ID EFHB_HUMAN Reviewed; 831 AA. AC Q8N7U6; A6ND25; Q6ZWK9; Q8IV58; Q96LQ6; DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot. DT 28-JUL-2009, sequence version 3. DT 22-SEP-2009, entry version 37. DE RecName: Full=EF-hand domain-containing family member B; GN Name=EFHB; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE RP SEQUENCE [LARGE SCALE MRNA] OF 596-831 (ISOFORM 1), AND VARIANT RP ILE-329. RC TISSUE=Kidney proximal tubule, Lung, and Testis; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16641997; DOI=10.1038/nature04728; RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., RA Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., RA Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., RA Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., RA Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., RA Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., RA Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., RA Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., RA Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., RA Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., RA Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., RA Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., RA Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., RA Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., RA Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., RA Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., RA Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., RA Gibbs R.A.; RT "The DNA sequence, annotation and analysis of human chromosome 3."; RL Nature 440:1194-1198(2006). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS RP ILE-329 AND ILE-380. RC TISSUE=Lung; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q8N7U6-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8N7U6-2; Sequence=VSP_020864, VSP_020865; CC Note=No experimental confirmation available; CC Name=3; CC IsoId=Q8N7U6-3; Sequence=VSP_020862, VSP_020863; CC Note=No experimental confirmation available; CC -!- SIMILARITY: Contains 2 EF-hand domains. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK057929; BAB71614.1; ALT_INIT; mRNA. DR EMBL; AK097644; -; NOT_ANNOTATED_CDS; mRNA. DR EMBL; AK122616; BAC85491.1; -; mRNA. DR EMBL; AC104182; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471055; EAW64300.1; ALT_INIT; Genomic_DNA. DR EMBL; BC028198; AAH28198.1; ALT_INIT; mRNA. DR IPI; IPI00743497; -. DR IPI; IPI00783995; -. DR IPI; IPI00786910; -. DR RefSeq; NP_653316.3; -. DR UniGene; Hs.670883; -. DR HSSP; P07463; 1N0Y. DR PRIDE; Q8N7U6; -. DR Ensembl; ENST00000295824; ENSP00000295824; ENSG00000163576; Homo sapiens. DR Ensembl; ENST00000344838; ENSP00000342263; ENSG00000163576; Homo sapiens. DR Ensembl; ENST00000389256; ENSP00000373908; ENSG00000163576; Homo sapiens. DR Ensembl; ENST00000396724; ENSP00000379950; ENSG00000163576; Homo sapiens. DR GeneID; 151651; -. DR KEGG; hsa:151651; -. DR GeneCards; GC03M019896; -. DR HGNC; HGNC:26330; EFHB. DR PharmGKB; PA134987079; -. DR HOVERGEN; Q8N7U6; -. DR NextBio; 86773; -. DR ArrayExpress; Q8N7U6; -. DR Bgee; Q8N7U6; -. DR CleanEx; HS_EFHB; -. DR GO; GO:0005509; F:calcium ion binding; IEA:UniProtKB-KW. DR InterPro; IPR011992; EF-Hand_type. DR InterPro; IPR018248; EF_hand. DR InterPro; IPR018247; EF_HAND_1_Ca_BS. DR InterPro; IPR018249; EF_HAND_2. DR InterPro; IPR002048; EF_hand_Ca_bd. DR Gene3D; G3DSA:1.10.238.10; EF-Hand_type; 1. DR Pfam; PF00036; efhand; 2. DR ProDom; PD000012; EF-hand; 1. DR SMART; SM00054; EFh; 2. DR PROSITE; PS00018; EF_HAND_1; 1. DR PROSITE; PS50222; EF_HAND_2; 2. PE 2: Evidence at transcript level; KW Alternative splicing; Calcium; Complete proteome; Polymorphism; KW Repeat. FT CHAIN 1 831 EF-hand domain-containing family member FT B. FT /FTId=PRO_0000252094. FT DOMAIN 559 594 EF-hand 1. FT DOMAIN 595 630 EF-hand 2. FT CA_BIND 570 580 1 (Potential). FT CA_BIND 608 619 2 (Potential). FT VAR_SEQ 1 128 Missing (in isoform 3). FT /FTId=VSP_020862. FT VAR_SEQ 129 182 GRVCGSSQAAGSRRAPLASGPEGVEELVGKPAFVMEPRQEM FT EKESTCVLMKPNT -> MMAHCRIDLLGSSDPPTSASQIAE FT TTDVSHHAGLIEFLALSNSSALASRSVEIT (in FT isoform 3). FT /FTId=VSP_020863. FT VAR_SEQ 574 630 KGDGMIDKDELQEACDQANLSLDDKLLDQLFDYCDVDNDGF FT INYLEFANFLNWKDKM -> AGVQWRDLGSLQPPPPRFKRF FT SCLSLPSSWDYRHLPPHPNFRIFSRDGVSPCWPGWS (in FT isoform 2). FT /FTId=VSP_020864. FT VAR_SEQ 631 831 Missing (in isoform 2). FT /FTId=VSP_020865. FT VARIANT 97 97 G -> V (in dbSNP:rs17795400). FT /FTId=VAR_055296. FT VARIANT 267 267 P -> S (in dbSNP:rs13078867). FT /FTId=VAR_055297. FT VARIANT 329 329 V -> I (in dbSNP:rs2931403). FT /FTId=VAR_027750. FT VARIANT 380 380 T -> I (in dbSNP:rs2929366). FT /FTId=VAR_027751. FT VARIANT 661 661 Q -> P (in dbSNP:rs9868950). FT /FTId=VAR_027752. FT VARIANT 824 824 R -> W (in dbSNP:rs11917204). FT /FTId=VAR_055298. FT CONFLICT 274 274 T -> S (in Ref. 1; BAC85491). FT CONFLICT 626 626 W -> C (in Ref. 1; BAC85491). FT CONFLICT 683 683 R -> W (in Ref. 1; BAC85491). FT CONFLICT 735 735 I -> T (in Ref. 1; BAC85491). SQ SEQUENCE 831 AA; 93557 MW; 1CB562C226009CF3 CRC64; MEIGHPHEGK DDLGDKRVIM GTKFPMELGI RVGLGKEDSR CGESPVVSNK CEGRMAPPET KFPLSKGLEM GLERQNISRT VMQRGSLGVD SVSASQGTKP SLLPGRMGLE NESLLAGYTH ERIIQPPLGR VCGSSQAAGS RRAPLASGPE GVEELVGKPA FVMEPRQEME KESTCVLMKP NTEIKLPVEV DIGLTQAEGP DETKNTEPQM GLVIEPPQCQ FAQQHEQRKE AGNIESGVEP PDRIRPIYSG KFFDRTPCWP SAGKVIPVGY RVATCLTEKL PRLITPPEAK KYFNFRYPPA GVERVFYGRA NDPQIAPYLT HGIRSKISVL ANTLINPQPI TTFQQKIKDK KESIYLSNRR APLGKSHDQA PGLPKGMDTT NTTFGTAVIK EYSAKDVVNP PKSYEEVFKE GNEGHDLYVV SHNDYYAGEA KNRKYNPSSF HRCSVYGVPT PHFNDGRAMA KSLYWLHELQ MKRGAKFVSK RADDFKEKFQ HKLGRVLDPI AETMNVPPDC TFGACLRPEE YGVGDLIHNR LPDEYLRGKD RQRALIAAVR HHLKKVNYQK FDTLLAAFRH YDKKGDGMID KDELQEACDQ ANLSLDDKLL DQLFDYCDVD NDGFINYLEF ANFLNWKDKM LLKEYEERVI IKGRKPDCVN PTEANVEEPE QTLLIKPEDI VLKEAGSTEK TLRTLLRPSD KVSNYYKTTS SEINAIVGAI PSTCYPICGV PTIRSDIPAP RIRRISDRTN YGEEGSAYSL LYPTIFARKG VFERDFFKTR SKEEIAEILC NIGVKLSDEE FENVWNLASK KHHRGEVCVE NIRNVLDELR HADRIKCKTL M //