2025-05-12 01:56:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001204210 2509 bp mRNA linear PRI 28-JAN-2013 DEFINITION Homo sapiens transmembrane protein 235 (TMEM235), transcript variant 1, mRNA. ACCESSION NM_001204210 VERSION NM_001204210.1 GI:323633424 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 2509) AUTHORS Maher,G.J., Hilton,E.N., Urquhart,J.E., Davidson,A.E., Spencer,H.L., Black,G.C. and Manson,F.D. TITLE The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members JOURNAL FEBS Lett. 585 (14), 2187-2192 (2011) PUBMED 21689651 REMARK GeneRIF: Data demonstrate that TMEM114, and the closely related TMEM235, are closely related to members of the voltage dependent calcium channel gamma subunit family. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC042066.1, AC087645.19, BI757060.1 and BI757981.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-607 BC042066.1 1-607 608-608 AC087645.19 110118-110118 c 609-662 BC042066.1 609-662 663-950 BI757060.1 1-288 951-1322 BI757981.1 221-592 1323-2376 BC042066.1 1104-2157 2377-2377 AC087645.19 101252-101252 c 2378-2509 BC042066.1 2159-2290 FEATURES Location/Qualifiers source 1..2509 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q25.3" gene 1..2509 /gene="TMEM235" /gene_synonym="ARGM1" /note="transmembrane protein 235" /db_xref="GeneID:283999" /db_xref="HGNC:27563" exon 1..32 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:1.39.8" exon 33..814 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:1.39.8" variation 102 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="t" /db_xref="dbSNP:373457945" variation 208 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:8068282" misc_feature 277..279 /gene="TMEM235" /gene_synonym="ARGM1" /note="upstream in-frame stop codon" variation 310 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:190468765" variation 454 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="c" /db_xref="dbSNP:182291436" variation 566 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="g" /db_xref="dbSNP:28758682" variation 568 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:186093980" variation 608 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="t" /db_xref="dbSNP:8068943" CDS 625..1296 /gene="TMEM235" /gene_synonym="ARGM1" /note="isoform 1 precursor is encoded by transcript variant 1; transmembrane protein ENSP00000364084" /codon_start=1 /product="transmembrane protein 235 isoform 1 precursor" /protein_id="NP_001191139.1" /db_xref="GI:323633425" /db_xref="CCDS:CCDS56046.1" /db_xref="GeneID:283999" /db_xref="HGNC:27563" /translation="
MARLGALLLAAALGALLSFALLAAAVASDYWYILEVADAGNGSAWPGRAELLSSHSGLWRICEGQNGCIPLVDPFASESLDVSTSVQHLILLHRAVIVVLPLSLVLLVCGWICGLLSSLAQSVSLLLFTGCYFLLGSVLTLAGVSIYISYSHLAFAETVQQYGPQHMQGVRVSFGWSMALAWGSCALEAFSGTLLLSAAWTLSLSPPICGHLSPQQVGGRGGD
" sig_peptide 625..708 /gene="TMEM235" /gene_synonym="ARGM1" /inference="non-experimental evidence, no additional details recorded" /note="Potential; propagated from UniProtKB/Swiss-Prot (A6NFC5.3)" misc_feature 706..1185 /gene="TMEM235" /gene_synonym="ARGM1" /note="PMP-22/EMP/MP20/Claudin tight junction; Region: Claudin_2; pfam13903" /db_xref="CDD:206074" mat_peptide 709..1293 /gene="TMEM235" /gene_synonym="ARGM1" /product="Transmembrane protein 235" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (A6NFC5.3)" misc_feature 910..972 /gene="TMEM235" /gene_synonym="ARGM1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (A6NFC5.3); transmembrane region" misc_feature 1000..1062 /gene="TMEM235" /gene_synonym="ARGM1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (A6NFC5.3); transmembrane region" misc_feature 1150..1212 /gene="TMEM235" /gene_synonym="ARGM1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (A6NFC5.3); transmembrane region" exon 815..895 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:1.39.8" variation 822 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:61730389" variation 831 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:375739797" variation 864 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:9894186" variation 867 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:372588474" variation 869..870 /gene="TMEM235" /gene_synonym="ARGM1" /replace="" /replace="c" /db_xref="dbSNP:35761771" exon 896..1033 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:1.39.8" variation 915 /gene="TMEM235" /gene_synonym="ARGM1" /replace="g" /replace="t" /db_xref="dbSNP:79885699" variation 945 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="c" /db_xref="dbSNP:187765975" variation 951 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:11077350" variation 1011 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:75864177" exon 1034..1283 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:1.39.8" variation 1076 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:373064807" variation 1077 /gene="TMEM235" /gene_synonym="ARGM1" /replace="g" /replace="t" /db_xref="dbSNP:375022647" variation 1091 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:200061211" variation 1092 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:61742450" variation 1098 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:377630810" variation 1132 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:200805574" variation 1146 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:61742094" variation 1176 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="g" /db_xref="dbSNP:370152360" variation 1192 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:370270314" variation 1197 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:373537642" variation 1227 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="g" /db_xref="dbSNP:373500178" variation 1246 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:201651781" variation 1259 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="t" /db_xref="dbSNP:56319950" variation 1265 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:201037898" exon 1284..2491 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:1.39.8" variation 1307 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:370508383" variation 1335 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:374568034" variation 1378 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:367858964" variation 1385 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:140627927" variation 1411..1412 /gene="TMEM235" /gene_synonym="ARGM1" /replace="" /replace="g" /db_xref="dbSNP:35192751" variation 1437 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:370495709" variation 1608 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:142931529" variation 1609 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:147426172" variation 1690 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:74880921" variation 1704 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:376042034" variation 1759 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:117797315" variation 1817 /gene="TMEM235" /gene_synonym="ARGM1" /replace="g" /replace="t" /db_xref="dbSNP:370651751" variation 1881..1882 /gene="TMEM235" /gene_synonym="ARGM1" /replace="" /replace="c" /db_xref="dbSNP:35326777" variation 1900 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:7211670" variation 1915 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="g" /db_xref="dbSNP:139709610" variation 1946 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:111622843" variation 1989 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="g" /db_xref="dbSNP:375124947" variation 2076 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:368312826" variation 2119 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:149927936" variation 2170 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:74963848" variation 2206 /gene="TMEM235" /gene_synonym="ARGM1" /replace="" /replace="g" /db_xref="dbSNP:35317789" variation 2318 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:182459585" variation 2377 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="c" /db_xref="dbSNP:7211218" variation 2486 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:368970365" ORIGIN
gtcctagaaggttctttctgcctgttttctccccccccgcccggctgtggggcccagccactgcacttcaccggatgccgtctggttggtcctcaggactgatacagaccaggaccccagggccagcccgtgccaggctcctatgcttccaggagcacgggtgggtggtcctgctgcctggccggccatcctcctggggtcggtctctggccgatcctccctcctcctctcaagccctgcacagcccggccaggcaggtgcatcttgtttggctgctgaggagccgggggttcagggaaattaaggaacgtgcccagggacccggggccagcccgtggggacgctgggattggagcccaagccccaggttcgccgcgcggctctcgacttcctctcctttcccccaggggcgagctcagcgaccgcagagaggtggggtcgatctccctgcgaccccagggggcccgcgaggccagtgcgcgggcaggagcggggacgtgctcagaagagccgggcgccgccgcgcccgcccgccccccgtcccccggctcccggctccgcgcgccccccgccgcccccggggccctgctacccccgacccgtcccctcccgccggccgcccccatggcccggctgggcgcgctgctcctggccgccgccctgggtgcactgctcagcttcgcgctcctggccgccgcggtcgccagcgactactggtacatcctggaggtggcggacgccggcaatggcagcgcctggcccgggcgcgcagagctgctctcctcgcactcggggctctggcgcatctgcgaagggcagaacggctgcatcccgctggtcgacccttttgccagtgagagcctggacgtctccacctcggtgcagcacctcatcttgctgcaccgtgcagtcattgtggtcctgcccctgagcctggtccttctcgtgtgtggctggatctgcggcctgctcagctccctggcccagagcgtgtctctgctgcttttcaccggctgctacttcctgctggggagtgtcctgacactggcgggggtcagcatctacatcagctactcgcacctggcctttgcggagacggtgcagcagtatggcccgcagcacatgcagggcgtccgcgtcagcttcggctggtccatggccctggcctggggctcctgtgccttggaggcattcagcggaaccctcctgctctcagctgcctggaccctcagcctgagccccccaatctgtggtcatctgagtccccagcaggtgggagggagagggggagactgaggcccagagcggcagagggacccacccagatcgcctggcgccagagagatgccgtctcaggccaaggcctccctggcctctgttctgtccactctccccgaagggcaggcttggtggagaagaggctgatgagagggcccgagagcccctccgatttgcaggggtggggggcaaggagctgagcgatccagatgtacccctctgccccctcccttgttctcaagcctgctaggtacttttcactgagcacttccgggaagagcaggcacccagatctctgtccttgtcctggcacaggctgctgctgcttccggcccccgacccttcctctctgcagcaacccgggggaggtatgccactgtgagtgccctggtgggcacactgagctggcagagatggaagtcccagaagggtggggtgggggtgtcatgccatggtggaggagtttggggccactccttgcctgcctcaaagggggcctggctgagggtgcttcttgaccacaggggccagggctgcctagggtggcgcagggctgggcctggagtttgggatgcaggcttgttaaacacagggcagaaccccaggttgggaggggctcagtttgcaggcccaggcccgcaggcccactgctggtcccagggtgagacaggtgagaagagggatggccagcacacacttgagtccccttgggccacaaaggctggggcacgcccaccgttatgcagatggacagttgaggtggctgcaggagaagggttcccagggcctgtacaacacgtggaagcactaaacggccccgtttggggtttgggggcccttcccgagtcttgagaggtcttgagaggtgtgctggggaaggtggcagcctcttgtagcttgatcttcctccaccctgccccacccctaggtctctttattgattcaaaggttaaggaagctcctgggggcttgagggggtggcacagttttggtggggcccagtgaggacaaatctggggggtgagcagggcctcctcttcctcctggtgtttgaacgtttaccattccatgtgggaccattgtgccaatttgtccttaagtaaatcacttgtgctgtgtgcagtataagccttttatttttcttagaacttttcaaaataggtaacacatgcctgtctgtcataaacagtacaaacgtgagcaaacactgtcaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:283999 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA GeneID:283999 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IEA GeneID:283999 -> Cellular component: GO:0005923 [tight junction] evidence: IEA GeneID:283999 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:283999 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IEA
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