ID EFHB_HUMAN Reviewed; 833 AA. AC Q8N7U6; A6ND25; A8MPR3; Q6ZWK9; Q8IV58; Q96LQ6; DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot. DT 30-NOV-2010, sequence version 4. DT 16-OCT-2013, entry version 71. 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 598-833 (ISOFORM 1), AND VARIANT RP ILE-331. 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-331 AND ILE-382. 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 -!- SEQUENCE CAUTION: CC Sequence=AAH28198.1; Type=Erroneous initiation; Note=Translation N-terminally extended; CC Sequence=BAB71614.1; Type=Erroneous initiation; Note=Translation N-terminally extended; 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; -; Genomic_DNA. DR EMBL; BC028198; AAH28198.1; ALT_INIT; mRNA. DR IPI; IPI00743497; -. DR IPI; IPI00783995; -. DR IPI; IPI00786910; -. DR RefSeq; NP_653316.3; NM_144715.3. DR UniGene; Hs.733920; -. DR ProteinModelPortal; Q8N7U6; -. DR SMR; Q8N7U6; 563-626. DR STRING; 9606.ENSP00000295824; -. DR PhosphoSite; Q8N7U6; -. DR DMDM; 254763420; -. DR PaxDb; Q8N7U6; -. DR PRIDE; Q8N7U6; -. DR Ensembl; ENST00000295824; ENSP00000295824; ENSG00000163576. DR Ensembl; ENST00000344838; ENSP00000342263; ENSG00000163576. DR GeneID; 151651; -. DR KEGG; hsa:151651; -. DR UCSC; uc003cbl.4; human. DR CTD; 151651; -. DR GeneCards; GC03M019896; -. DR HGNC; HGNC:26330; EFHB. DR HPA; HPA034834; -. DR neXtProt; NX_Q8N7U6; -. DR PharmGKB; PA134987079; -. DR eggNOG; NOG79992; -. DR HOGENOM; HOG000236296; -. DR HOVERGEN; HBG065756; -. DR InParanoid; Q8N7U6; -. DR OMA; CWPSAGK; -. DR OrthoDB; EOG4K0QMW; -. DR GenomeRNAi; 151651; -. DR NextBio; 86773; -. DR PRO; PR:Q8N7U6; -. DR ArrayExpress; Q8N7U6; -. DR Bgee; Q8N7U6; -. DR CleanEx; HS_EFHB; -. DR Genevestigator; Q8N7U6; -. DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro. DR Gene3D; 1.10.238.10; -; 1. DR InterPro; IPR011992; EF-hand-dom_pair. DR InterPro; IPR018247; EF_Hand_1_Ca_BS. DR InterPro; IPR002048; EF_hand_dom. DR Pfam; PF13499; EF-hand_7; 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; Metal-binding; KW Polymorphism; Reference proteome; Repeat. FT CHAIN 1 833 EF-hand domain-containing family member FT B. FT /FTId=PRO_0000252094. FT DOMAIN 561 596 EF-hand 1. FT DOMAIN 597 632 EF-hand 2. FT CA_BIND 572 582 1 (Potential). FT CA_BIND 610 621 2 (Potential). FT VAR_SEQ 1 130 Missing (in isoform 3). FT /FTId=VSP_020862. FT VAR_SEQ 131 183 GRVCGSSQAAGSRRAPLASGPEGVEELVGKPAFVMEPRQEM FT EKESTCVLMKPN -> MMAHCRIDLLGSSDPPTSASQIAET FT TDVSHHAGLIEFLALSNSSALASRSVEI (in isoform FT 3). FT /FTId=VSP_020863. FT VAR_SEQ 576 632 KGDGMIDKDELQEACDQANLSLDDKLLDQLFDYCDVDNDGF FT INYLEFANFLNWKDKM -> AGVQWRDLGSLQPPPPRFKRF FT SCLSLPSSWDYRHLPPHPNFRIFSRDGVSPCWPGWS (in FT isoform 2). FT /FTId=VSP_020864. FT VAR_SEQ 633 833 Missing (in isoform 2). FT /FTId=VSP_020865. FT VARIANT 99 99 G -> V (in dbSNP:rs17795400). FT /FTId=VAR_055296. FT VARIANT 269 269 P -> S (in dbSNP:rs13078867). FT /FTId=VAR_055297. FT VARIANT 331 331 V -> I (in dbSNP:rs2931403). FT /FTId=VAR_027750. FT VARIANT 382 382 T -> I (in dbSNP:rs2929366). FT /FTId=VAR_027751. FT VARIANT 663 663 Q -> P (in dbSNP:rs9868950). FT /FTId=VAR_027752. FT VARIANT 826 826 R -> W (in dbSNP:rs11917204). FT /FTId=VAR_055298. FT CONFLICT 1 1 M -> V (in Ref. 1; AK097644). FT CONFLICT 276 276 T -> S (in Ref. 1; BAC85491). FT CONFLICT 492 492 Q -> R (in Ref. 1; AK097644). FT CONFLICT 628 628 W -> C (in Ref. 1; BAC85491). FT CONFLICT 685 685 R -> W (in Ref. 1; BAC85491). FT CONFLICT 737 737 I -> T (in Ref. 1; BAC85491). SQ SEQUENCE 833 AA; 93802 MW; 52764E07C4767F15 CRC64; MNMEIGHPHE GKDDLGDKRV IMGTKFPMEL GIRVGLGKED SRCGESPVVS NKCEGRMAPP ETKFPLSKGL EMGLERQNIS RTVMQRGSLG VDSVSASQGT KPSLLPGRMG LENESLLAGY THERIIQPPL GRVCGSSQAA GSRRAPLASG PEGVEELVGK PAFVMEPRQE MEKESTCVLM KPNTEIKLPV EVDIGLTQAE GPDETKNTEP QMGLVIEPPQ CQFAQQHEQR KEAGNIESGV EPPDRIRPIY SGKFFDRTPC WPSAGKVIPV GYRVATCLTE KLPRLITPPE AKKYFNFRYP PAGVERVFYG RANDPQIAPY LTHGIRSKIS VLANTLINPQ PITTFQQKIK DKKESIYLSN RRAPLGKSHD QAPGLPKGMD TTNTTFGTAV IKEYSAKDVV NPPKSYEEVF KEGNEGHDLY VVSHNDYYAG EAKNRKYNPS SFHRCSVYGV PTPHFNDGRA MAKSLYWLHE LQMKRGAKFV SKRADDFKEK FQHKLGRVLD PIAETMNVPP DCTFGACLRP EEYGVGDLIH NRLPDEYLRG KDRQRALIAA VRHHLKKVNY QKFDTLLAAF RHYDKKGDGM IDKDELQEAC DQANLSLDDK LLDQLFDYCD VDNDGFINYL EFANFLNWKD KMLLKEYEER VIIKGRKPDC VNPTEANVEE PEQTLLIKPE DIVLKEAGST EKTLRTLLRP SDKVSNYYKT TSSEINAIVG AIPSTCYPIC GVPTIRSDIP APRIRRISDR TNYGEEGSAY SLLYPTIFAR KGVFERDFFK TRSKEEIAEI LCNIGVKLSD EEFENVWNLA SKKHHRGEVC VENIRNVLDE LRHADRIKCK TLM //