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A4FU69 (EFCB5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 59. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
EF-hand calcium-binding domain-containing protein 5
Gene names
Name:EFCAB5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1503 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Contains 1 EF-hand domain.

Sequence caution

The sequence BAC87284.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandCalcium
Metal-binding
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A4FU69-1)

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: A4FU69-2)

The sequence of this isoform differs from the canonical sequence as follows:
     913-926: AKLHIQFPKPHPGH → GLTLSPGWSAVAQL
     927-1503: Missing.
Isoform 3 (identifier: A4FU69-3)

The sequence of this isoform differs from the canonical sequence as follows:
     789-912: Missing.
Isoform 4 (identifier: A4FU69-4)

The sequence of this isoform differs from the canonical sequence as follows:
     913-1440: Missing.
Isoform 5 (identifier: A4FU69-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
     861-912: FSQNAFQVRQ...EGMEKESMKK → VSLCRQAGVQ...KFFPLETKFP
     913-1503: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15031503EF-hand calcium-binding domain-containing protein 5
PRO_0000315836

Regions

Domain869 – 90436EF-hand
Calcium binding882 – 89312 Potential

Amino acid modifications

Modified residue771Phosphoserine Ref.5

Natural variations

Alternative sequence1 – 5656Missing in isoform 5.
VSP_047184
Alternative sequence789 – 912124Missing in isoform 3.
VSP_030732
Alternative sequence861 – 91252FSQNA…ESMKK → VSLCRQAGVQWRNCSSLQPP TPGLKRSSHHRLLSNWDYRE RRKFFPLETKFP in isoform 5.
VSP_047185
Alternative sequence913 – 1503591Missing in isoform 5.
VSP_047186
Alternative sequence913 – 1440528Missing in isoform 4.
VSP_030733
Alternative sequence913 – 92614AKLHI…PHPGH → GLTLSPGWSAVAQL in isoform 2.
VSP_030734
Alternative sequence927 – 1503577Missing in isoform 2.
VSP_030735
Natural variant2371L → V. Ref.1
Corresponds to variant rs9897794 [ dbSNP | Ensembl ].
VAR_038343
Natural variant2781I → K. Ref.1 Ref.2 Ref.4
Corresponds to variant rs4795524 [ dbSNP | Ensembl ].
VAR_038344
Natural variant5611R → S.
Corresponds to variant rs9900546 [ dbSNP | Ensembl ].
VAR_038345
Natural variant11451A → D.
Corresponds to variant rs9894896 [ dbSNP | Ensembl ].
VAR_048644
Natural variant12521V → A.
Corresponds to variant rs4499292 [ dbSNP | Ensembl ].
VAR_048645
Natural variant12741R → T.
Corresponds to variant rs35724168 [ dbSNP | Ensembl ].
VAR_048646
Natural variant14881D → Y.
Corresponds to variant rs5024269 [ dbSNP | Ensembl ].
VAR_048647

Experimental info

Sequence conflict3241L → P in BX648689. Ref.1
Sequence conflict3741D → E in BX648689. Ref.1
Sequence conflict4291R → Q in BAC87284. Ref.4
Sequence conflict9621M → I in BAC87284. Ref.4
Sequence conflict13861V → G in CAD38767. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 31, 2012. Version 3.
Checksum: 907EED07E7C17EB7

FASTA1,503173,404
        10         20         30         40         50         60 
MNESASQEEL RPAQENRKED KERKWNLTEV KELHETLQSV PDVPVKEDTN SVVEKAMDEI 

        70         80         90        100        110        120 
KSQELNLEGQ RKISPGSIKD SKTEASGNIA IRKSAKVIFA LDETELKSKP EHTWKKNLFE 

       130        140        150        160        170        180 
RMEARAQAMQ QKIIDKENLK KELEKKAEKK LPRDNLAKEW FNTDSMTLNN TAYLLDKLLP 

       190        200        210        220        230        240 
TLVPGVENML TQVEKKKVLT EADTPSKFDP INYLGEYLIR NNPNYIKDPG MSGYQRLMKE 

       250        260        270        280        290        300 
VTEDLKIYVP DTICNRVSKM KENVKQNRKQ RESIDKIIVK VANTRKQALQ EQFDEWILDP 

       310        320        330        340        350        360 
KGMIPKSVIQ NVLQEFFQNP DFKLGSHCKQ LDITDSTEPR LNKMEFTEYI SSHIKDLKSE 

       370        380        390        400        410        420 
MFEELLKHLC HSADEFREVI KADMRRQMFA ELFLHCDHGK VGFLDRQRTL ALLELFYDHS 

       430        440        450        460        470        480 
SQMLRSLLRN PRQWPFIEFE EINLTELWGD MDNQKHIYEG FDKVLLEMNT LLSANHASKT 

       490        500        510        520        530        540 
QSKLLESPDQ PKLNEQRTST PSPNPPEQQR GVTAEQGPQR ISIEEQQQGK KPTAEQELYI 

       550        560        570        580        590        600 
ESVIEPGTHT ESTLEQGSSR RLLTEQETHR ESTTEQGQHK GSIEGQGPRR VSVSEQGSSR 

       610        620        630        640        650        660 
ESVAEQGSRR ESIAEQDRHK GSVAEQGSRR MSAAEQGSLR ESVIEEPYQK SEQGPYGEII 

       670        680        690        700        710        720 
SEEQEDIGST SQSRKDSILK STKYGEPITS EYIEVPLQEK RSWEQTYEEE IFLSSELQEE 

       730        740        750        760        770        780 
VPTLSRKDHF PETTKKEVQK DKPCEPKSQK IEGKSWSGEF FTCNWKMKYV TFEDEEQANL 

       790        800        810        820        830        840 
IYGNSRFTDL HSIIRNIQSC KEVKGRTAFN GVSFNLLQFV QLLETFVGED APLSVSETLT 

       850        860        870        880        890        900 
SFFKEGYVET EQEKMNALEQ FSQNAFQVRQ RLLLEAIFQK WDSDGSGFLD LKEVDELLYT 

       910        920        930        940        950        960 
YKEGMEKESM KKAKLHIQFP KPHPGHEVRL SSKQFQNYIE LVVSELRGNE DQVLESVVEF 

       970        980        990       1000       1010       1020 
LMNALERSHI ESLRNSARRK WLHQIQCAAE TSGVSLEPVY SETFKALMQD AEAHGNKKIS 

      1030       1040       1050       1060       1070       1080 
AHISLLEENL LLPEKGNVLL RNVACTLDDA QFVLNRVLYR DMKGISFTVV DEGKPIHVPQ 

      1090       1100       1110       1120       1130       1140 
VQYHGNIFFW NQSRNKHDYN GSFLALPLQD AYMRIFGVLA VDTLRDPHEI NIFLPHEIRF 

      1150       1160       1170       1180       1190       1200 
YQGVANVFST AYHYVHSREH ILHIVITGIG WLYDVTSSIT SITTYFVEPS PAQDSDYVLR 

      1210       1220       1230       1240       1250       1260 
NMMVTGQLGL TEIHKNPPTI HRKSCIFRDF LFKCTDSSEV VLASACGETH IVVPLRERTG 

      1270       1280       1290       1300       1310       1320 
EALGVLDFNI GQNRMLLCQE YKDLQKMMKV VQVACYEILG EFSGEIKKKY ILEIENVREV 

      1330       1340       1350       1360       1370       1380 
QRAGILFFRI MLLELQESIQ LLNSMEFVSL LLYDHTLVTE PNSPQDSKSM ELEANVKLVR 

      1390       1400       1410       1420       1430       1440 
DILKAVILFF HPELEFSSDF GSWDKCKFYV NKYLVNNICA FDPTAKHVEV NVQLIDEYIR 

      1450       1460       1470       1480       1490       1500 
DHSRTEVWKF GNVVIEHLYH WIHICSALMK ITKQLNSGIT PPLPSKTDNY MYAKMPGEGL 


QEK 

« Hide

Isoform 2 [UniParc].

Checksum: D0DEE537B4107202
Show »

FASTA926106,855
Isoform 3 [UniParc].

Checksum: 850C9B1375349299
Show »

FASTA1,379159,092
Isoform 4 [UniParc].

Checksum: B5845D5FA67F2A4D
Show »

FASTA975112,739
Isoform 5 [UniParc].

Checksum: 5D6CC2569FB167D7
Show »

FASTA85698,992

References

[1]"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 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 195-1503 (ISOFORM 3), VARIANTS VAL-237 AND LYS-278.
Tissue: Brain and Testis.
[2]"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 2), VARIANT LYS-278.
[3]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-1503 (ISOFORM 4), VARIANT LYS-278.
[5]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-77, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK128126 mRNA. Translation: BAC87284.1. Different initiation.
AK299608 mRNA. Translation: BAG61537.1.
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.
RefSeqNP_001138525.1. NM_001145053.1.
NP_940931.2. NM_198529.3.
UniGeneHs.662411.

3D structure databases

ProteinModelPortalA4FU69.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131921. 1 interaction.
STRING9606.ENSP00000378312.

PTM databases

PhosphoSiteA4FU69.

Proteomic databases

PaxDbA4FU69.
PRIDEA4FU69.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320856; ENSP00000322003; ENSG00000176927. [A4FU69-3]
ENST00000378738; ENSP00000368012; ENSG00000176927. [A4FU69-2]
ENST00000394832; ENSP00000378309; ENSG00000176927. [A4FU69-4]
ENST00000394835; ENSP00000378312; ENSG00000176927. [A4FU69-1]
ENST00000440741; ENSP00000393095; ENSG00000176927. [A4FU69-2]
ENST00000536908; ENSP00000440619; ENSG00000176927. [A4FU69-5]
GeneID374786.
KEGGhsa:374786.
UCSCuc002het.3. human. [A4FU69-1]
uc010cse.3. human. [A4FU69-3]
uc010csf.3. human. [A4FU69-4]

Organism-specific databases

CTD374786.
GeneCardsGC17P028256.
H-InvDBHIX0013680.
HGNCHGNC:24801. EFCAB5.
HPAHPA022852.
HPA028608.
neXtProtNX_A4FU69.
PharmGKBPA145008457.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41426.
HOGENOMHOG000112338.
HOVERGENHBG107836.
InParanoidA4FU69.
OMAHIQFPKP.
OrthoDBEOG7SR4M5.
TreeFamTF329659.

Gene expression databases

ArrayExpressA4FU69.
BgeeA4FU69.
CleanExHS_EFCAB5.
GenevestigatorA4FU69.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR003018. GAF.
[Graphical view]
SMARTSM00065. GAF. 1 hit.
[Graphical view]
PROSITEPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi374786.
NextBio100259.
PROA4FU69.

Entry information

Entry nameEFCB5_HUMAN
AccessionPrimary (citable) accession number: A4FU69
Secondary accession number(s): B2RPN0 expand/collapse secondary AC list , B4DS75, F5GYL2, Q0VD68, Q6ZRM6, Q8NDG9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 31, 2012
Last modified: March 19, 2014
This is version 59 of the entry and version 3 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

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 17

Human chromosome 17: entries, gene names and cross-references to MIM