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2025-05-09 18:34:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001098814 4219 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens sarcalumenin (SRL), mRNA.
ACCESSION NM_001098814 XM_064152 XM_942054
VERSION NM_001098814.1 GI:149363671
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 4219)
AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
Gibbs,R.A. and Butte,N.F.
TITLE Novel genetic loci identified for the pathophysiology of childhood
obesity in the Hispanic population
JOURNAL PLoS ONE 7 (12), E51954 (2012)
PUBMED 23251661
REFERENCE 2 (bases 1 to 4219)
AUTHORS Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
TITLE Identification of 4370 expressed sequence tags from a
3'-end-specific cDNA library of human skeletal muscle by DNA
sequencing and filter hybridization
JOURNAL Genome Res. 6 (1), 35-42 (1996)
PUBMED 8681137
REFERENCE 3 (bases 1 to 4219)
AUTHORS Leberer,E., Charuk,J.H., Green,N.M. and MacLennan,D.H.
TITLE Molecular cloning and expression of cDNA encoding a lumenal calcium
binding glycoprotein from sarcoplasmic reticulum
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 86 (16), 6047-6051 (1989)
PUBMED 2762314
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DB149163.1, AL831973.2, AK056588.1, AL832361.1, DA563862.1 and
F26773.1.
On or before Jun 26, 2007 this sequence version replaced
gi:113425877, gi:113426305.
##Evidence-Data-START##
Transcript exon combination :: AK056588.1, AL831973.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-28 DB149163.1 1-28
29-459 AL831973.2 1-431
460-483 AK056588.1 460-483
484-566 DB149163.1 484-566
567-1259 AL831973.2 539-1231
1260-1573 AL832361.1 2632-2945
1574-2487 AL831973.2 1547-2460
2488-2681 AL832361.1 3860-4053
2682-2936 DA563862.1 307-561
2937-3092 AL831973.2 2910-3065
3093-3762 AK056588.1 1437-2106
3763-4211 AL831973.2 3736-4184
4212-4219 F26773.1 322-329
FEATURES Location/Qualifiers
source 1..4219
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p13.3"
gene 1..4219
/gene="SRL"
/note="sarcalumenin"
/db_xref="GeneID:6345"
/db_xref="HGNC:11295"
/db_xref="MIM:604992"
exon 1..74
/gene="SRL"
/inference="alignment:Splign:1.39.8"
CDS 14..1435
/gene="SRL"
/codon_start=1
/product="sarcalumenin precursor"
/protein_id="NP_001092284.1"
/db_xref="GI:149363672"
/db_xref="CCDS:CCDS42113.1"
/db_xref="GeneID:6345"
/db_xref="HGNC:11295"
/db_xref="MIM:604992"
/translation="
MRALVLLGCLLASLLFSGQAEETEDANEEAPLRDRSHIEKTLMLNEDKPSDDYSAVLQRLRKIYHSSIKPLEQSYKYNELRQHEITDGEITSKPMVLFLGPWSVGKSTMINYLLGLENTRYQLYTGAEPTTSEFTVLMHGPKLKTIEGIVMAADSARSFSPLEKFGQNFLEKLIGIEVPHKLLERVTFVDTPGIIENRKQQERGYPFNDVCQWFIDRADLIFVVFDPTKLDVGLELEMLFRQLKGRESQIRIILNKADNLATQMLMRVYGALFWSLAPLINVTEPPRVYVSSFWPQEYKPDTHQELFLQEEISLLEDLNQVIENRLENKIAFIRQHAIRVRIHALLVDRYLQTYKDKMTFFSDGELVFKDIVEDPDKFYIFKTILAKTNVSKFDLPNREAYKDFFGINPISSFKLLSQQCSYMGGCFLEKIERAITQELPGLLGSLGLGKNPGALNCDKTGCSETPKNRYRKH
"
sig_peptide 14..73
/gene="SRL"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 296..1021
/gene="SRL"
/note="Eps15 homology domain (EHD), C-terminal domain;
Region: EHD; cd09913"
/db_xref="CDD:206740"
misc_feature 299..784
/gene="SRL"
/note="Dynamin family; Region: Dynamin_N; pfam00350"
/db_xref="CDD:201172"
misc_feature 311..334
/gene="SRL"
/note="G1 box; other site"
/db_xref="CDD:206740"
misc_feature order(326..337,581..583,779..781,785..787,887..895)
/gene="SRL"
/note="GTP/Mg2+ binding site [chemical binding]; other
site"
/db_xref="CDD:206740"
misc_feature 404..406
/gene="SRL"
/note="G2 box; other site"
/db_xref="CDD:206740"
misc_feature 416..424
/gene="SRL"
/note="Switch I region; other site"
/db_xref="CDD:206740"
misc_feature 581..592
/gene="SRL"
/note="G3 box; other site"
/db_xref="CDD:206740"
misc_feature order(587..592,668..673)
/gene="SRL"
/note="Switch II region; other site"
/db_xref="CDD:206740"
misc_feature 776..787
/gene="SRL"
/note="G4 box; other site"
/db_xref="CDD:206740"
misc_feature 854..856
/gene="SRL"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
/citation=[3]
misc_feature 887..895
/gene="SRL"
/note="G5 box; other site"
/db_xref="CDD:206740"
misc_feature 1178..1180
/gene="SRL"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
/citation=[3]
exon 75..176
/gene="SRL"
/inference="alignment:Splign:1.39.8"
exon 177..272
/gene="SRL"
/inference="alignment:Splign:1.39.8"
exon 273..389
/gene="SRL"
/inference="alignment:Splign:1.39.8"
exon 390..623
/gene="SRL"
/inference="alignment:Splign:1.39.8"
exon 624..4214
/gene="SRL"
/inference="alignment:Splign:1.39.8"
STS 846..1493
/gene="SRL"
/standard_name="SRL__5315"
/db_xref="UniSTS:463911"
variation 1490
/gene="SRL"
/replace="c"
/replace="g"
/db_xref="dbSNP:251787"
STS 2063..2149
/gene="SRL"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
variation 2378
/gene="SRL"
/replace="c"
/replace="t"
/db_xref="dbSNP:200621667"
variation 2682
/gene="SRL"
/replace="a"
/replace="g"
/db_xref="dbSNP:2240668"
variation 3798
/gene="SRL"
/replace="a"
/replace="g"
/db_xref="dbSNP:369466725"
STS 3955..4077
/gene="SRL"
/standard_name="RH102371"
/db_xref="UniSTS:96705"
polyA_signal 4191..4196
/gene="SRL"
ORIGIN
cttggcagtcaccatgagggcgctggtcctgctcggctgcctcctggcctcgctcctgttctcaggacaagcagaagagacggaggatgcaaatgaagaagccccattgagggaccgctcccacatcgagaagaccctcatgctgaatgaggacaagccatccgatgactactctgcggtgctgcagcggcttcggaagatctaccactcatccatcaagcctctggagcagtcctacaagtacaatgagctccggcagcatgagatcacagatggagagattacctccaagcccatggtactgttcctgggaccgtggagtgttggtaaatctaccatgataaactacctccttgggctggaaaatactcgctatcagctctatacaggcgctgaacccaccacctctgagttcacggtcctcatgcatgggcctaagctgaaaaccatcgagggcatcgtcatggctgctgacagcgcccgttccttctcaccccttgagaagtttggccagaatttcctagagaagctgattggcattgaggttccccacaaacttctggagagggtcacttttgtggatacaccaggcatcatcgagaaccgcaagcagcaagaaagaggctaccccttcaacgacgtgtgccagtggttcatcgacagagctgacctcatctttgtcgtctttgacccaacaaagctggatgtgggtctagagctggagatgctcttccgccagttgaaggggcgtgaatcccagataaggatcatcctgaacaaggctgacaatctggccacccaaatgctcatgcgggtttacggggccctcttctggagcttggcccctctcatcaatgtcacagagcccccaagggtttacgtcagctccttctggccacaagagtataagccggacacccatcaggaactgttcctccaagaagagatctccctcctagaagacctgaatcaggtgatcgagaacagactggagaacaagattgccttcatccgccagcacgccatccgggtccgcatccacgccctcctggttgaccgctacctgcagacttacaaggacaaaatgaccttcttcagtgatggagaactggtctttaaggacattgtggaagatcccgataaattctacatcttcaagaccatcctggcaaagaccaatgtcagcaaatttgaccttcccaaccgcgaggcctataaggacttcttcggcatcaatcccatttccagtttcaaactgctctcccagcagtgctcctacatgggaggttgctttctggagaagattgagcgggccatcactcaggagcttccgggcctcctgggtagcctcgggctcgggaagaatccaggtgctctcaactgtgacaaaacagggtgtagcgaaacaccaaaaaatcgctacaggaagcactaggtggtggagcggtccttgggttcctgttggtgaatcagcttgtgtcctaactgtctgagaggtcctggtttattaaccctttgagccacactggcaggaattattacacagtggagagttgggagttcattgaggccaggggtcggggcaggtgtgtgggtctagggaggagagtggaaactgtgaattcctgtgtgcttgtcttgttgcttcaatgaggaggcctgattgaggcaagtcagcctccacctgcttttcctgggtcctgtcttggaaggacagagagcagctaaattctagtgtatcttaaatcagtgagggtcaaataagctaaaagcagctgaaattcctttgttccctgtgagctgggaaaacagcgaaggcctgagtcgtagagattgtcaggtccattttggcttctttccacacccacagtctcgcgtttgttccccagccctcggctgcctcttaactttgggttgactttcaacagtgaatagtctcttgggtctgaatatacctgggtttgtttttgtgtttttgagacggagtctcgctctgtcggccaggttggagtgcagtggtgcaatctcagctcactgcaacctccccctcctgggttcaagcgattctcctgcctcagcctcctgagtagctgagattataggcctaccaccatgcccagccaatttttgtatttttagtagaaacgggacttcaccatgttgcccaggctggcctcgaactcctgacctcaagtgatccacccgcctcggcctcccaaagtgctgggattacaggcatgagctgccgcacccggcctccacctgggttttgagccaatcccccggacttgctcctggtttcctcaaggggtggggcagtggtttaggacactcgacaactaagaacaggagttcccaggaaggacaaggatctgcctcccccactgccacttctctgatgtgttcctcaaagctggctcgagggctcgatcccttcatcggacccaggaggggactggttggtgtatccaggtaatttactcttggaagtgactgtagtgaaggtcgtggaagggctcagagggttaattggtttgcagtgcgtctttgtctattgcatgtcttggaaaactcagatcccaaaggcgctgggtttcagagaggacagtggagaccttgctccttttccttaggccgccagtctctcaaatttcagaggaggctgtttccacaactcccctgtggaaacacttggcagcggagttgctcctttgcagtttccacaccatggcttttcctttcctttcttctccattccctgatgcatcaacacttacttggagcaatttcctaggagtcagaaccagcaccagccactcggtgtcggtggccaccaaggcttaacattgaccttcccgcctgaccttgatgcagatgtccactgaacacaccgcaggaaagccagggccttcaataccaataagtgtgaatatgtgtgtatgttgtccaagagagattagggagatcacatagactctagggagtagagaacttgtaacagtcttgcaaggctagcatgcacggctccacagcaggtggtggggagcagaggggcaggacctgcagggaagaagcagcctttggatggtgaaatgtgcatggtgcacagtctgtgcatgcccaggagacccagcccgggctgcctcgaggggctcctttgtacacagccagccgcttctcttgggaacaagctgtcctgggggccttacccacgaggcaggagtcaggatgcaccagctcagcaccaggaagtcatcctggacccaggacagtggaaaggcaggcagagggagaggcactctgaggtcaggcagggtaagccagttggcagtcaggttaggtctatgaggagaacctcgagttaggaattcccggttctcagaattgttatcactctggtgcatgctgtcacaggggccgttgcgtttggctttgtggagggcctggacccttccacaagaacacccgaggttccagggcactcaggacaatgtttccaaggaacgagtcgaccaggaaagaacagtgagttctgcaaggggcatccacggagcctgtgataggggctgatgagatggaatctgtcctggacttttcttctcattaaccaccctccgcaaaccccagaacccctcgcctcatctctgtactgtctgccctcttgggggatgggccctcccactttcccctgcctgctcctccatgctgtgagctgctttggcagatctgtttttctgtgtagtcaggggaaaaacaaaaaaagatgcacaactgtgtgggcattgtcatagctgttggtgtcaccactgctttgggggaaatggctgggatgaggctaatacattcatgcaatatttatattttcagggggctgcgttatcagcatgctctccctgccttgggcttttctttccgtcatgttttccttttcgtgttccttctctgatttctcttgtctctgctgctcacaggcctgcccatcagtcagtacagatactcagtgtctggtttctggccagctccgtggagggggctttaagcagaattctgactctttggggtgggggattaggaactgggggaaacttaatgatccagagattcccccaagaggagtgtctggaaggatctgtgcctggacagtggcagaacctttccagtgttcttttggttctgatttcatcagtctcaataaagttccgatctctctttaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:6345 -> Molecular function: GO:0003924 [GTPase activity] evidence: IEA
GeneID:6345 -> Molecular function: GO:0005525 [GTP binding] evidence: IEA
GeneID:6345 -> Cellular component: GO:0033018 [sarcoplasmic reticulum lumen] evidence: IEA
by
@meso_cacase at
DBCLS
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