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UniProtKB - Q711Q0 (CEFIP_HUMAN)
Protein
Cardiac-enriched FHL2-interacting protein
Gene
CEFIP
Organism
Homo sapiens (Human)
Status
Functioni
Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway.
By similarityGO - Biological processi
- positive regulation of calcineurin-NFAT signaling cascade Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q711Q0 |
SignaLinki | Q711Q0 |
Names & Taxonomyi
Protein namesi | Recommended name: Cardiac-enriched FHL2-interacting protein1 Publication |
Gene namesi | Name:CEFIP1 Publication Synonyms:C10orf71 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26973, C10orf71 |
neXtProti | NX_Q711Q0 |
VEuPathDBi | HostDB:ENSG00000177354 |
Subcellular locationi
Other locations
- Z line By similarity
Other locations
- Z disc Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 118461 |
OpenTargetsi | ENSG00000177354 |
PharmGKBi | PA134920715 |
Miscellaneous databases
Pharosi | Q711Q0, Tdark |
Genetic variation databases
BioMutai | C10orf71 |
DMDMi | 143955302 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000282979 | 1 – 1435 | Cardiac-enriched FHL2-interacting proteinAdd BLAST | 1435 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 120 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 323 | PhosphoserineCombined sources | 1 | |
Modified residuei | 470 | PhosphoserineCombined sources | 1 | |
Modified residuei | 816 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | Q711Q0 |
PaxDbi | Q711Q0 |
PeptideAtlasi | Q711Q0 |
PRIDEi | Q711Q0 |
ProteomicsDBi | 68588 [Q711Q0-1] 68589 [Q711Q0-3] |
PTM databases
iPTMneti | Q711Q0 |
PhosphoSitePlusi | Q711Q0 |
Expressioni
Tissue specificityi
Expressed in the heart and skeletal muscle.1 Publication
Gene expression databases
Bgeei | ENSG00000177354, Expressed in skeletal muscle tissue and 98 other tissues |
Genevisiblei | Q711Q0, HS |
Organism-specific databases
HPAi | ENSG00000177354, Group enriched (skeletal muscle, tongue) |
Interactioni
Subunit structurei
Interacts with FHL2.
1 PublicationProtein-protein interaction databases
BioGRIDi | 125609, 7 interactors |
IntActi | Q711Q0, 6 interactors |
STRINGi | 9606.ENSP00000363259 |
Miscellaneous databases
RNActi | Q711Q0, protein |
Structurei
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 109 – 176 | DisorderedSequence analysisAdd BLAST | 68 | |
Regioni | 203 – 234 | DisorderedSequence analysisAdd BLAST | 32 | |
Regioni | 250 – 270 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 291 – 311 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 361 – 592 | DisorderedSequence analysisAdd BLAST | 232 | |
Regioni | 609 – 772 | DisorderedSequence analysisAdd BLAST | 164 | |
Regioni | 795 – 847 | DisorderedSequence analysisAdd BLAST | 53 | |
Regioni | 1007 – 1108 | DisorderedSequence analysisAdd BLAST | 102 | |
Regioni | 1138 – 1261 | DisorderedSequence analysisAdd BLAST | 124 | |
Regioni | 1363 – 1435 | DisorderedSequence analysisAdd BLAST | 73 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 134 – 151 | Polar residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 399 – 427 | Polar residuesSequence analysisAdd BLAST | 29 | |
Compositional biasi | 463 – 482 | Polar residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 570 – 592 | Polar residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 635 – 662 | Basic and acidic residuesSequence analysisAdd BLAST | 28 | |
Compositional biasi | 669 – 697 | Polar residuesSequence analysisAdd BLAST | 29 | |
Compositional biasi | 714 – 746 | Polar residuesSequence analysisAdd BLAST | 33 | |
Compositional biasi | 747 – 772 | Basic and acidic residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 797 – 818 | Basic and acidic residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 827 – 847 | Polar residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 1054 – 1080 | Polar residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 1191 – 1210 | Basic and acidic residuesSequence analysisAdd BLAST | 20 |
Phylogenomic databases
eggNOGi | ENOG502QVE3, Eukaryota |
GeneTreei | ENSGT00730000111333 |
HOGENOMi | CLU_255771_0_0_1 |
InParanoidi | Q711Q0 |
OMAi | HYSPPFN |
OrthoDBi | 416362at2759 |
PhylomeDBi | Q711Q0 |
TreeFami | TF336978 |
Family and domain databases
InterProi | View protein in InterPro IPR027838, DUF4585 |
Pfami | View protein in Pfam PF15232, DUF4585, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q711Q0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MMQGNKKCTD AFSDSSSIGS VLDDADREVS SLTDRAFRSL CISEDTSFHD
60 70 80 90 100
SYLAVSPDIT RQVFGTFHQR TVGHTQRKSG IWSQLPSQGT EHSGWAATFQ
110 120 130 140 150
QLPKYVQGEE KYPKTSPPPT PVQRRLEVPV SGLRSSNKPV SKVSTLIKSF
160 170 180 190 200
DRTESQRCES RPTASKPPAL KNPPKFAPLP ENSVNFCFDS AFLTVRRVPA
210 220 230 240 250
EVSNTHQNSY QPGRKHGEQE SSKNPEMACH GSSSFLPAAN DTATLCESKF
260 270 280 290 300
PSPHHKPVTG EPGRGKGTFL HSENSAFESW NAHQPKLLER KDTAGTVPES
310 320 330 340 350
KAPKHYGDTT LLREPCPPER TVSPCQVQAS CSQEENRLAA GALSTSIPWG
360 370 380 390 400
CRDPGAQVFA VEGKAPSSQP DSQEKPAQPP WRKPKTGKKG KESLQDTLEE
410 420 430 440 450
KTQTNQRGPP LYTKHNPQEQ FSENNALDLP VEPNEHYDPP FNISKLLTPI
460 470 480 490 500
IPSKHALDSA DSQPAERTPS PPGQLNGYQE KEPSECQSRD SYKSKAPSLL
510 520 530 540 550
FNLKDVRKRV KSTYSSSPLL KVLDEKTRGK VDGKQEPVSN GVILPNGLEE
560 570 580 590 600
SPPNELSKER PADDPTASHI NPQKDPTADP SEPSADSYLT LSTAPTIAKA
610 620 630 640 650
PFYVNGEAAE RSSYENKEVE GELEMGPAGS SWCPDSREHR PRKHLSLRLC
660 670 680 690 700
NRDPEPGGAT EKMKTHQLEN GLSRSVSQET EPEREAGLQN THLNQKFFPG
710 720 730 740 750
PLSPEEEDVF YSDSQSDFMP SLKGKAKFST SSSDQSFASF DDQQKMWFTE
760 770 780 790 800
NQREDRRKDV SAGDSQKDEK ENVMRKDELQ YCALSNGHAC LENRSQGEAL
810 820 830 840 850
QRERESVSGG RTRKASAEEA NFRGSWIGEN KGTTFSQAKD LTPSPSSASN
860 870 880 890 900
RHMLFTIKDN TLRATPVIKP IMLPLLRTMS LEDSLSSGHK EEELPRPEWG
910 920 930 940 950
EDPGFCAPEN QDILGTSTPT NTRGTRVKCM ANEVMEDPGQ GSSMARMEAS
960 970 980 990 1000
QPAPKGNFPS MPLVGEGDRV KAPPDAAPGL VASNCKSGSA DSGKLAAPWH
1010 1020 1030 1040 1050
IPTIALPEGD IEDQPPPWQP ENCWEEQTPG FKSHFLSTPR AGPPGRRLVP
1060 1070 1080 1090 1100
SERANSPNPG SPGESSACSP AASNIWEESS QAPGGPELLP EEPNQASPWA
1110 1120 1130 1140 1150
SSSPARVTRR EDLTHALVWE GGSDPLLELS AEDLRTLSPR GSLLDVATSP
1160 1170 1180 1190 1200
AGTSGRLELP AQLERTASKP PAVPPKTEKA LRRAKKLASK RRKTDQAQEK
1210 1220 1230 1240 1250
HGESQEGKPC PEDLEQTQQR PLCPRERPRH NFPVVRSLPP PVHRHSVSGF
1260 1270 1280 1290 1300
SEPVGRRPGG PQSLTPLPAY PATQKVLQDP QSGEYFVFDL PLQVKIKTFY
1310 1320 1330 1340 1350
DPETGKYVKV SIPSSEGASP EPPPPDALAA PYVLYPGFQP VPVTALMPLR
1360 1370 1380 1390 1400
CSSQLSAPTF LRQGPRASAA RARTQSVHES GLQLDPGPHG DCTPHSAGQR
1410 1420 1430
PHGPPQSPGE EGVEAPGLGI ISTDDLEDFA TEGIS
Sequence cautioni
The sequence CAC85340 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 339 | A → E in AL833265 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 339 | A → E in AAI26414 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 382 | R → G in AL833265 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 503 | L → H in AL833265 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 663 | M → V in AK127811 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 870 – 871 | PI → RL in CAC85340 (Ref. 5) Curated | 2 | |
Sequence conflicti | 1269 | A → T in AL833265 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1281 | Q → H in CAC85340 (Ref. 5) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031441 | 208 | N → K1 PublicationCorresponds to variant dbSNP:rs4838383Ensembl. | 1 | |
Natural variantiVAR_061604 | 320 | R → L2 PublicationsCorresponds to variant dbSNP:rs56206226Ensembl. | 1 | |
Natural variantiVAR_061605 | 461 | D → A2 PublicationsCorresponds to variant dbSNP:rs45554335Ensembl. | 1 | |
Natural variantiVAR_061606 | 522 | V → G. Corresponds to variant dbSNP:rs61453891EnsemblClinVar. | 1 | |
Natural variantiVAR_031442 | 666 | H → Q. Corresponds to variant dbSNP:rs10857469Ensembl. | 1 | |
Natural variantiVAR_059608 | 698 | F → S1 PublicationCorresponds to variant dbSNP:rs7921186Ensembl. | 1 | |
Natural variantiVAR_059609 | 741 | D → G. Corresponds to variant dbSNP:rs11101093Ensembl. | 1 | |
Natural variantiVAR_059610 | 883 | D → N1 PublicationCorresponds to variant dbSNP:rs12217617Ensembl. | 1 | |
Natural variantiVAR_059611 | 958 | F → Y. Corresponds to variant dbSNP:rs10857470Ensembl. | 1 | |
Natural variantiVAR_059612 | 1084 | G → A. Corresponds to variant dbSNP:rs11101094Ensembl. | 1 | |
Natural variantiVAR_059613 | 1254 | V → I. Corresponds to variant dbSNP:rs11101095Ensembl. | 1 | |
Natural variantiVAR_059614 | 1337 | G → S. Corresponds to variant dbSNP:rs10857472Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024267 | 693 – 719 | LNQKF…QSDFM → THTHTHTHTHDHQHILSLFR SIKSRRQ in isoform 3. 2 PublicationsAdd BLAST | 27 | |
Alternative sequenceiVSP_024268 | 720 – 1435 | Missing in isoform 3. 2 PublicationsAdd BLAST | 716 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK127811 mRNA No translation available. AL833265 mRNA No translation available. AC027674 Genomic DNA No translation available. BC126413 mRNA Translation: AAI26414.1 AJ311357 mRNA Translation: CAC85340.1 Frameshift. |
CCDSi | CCDS44387.1 [Q711Q0-1] |
RefSeqi | NP_001128668.1, NM_001135196.1 [Q711Q0-1] XP_005269533.1, XM_005269476.4 [Q711Q0-1] XP_005269534.1, XM_005269477.3 [Q711Q0-1] XP_005269535.1, XM_005269478.4 [Q711Q0-1] |
Genome annotation databases
Ensembli | ENST00000374144; ENSP00000363259; ENSG00000177354 |
GeneIDi | 118461 |
KEGGi | hsa:118461 |
MANE-Selecti | ENST00000374144.8; ENSP00000363259.3; NM_001135196.2; NP_001128668.1 |
UCSCi | uc021pqa.3, human [Q711Q0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK127811 mRNA No translation available. AL833265 mRNA No translation available. AC027674 Genomic DNA No translation available. BC126413 mRNA Translation: AAI26414.1 AJ311357 mRNA Translation: CAC85340.1 Frameshift. |
CCDSi | CCDS44387.1 [Q711Q0-1] |
RefSeqi | NP_001128668.1, NM_001135196.1 [Q711Q0-1] XP_005269533.1, XM_005269476.4 [Q711Q0-1] XP_005269534.1, XM_005269477.3 [Q711Q0-1] XP_005269535.1, XM_005269478.4 [Q711Q0-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 125609, 7 interactors |
IntActi | Q711Q0, 6 interactors |
STRINGi | 9606.ENSP00000363259 |
PTM databases
iPTMneti | Q711Q0 |
PhosphoSitePlusi | Q711Q0 |
Genetic variation databases
BioMutai | C10orf71 |
DMDMi | 143955302 |
Proteomic databases
MassIVEi | Q711Q0 |
PaxDbi | Q711Q0 |
PeptideAtlasi | Q711Q0 |
PRIDEi | Q711Q0 |
ProteomicsDBi | 68588 [Q711Q0-1] 68589 [Q711Q0-3] |
Protocols and materials databases
Antibodypediai | 50031, 26 antibodies from 10 providers |
DNASUi | 118461 |
Genome annotation databases
Ensembli | ENST00000374144; ENSP00000363259; ENSG00000177354 |
GeneIDi | 118461 |
KEGGi | hsa:118461 |
MANE-Selecti | ENST00000374144.8; ENSP00000363259.3; NM_001135196.2; NP_001128668.1 |
UCSCi | uc021pqa.3, human [Q711Q0-1] |
Organism-specific databases
CTDi | 118461 |
DisGeNETi | 118461 |
GeneCardsi | C10orf71 |
HGNCi | HGNC:26973, C10orf71 |
HPAi | ENSG00000177354, Group enriched (skeletal muscle, tongue) |
neXtProti | NX_Q711Q0 |
OpenTargetsi | ENSG00000177354 |
PharmGKBi | PA134920715 |
VEuPathDBi | HostDB:ENSG00000177354 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QVE3, Eukaryota |
GeneTreei | ENSGT00730000111333 |
HOGENOMi | CLU_255771_0_0_1 |
InParanoidi | Q711Q0 |
OMAi | HYSPPFN |
OrthoDBi | 416362at2759 |
PhylomeDBi | Q711Q0 |
TreeFami | TF336978 |
Enzyme and pathway databases
PathwayCommonsi | Q711Q0 |
SignaLinki | Q711Q0 |
Miscellaneous databases
BioGRID-ORCSi | 118461, 5 hits in 1017 CRISPR screens |
ChiTaRSi | C10orf71, human |
GenomeRNAii | 118461 |
Pharosi | Q711Q0, Tdark |
PROi | PR:Q711Q0 |
RNActi | Q711Q0, protein |
Gene expression databases
Bgeei | ENSG00000177354, Expressed in skeletal muscle tissue and 98 other tissues |
Genevisiblei | Q711Q0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR027838, DUF4585 |
Pfami | View protein in Pfam PF15232, DUF4585, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CEFIP_HUMAN | |
Accessioni | Q711Q0Primary (citable) accession number: Q711Q0 Secondary accession number(s): A0AVL8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 3, 2007 |
Last sequence update: | April 3, 2007 | |
Last modified: | February 23, 2022 | |
This is version 112 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports