ID EFHB_HUMAN Reviewed; 831 AA. AC Q8N7U6; Q6ZWK9; Q8IV58; Q96LQ6; DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot. DT 03-OCT-2006, sequence version 2. DT 15-MAY-2007, entry version 21. DE 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), AND VARIANT RP VAL-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 MRNA] (ISOFORM 1), AND VARIANT RP 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; BAC05131.1; -; mRNA. DR EMBL; AK122616; BAC85491.1; -; mRNA. DR EMBL; BC028198; AAH28198.1; ALT_INIT; mRNA. DR UniGene; Hs.670883; -. DR HSSP; P07463; 1N0Y. DR Ensembl; ENSG00000163576; Homo sapiens. DR HGNC; HGNC:26330; EFHB. DR InterPro; IPR011992; EF-Hand_type. 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. KW Alternative splicing; Calcium; Polymorphism; 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 INYLEFANFLNCKDKM -> 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 329 329 I -> V (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 CONFLICT 274 274 T -> S (in Ref. 1; BAC85491). FT CONFLICT 490 490 R -> Q (in Ref. 1; BAC85491 and 2; FT AAH28198). FT CONFLICT 626 626 C -> W (in Ref. 2; AAH28198). FT CONFLICT 683 683 W -> R (in Ref. 1; BAB71614 and 2; FT AAH28198). FT CONFLICT 735 735 T -> I (in Ref. 1; BAB71614 and 2; FT AAH28198). SQ SEQUENCE 831 AA; 93534 MW; 346CA12056CB890A 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 HGIRSKISIL ANTLINPQPI TTFQQKIKDK KESIYLSNRR APLGKSHDQA PGLPKGMDTT NTTFGTAVIK EYSAKDVVNP PKSYEEVFKE GNEGHDLYVV SHNDYYAGEA KNRKYNPSSF HRCSVYGVPT PHFNDGRAMA KSLYWLHELQ MKRGAKFVSK RADDFKEKFR HKLGRVLDPI AETMNVPPDC TFGACLRPEE YGVGDLIHNR LPDEYLRGKD RQRALIAAVR HHLKKVNYQK FDTLLAAFRH YDKKGDGMID KDELQEACDQ ANLSLDDKLL DQLFDYCDVD NDGFINYLEF ANFLNCKDKM LLKEYEERVI IKGRKPDCVN PTEANVEEPE QTLLIKPEDI VLKEAGSTEK TLWTLLRPSD KVSNYYKTTS SEINAIVGAI PSTCYPICGV PTIRSDIPAP RIRRTSDRTN YGEEGSAYSL LYPTIFARKG VFERDFFKTR SKEEIAEILC NIGVKLSDEE FENVWNLASK KHHRGEVCVE NIRNVLDELR HADRIKCKTL M //