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2024-03-28 18:14:20, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001005214            1125 bp    mRNA    linear   PRI 14-MAY-2013
DEFINITION  Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.
ACCESSION   NM_001005214 XM_496422
VERSION     NM_001005214.3  GI:194018473
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 1125)
  AUTHORS   Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals
            suggestive QTLs associated with essential hypertension: GenNet
            study
  JOURNAL   Eur. J. Hum. Genet. 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 1125)
  AUTHORS   Cheung,C.L., Chan,B.Y., Chan,V., Ikegawa,S., Kou,I., Ngai,H.,
            Smith,D., Luk,K.D., Huang,Q.Y., Mori,S., Sham,P.C. and Kung,A.W.
  TITLE     Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
            genetic association with bone mineral density variation
  JOURNAL   Hum. Mol. Genet. 18 (4), 679-687 (2009)
   PUBMED   19064610
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK098677.1, BC132983.1 and AA725678.1.
            On Jul 10, 2008 this sequence version replaced gi:142377344.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK098677.1, BC132981.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025085, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-775               AK098677.1         237-1011
            776-1064            BC132983.1         748-1036
            1065-1125           AA725678.1         1-61                c
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.1"
     gene            1..1125
                     /gene="LRRC52"
                     /note="leucine rich repeat containing 52"
                     /db_xref="GeneID:440699"
                     /db_xref="HGNC:32156"
                     /db_xref="MIM:615218"
     exon            1..678
                     /gene="LRRC52"
                     /inference="alignment:Splign:1.39.8"
     variation       8
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377447417"
     variation       15
                     /gene="LRRC52"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201636701"
     variation       18
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370709642"
     CDS             57..998
                     /gene="LRRC52"
                     /note="leucine-rich repeat-containing protein 52; BK
                     channel auxilliary gamma subunit LRRC52; BK channel
                     auxiliary gamma subunit LRRC52"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 52
                     precursor"
                     /protein_id="NP_001005214.2"
                     /db_xref="GI:194018474"
                     /db_xref="CCDS:CCDS30930.1"
                     /db_xref="GeneID:440699"
                     /db_xref="HGNC:32156"
                     /db_xref="MIM:615218"
                     /translation="
MSLASGPGPGWLLFSFGMGLVSGSKCPNNCLCQAQEVICTGKQLTEYPLDIPLNTRRLFLNENRITSLPAMHLGLLSDLVYLDCQNNRIREVMDYTFIGVFKLIYLDLSSNNLTSISPFTFSVLSNLVQLNIANNPHLLSLHKFTFANTTSLRYLDLRNTGLQTLDSAALYHLTTLETLFLSGNPWKCNCSFLDFAIFLIVFHMDPSDDLNATCVEPTELTGWPITRVGNPLRYMCITHLDHKDYIFLLLIGFCIFAAGTVAAWLTGVCAVLYQNTRHKSSEEDEDEAGTRVEVSRRIFQTQTSSVQEFPQLI
"
     sig_peptide     57..125
                     /gene="LRRC52"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     126..995
                     /gene="LRRC52"
                     /product="Leucine-rich repeat-containing protein 52"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2)"
     misc_feature    132..221
                     /gene="LRRC52"
                     /note="Leucine rich repeat N-terminal domain; Region:
                     LRRNT; smart00013"
                     /db_xref="CDD:197468"
     misc_feature    216..395
                     /gene="LRRC52"
                     /note="Leucine rich repeat; Region: LRR_8; pfam13855"
                     /db_xref="CDD:206026"
     misc_feature    216..281
                     /gene="LRRC52"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 1"
     misc_feature    288..353
                     /gene="LRRC52"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 2"
     misc_feature    360..542
                     /gene="LRRC52"
                     /note="Leucine rich repeat; Region: LRR_8; pfam13855"
                     /db_xref="CDD:206026"
     misc_feature    360..425
                     /gene="LRRC52"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 3"
     misc_feature    432..500
                     /gene="LRRC52"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 4"
     misc_feature    504..>611
                     /gene="LRRC52"
                     /note="Leucine Rich repeats (2 copies); Region: LRR_4;
                     pfam12799"
                     /db_xref="CDD:205079"
     misc_feature    507..572
                     /gene="LRRC52"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 5"
     misc_feature    789..851
                     /gene="LRRC52"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     transmembrane region"
     variation       63
                     /gene="LRRC52"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:374191095"
     variation       86
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:137987001"
     variation       113
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141692696"
     variation       164
                     /gene="LRRC52"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:200101224"
     variation       183
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376485734"
     variation       194
                     /gene="LRRC52"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:373800156"
     variation       200
                     /gene="LRRC52"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:139452874"
     variation       222
                     /gene="LRRC52"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:367686135"
     variation       223
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142543958"
     variation       233
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148736377"
     variation       239
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150814230"
     variation       260
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372760189"
     variation       265
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376324521"
     variation       281
                     /gene="LRRC52"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375094839"
     variation       302
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115653001"
     variation       319
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367635989"
     variation       324
                     /gene="LRRC52"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114878977"
     variation       325
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374982726"
     variation       350
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369144835"
     variation       352
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370972088"
     variation       353
                     /gene="LRRC52"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:114654661"
     variation       372
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140364875"
     variation       401
                     /gene="LRRC52"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:149047999"
     variation       416
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373153274"
     variation       421
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201605916"
     variation       422
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143080110"
     variation       423
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376333861"
     variation       438
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140229260"
     variation       455
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144317602"
     variation       458
                     /gene="LRRC52"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:138107763"
     variation       468
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373088117"
     variation       476
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377558727"
     variation       536
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145989841"
     variation       537
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:76618230"
     variation       642
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149365089"
     exon            679..1122
                     /gene="LRRC52"
                     /inference="alignment:Splign:1.39.8"
     variation       683
                     /gene="LRRC52"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:17407838"
     variation       722
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114352970"
     variation       735
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151287691"
     variation       737
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374391913"
     variation       754
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202095448"
     variation       759
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201124428"
     variation       770
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150046093"
     variation       825
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:137892314"
     variation       851
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368453603"
     STS             864..983
                     /gene="LRRC52"
                     /standard_name="RH99273"
                     /db_xref="UniSTS:88251"
     variation       876
                     /gene="LRRC52"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371179896"
     variation       884
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375410575"
     variation       885
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115506989"
     variation       921
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150359687"
     variation       923
                     /gene="LRRC52"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:138375533"
     variation       942
                     /gene="LRRC52"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:453717"
     variation       946
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114914708"
     variation       960
                     /gene="LRRC52"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:144838654"
     variation       965
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148593286"
     variation       968
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373601718"
     variation       970
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199663208"
     variation       971
                     /gene="LRRC52"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151094083"
     variation       974
                     /gene="LRRC52"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372080054"
     variation       1009
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79060241"
     variation       1012
                     /gene="LRRC52"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:6676948"
     variation       1030
                     /gene="LRRC52"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371535068"
     variation       1031
                     /gene="LRRC52"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199604137"
     variation       1034
                     /gene="LRRC52"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377227058"
     variation       1048
                     /gene="LRRC52"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370106877"
     variation       1110..1113
                     /gene="LRRC52"
                     /replace=""
                     /replace="taaa"
                     /db_xref="dbSNP:372299977"
ORIGIN      
gatcagaggacagagcccgcaggaaggtgaaaggagggtggttgtggcttcttactatgtcccttgcttcaggccctggccctgggtggttactcttttcctttggaatggggctggtatcagggtcaaagtgtccaaataattgtctgtgtcaagcccaagaagtaatctgcacagggaagcagttaaccgaatacccccttgacatacccctgaacacccggaggctgttcctgaacgagaacagaatcactagtttgccagcaatgcatctaggactcctcagtgaccttgtttatttggactgtcagaacaaccggattcgagaggtgatggattataccttcatcggggtcttcaaactcatctaccttgacctcagctccaacaacctaacctcgatctccccattcactttctcggtgctcagcaacctggtgcagctgaacattgccaacaaccctcacctgttatcgcttcacaagttcacctttgccaacaccacctctttgaggtacctggacctcagaaataccggcttgcagaccctggacagtgctgccttataccacctcactactctggagaccctgtttctgagtggaaacccctggaagtgcaactgctctttcctggacttcgccatcttcttaatagtgttccatatggacccctcagatgatctaaatgccacatgtgtggagcccacagagctgacagggtggcccatcacccgggtggggaacccactccgatacatgtgcatcacgcacctggaccacaaagactacatcttcctgctgctcatcggcttctgcatcttcgccgcgggaactgtggctgcctggctcacaggtgtgtgtgctgtgctctaccagaacacccgccacaagtcgagtgaagaagatgaggacgaggccgggactagggtggaagtcagccggcggatttttcaaacccagacgagctcggtccaggagttccctcagcttatttagttgccagagaccactatcttatgtgcctcccccaggctccctgctttctctcttgccctccccatcccaccaccttggagctgtcatagagattgaaaccttctagtaaaataaataaaatctcaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:440699 -> Biological process: GO:0006811 [ion transport] evidence: IEA
            GeneID:440699 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
            GeneID:440699 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA

by @meso_cacase at DBCLS
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