2025-05-09 20:19:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_144715 2857 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens EF-hand domain family, member B (EFHB), mRNA. ACCESSION NM_144715 VERSION NM_144715.3 GI:148613875 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2857) AUTHORS Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. TITLE Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score JOURNAL Mol. Med. 16 (7-8), 247-253 (2010) PUBMED 20379614 REMARK GeneRIF: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC104182.2, AK097644.1 and BC028198.1. On Jun 6, 2007 this sequence version replaced gi:32526891. ##Evidence-Data-START## Transcript exon combination :: BC028198.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-197 AC104182.2 150267-150463 c 198-1186 AK097644.1 200-1188 1187-1192 AC104182.2 136082-136087 c 1193-1340 BC028198.1 1159-1306 1341-1373 AC104182.2 134481-134513 c 1374-2857 BC028198.1 1340-2823 FEATURES Location/Qualifiers source 1..2857 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3p24.3" gene 1..2857 /gene="EFHB" /note="EF-hand domain family, member B" /db_xref="GeneID:151651" /db_xref="HGNC:26330" exon 1..985 /gene="EFHB" /inference="alignment:Splign:1.39.8" misc_feature 35..37 /gene="EFHB" /note="upstream in-frame stop codon" variation 125 /gene="EFHB" /replace="c" /replace="t" /db_xref="dbSNP:2929349" CDS 197..2698 /gene="EFHB" /codon_start=1 /product="EF-hand domain-containing family member B" /protein_id="NP_653316.3" /db_xref="GI:148613876" /db_xref="CCDS:CCDS33715.2" /db_xref="GeneID:151651" /db_xref="HGNC:26330" /translation="
MNMEIGHPHEGKDDLGDKRVIMGTKFPMELGIRVGLGKEDSRCGESPVVSNKCEGRMAPPETKFPLSKGLEMGLERQNISRTVMQRGSLGVDSVSASQGTKPSLLPGRMGLENESLLAGYTHERIIQPPLGRVCGSSQAAGSRRAPLASGPEGVEELVGKPAFVMEPRQEMEKESTCVLMKPNTEIKLPVEVDIGLTQAEGPDETKNTEPQMGLVIEPPQCQFAQQHEQRKEAGNIESGVEPPDRIRPIYSGKFFDRTPCWPSAGKVIPVGYRVATCLTEKLPRLITPPEAKKYFNFRYPPAGVERVFYGRANDPQIAPYLTHGIRSKISVLANTLINPQPITTFQQKIKDKKESIYLSNRRAPLGKSHDQAPGLPKGMDTTNTTFGTAVIKEYSAKDVVNPPKSYEEVFKEGNEGHDLYVVSHNDYYAGEAKNRKYNPSSFHRCSVYGVPTPHFNDGRAMAKSLYWLHELQMKRGAKFVSKRADDFKEKFQHKLGRVLDPIAETMNVPPDCTFGACLRPEEYGVGDLIHNRLPDEYLRGKDRQRALIAAVRHHLKKVNYQKFDTLLAAFRHYDKKGDGMIDKDELQEACDQANLSLDDKLLDQLFDYCDVDNDGFINYLEFANFLNWKDKMLLKEYEERVIIKGRKPDCVNPTEANVEEPEQTLLIKPEDIVLKEAGSTEKTLRTLLRPSDKVSNYYKTTSSEINAIVGAIPSTCYPICGVPTIRSDIPAPRIRRISDRTNYGEEGSAYSLLYPTIFARKGVFERDFFKTRSKEEIAEILCNIGVKLSDEEFENVWNLASKKHHRGEVCVENIRNVLDELRHADRIKCKTLM
" misc_feature 1892..2074 /gene="EFHB" /note="EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to...; Region: EFh; cd00051" /db_xref="CDD:28933" misc_feature 1907..2074 /gene="EFHB" /note="EF-hand domain pair; Region: EF_hand_5; pfam13499" /db_xref="CDD:205677" misc_feature order(1916..1918,1922..1924,1928..1930,1949..1951, 2024..2026,2030..2032,2036..2038,2057..2059) /gene="EFHB" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:28933" exon 986..1048 /gene="EFHB" /inference="alignment:Splign:1.39.8" exon 1049..1192 /gene="EFHB" /inference="alignment:Splign:1.39.8" variation 1186 /gene="EFHB" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:2929362" exon 1193..1373 /gene="EFHB" /inference="alignment:Splign:1.39.8" variation 1341 /gene="EFHB" /replace="c" /replace="t" /db_xref="dbSNP:2929366" exon 1374..1484 /gene="EFHB" /inference="alignment:Splign:1.39.8" exon 1485..1614 /gene="EFHB" /inference="alignment:Splign:1.39.8" exon 1615..1698 /gene="EFHB" /inference="alignment:Splign:1.39.8" exon 1699..1766 /gene="EFHB" /inference="alignment:Splign:1.39.8" exon 1767..1921 /gene="EFHB" /inference="alignment:Splign:1.39.8" exon 1922..2129 /gene="EFHB" /inference="alignment:Splign:1.39.8" variation 2062 /gene="EFHB" /replace="c" /replace="t" /db_xref="dbSNP:4858714" exon 2130..2342 /gene="EFHB" /inference="alignment:Splign:1.39.8" exon 2343..2524 /gene="EFHB" /inference="alignment:Splign:1.39.8" exon 2525..2857 /gene="EFHB" /inference="alignment:Splign:1.39.8" polyA_signal 2832..2837 /gene="EFHB" polyA_site 2857 /gene="EFHB" ORIGIN
ctccatcttttcctctgtgaactcggctaggtgttaagaggcaggcaggaagcaatggacagggagtccgagtgaggttgtgctctttcctgagagaggggttccgcaagggattggaggcgtctttgtagccaggtacagctttccccttagagatgagcgctcttggagaaatgagaatggggagaaatcgtccatgaacatggagattggacatccccacgaaggaaaggatgatttaggagacaagagggtcatcatgggaacaaaatttcccatggagttggggatcagagtaggattaggaaaagaagattcccgatgcggggagagccctgtggttagtaataagtgtgagggaaggatggcaccaccagaaacaaaatttccattgagcaaggggcttgaaatgggattagaaagacagaatatttctaggactgtcatgcagaggggtagtttaggagtcgacagtgtctcagcttcacagggaacaaaaccttctctgttgccaggaagaatggggttagaaaatgagagtcttcttgcaggatatacccatgaacggataatacagcctcctttgggcagggtgtgtggaagttcacaggctgcagggagcaggagagctcctttggctagtggccctgaaggggtagaggaattagtgggaaagcctgctttcgttatggaaccaagacaggaaatggaaaaagagtctacctgtgttttaatgaaacccaacacagagattaagcttcctgtggaggtggacattggactaacccaagccgaggggccagatgagactaagaatacagagccccaaatgggcttggtgatagaacctccccaatgccagtttgcccaacaacatgaacagagaaaggaggctggaaacattgaatcaggagtggaacctccagatcgcatcagacccatatactctgggaagttttttgatcggaccccttgctggccaagtgcaggaaaagttattccagttggttacagagttgcaacctgcttgactgaaaaacttcccaggctaattactccacctgaagcaaaaaagtatttcaacttcagatatccacctgctggagtagaaagagtattttacggaagagcaaatgatccccagattgcaccttatttgacacatggaattagatctaaaatttcagtactggcaaacacattgataaacccacagcctattaccacatttcaacagaaaattaaagataaaaaagaatctatatatcttagcaatcgacgagcaccattaggaaaatctcacgatcaagcaccaggattaccaaaaggcatggacacaaccaatacgacatttgggacagcagtcatcaaagaatactctgctaaagatgtggtgaatccaccaaaatcctatgaagaagtatttaaagaaggaaatgaaggacatgatttgtatgttgtttctcacaatgattattatgcaggagaggcaaagaaccgaaagtataacccatcaagtttccataggtgtagtgtgtatggagtaccaacaccacattttaatgatggacgagccatggcaaaatctctatattggctccatgaactacaaatgaaaagaggagctaagtttgtatccaaaagagcagatgatttcaaagaaaagtttcaacataaacttggaagagttttagatcccattgcagaaacaatgaatgttcccccagactgcacatttggagcttgtctccgtcctgaggaatatggagttggtgatctcatccataatagacttccggatgaatatcttcgaggcaaggatagacagcgagccctgattgcagcagttcggcatcacctgaagaaagttaattaccaaaagtttgacactttgctggcagccttcaggcactatgacaagaagggagatgggatgatagataaagacgagctgcaggaagcttgtgaccaggccaacttgagtttagatgacaagctcctggaccagctatttgactactgtgatgtggataatgatggcttcattaactatctggaattcgcaaattttcttaactggaaagacaaaatgcttcttaaagagtatgaagagagggtcattattaaaggtagaaaaccagattgtgtaaaccctactgaggctaatgttgaagaacctgaacaaactctcctcataaagccagaagatattgtcttaaaagaagcaggaagcacagaaaagactctccggacacttctgagaccaagtgataaagtttccaactactataagacaacttcttctgagatcaatgcaattgtaggagccattccttctacttgttaccccatttgtggtgttccaaccattcgatctgacattcctgctccccgaattcgtcgcatcagtgacagaactaattatggtgaagaaggtagtgcatattcactactatatcctaccatttttgcccggaaaggagtgtttgaaagagacttcttcaagaccagatcaaaagaagagattgcagagatattgtgtaacattggtgtcaaactgtctgatgaagaatttgaaaatgtatggaatcttgcatcaaaaaagcatcacagaggagaagtttgtgttgagaacatcagaaatgttctagatgagctacggcatgcagaccggatcaagtgtaaaacactcatgtgatatttttggacttcattcattcaagcaaaagaattattaactctgtgtttatctaaaatgttgaatccattctggttttagatattatgttagagttcacagtggtaagactcatatgcctgtatgtgttgctaataaattagattttggattttaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:151651 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
by
@meso_cacase at
DBCLS
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