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2025-12-23 02:50:47, 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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