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UniProtKB - A4FU69 (EFCB5_HUMAN)
Protein
EF-hand calcium-binding domain-containing protein 5
Gene
EFCAB5
Organism
Homo sapiens (Human)
Status
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 882 – 893 | PROSITE-ProRule annotationAdd BLAST | 12 |
GO - Molecular functioni
- calcium ion binding Source: InterPro
Keywordsi
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | A4FU69 |
SignaLinki | A4FU69 |
Names & Taxonomyi
Protein namesi | Recommended name: EF-hand calcium-binding domain-containing protein 5 |
Gene namesi | Name:EFCAB5 |
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:24801, EFCAB5 |
neXtProti | NX_A4FU69 |
VEuPathDBi | HostDB:ENSG00000176927 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 374786 |
OpenTargetsi | ENSG00000176927 |
PharmGKBi | PA145008457 |
Miscellaneous databases
Pharosi | A4FU69, Tdark |
Genetic variation databases
BioMutai | EFCAB5 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000315836 | 1 – 1503 | EF-hand calcium-binding domain-containing protein 5Add BLAST | 1503 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 77 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | A4FU69 |
MassIVEi | A4FU69 |
MaxQBi | A4FU69 |
PaxDbi | A4FU69 |
PeptideAtlasi | A4FU69 |
PRIDEi | A4FU69 |
ProteomicsDBi | 24772 5619 669 [A4FU69-1] 670 [A4FU69-2] 671 [A4FU69-3] 672 [A4FU69-4] |
PTM databases
iPTMneti | A4FU69 |
PhosphoSitePlusi | A4FU69 |
Expressioni
Gene expression databases
Bgeei | ENSG00000176927, Expressed in testis and 118 other tissues |
ExpressionAtlasi | A4FU69, baseline and differential |
Genevisiblei | A4FU69, HS |
Organism-specific databases
HPAi | ENSG00000176927, Tissue enriched (testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 131921, 6 interactors |
IntActi | A4FU69, 3 interactors |
MINTi | A4FU69 |
STRINGi | 9606.ENSP00000378312 |
Miscellaneous databases
RNActi | A4FU69, protein |
Structurei
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 869 – 904 | EF-handPROSITE-ProRule annotationAdd BLAST | 36 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 23 | DisorderedSequence analysisAdd BLAST | 23 | |
Regioni | 477 – 518 | DisorderedSequence analysisAdd BLAST | 42 | |
Regioni | 544 – 656 | DisorderedSequence analysisAdd BLAST | 113 | |
Regioni | 730 – 750 | DisorderedSequence analysisAdd BLAST | 21 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 546 – 561 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 562 – 577 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 589 – 603 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 604 – 625 | Basic and acidic residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 730 – 749 | Basic and acidic residuesSequence analysisAdd BLAST | 20 |
Phylogenomic databases
eggNOGi | ENOG502R5M0, Eukaryota |
GeneTreei | ENSGT00940000154049 |
HOGENOMi | CLU_006376_0_0_1 |
InParanoidi | A4FU69 |
OMAi | IELLYHW |
OrthoDBi | 1482025at2759 |
PhylomeDBi | A4FU69 |
TreeFami | TF329659 |
Family and domain databases
Gene3Di | 3.30.450.40, 1 hit |
InterProi | View protein in InterPro IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR029016, GAF-like_dom_sf |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 1 hit PS50222, EF_HAND_2, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: A4FU69-1) [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
MNESASQEEL RPAQENRKED KERKWNLTEV KELHETLQSV PDVPVKEDTN
60 70 80 90 100
SVVEKAMDEI KSQELNLEGQ RKISPGSIKD SKTEASGNIA IRKSAKVIFA
110 120 130 140 150
LDETELKSKP EHTWKKNLFE RMEARAQAMQ QKIIDKENLK KELEKKAEKK
160 170 180 190 200
LPRDNLAKEW FNTDSMTLNN TAYLLDKLLP TLVPGVENML TQVEKKKVLT
210 220 230 240 250
EADTPSKFDP INYLGEYLIR NNPNYIKDPG MSGYQRLMKE VTEDLKIYVP
260 270 280 290 300
DTICNRVSKM KENVKQNRKQ RESIDKIIVK VANTRKQALQ EQFDEWILDP
310 320 330 340 350
KGMIPKSVIQ NVLQEFFQNP DFKLGSHCKQ LDITDSTEPR LNKMEFTEYI
360 370 380 390 400
SSHIKDLKSE MFEELLKHLC HSADEFREVI KADMRRQMFA ELFLHCDHGK
410 420 430 440 450
VGFLDRQRTL ALLELFYDHS SQMLRSLLRN PRQWPFIEFE EINLTELWGD
460 470 480 490 500
MDNQKHIYEG FDKVLLEMNT LLSANHASKT QSKLLESPDQ PKLNEQRTST
510 520 530 540 550
PSPNPPEQQR GVTAEQGPQR ISIEEQQQGK KPTAEQELYI ESVIEPGTHT
560 570 580 590 600
ESTLEQGSSR RLLTEQETHR ESTTEQGQHK GSIEGQGPRR VSVSEQGSSR
610 620 630 640 650
ESVAEQGSRR ESIAEQDRHK GSVAEQGSRR MSAAEQGSLR ESVIEEPYQK
660 670 680 690 700
SEQGPYGEII SEEQEDIGST SQSRKDSILK STKYGEPITS EYIEVPLQEK
710 720 730 740 750
RSWEQTYEEE IFLSSELQEE VPTLSRKDHF PETTKKEVQK DKPCEPKSQK
760 770 780 790 800
IEGKSWSGEF FTCNWKMKYV TFEDEEQANL IYGNSRFTDL HSIIRNIQSC
810 820 830 840 850
KEVKGRTAFN GVSFNLLQFV QLLETFVGED APLSVSETLT SFFKEGYVET
860 870 880 890 900
EQEKMNALEQ FSQNAFQVRQ RLLLEAIFQK WDSDGSGFLD LKEVDELLYT
910 920 930 940 950
YKEGMEKESM KKAKLHIQFP KPHPGHEVRL SSKQFQNYIE LVVSELRGNE
960 970 980 990 1000
DQVLESVVEF LMNALERSHI ESLRNSARRK WLHQIQCAAE TSGVSLEPVY
1010 1020 1030 1040 1050
SETFKALMQD AEAHGNKKIS AHISLLEENL LLPEKGNVLL RNVACTLDDA
1060 1070 1080 1090 1100
QFVLNRVLYR DMKGISFTVV DEGKPIHVPQ VQYHGNIFFW NQSRNKHDYN
1110 1120 1130 1140 1150
GSFLALPLQD AYMRIFGVLA VDTLRDPHEI NIFLPHEIRF YQGVANVFST
1160 1170 1180 1190 1200
AYHYVHSREH ILHIVITGIG WLYDVTSSIT SITTYFVEPS PAQDSDYVLR
1210 1220 1230 1240 1250
NMMVTGQLGL TEIHKNPPTI HRKSCIFRDF LFKCTDSSEV VLASACGETH
1260 1270 1280 1290 1300
IVVPLRERTG EALGVLDFNI GQNRMLLCQE YKDLQKMMKV VQVACYEILG
1310 1320 1330 1340 1350
EFSGEIKKKY ILEIENVREV QRAGILFFRI MLLELQESIQ LLNSMEFVSL
1360 1370 1380 1390 1400
LLYDHTLVTE PNSPQDSKSM ELEANVKLVR DILKAVILFF HPELEFSSDF
1410 1420 1430 1440 1450
GSWDKCKFYV NKYLVNNICA FDPTAKHVEV NVQLIDEYIR DHSRTEVWKF
1460 1470 1480 1490 1500
GNVVIEHLYH WIHICSALMK ITKQLNSGIT PPLPSKTDNY MYAKMPGEGL
QEK
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EJC3 | K7EJC3_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB5 | 774 | Annotation score: | ||
H0Y843 | H0Y843_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB5 | 1,185 | Annotation score: | ||
C9J1E6 | C9J1E6_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB5 | 103 | Annotation score: | ||
H0Y4M1 | H0Y4M1_HUMAN | EF-hand calcium-binding domain-cont... | EFCAB5 | 56 | Annotation score: |
Sequence cautioni
The sequence BAC87284 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 324 | L → P in BX648689 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 374 | D → E in BX648689 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 429 | R → Q in BAC87284 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 962 | M → I in BAC87284 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 1386 | V → G in CAD38767 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038343 | 237 | L → V1 PublicationCorresponds to variant dbSNP:rs9897794Ensembl. | 1 | |
Natural variantiVAR_038344 | 278 | I → K3 PublicationsCorresponds to variant dbSNP:rs4795524Ensembl. | 1 | |
Natural variantiVAR_038345 | 561 | R → S. Corresponds to variant dbSNP:rs9900546Ensembl. | 1 | |
Natural variantiVAR_048644 | 1145 | A → D. Corresponds to variant dbSNP:rs9894896Ensembl. | 1 | |
Natural variantiVAR_048645 | 1252 | V → A. Corresponds to variant dbSNP:rs4499292Ensembl. | 1 | |
Natural variantiVAR_048646 | 1274 | R → T. Corresponds to variant dbSNP:rs35724168Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055510 | 1 – 343 | Missing in isoform 6. 1 PublicationAdd BLAST | 343 | |
Alternative sequenceiVSP_047184 | 1 – 56 | Missing in isoform 5. 1 PublicationAdd BLAST | 56 | |
Alternative sequenceiVSP_030732 | 789 – 912 | Missing in isoform 3. 1 PublicationAdd BLAST | 124 | |
Alternative sequenceiVSP_047185 | 861 – 912 | FSQNA…ESMKK → VSLCRQAGVQWRNCSSLQPP TPGLKRSSHHRLLSNWDYRE RRKFFPLETKFP in isoform 5 and isoform 6. 1 PublicationAdd BLAST | 52 | |
Alternative sequenceiVSP_047186 | 913 – 1503 | Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST | 591 | |
Alternative sequenceiVSP_030733 | 913 – 1440 | Missing in isoform 4. 1 PublicationAdd BLAST | 528 | |
Alternative sequenceiVSP_030734 | 913 – 926 | AKLHI…PHPGH → GLTLSPGWSAVAQL in isoform 2. 1 PublicationAdd BLAST | 14 | |
Alternative sequenceiVSP_030735 | 927 – 1503 | Missing in isoform 2. 1 PublicationAdd BLAST | 577 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK128126 mRNA Translation: BAC87284.1 Different initiation. AK299608 mRNA Translation: BAG61537.1 AK303060 mRNA Translation: BAG64177.1 BX648689 mRNA No translation available. AL833911 mRNA Translation: CAD38767.1 AC104982 Genomic DNA No translation available. AC104984 Genomic DNA No translation available. AC104996 Genomic DNA No translation available. BC110608 mRNA Translation: AAI10609.1 BC110609 mRNA Translation: AAI10610.1 BC119807 mRNA Translation: AAI19808.1 BC137519 mRNA Translation: AAI37520.1 |
CCDSi | CCDS11254.2 [A4FU69-1] CCDS54103.1 [A4FU69-5] |
RefSeqi | NP_001138525.1, NM_001145053.1 [A4FU69-5] NP_940931.2, NM_198529.3 [A4FU69-1] |
Genome annotation databases
Ensembli | ENST00000394835; ENSP00000378312; ENSG00000176927 ENST00000440741; ENSP00000393095; ENSG00000176927 [A4FU69-2] ENST00000536908; ENSP00000440619; ENSG00000176927 [A4FU69-5] |
GeneIDi | 374786 |
KEGGi | hsa:374786 |
MANE-Selecti | ENST00000394835.8; ENSP00000378312.3; NM_198529.4; NP_940931.3 |
UCSCi | uc002het.3, human [A4FU69-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK128126 mRNA Translation: BAC87284.1 Different initiation. AK299608 mRNA Translation: BAG61537.1 AK303060 mRNA Translation: BAG64177.1 BX648689 mRNA No translation available. AL833911 mRNA Translation: CAD38767.1 AC104982 Genomic DNA No translation available. AC104984 Genomic DNA No translation available. AC104996 Genomic DNA No translation available. BC110608 mRNA Translation: AAI10609.1 BC110609 mRNA Translation: AAI10610.1 BC119807 mRNA Translation: AAI19808.1 BC137519 mRNA Translation: AAI37520.1 |
CCDSi | CCDS11254.2 [A4FU69-1] CCDS54103.1 [A4FU69-5] |
RefSeqi | NP_001138525.1, NM_001145053.1 [A4FU69-5] NP_940931.2, NM_198529.3 [A4FU69-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 131921, 6 interactors |
IntActi | A4FU69, 3 interactors |
MINTi | A4FU69 |
STRINGi | 9606.ENSP00000378312 |
PTM databases
iPTMneti | A4FU69 |
PhosphoSitePlusi | A4FU69 |
Genetic variation databases
BioMutai | EFCAB5 |
Proteomic databases
EPDi | A4FU69 |
MassIVEi | A4FU69 |
MaxQBi | A4FU69 |
PaxDbi | A4FU69 |
PeptideAtlasi | A4FU69 |
PRIDEi | A4FU69 |
ProteomicsDBi | 24772 5619 669 [A4FU69-1] 670 [A4FU69-2] 671 [A4FU69-3] 672 [A4FU69-4] |
Protocols and materials databases
Antibodypediai | 15071, 35 antibodies from 14 providers |
DNASUi | 374786 |
Genome annotation databases
Ensembli | ENST00000394835; ENSP00000378312; ENSG00000176927 ENST00000440741; ENSP00000393095; ENSG00000176927 [A4FU69-2] ENST00000536908; ENSP00000440619; ENSG00000176927 [A4FU69-5] |
GeneIDi | 374786 |
KEGGi | hsa:374786 |
MANE-Selecti | ENST00000394835.8; ENSP00000378312.3; NM_198529.4; NP_940931.3 |
UCSCi | uc002het.3, human [A4FU69-1] |
Organism-specific databases
CTDi | 374786 |
DisGeNETi | 374786 |
GeneCardsi | EFCAB5 |
HGNCi | HGNC:24801, EFCAB5 |
HPAi | ENSG00000176927, Tissue enriched (testis) |
neXtProti | NX_A4FU69 |
OpenTargetsi | ENSG00000176927 |
PharmGKBi | PA145008457 |
VEuPathDBi | HostDB:ENSG00000176927 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502R5M0, Eukaryota |
GeneTreei | ENSGT00940000154049 |
HOGENOMi | CLU_006376_0_0_1 |
InParanoidi | A4FU69 |
OMAi | IELLYHW |
OrthoDBi | 1482025at2759 |
PhylomeDBi | A4FU69 |
TreeFami | TF329659 |
Enzyme and pathway databases
PathwayCommonsi | A4FU69 |
SignaLinki | A4FU69 |
Miscellaneous databases
BioGRID-ORCSi | 374786, 8 hits in 1034 CRISPR screens |
ChiTaRSi | EFCAB5, human |
GenomeRNAii | 374786 |
Pharosi | A4FU69, Tdark |
PROi | PR:A4FU69 |
RNActi | A4FU69, protein |
Gene expression databases
Bgeei | ENSG00000176927, Expressed in testis and 118 other tissues |
ExpressionAtlasi | A4FU69, baseline and differential |
Genevisiblei | A4FU69, HS |
Family and domain databases
Gene3Di | 3.30.450.40, 1 hit |
InterProi | View protein in InterPro IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR029016, GAF-like_dom_sf |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 1 hit PS50222, EF_HAND_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | EFCB5_HUMAN | |
Accessioni | A4FU69Primary (citable) accession number: A4FU69 Secondary accession number(s): B2RPN0 Q8NDG9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | October 31, 2012 | |
Last modified: | February 23, 2022 | |
This is version 114 of the entry and version 3 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 17
Human chromosome 17: 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