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Q9BSW2

- EFC4B_HUMAN

UniProt

Q9BSW2 - EFC4B_HUMAN

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Protein
EF-hand calcium-binding domain-containing protein 4B
Gene
EFCAB4B, CRACR2A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Ca2+-binding protein that plays a key role in store-operated Ca2+ entry (SOCE) in T-cells by regulating CRAC channel activation. Acts as a cytoplasmic calcium-sensor that facilitates the clustering of ORAI1 and STIM1 at the junctional regions between the plasma membrane and the endoplasmic reticulum upon low Ca2+ concentration. It thereby regulates CRAC channel activation, including translocation and clustering of ORAI1 and STIM1. Upon increase of cytoplasmic Ca2+ resulting from opening of CRAC channels, dissociates from ORAI1 and STIM1, thereby destabilizing the ORAI1-STIM1 complex.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi97 – 108121 Publication
Add
BLAST

GO - Molecular functioni

  1. calcium ion binding Source: UniProtKB
  2. protein binding Source: UniProtKB

GO - Biological processi

  1. activation of store-operated calcium channel activity Source: UniProtKB
  2. immune system process Source: UniProtKB-KW
  3. positive regulation of calcium ion transport Source: UniProtKB
  4. store-operated calcium entry Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Adaptive immunity, Calcium transport, Immunity, Ion transport, Transport

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand calcium-binding domain-containing protein 4B
Alternative name(s):
Calcium release-activated calcium channel regulator 2A
Short name:
CRAC channel regulator 2A
Gene namesi
Name:EFCAB4B
Synonyms:CRACR2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:28657. EFCAB4B.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. Golgi apparatus Source: HPA
  2. cytoplasm Source: UniProtKB
  3. nucleolus Source: HPA
  4. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi97 – 993DAD → AAA in EF2MUT; enhanced STIM1 clustering and elevated cytoplasmic Ca2+, thereby causing cell death in T-cells. 1 Publication

Organism-specific databases

PharmGKBiPA144596438.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 395395EF-hand calcium-binding domain-containing protein 4B
PRO_0000283046Add
BLAST

Proteomic databases

MaxQBiQ9BSW2.
PaxDbiQ9BSW2.
PRIDEiQ9BSW2.

PTM databases

PhosphoSiteiQ9BSW2.

Expressioni

Gene expression databases

ArrayExpressiQ9BSW2.
BgeeiQ9BSW2.
CleanExiHS_EFCAB4B.
GenevestigatoriQ9BSW2.

Organism-specific databases

HPAiHPA038686.

Interactioni

Subunit structurei

Interacts with ORAI1 and STIM1; the interaction is direct and takes place in absence of Ca2+. Forms a complex with ORAI1 and STIM1 at low concentration of Ca2+, the complex dissociates at elevated Ca2+ concentrations. Interacts with ORAI2 and ORAI3.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Hoxa1P090223EBI-739773,EBI-3957603From a different organism.
ORAI1Q96D316EBI-739773,EBI-2291476
STIM1Q135863EBI-739773,EBI-448878

Protein-protein interaction databases

BioGridi124247. 4 interactions.
IntActiQ9BSW2. 7 interactions.
MINTiMINT-1455075.
STRINGi9606.ENSP00000409382.

Structurei

3D structure databases

ProteinModelPortaliQ9BSW2.
SMRiQ9BSW2. Positions 55-116.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini54 – 8229EF-hand 1
Add
BLAST
Domaini84 – 11936EF-hand 2
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili201 – 373173 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the EFCAB4 family.
Contains 2 EF-hand domains.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiCOG1100.
HOGENOMiHOG000112335.
HOVERGENiHBG107143.
InParanoidiQ9BSW2.
KOiK17199.
OMAiEQPLSKC.
OrthoDBiEOG7NW68N.
PhylomeDBiQ9BSW2.
TreeFamiTF329556.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BSW2-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAAPDGRVVS RPQRLGQGSG QGPKGSGACL HPLDSLEQKE TQEQTSGQLV    50
MLRKAQEFFQ TCDAEGKGFI ARKDMQRLHK ELPLSLEELE DVFDALDADG 100
NGYLTPQEFT TGFSHFFFSQ NNPSQEDAGE QVAQRHEEKV YLSRGDEDLG 150
DMGEDEEAQF RMLMDRLGAQ KVLEDESDVK QLWLQLKKEE PHLLSNFEDF 200
LTRIISQLQE AHEEKNELEC ALKRKIAAYD EEIQHLYEEM EQQIKSEKEQ 250
FLLKDTERFQ ARSQELEQKL LCKEQELEQL TQKQKRLEGQ CTALHHDKHE 300
TKAENTKLKL TNQELARELE RTSWELQDAQ QQLESLQQEA CKLHQEKEME 350
VYRVTESLQR EKAGLLKQLD FLRCVGGHWP VLRAPPRSLG SEGPV 395
Length:395
Mass (Da):45,592
Last modified:June 1, 2001 - v1
Checksum:i9A69FA0D8B769860
GO
Isoform 2 (identifier: Q9BSW2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     374-395: CVGGHWPVLRAPPRSLGSEGPV → ERNKHLRDER...HPAKKKSCCG

Note: No experimental confirmation available.

Show »
Length:731
Mass (Da):83,193
Checksum:iDE746B5B604ACC44
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71R → G.
Corresponds to variant rs9788233 [ dbSNP | Ensembl ].
VAR_031483
Natural varianti98 – 981A → T.
Corresponds to variant rs17836273 [ dbSNP | Ensembl ].
VAR_031484
Natural varianti128 – 1281A → V.1 Publication
Corresponds to variant rs242017 [ dbSNP | Ensembl ].
VAR_031485
Natural varianti136 – 1361H → P.
Corresponds to variant rs34088152 [ dbSNP | Ensembl ].
VAR_031486
Natural varianti154 – 1541E → K.1 Publication
Corresponds to variant rs242018 [ dbSNP | Ensembl ].
VAR_031487
Natural varianti212 – 2121H → Q.
Corresponds to variant rs36030417 [ dbSNP | Ensembl ].
VAR_031488

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei374 – 39522CVGGH…SEGPV → ERNKHLRDERDICFQKNKAA KANTAASRASWKKRSGSVIG KYVDSRGILRSQSEEEEEVF GIPRRSSLGLSGYPLTEEEP GTGEPGPGGPYPRPLRRIIS VEEDPLPQLLDGGFEQPLSK CSEEEEVSDQGVQGQIPEAP PLKLTPTSPRGQPVGKEALC KEESSPSAPDRLFKIVFVGN SAVGKTSFLRRFCEDRFSPG MAATVGIDYRVKTLNVDNSQ VALQLWDTAGQERYRCITQQ FFRKADGVIVMYDLTDKQSF LSVRRWLSSVEEAVGDRVPV LLLGNKLDNEKEREVPRGLG EQLATENNLIFYECSAYSGH NTKESLLHLARFLKEQEDTV REDTIQVGHPAKKKSCCG in isoform 2.
VSP_039546Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK304017 mRNA. Translation: BAG64932.1.
AC005831 Genomic DNA. No translation available.
AC006207 Genomic DNA. No translation available.
BC004524 mRNA. Translation: AAH04524.1.
BC150643 mRNA. Translation: AAI50644.1.
CCDSiCCDS44803.1. [Q9BSW2-2]
CCDS8522.1. [Q9BSW2-1]
RefSeqiNP_001138430.1. NM_001144958.1. [Q9BSW2-2]
NP_116069.1. NM_032680.3. [Q9BSW2-1]
UniGeneiHs.504534.

Genome annotation databases

EnsembliENST00000252322; ENSP00000252322; ENSG00000130038. [Q9BSW2-1]
ENST00000440314; ENSP00000409382; ENSG00000130038. [Q9BSW2-2]
GeneIDi84766.
KEGGihsa:84766.
UCSCiuc001qmj.2. human. [Q9BSW2-1]
uc010sen.1. human. [Q9BSW2-2]

Polymorphism databases

DMDMi74761240.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK304017 mRNA. Translation: BAG64932.1 .
AC005831 Genomic DNA. No translation available.
AC006207 Genomic DNA. No translation available.
BC004524 mRNA. Translation: AAH04524.1 .
BC150643 mRNA. Translation: AAI50644.1 .
CCDSi CCDS44803.1. [Q9BSW2-2 ]
CCDS8522.1. [Q9BSW2-1 ]
RefSeqi NP_001138430.1. NM_001144958.1. [Q9BSW2-2 ]
NP_116069.1. NM_032680.3. [Q9BSW2-1 ]
UniGenei Hs.504534.

3D structure databases

ProteinModelPortali Q9BSW2.
SMRi Q9BSW2. Positions 55-116.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124247. 4 interactions.
IntActi Q9BSW2. 7 interactions.
MINTi MINT-1455075.
STRINGi 9606.ENSP00000409382.

PTM databases

PhosphoSitei Q9BSW2.

Polymorphism databases

DMDMi 74761240.

Proteomic databases

MaxQBi Q9BSW2.
PaxDbi Q9BSW2.
PRIDEi Q9BSW2.

Protocols and materials databases

DNASUi 84766.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252322 ; ENSP00000252322 ; ENSG00000130038 . [Q9BSW2-1 ]
ENST00000440314 ; ENSP00000409382 ; ENSG00000130038 . [Q9BSW2-2 ]
GeneIDi 84766.
KEGGi hsa:84766.
UCSCi uc001qmj.2. human. [Q9BSW2-1 ]
uc010sen.1. human. [Q9BSW2-2 ]

Organism-specific databases

CTDi 84766.
GeneCardsi GC12M003725.
HGNCi HGNC:28657. EFCAB4B.
HPAi HPA038686.
MIMi 614178. gene.
neXtProti NX_Q9BSW2.
PharmGKBi PA144596438.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1100.
HOGENOMi HOG000112335.
HOVERGENi HBG107143.
InParanoidi Q9BSW2.
KOi K17199.
OMAi EQPLSKC.
OrthoDBi EOG7NW68N.
PhylomeDBi Q9BSW2.
TreeFami TF329556.

Miscellaneous databases

GenomeRNAii 84766.
NextBioi 74911.
PROi Q9BSW2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BSW2.
Bgeei Q9BSW2.
CleanExi HS_EFCAB4B.
Genevestigatori Q9BSW2.

Family and domain databases

Gene3Di 1.10.238.10. 1 hit.
InterProi IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view ]
SMARTi SM00054. EFh. 2 hits.
[Graphical view ]
PROSITEi PS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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 2).
    Tissue: Trachea.
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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), VARIANTS VAL-128 AND LYS-154.
    Tissue: Brain and Muscle.
  4. "A novel EF-hand protein, CRACR2A, is a cytosolic Ca2+ sensor that stabilizes CRAC channels in T cells."
    Srikanth S., Jung H.J., Kim K.D., Souda P., Whitelegge J., Gwack Y.
    Nat. Cell Biol. 12:436-446(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, CALCIUM-BINDING, INTERACTION WITH ORAI1; ORAI2; ORAI3 AND STIM1, MUTAGENESIS OF 97-ASP--ASP-99.

Entry informationi

Entry nameiEFC4B_HUMAN
AccessioniPrimary (citable) accession number: Q9BSW2
Secondary accession number(s): B4E1X0, B9EK63
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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