A4UGR9 (XIRP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 43.
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 2 Alternative name(s): Beta-xin Cardiomyopathy-associated protein 3 Xeplin | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 3374 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Protects actin filaments from depolymerization. Ref.7 |
| Subunit structure | Interacts with ACTN2 By similarity. Interacts with F-actin. Ref.7 |
| Subcellular location | Cell junction. Note: Colocalizes with actin stress fibers By similarity. Ref.7 |
| Domain | Xin repeats bind F-actin. |
| Miscellaneous | 'Xin' means 'heart' in Chinese. |
| Sequence similarities | Belongs to the Xin family. Contains 28 Xin repeats. |
| Sequence caution | The sequence AAH18673.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAY24138.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAD38624.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence CAD89958.1 differs from that shown. Reason: Contaminating sequence. The sequence CAD91141.2 differs from that shown. Reason: Contaminating sequence. |
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 | actin cytoskeleton organization Inferred from electronic annotation. Source: InterPro |
| Cellular component | cell junction Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | actin binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | |||||||||
| Isoform 1 (identifier: A4UGR9-1) 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: A4UGR9-2) The sequence of this isoform differs from the canonical sequence as follows: 1-47: Missing. | |||||||||
| Isoform 3 (identifier: A4UGR9-3) The sequence of this isoform differs from the canonical sequence as follows: 3344-3345: EA → GK 3346-3374: Missing. | |||||||||
| Isoform 4 (identifier: A4UGR9-4) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MFPMQKGSLN...KGKETSFDKM 218-771: TESEYEETFK...LEEVDRGDVK → KLLLQDKEIC...KRNRCYSDTE 772-3374: Missing. | |||||||||
Sequence annotation (Features) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
| Natural variant | 757 | 1 | R → G. Corresponds to variant rs3749005 [ dbSNP | Ensembl ]. | ||||||
| Natural variant | 885 | 1 | V → G. Corresponds to variant rs3749006 [ dbSNP | Ensembl ]. | ||||||
| Natural variant | 905 | 1 | E → Q. Corresponds to variant rs16853344 [ dbSNP | Ensembl ]. | ||||||
| Isoform 5 (identifier: A4UGR9-5) The sequence of this isoform differs from the canonical sequence as follows: 218-771: TESEYEETFK...LEEVDRGDVK → KLLLQDKEIC...KRNRCYSDTE 772-3374: Missing. | |||||||||
| Isoform 6 (identifier: A4UGR9-6) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MFPMQKGSLN...KGKETSFDKM 13-13: A → AVFSTDQAQILRLHLHPKLTKTPKNSLKSSTYIS 218-771: TESEYEETFK...LEEVDRGDVK → KLLLQDKEIC...KRNRCYSDTE 772-3374: Missing. | |||||||||
| Isoform 7 (identifier: A4UGR9-7) The sequence of this isoform differs from the canonical sequence as follows: 1-47: Missing. 218-771: TESEYEETFK...LEEVDRGDVK → KLLLQDKEIC...KRNRCYSDTE 772-3374: Missing. | |||||||||
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 3374 | 3374 | Xin actin-binding repeat-containing protein 2 | PRO_0000316987 | |||||
Regions | |||||||||
| Repeat | 362 – 377 | 16 | Xin 1 | ||||||
| Repeat | 397 – 412 | 16 | Xin 2 | ||||||
| Repeat | 437 – 452 | 16 | Xin 3 | ||||||
| Repeat | 474 – 489 | 16 | Xin 4 | ||||||
| Repeat | 512 – 527 | 16 | Xin 5 | ||||||
| Repeat | 552 – 567 | 16 | Xin 6 | ||||||
| Repeat | 590 – 605 | 16 | Xin 7 | ||||||
| Repeat | 628 – 643 | 16 | Xin 8 | ||||||
| Repeat | 661 – 676 | 16 | Xin 9 | ||||||
| Repeat | 695 – 710 | 16 | Xin 10 | ||||||
| Repeat | 732 – 747 | 16 | Xin 11 | ||||||
| Repeat | 768 – 783 | 16 | Xin 12 | ||||||
| Repeat | 799 – 814 | 16 | Xin 13 | ||||||
| Repeat | 837 – 852 | 16 | Xin 14 | ||||||
| Repeat | 875 – 890 | 16 | Xin 15 | ||||||
| Repeat | 914 – 929 | 16 | Xin 16 | ||||||
| Repeat | 947 – 962 | 16 | Xin 17 | ||||||
| Repeat | 985 – 1000 | 16 | Xin 18 | ||||||
| Repeat | 1020 – 1035 | 16 | Xin 19 | ||||||
| Repeat | 1059 – 1074 | 16 | Xin 20 | ||||||
| Repeat | 1095 – 1110 | 16 | Xin 21 | ||||||
| Repeat | 1132 – 1147 | 16 | Xin 22 | ||||||
| Repeat | 1170 – 1185 | 16 | Xin 23 | ||||||
| Repeat | 1207 – 1222 | 16 | Xin 24 | ||||||
| Repeat | 1241 – 1256 | 16 | Xin 25 | ||||||
| Repeat | 1272 – 1287 | 16 | Xin 26 | ||||||
| Repeat | 1310 – 1325 | 16 | Xin 27 | ||||||
| Repeat | 1345 – 1360 | 16 | Xin 28 | ||||||
| Coiled coil | 1736 – 1763 | 28 | Potential | ||||||
| Coiled coil | 2369 – 2394 | 26 | Potential | ||||||
| Coiled coil | 2768 – 2792 | 25 | Potential | ||||||
| Coiled coil | 2823 – 2849 | 27 | Potential | ||||||
| Compositional bias | 278 – 282 | 5 | Poly-Pro | ||||||
| Compositional bias | 1036 – 1041 | 6 | Poly-Ser | ||||||
| Compositional bias | 2113 – 2201 | 89 | Pro-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 47 | 47 | Missing in isoform 2 and isoform 7. | VSP_030846 | |||||
| Alternative sequence | 1 | 1 | M → MFPMQKGSLNLLRQKWESCD YQRSECHPRDSHCTIFQPQE SKLLAPEGEVVSAPQSLDPT SLPYSTGEEMWSSKPEEKDS VDKSNNTREYGRPEVLKEDS LSSRRRIERFSIALDELRSV FEAPKSGNKPAEYGGKEVEI ERSLCSPAFKSHPGSQLEDS VKDSDKKGKETSFDKM in isoform 4 and isoform 6. | VSP_035717 | |||||
| Alternative sequence | 13 | 1 | A → AVFSTDQAQILRLHLHPKLT KTPKNSLKSSTYIS in isoform 6. | VSP_035718 | |||||
| Alternative sequence | 218 – 771 | 554 | TESEY…RGDVK → KLLLQDKEICILCQKTVYPM ECLVADKQNFHKSCFRCHHC NSKLSLGNYASLHGQIYCKP HFKQLFKSKGNYDEGFGHKQ HKDRWNCKNQSRSVDFIPNE EPNMCKNIAENTLVPGDRNE HLDAGNSEGQRNDLRKLGER GKLKVIWPPSKEIPKKTLPF EEELKMSKPKWPPEMTTLLS PEFKSESLLEDVRTPENKGQ RQDHFPFLQPYLQSTHVCQK EDVIGIKEMKMPEGRKDEKK EGRKNVQDRPSEAEDTKSNR KSAMDLNDNNNVIVQSAEKE KNEKTNQTNGAEVLQVTNTD DEMMPENHKENLNKNNNNNY VAVSYLNNCRQKTSILEFLD LLPLSSEANDTANEYEIEKL ENTSRISELLGIFESEKTYS RNVLAMALKKQTDRAAAGSP VQPAPKPSLSRGLMVKGGSS IISPDTNLLNIKGSHSKSKN LHFFFSNTVKITAFSKKNEN IFNCDLIDSVDQIKNMPCLD LREFGKDVKPWHVETTEAAR NNENTGFDALSHECTAKPLF PRVEVQSEQLTVEEQIKRNR CYSDTE in isoform 4, isoform 5, isoform 6 and isoform 7. | VSP_035719 | |||||
| Alternative sequence | 772 – 3374 | 2603 | Missing in isoform 4, isoform 5, isoform 6 and isoform 7. | VSP_035720 | |||||
| Alternative sequence | 3344 – 3345 | 2 | EA → GK in isoform 3. | VSP_030847 | |||||
| Alternative sequence | 3346 – 3374 | 29 | Missing in isoform 3. | VSP_030848 | |||||
| Natural variant | 450 | 1 | P → A. Corresponds to variant rs16853305 [ dbSNP | Ensembl ]. | VAR_038449 | |||||
| Natural variant | 457 | 1 | Y → H. Corresponds to variant rs16853306 [ dbSNP | Ensembl ]. | VAR_038450 | |||||
| Natural variant | 1397 | 1 | I → T. Corresponds to variant rs7588159 [ dbSNP | Ensembl ]. | VAR_038451 | |||||
| Natural variant | 1488 | 1 | I → T. Corresponds to variant rs7591107 [ dbSNP | Ensembl ]. | VAR_038452 | |||||
| Natural variant | 1626 | 1 | R → H. Corresponds to variant rs16853309 [ dbSNP | Ensembl ]. | VAR_038453 | |||||
| Natural variant | 1833 | 1 | N → S. Corresponds to variant rs7607246 [ dbSNP | Ensembl ]. | VAR_038454 | |||||
| Natural variant | 2423 | 1 | L → R. Corresponds to variant rs16853326 [ dbSNP | Ensembl ]. | VAR_038455 | |||||
| Natural variant | 2553 | 1 | S → N. Corresponds to variant rs16853328 [ dbSNP | Ensembl ]. | VAR_038456 | |||||
| Natural variant | 2595 | 1 | H → Y. Corresponds to variant rs16853329 [ dbSNP | Ensembl ]. | VAR_038457 | |||||
| Natural variant | 2607 | 1 | V → I. Corresponds to variant rs16853330 [ dbSNP | Ensembl ]. | VAR_038458 | |||||
| Natural variant | 2728 | 1 | G → D. Corresponds to variant rs3749002 [ dbSNP | Ensembl ]. | VAR_038459 | |||||
| Natural variant | 2910 | 1 | A → T. Corresponds to variant rs16853331 [ dbSNP | Ensembl ]. | VAR_038460 | |||||
| Natural variant | 2975 | 1 | Y → C. Corresponds to variant rs3749003 [ dbSNP | Ensembl ]. | VAR_038461 | |||||
| Natural variant | 3022 | 1 | I → V. Corresponds to variant rs3749004 [ dbSNP | Ensembl ]. | VAR_038462 | |||||
| Natural variant | 3202 | 1 | G → E. Corresponds to variant rs16853333 [ dbSNP | Ensembl ]. | VAR_038463 | |||||
Experimental info | |||||||||
| Sequence conflict | 112 | 1 | E → G in AAH18673. Ref.6 | ||||||
| Sequence conflict | 926 | 1 | Q → L in CAF25193. Ref.7 | ||||||
| Sequence conflict | 926 | 1 | Q → L in CAD38624. Ref.8 | ||||||
| Sequence conflict | 1144 | 1 | Q → R in CAF25193. Ref.7 | ||||||
| Sequence conflict | 1144 | 1 | Q → R in CAD38624. Ref.8 | ||||||
| Sequence conflict | 2318 | 1 | S → P in CAD91137. Ref.8 | ||||||
| Sequence conflict | 2522 | 1 | H → P in CAD91146. Ref.8 | ||||||
| Sequence conflict | 2661 | 1 | I → M in CAD91139. Ref.8 | ||||||
| Sequence conflict | 2665 | 1 | K → N in CAD89958. Ref.8 | ||||||
| Sequence conflict | 2713 | 1 | Q → R in CAD89919. Ref.8 | ||||||
| Sequence conflict | 2967 | 1 | S → A in CAD91141. Ref.8 | ||||||
| Sequence conflict | 2996 | 1 | S → P in CAD89919. Ref.8 | ||||||
| Sequence conflict | 3013 | 1 | T → A in CAD91154. Ref.8 | ||||||
| Sequence conflict | 3079 | 1 | E → G in CAD91137. Ref.8 | ||||||
| Sequence conflict | 3121 | 1 | I → T in CAD89958. Ref.8 | ||||||
| Sequence conflict | 3166 | 1 | E → G in CAD91141. Ref.8 | ||||||
| Sequence conflict | 3259 | 1 | M → V in CAD91139. Ref.8 | ||||||
| Sequence conflict | 3264 | 1 | S → L in CAD91141. Ref.8 | ||||||
| Sequence conflict | 3329 | 1 | T → A in CAD91146. Ref.8 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A novel gene containing a Xin repeat." Luo J., Liu M., Wu X. Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). |
| [2] | "bXin: genes, splice variants and cellular distribution of a family of proteins implicated." Wang K., Xie L., Tsai W.L., Gutierrez-Cruz G. Submitted (NOV-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 4; 6 AND 7). Tissue: Heart and Testis. |
| [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 901-1683 (ISOFORMS 1/2/3). Tissue: Tongue. |
| [4] | "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: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases 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] OF 112-748 (ISOFORMS 1/2/3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3177-3374 (ISOFORMS 1/2). Tissue: Skeletal muscle. |
| [7] | "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: 15454575] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 361-1380 (ISOFORMS 1/2/3), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH F-ACTIN. Tissue: Skeletal muscle. |
| [8] | "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: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 439-3374 (ISOFORMS 1/2). Tissue: Skeletal muscle. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY820969 mRNA. Translation: AAV87913.1. EF119717 mRNA. Translation: ABO69245.1. EF119718 mRNA. Translation: ABO69246.1. EF119719 mRNA. Translation: ABO69247.1. EF119720 mRNA. Translation: ABO69248.1. EF119721 mRNA. Translation: ABO69249.1. EF119722 mRNA. Translation: ABO69250.1. EF119711 mRNA. Translation: ABO69251.1. AK096430 mRNA. No translation available. AK122889 mRNA. Translation: BAG53782.1. AC093684 Genomic DNA. Translation: AAY24138.1. Sequence problems. AC108494 Genomic DNA. No translation available. AC133782 Genomic DNA. No translation available. AC092601 Genomic DNA. No translation available. CH471058 Genomic DNA. Translation: EAX11311.1. BC018673 mRNA. Translation: AAH18673.1. Sequence problems. BC022888 mRNA. No translation available. AJ626901 mRNA. Translation: CAF25193.1. AL832331 mRNA. Translation: CAD38624.1. Sequence problems. AL831970 mRNA. Translation: CAD89919.1. AL832452 mRNA. Translation: CAD89958.1. Sequence problems. AL832336 mRNA. Translation: CAD91137.1. AL831985 mRNA. Translation: CAD91139.1. AL833291 mRNA. Translation: CAD91141.2. Sequence problems. AL832011 mRNA. Translation: CAD91146.1. AL832360 mRNA. Translation: CAD91154.1. AL832382 mRNA. Translation: CAD91156.1. |
| IPI | IPI00167400. IPI00550232. IPI00885004. IPI00893002. IPI00915318. IPI00915341. IPI01015807. |
| RefSeq | NP_001073278.1. NM_001079810.3. NP_001186072.1. NM_001199143.1. NP_001186073.1. NM_001199144.1. NP_001186074.1. NM_001199145.1. NP_689594.4. NM_152381.5. |
| UniGene | Hs.73680. |
3D structure databases | |
| ProteinModelPortal | A4UGR9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | A4UGR9. 1 interaction. |
| STRING | A4UGR9. |
PTM databases | |
| PhosphoSite | A4UGR9. |
Proteomic databases | |
| PRIDE | A4UGR9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000295237; ENSP00000295237; ENSG00000163092. ENST00000409195; ENSP00000386840; ENSG00000163092. ENST00000413534; ENSP00000393625; ENSG00000163092. |
| GeneID | 129446. |
| KEGG | hsa:129446. |
| UCSC | uc002udx.1. human. uc002udy.2. human. |
Organism-specific databases | |
| CTD | 129446. |
| GeneCards | GC02P167744. |
| H-InvDB | HIX0002564. |
| HGNC | HGNC:14303. XIRP2. |
| HPA | HPA034813. |
| MIM | 609778. gene. |
| neXtProt | NX_A4UGR9. |
| PharmGKB | PA162409337. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG06833. |
| GeneTree | ENSGT00530000063779. |
| HOVERGEN | HBG108682. |
| InParanoid | A4UGR9. |
Gene expression databases | |
| Bgee | A4UGR9. |
| Genevestigator | A4UGR9. |
Family and domain databases | |
| InterPro | IPR012510. Actin-binding_Xin_repeat. [Graphical view] |
| Pfam | PF08043. Xin. 14 hits. [Graphical view] |
| PROSITE | PS51389. XIN. 28 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 82581. |
| SOURCE | Search... |
Entry information
| Entry name | XIRP2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: A4UGR9 Secondary accession number(s): A0PJ94 Q8TBV6 | ||||||||
| 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 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