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2025-05-09 16:57:13, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001093730 2051 bp mRNA linear PRI 18-APR-2013
DEFINITION Homo sapiens dystrotelin (DYTN), mRNA.
ACCESSION NM_001093730
VERSION NM_001093730.1 GI:157364925
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 2051)
AUTHORS Jin,H., Tan,S., Hermanowski,J., Bohm,S., Pacheco,S., McCauley,J.M.,
Greener,M.J., Hinits,Y., Hughes,S.M., Sharpe,P.T. and Roberts,R.G.
TITLE The dystrotelin, dystrophin and dystrobrevin superfamily: new
paralogues and old isoforms
JOURNAL BMC Genomics 8, 19 (2007)
PUBMED 17233888
REMARK Publication Status: Online-Only
COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final
NCBI review. The reference sequence was derived from DQ516347.1.
##Evidence-Data-START##
Transcript exon combination :: DQ516347.1 [ECO:0000332]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..2051
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q33.3"
gene 1..2051
/gene="DYTN"
/note="dystrotelin"
/db_xref="GeneID:391475"
/db_xref="HGNC:23279"
exon 1..136
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(35)
/gene="DYTN"
/replace=""
/replace="t"
/db_xref="dbSNP:373787138"
variation complement(47)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:375554872"
misc_feature 70..72
/gene="DYTN"
/note="upstream in-frame stop codon"
variation complement(84)
/gene="DYTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:370099249"
CDS 118..1854
/gene="DYTN"
/codon_start=1
/product="dystrotelin"
/protein_id="NP_001087199.1"
/db_xref="GI:157364926"
/db_xref="CCDS:CCDS46502.1"
/db_xref="GeneID:391475"
/db_xref="HGNC:23279"
/translation="
MDPDKQDALNSIENSIYRTAFKLQSVQTLCQLDLIDSSLIQQVLLRPSFWEARKHSLSVQQLSQALQELFQKAREENPGQVHPRAPELTLSLLTTMYNSKGTGFLQLMPAAAALITLSGDSPLSKYRALFQLYAENSRGGYDSGPRMTRRVLRKLLTDLQQIPTFVGESRALCPVESATRSCFQGVLSPAIKEEKFLSWVQSEPPILLWLPTCHRLSAAERVTHPARCTLCRTFPITGLRYRCLKCLNFDICQMCFLSGLHSKSHQKSHPVIEHCIQMSAMQNTKLLFRTLRNNLLQGRCRKKEAARRQQLLDQVNPKGVPHHAQARLLKKQLNQYKDKLQAIYTSQEERICRFETRIHKLKTNQDSLWTKLQQIRRDLQARLQPPGPSSSSFQNVGNKVDHSSTEKVPKGGDYLQIKNATEDASTGEPLPKLDEVDRSHRSHTNAEHALRNPESPETTLHSTRAQSQTQKMPQKVISALPSYQEGLKQDIPKMVPAEMSSPALAAVEKKEAGNIKERKDELEEEELQELLSKLMDAFNLETPSGPESSVNMDLYSGAQRVCRAFSALVDQIALPNLK
"
misc_feature 142..471
/gene="DYTN"
/note="EF hand; Region: efhand_1; pfam09068"
/db_xref="CDD:149945"
misc_feature 490..768
/gene="DYTN"
/note="EF-hand; Region: efhand_2; pfam09069"
/db_xref="CDD:149946"
misc_feature 793..939
/gene="DYTN"
/note="Zinc finger, ZZ type. Zinc finger present in
dystrophin and dystrobrevin. The ZZ motif coordinates two
zinc ions and most likely participates in ligand binding
or molecular scaffolding. Dystrophin attaches actin
filaments to an integral membrane...; Region:
ZZ_dystrophin; cd02334"
/db_xref="CDD:30238"
misc_feature order(799..801,808..810,844..846,853..855,871..873,
880..882,910..912,922..924)
/gene="DYTN"
/note="Zinc-binding sites [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature order(799..801,808..810,871..873,880..882)
/gene="DYTN"
/note="zinc cluster 1 [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature order(802..804,835..837,841..843,859..861,865..867)
/gene="DYTN"
/note="putative charged binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(838..840,883..885,928..930,937..939)
/gene="DYTN"
/note="putative hydrophobic binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(844..846,853..855,910..912,922..924)
/gene="DYTN"
/note="zinc cluster 2 [ion binding]; other site"
/db_xref="CDD:30238"
exon 137..211
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(148)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:372992603"
variation complement(193)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:145763126"
variation complement(209)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:376875747"
exon 212..413
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(244)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:376672997"
variation complement(253)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:144139666"
variation complement(254)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:369410820"
variation complement(275)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:201346934"
variation complement(306)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:67248530"
variation complement(321)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:78679916"
variation complement(362)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:368526887"
variation complement(374)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:184242013"
variation complement(384)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:374496658"
variation complement(388)
/gene="DYTN"
/replace="a"
/replace="c"
/db_xref="dbSNP:372880670"
variation complement(390)
/gene="DYTN"
/replace="a"
/replace="c"
/db_xref="dbSNP:201983397"
exon 414..499
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(430)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:375852360"
variation complement(446)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:200127309"
variation complement(451)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:201045711"
variation complement(457)
/gene="DYTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:201993785"
variation complement(459)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:199991903"
variation complement(482)
/gene="DYTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:56067462"
variation complement(496)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:200713304"
exon 500..600
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(527)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:200720001"
variation complement(544)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:116768218"
variation complement(554)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:376587365"
variation complement(555)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:146519194"
variation complement(562)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:372283021"
variation complement(563)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:368477015"
variation complement(568)
/gene="DYTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:201301748"
variation complement(582)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:371211980"
variation complement(587)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:114675847"
exon 601..672
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(612)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:370984067"
variation complement(626)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:141321104"
variation complement(641)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:113838785"
variation complement(650)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:199745795"
variation complement(652)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:201657349"
variation complement(653)
/gene="DYTN"
/replace="a"
/replace="c"
/db_xref="dbSNP:372828749"
variation complement(655)
/gene="DYTN"
/replace="a"
/replace="c"
/db_xref="dbSNP:200369556"
exon 673..836
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(714)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:372309495"
variation complement(725)
/gene="DYTN"
/replace="a"
/replace="t"
/db_xref="dbSNP:112735024"
variation complement(741)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:116493063"
variation complement(749)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:200283597"
variation complement(750)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:113447424"
variation complement(771)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:374016300"
variation complement(790)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:370880332"
variation complement(796)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:202213345"
variation complement(797)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:200422382"
exon 837..948
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(839)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:16838593"
variation complement(842)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:183705947"
variation complement(855)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:201422671"
variation complement(864)
/gene="DYTN"
/replace="a"
/replace="t"
/db_xref="dbSNP:369466188"
variation complement(893)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:376294616"
variation complement(908)
/gene="DYTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:373406102"
variation complement(918)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:369987895"
variation complement(925)
/gene="DYTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:200782718"
exon 949..1097
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(976)
/gene="DYTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:375843014"
variation complement(977)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:201166130"
variation complement(987)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:182085591"
variation complement(999)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:200592657"
variation complement(1031)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:114709725"
variation complement(1035)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:200794203"
variation complement(1041)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:60722121"
variation complement(1043)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:201676491"
variation complement(1053)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:368704058"
variation complement(1056)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:199695763"
variation complement(1057)
/gene="DYTN"
/replace="a"
/replace="c"
/db_xref="dbSNP:374635947"
variation complement(1086)
/gene="DYTN"
/replace="a"
/replace="t"
/db_xref="dbSNP:370297106"
variation complement(1088)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:376262781"
variation complement(1089)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:150696195"
exon 1098..1257
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(1100)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:377442544"
variation complement(1101)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:200245926"
variation complement(1126)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:369087472"
variation complement(1156)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:180718219"
variation complement(1174)
/gene="DYTN"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:139354756"
variation complement(1182)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:375063110"
variation complement(1227)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:188179011"
variation complement(1235)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:201745628"
variation complement(1246)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:372031421"
variation complement(1247)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:369023527"
variation complement(1256)
/gene="DYTN"
/replace="a"
/replace="t"
/db_xref="dbSNP:376857940"
variation complement(1257)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:372265464"
exon 1258..1750
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(1258)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:372401712"
variation complement(1270)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:367667719"
variation complement(1307)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:373862091"
variation complement(1316)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:370160378"
variation complement(1319)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:367901418"
variation complement(1332)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:374054060"
variation complement(1338)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:143345015"
variation complement(1356)
/gene="DYTN"
/replace="a"
/replace="t"
/db_xref="dbSNP:376810245"
variation complement(1396)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:184887506"
variation complement(1446)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:371223903"
variation complement(1468)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:377396036"
variation complement(1510)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:373029999"
variation complement(1515)
/gene="DYTN"
/replace="a"
/replace="t"
/db_xref="dbSNP:4482460"
variation complement(1533)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:368849506"
variation complement(1537)
/gene="DYTN"
/replace="a"
/replace="c"
/db_xref="dbSNP:2115591"
variation complement(1562)
/gene="DYTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:79969810"
variation complement(1717)
/gene="DYTN"
/replace="a"
/replace="c"
/db_xref="dbSNP:13408906"
variation complement(1721)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:201792178"
variation complement(1742)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:200349172"
variation complement(1743)
/gene="DYTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:372227236"
exon 1751..2051
/gene="DYTN"
/inference="alignment:Splign:1.39.8"
variation complement(1772)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:201045992"
variation complement(1807)
/gene="DYTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:201639314"
variation complement(1835)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:373954592"
variation complement(1840)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:373373737"
variation complement(1868)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:200081961"
variation complement(1875)
/gene="DYTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:368435160"
variation complement(1878)
/gene="DYTN"
/replace="a"
/replace="t"
/db_xref="dbSNP:374419183"
variation complement(2003)
/gene="DYTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:369834015"
ORIGIN
ttgcctttttgttcccctgtcctcattcctctgctgcaaaaccttctgcttaaaatactggttcatttctagttacagggacccacttgccatctgtcattccaggaaatttgtgaaatggatccagataaacaagatgctcttaatagtattgagaattccatttatagaacagccttcaaattacaatcagtgcaaactctgtgccagttggacttgattgacagctccctgattcagcaggtcctactgcgtccaagtttctgggaagctcgcaagcactccctttctgtgcagcaactttctcaggcactccaagagctgtttcagaaggccagggaggaaaacccaggacaagtgcatcccagagctccggaactcactctgagccttctcacgacaatgtacaacagcaaaggaacaggttttctccagcttatgcctgcggccgctgccctaataaccctctcaggagacagccctctttcaaaataccgagctctttttcaactctatgcagaaaatagcaggggaggctatgattctgggccacgcatgactcgaagggttttgagaaaactactaacagatctacagcagatcccaactttcgtgggagagagtcgtgctctgtgccctgtggaaagtgccacccgcagctgtttccaaggggtgttgagcccagcaatcaaagaagaaaaattcctgtcttgggtccaatctgagcctcccatcctcctgtggctcccgacctgccaccggttatcagctgctgaaagggtcactcaccctgctcggtgcactctctgcaggactttcccaatcacgggactcagataccgctgtctgaagtgtctcaactttgacatctgccagatgtgtttcttatctggtcttcacagcaagtcccatcagaagtctcatcctgtcattgagcactgcattcagatgtcagcaatgcagaatacaaaacttctcttcaggaccctcagaaacaaccttcttcaggggcgctgtaggaagaaagaagcagcgagaaggcagcagctgctggaccaggtgaatccaaagggtgtgcctcaccatgcgcaggccaggctccttaaaaaacagttaaaccaatacaaagacaagttgcaagctatatacacctcccaggaagaaagaatttgtcgatttgaaacaaggattcacaaactcaaaaccaaccaggatagtctatggaccaagctacaacagataagacgggacctacaggcaaggttgcagccacccggtccttcatcttcttcctttcaaaatgtggggaacaaggttgaccattcttcaactgaaaaggttccaaagggaggggattatttgcagatcaagaatgccactgaagatgcttcaacaggggaacctcttcctaagcttgatgaggttgacagaagtcacagaagtcacacaaatgcagagcatgctctgcgaaatccagaatcaccagagaccactttgcacagcaccagggcacaaagccaaacacaaaagatgccacagaaagtcattagtgccctacccagttatcaggagggactgaagcaggacatccccaaaatggttcctgctgaaatgagcagtcctgctctggcagccgtggaaaagaaagaggcaggtaacatcaaggagagaaaggatgagctggaggaagaggaactgcaagaactattgtcaaaacttatggatgccttcaatctagaaacgccatcaggcccggagtcttcagtaaacatggacctgtacagtggagctcagcgagtgtgcagggccttctctgcccttgttgatcaaattgccttgcccaatttgaagtgaaatggagtccaggctcaaaggcctcttggtgtgatgacaaaatgcagttgcacaactgtattaaaagaattaagacttctacctttcttttaatagtttagtgtgaactatgaagaaaacaggttttgttttttgatctccctccctacttatgtatcttagttctgcagttcagagtgaaggttgggggttagcag
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:391475 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
GeneID:391475 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:391475 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
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