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Q702N8 (XIRP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Xin actin-binding repeat-containing protein 1
Alternative name(s):
Cardiomyopathy-associated protein 1
Gene names
Name:XIRP1
Synonyms:CMYA1, XIN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1843 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 18431843Xin actin-binding repeat-containing protein 1
PRO_0000316983

Regions

Repeat89 – 10416Xin 1
Repeat121 – 13616Xin 2
Repeat151 – 16616Xin 3
Repeat186 – 20116Xin 4
Repeat226 – 24116Xin 5
Repeat264 – 27916Xin 6
Repeat302 – 31716Xin 7
Repeat340 – 35516Xin 8
Repeat376 – 39116Xin 9
Repeat436 – 45116Xin 10
Repeat507 – 52216Xin 11
Repeat545 – 56016Xin 12
Repeat589 – 60416Xin 13
Repeat621 – 63616Xin 14
Repeat654 – 66916Xin 15
Repeat691 – 70616Xin 16
Repeat723 – 73816Xin 17
Region1 – 5454Interaction with VASP
Region531 – 632102Interaction with CTNNB1 By similarity
Region1685 – 1843159Interaction with FLNC
Coiled coil1462 – 149029 Potential
Compositional bias23 – 286Poly-Pro
Compositional bias343 – 3464Poly-Gln
Compositional bias1247 – 1350104Pro-rich

Natural variations

Alternative sequence1 – 13171317Missing in isoform C.
VSP_030843
Alternative sequence1120 – 11212VS → LL in isoform B.
VSP_030844
Alternative sequence1122 – 1843722Missing in isoform B.
VSP_030845
Natural variant31D → N.
Corresponds to variant rs2271488 [ dbSNP | Ensembl ].
VAR_038439
Natural variant3461Q → R. Ref.5
Corresponds to variant rs6805248 [ dbSNP | Ensembl ].
VAR_038440
Natural variant5511R → Q.
Corresponds to variant rs34121641 [ dbSNP | Ensembl ].
VAR_038441
Natural variant6951R → C.
Corresponds to variant rs60540208 [ dbSNP | Ensembl ].
VAR_061722
Natural variant7761R → W.
Corresponds to variant rs9823779 [ dbSNP | Ensembl ].
VAR_061723
Natural variant9291L → H in a breast cancer sample; somatic mutation. Ref.8
VAR_038442
Natural variant9651H → P.
Corresponds to variant rs11711871 [ dbSNP | Ensembl ].
VAR_038443
Natural variant10461P → A.
Corresponds to variant rs35649793 [ dbSNP | Ensembl ].
VAR_038444
Natural variant10611A → V.
Corresponds to variant rs35795536 [ dbSNP | Ensembl ].
VAR_061724
Natural variant16041G → R. Ref.6
Corresponds to variant rs3732383 [ dbSNP | Ensembl ].
VAR_038445
Natural variant16081A → V.
Corresponds to variant rs34810344 [ dbSNP | Ensembl ].
VAR_038446
Natural variant16341R → K in a breast cancer sample; somatic mutation. Ref.8
VAR_038447
Natural variant17071Q → H.
Corresponds to variant rs34053674 [ dbSNP | Ensembl ].
VAR_061725
Natural variant17241I → V.
Corresponds to variant rs9827576 [ dbSNP | Ensembl ].
VAR_038448

Experimental info

Sequence conflict211D → G in CAH18268. Ref.5
Sequence conflict1061I → T in CAH18268. Ref.5
Sequence conflict2741E → G in CAH18268. Ref.5
Sequence conflict7541Q → P in CAH18268. Ref.5
Sequence conflict8131G → R in CAH18268. Ref.5
Sequence conflict15561K → R in BAC04783. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform A [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 41A5CC13FE1955CB

FASTA1,843198,561
        10         20         30         40         50         60 
MADTQTQVAP TPTMRMATAE DLPLPPPPAL EDLPLPPPKE SFSKFHQQRQ ASELRRLYRH 

        70         80         90        100        110        120 
IHPELRKNLA EAVAEDLAEV LGSEEPTEGD VQCMRWIFEN WRLDAIGEHE RPAAKEPVLC 

       130        140        150        160        170        180 
GDVQATSRKF EEGSFANSTD QEPTRPQPGG GDVRAARWLF ETKPLDELTG QAKELEATVR 

       190        200        210        220        230        240 
EPAASGDVQG TRMLFETRPL DRLGSRPSLQ EQSPLELRSE IQELKGDVKK TVKLFQTEPL 

       250        260        270        280        290        300 
CAIQDAEGAI HEVKAACREE IQSNAVRSAR WLFETRPLDA INQDPSQVRV IRGISLEEGA 

       310        320        330        340        350        360 
RPDVSATRWI FETQPLDAIR EILVDEKDFQ PSPDLIPPGP DVQQQQHLFE TRALDTLKGD 

       370        380        390        400        410        420 
EEAGAEAPPK EEVVPGDVRS TLWLFETKPL DAFRDKVQVG HLQRVDPQDG EGHLSSDSSS 

       430        440        450        460        470        480 
ALPFSQSAPQ RDELKGDVKT FKNLFETLPL DSIGQGEVLA HGSPSREEGT DSAGQAQGIG 

       490        500        510        520        530        540 
SPVYAMQDSK GRLHALTSVS REQIVGGDVQ GYRWMFETQP LDQLGRSPST IDVVRGITRQ 

       550        560        570        580        590        600 
EVVAGDVGTA RWLFETQPLE MIHQREQQER QKEEGKSQGD PQPEAPPKGD VQTIRWLFET 

       610        620        630        640        650        660 
CPMSELAEKQ GSEVTDPTAK AEAQSCTWMF KPQPVDRPVG SREQHLQVSQ VPAGERQTDR 

       670        680        690        700        710        720 
HVFETEPLQA SGRPCGRRPV RYCSRVEIPS GQVSRQKEVF QALEAGKKEE QEPRVIAGSI 

       730        740        750        760        770        780 
PAGSVHKFTW LFENCPMGSL AAESIQGGNL LEEQPMSPSG NRMQESQETA AEGTLRTLHA 

       790        800        810        820        830        840 
TPGILHHGGI LMEARGPGEL CLAKYVLSGT GQGHPYIRKE ELVSGELPRI ICQVLRRPDV 

       850        860        870        880        890        900 
DQQGLLVQED PTGQLQLKPL RLPTPGSSGN IEDMDPELQQ LLACGLGTSV ARTGLVMQET 

       910        920        930        940        950        960 
EQGLVALTAY SLQPRLTSKA SERSSVQLLA SCIDKGDLSG LHSLRWEPPA DPSPVPASEG 

       970        980        990       1000       1010       1020 
AQSLHPTESI IHVPPLDPSM GMGHLRASGA TPCPPQAIGK AVPLAGEAAA PAQLQNTEKQ 

      1030       1040       1050       1060       1070       1080 
EDSHSGQKGM AVLGKSEGAT TTPPGPGAPD LLAAMQSLRM ATAEAQSLHQ QVLNKHKQGP 

      1090       1100       1110       1120       1130       1140 
TPTATSNPIQ DGLRKAGATQ SNIRPGGGSD PRIPAAPRKV SREEQALPRG LPGGWVTIQD 

      1150       1160       1170       1180       1190       1200 
GIYTAHPVRT FDPPGGVQLS QREPQSRHRE TALSVQAPRP LQGGPGQSTG PGREEPGGCT 

      1210       1220       1230       1240       1250       1260 
QMAWGPPGKA MAEVCPGGLQ AAETTLKTAP LGRHILASGP QAAGASPHPH NAFVPPPPTL 

      1270       1280       1290       1300       1310       1320 
PAAVTGPDFP AGAHRAEDSI QQASEPLKDP LLHSHSSPAG QRTPGGSQTK TPKLDPTMPP 

      1330       1340       1350       1360       1370       1380 
KKKPQLPPKP AHLTQSHPPQ RLPKPLPLSP SFSSEVGQRE HQRGERDTAI PQPAKVPTTV 

      1390       1400       1410       1420       1430       1440 
DQGHIPLARC PSGHSQPSLQ HGLSTTAPRP TKNQATGSNA QSSEPPKLNA LNHDPTSPQW 

      1450       1460       1470       1480       1490       1500 
GPGPSGEQPM EGSHQGAPES PDSLQRNQKE LQGLLNQVQA LEKEAASSVD VQALRRLFEA 

      1510       1520       1530       1540       1550       1560 
VPQLGGAAPQ APAAHQKPEA SVEQAFGELT RVSTEVAQLK EQTLARLLDI EEAVHKALSS 

      1570       1580       1590       1600       1610       1620 
MSSLQPEASA RGHFQGPPKD HSAHKISVTV SSSARPSGSG QEVGGQTAVK NQAKVECHTE 

      1630       1640       1650       1660       1670       1680 
AQSQVKIRNH TEARGHTAST APSTRRQETS REYLCPPRVL PSSRDSPSSP TFISIQSATR 

      1690       1700       1710       1720       1730       1740 
KPLETPSFKG NPDVSVKSTQ LAQDIGQALL HQKGVQDKTG KKDITQCSVQ PEPAPPSASP 

      1750       1760       1770       1780       1790       1800 
LPRGWQKSVL ELQTGPGSSQ HYGAMRTVTE QYEEVDQFGN TVLMSSTTVT EQAEPPRNPG 

      1810       1820       1830       1840 
SHLGLHASPL LRQFLHSPAG FSSDLTEAET VQVSCSYSQP AAQ 

« Hide

Isoform B [UniParc].

Checksum: 6BC1414DF33DE804
Show »

FASTA1,121122,134
Isoform C [UniParc].

Checksum: 79911F6ED688EBE6
Show »

FASTA52656,273

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., 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.
RefSeqNP_001185550.1. NM_001198621.1.
NP_919269.2. NM_194293.2.
XP_005264966.1. XM_005264909.1.
UniGeneHs.447868.
Hs.737550.

3D structure databases

ProteinModelPortalQ702N8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ702N8. 1 interaction.
MINTMINT-8330054.

PTM databases

PhosphoSiteQ702N8.

Polymorphism databases

DMDM74712579.

Proteomic databases

PaxDbQ702N8.
PRIDEQ702N8.

Protocols and materials databases

DNASU165904.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000340369; ENSP00000343140; ENSG00000168334. [Q702N8-1]
ENST00000396251; ENSP00000379550; ENSG00000168334. [Q702N8-2]
ENST00000421646; ENSP00000391645; ENSG00000168334. [Q702N8-3]
GeneID165904.
KEGGhsa:165904.
UCSCuc003cji.3. human. [Q702N8-2]
uc003cjj.3. human. [Q702N8-3]
uc003cjk.2. human. [Q702N8-1]

Organism-specific databases

CTD165904.
GeneCardsGC03M039200.
H-InvDBHIX0003187.
HGNCHGNC:14301. XIRP1.
HPACAB026391.
HPA016750.
HPA018458.
MIM609777. gene.
neXtProtNX_Q702N8.
PharmGKBPA162409336.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85108.
HOVERGENHBG106912.
InParanoidQ702N8.
OMAPQSRHRE.
OrthoDBEOG72C4ZN.
PhylomeDBQ702N8.
TreeFamTF330745.

Gene expression databases

BgeeQ702N8.
GenevestigatorQ702N8.

Family and domain databases

InterProIPR012510. Actin-binding_Xin_repeat.
[Graphical view]
PfamPF08043. Xin. 8 hits.
[Graphical view]
PROSITEPS51389. XIN. 17 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi165904.
NextBio88568.
PROQ702N8.
SOURCESearch...

Entry information

Entry nameXIRP1_HUMAN
AccessionPrimary (citable) accession number: Q702N8
Secondary accession number(s): A0JP25 expand/collapse secondary AC list , A4QPE2, Q68DF2, Q6ZTR3, Q702N9, Q8IVN7, Q8N1N3, Q8N904, Q8TCG7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 78 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM