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Dystonia Epilepsy |
| Domain | Transmembrane Transmembrane helix |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | response to biotic stimulus Inferred from electronic annotation. Source: InterPro |
| Cellular_component | cell junction Inferred from electronic annotation. Source: UniProtKB-KW integral to membraneInferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell synapseInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q7Z6L0-1) 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: Q7Z6L0-2) The sequence of this isoform differs from the canonical sequence as follows: 337-337: G → GGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPT | ||||||
| Isoform 3 (identifier: Q7Z6L0-3) The sequence of this isoform differs from the canonical sequence as follows: 294-340: SRNSLQQGDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK → VSPMGP | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 340 | 340 | Proline-rich transmembrane protein 2 | PRO_0000307745 | |||||
Regions | |||||||||
| Topological domain | 1 – 268 | 268 | Extracellular Potential | ||||||
| Transmembrane | 269 – 289 | 21 | Helical; Potential | ||||||
| Topological domain | 290 – 317 | 28 | Cytoplasmic Potential | ||||||
| Transmembrane | 318 – 338 | 21 | Helical; Potential | ||||||
| Topological domain | 339 – 340 | 2 | Extracellular Potential | ||||||
| Compositional bias | 131 – 216 | 86 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 53 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 294 – 340 | 47 | SRNSL…LGVYK → VSPMGP in isoform 3. | VSP_028814 | |||||
| Alternative sequence | 337 | 1 | G → GGEWGLGTGRGGMEGLARAA LLTPAPALSCLSSLPLLCLS LSPPPPVCPSLSSPT in isoform 2. | VSP_028815 | |||||
| Natural variant | 138 | 1 | P → A. Ref.6 Corresponds to variant rs79182085 [ dbSNP | Ensembl ]. | VAR_067010 | |||||
| Natural variant | 147 | 1 | D → H. Ref.6 Corresponds to variant rs79568162 [ dbSNP | Ensembl ]. | VAR_067011 | |||||
| Natural variant | 214 | 1 | A → P. Ref.6 | VAR_067012 | |||||
| Natural variant | 215 | 1 | P → R. Ref.7 Corresponds to variant rs200926711 [ dbSNP | Ensembl ]. | VAR_067320 | |||||
| Natural variant | 216 | 1 | P → L. Ref.7 Corresponds to variant rs76335820 [ dbSNP | Ensembl ]. | VAR_067321 | |||||
| Natural variant | 237 | 1 | G → R. Ref.6 Corresponds to variant rs199556853 [ dbSNP | Ensembl ]. | VAR_067013 | |||||
| Natural variant | 245 | 1 | R → H. Ref.6 | VAR_067014 | |||||
| Natural variant | 266 | 1 | R → W in EKD1. Ref.11 | VAR_067322 | |||||
| Natural variant | 281 | 1 | W → R in EKD1. Ref.13 | VAR_067323 | |||||
| Natural variant | 287 | 1 | A → T in EKD1. Ref.13 | VAR_067324 | |||||
| Natural variant | 305 | 1 | G → R in EKD1. Ref.9 | VAR_067325 | |||||
| Natural variant | 308 | 1 | R → C in EKD1. Ref.13 | VAR_067326 | |||||
| Natural variant | 317 | 1 | S → N in ICCA. Ref.7 | VAR_067327 | |||||
| Natural variant | 323 | 1 | G → E in BFIS2. Ref.12 | VAR_068426 | |||||
Experimental info | |||||||||
| Sequence conflict | 151 | 1 | T → S in AAH11405. Ref.5 | ||||||
| Sequence conflict | 214 | 1 | A → AP in CAD38881. Ref.3 | ||||||
| Sequence conflict | 275 | 1 | S → P in CAD38881. Ref.3 | ||||||
Sequences
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References
Web resources
| Proline-rich transmembrane protein 2 (PRRT2) Leiden Open Variation Database (LOVD) |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK092265 mRNA. Translation: BAC03843.1. AK074572 mRNA. Translation: BAC11067.1. AK292393 mRNA. Translation: BAF85082.1. AL834185 mRNA. Translation: CAD38881.1. CH471238 Genomic DNA. Translation: EAW79991.1. BC011405 mRNA. Translation: AAH11405.1. BC053594 mRNA. Translation: AAH53594.1. |
| IPI | IPI00328520. IPI00642382. IPI00718906. |
| RefSeq | NP_001243371.1. NM_001256442.1. NP_001243372.1. NM_001256443.1. NP_660282.2. NM_145239.2. |
| UniGene | Hs.655071. |
3D structure databases | |
| ProteinModelPortal | Q7Z6L0. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q7Z6L0. 1 interaction. |
| MINT | MINT-1420001. |
| STRING | 9606.ENSP00000351608. |
PTM databases | |
| PhosphoSite | Q7Z6L0. |
Polymorphism databases | |
| DMDM | 74738828. |
Proteomic databases | |
| PaxDb | Q7Z6L0. |
| PRIDE | Q7Z6L0. |
Protocols and materials databases | |
| DNASU | 112476. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000300797; ENSP00000300797; ENSG00000167371. ENST00000358758; ENSP00000351608; ENSG00000167371. ENST00000567659; ENSP00000456226; ENSG00000167371. |
| GeneID | 112476. |
| KEGG | hsa:112476. |
| UCSC | uc002dud.2. human. uc002due.4. human. uc002duf.1. human. |
Organism-specific databases | |
| CTD | 112476. |
| GeneCards | GC16P029823. |
| H-InvDB | HIX0012947. |
| HGNC | HGNC:30500. PRRT2. |
| HPA | HPA014447. |
| MIM | 128200. phenotype. 602066. phenotype. 605751. phenotype. 614386. gene. |
| neXtProt | NX_Q7Z6L0. |
| Orphanet | 306. Benign familial infantile seizures. 31709. ICCA syndrome. 98809. Paroxysmal kinesigenic dyskinesia. |
| PharmGKB | PA142671132. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG292287. |
| HOGENOM | HOG000115721. |
| HOVERGEN | HBG097184. |
| InParanoid | Q7Z6L0. |
| OMA | TQKPRDY. |
| OrthoDB | EOG4HHP3X. |
| PhylomeDB | Q7Z6L0. |
Enzyme and pathway databases | |
| SignaLink | Q7Z6L0. |
Gene expression databases | |
| ArrayExpress | Q7Z6L0. |
| Bgee | Q7Z6L0. |
| CleanEx | HS_PRRT2. |
| Genevestigator | Q7Z6L0. |
Family and domain databases | |
| InterPro | IPR007593. Interferon-induced_TM_protein. [Graphical view] |
| Pfam | PF04505. CD225. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 112476. |
| NextBio | 78590. |
| SOURCE | Search... |
Entry information
| Entry name | PRRT2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7Z6L0 Secondary accession number(s): A8K8M8 Q96FA8 | ||||||||
| 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 16 Human chromosome 16: 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
