Q702N8 (XIRP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 70.
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: Xin actin-binding repeat-containing protein 1 Alternative name(s): Cardiomyopathy-associated protein 1 | ||||
| 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 | 1843 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Protects actin filaments from depolymerization. Ref.1 |
| Subunit structure | Interacts with CTNNB1 By similarity. Interacts with F-actin, FLNC and VASP. Ref.1 Ref.2 |
| Subcellular location | Cell junction. Note: Colocalizes with actin stress fibers. Ref.1 |
| Tissue specificity | Isoform A, isoform B and isoform C are expressed in heart. Ref.2 |
| Domain | Xin repeats bind F-actin. |
| Miscellaneous | 'Xin' means 'heart' in Chinese. |
| Sequence similarities | Belongs to the Xin family. Contains 17 Xin repeats. |
| Sequence caution | The sequence BAC86519.1 differs from that shown. Reason: Erroneous initiation. The sequence CAC81057.1 differs from that shown. Reason: Frameshift at position 1594. The sequence CAD28459.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell junction |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Repeat |
| Ligand | Actin-binding |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cardiac muscle cell development Inferred from electronic annotation. Source: Compara negative regulation of cell proliferationInferred from electronic annotation. Source: Compara regulation of membrane potentialInferred from electronic annotation. Source: Compara sarcomere organizationInferred from electronic annotation. Source: Compara |
| Cellular_component | fascia adherens Inferred from electronic annotation. Source: Compara |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform A (identifier: Q702N8-1) 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 B (identifier: Q702N8-2) The sequence of this isoform differs from the canonical sequence as follows: 1120-1121: VS → LL 1122-1843: Missing. | ||||||
| Isoform C (identifier: Q702N8-3) The sequence of this isoform differs from the canonical sequence as follows: 1-1317: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1843 | 1843 | Xin actin-binding repeat-containing protein 1 | PRO_0000316983 | |||||
Regions | |||||||||
| Repeat | 89 – 104 | 16 | Xin 1 | ||||||
| Repeat | 121 – 136 | 16 | Xin 2 | ||||||
| Repeat | 151 – 166 | 16 | Xin 3 | ||||||
| Repeat | 186 – 201 | 16 | Xin 4 | ||||||
| Repeat | 226 – 241 | 16 | Xin 5 | ||||||
| Repeat | 264 – 279 | 16 | Xin 6 | ||||||
| Repeat | 302 – 317 | 16 | Xin 7 | ||||||
| Repeat | 340 – 355 | 16 | Xin 8 | ||||||
| Repeat | 376 – 391 | 16 | Xin 9 | ||||||
| Repeat | 436 – 451 | 16 | Xin 10 | ||||||
| Repeat | 507 – 522 | 16 | Xin 11 | ||||||
| Repeat | 545 – 560 | 16 | Xin 12 | ||||||
| Repeat | 589 – 604 | 16 | Xin 13 | ||||||
| Repeat | 621 – 636 | 16 | Xin 14 | ||||||
| Repeat | 654 – 669 | 16 | Xin 15 | ||||||
| Repeat | 691 – 706 | 16 | Xin 16 | ||||||
| Repeat | 723 – 738 | 16 | Xin 17 | ||||||
| Region | 1 – 54 | 54 | Interaction with VASP | ||||||
| Region | 531 – 632 | 102 | Interaction with CTNNB1 By similarity | ||||||
| Region | 1685 – 1843 | 159 | Interaction with FLNC | ||||||
| Coiled coil | 1462 – 1490 | 29 | Potential | ||||||
| Compositional bias | 23 – 28 | 6 | Poly-Pro | ||||||
| Compositional bias | 343 – 346 | 4 | Poly-Gln | ||||||
| Compositional bias | 1247 – 1350 | 104 | Pro-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 1317 | 1317 | Missing in isoform C. | VSP_030843 | |||||
| Alternative sequence | 1120 – 1121 | 2 | VS → LL in isoform B. | VSP_030844 | |||||
| Alternative sequence | 1122 – 1843 | 722 | Missing in isoform B. | VSP_030845 | |||||
| Natural variant | 3 | 1 | D → N. Corresponds to variant rs2271488 [ dbSNP | Ensembl ]. | VAR_038439 | |||||
| Natural variant | 346 | 1 | Q → R. Ref.5 Corresponds to variant rs6805248 [ dbSNP | Ensembl ]. | VAR_038440 | |||||
| Natural variant | 551 | 1 | R → Q. Corresponds to variant rs34121641 [ dbSNP | Ensembl ]. | VAR_038441 | |||||
| Natural variant | 695 | 1 | R → C. Corresponds to variant rs60540208 [ dbSNP | Ensembl ]. | VAR_061722 | |||||
| Natural variant | 776 | 1 | R → W. Corresponds to variant rs9823779 [ dbSNP | Ensembl ]. | VAR_061723 | |||||
| Natural variant | 929 | 1 | L → H in a breast cancer sample; somatic mutation. Ref.8 | VAR_038442 | |||||
| Natural variant | 965 | 1 | H → P. Corresponds to variant rs11711871 [ dbSNP | Ensembl ]. | VAR_038443 | |||||
| Natural variant | 1046 | 1 | P → A. Corresponds to variant rs35649793 [ dbSNP | Ensembl ]. | VAR_038444 | |||||
| Natural variant | 1061 | 1 | A → V. Corresponds to variant rs35795536 [ dbSNP | Ensembl ]. | VAR_061724 | |||||
| Natural variant | 1604 | 1 | G → R. Ref.6 Corresponds to variant rs3732383 [ dbSNP | Ensembl ]. | VAR_038445 | |||||
| Natural variant | 1608 | 1 | A → V. Corresponds to variant rs34810344 [ dbSNP | Ensembl ]. | VAR_038446 | |||||
| Natural variant | 1634 | 1 | R → K in a breast cancer sample; somatic mutation. Ref.8 | VAR_038447 | |||||
| Natural variant | 1707 | 1 | Q → H. Corresponds to variant rs34053674 [ dbSNP | Ensembl ]. | VAR_061725 | |||||
| Natural variant | 1724 | 1 | I → V. Corresponds to variant rs9827576 [ dbSNP | Ensembl ]. | VAR_038448 | |||||
Experimental info | |||||||||
| Sequence conflict | 21 | 1 | D → G in CAH18268. Ref.5 | ||||||
| Sequence conflict | 106 | 1 | I → T in CAH18268. Ref.5 | ||||||
| Sequence conflict | 274 | 1 | E → G in CAH18268. Ref.5 | ||||||
| Sequence conflict | 754 | 1 | Q → P in CAH18268. Ref.5 | ||||||
| Sequence conflict | 813 | 1 | G → R in CAH18268. Ref.5 | ||||||
| Sequence conflict | 1556 | 1 | K → R in BAC04783. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Xin repeats define a novel actin-binding motif." Pacholsky D., Vakeel P., Himmel M., Loewe T., Stradal T., Rottner K., Fuerst D.O., van der Ven P.F.M. J. Cell Sci. 117:5257-5268(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH F-ACTIN. Tissue: Skeletal muscle. |
| [2] | "Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP." van der Ven P.F.M., Ehler E., Vakeel P., Eulitz S., Schenk J.A., Milting H., Micheel B., Fuerst D.O. Exp. Cell Res. 312:2154-2167(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), ALTERNATIVE SPLICING (ISOFORMS B AND C), TISSUE SPECIFICITY, INTERACTION WITH FLNC AND VASP. Tissue: Skeletal muscle. |
| [3] | "A novel human gene, hXin, specifically expressed in human heart and skeletal muscle." Luo J., Liu M., Wu X. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A). |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM C), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 444-1843 (ISOFORM A). Tissue: Heart, Tongue and Trachea. |
| [5] | "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] (ISOFORM B), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 570-1623 (ISOFORM A), VARIANT ARG-346. Tissue: Liver and Skeletal muscle. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM C), VARIANT ARG-1604. |
| [7] | "Study of a muscle specific transcript." Trevisan S., Lanfranchi G. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1554-1843. |
| [8] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-929 AND LYS-1634. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ626899 mRNA. Translation: CAF25191.1. AJ626900 mRNA. Translation: CAF25192.1. AY375160 mRNA. Translation: AAQ64003.1. AK095941 mRNA. Translation: BAC04655.1. AK096421 mRNA. Translation: BAC04783.1. AK126299 mRNA. Translation: BAC86519.1. Different initiation. AL713648 mRNA. Translation: CAD28459.1. Different initiation. CR749430 mRNA. Translation: CAH18268.1. BC127119 mRNA. Translation: AAI27120.1. BC139782 mRNA. Translation: AAI39783.1. AJ271461 mRNA. Translation: CAC81057.1. Frameshift. |
| IPI | IPI00793675. IPI00794464. IPI00794625. |
| RefSeq | NP_001185550.1. NM_001198621.1. NP_919269.2. NM_194293.2. |
| UniGene | Hs.447868. Hs.737550. |
3D structure databases | |
| ProteinModelPortal | Q702N8. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q702N8. |
Polymorphism databases | |
| DMDM | 74712579. |
Proteomic databases | |
| PaxDb | Q702N8. |
| PRIDE | Q702N8. |
Protocols and materials databases | |
| DNASU | 165904. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000340369; ENSP00000343140; ENSG00000168334. ENST00000396251; ENSP00000379550; ENSG00000168334. ENST00000421646; ENSP00000391645; ENSG00000168334. |
| GeneID | 165904. |
| KEGG | hsa:165904. |
| UCSC | uc003cji.3. human. uc003cjj.3. human. uc003cjk.2. human. |
Organism-specific databases | |
| CTD | 165904. |
| GeneCards | GC03M039200. |
| H-InvDB | HIX0003187. |
| HGNC | HGNC:14301. XIRP1. |
| HPA | CAB026391. HPA016750. HPA018458. |
| MIM | 609777. gene. |
| neXtProt | NX_Q702N8. |
| PharmGKB | PA162409336. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG85108. |
| HOVERGEN | HBG106912. |
| InParanoid | Q702N8. |
| OMA | YTAHPVR. |
| PhylomeDB | Q702N8. |
Gene expression databases | |
| Bgee | Q702N8. |
| Genevestigator | Q702N8. |
Family and domain databases | |
| InterPro | IPR012510. Actin-binding_Xin_repeat. [Graphical view] |
| Pfam | PF08043. Xin. 8 hits. [Graphical view] |
| PROSITE | PS51389. XIN. 17 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 165904. |
| NextBio | 88568. |
| SOURCE | Search... |
Entry information
| Entry name | XIRP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q702N8 Secondary accession number(s): A0JP25 Q8TCG7 | ||||||||
| 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 3 Human chromosome 3: 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
