2025-05-12 01:42:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001204211 2428 bp mRNA linear PRI 28-JAN-2013 DEFINITION Homo sapiens transmembrane protein 235 (TMEM235), transcript variant 2, mRNA. ACCESSION NM_001204211 VERSION NM_001204211.1 GI:323635428 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 2428) 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 and BC036810.1. Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than 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 609-628 BC042066.1 609-628 629-2295 BC036810.1 1-1667 2296-2296 AC087645.19 101252-101252 c 2297-2428 BC036810.1 1669-1800 FEATURES Location/Qualifiers source 1..2428 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q25.3" gene 1..2428 /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..1215 /gene="TMEM235" /gene_synonym="ARGM1" /note="isoform 2 precursor is encoded by transcript variant 2; transmembrane protein ENSP00000364084" /codon_start=1 /product="transmembrane protein 235 isoform 2 precursor" /protein_id="NP_001191140.1" /db_xref="GI:323635429" /db_xref="CCDS:CCDS56047.1" /db_xref="GeneID:283999" /db_xref="HGNC:27563" /translation="
MARLGALLLAAALGALLSFALLAAAVASDYWYILEVADAGNGSAWPGRAELLSSHSGLWRICEVLHRAVIVVLPLSLVLLVCGWICGLLSSLAQSVSLLLFTGCYFLLGSVLTLAGVSIYISYSHLAFAETVQQYGPQHMQGVRVSFGWSMALAWGSCALEAFSGTLLLSAAWTLSLSPPICGHLSPQQVGGRGGD
" sig_peptide 625..705 /gene="TMEM235" /gene_synonym="ARGM1" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 706..1104 /gene="TMEM235" /gene_synonym="ARGM1" /note="PMP-22/EMP/MP20/Claudin tight junction; Region: Claudin_2; pfam13903" /db_xref="CDD:206074" exon 815..952 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:1.39.8" variation 834 /gene="TMEM235" /gene_synonym="ARGM1" /replace="g" /replace="t" /db_xref="dbSNP:79885699" variation 864 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="c" /db_xref="dbSNP:187765975" variation 870 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:11077350" variation 930 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:75864177" exon 953..1202 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:1.39.8" variation 995 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:373064807" variation 996 /gene="TMEM235" /gene_synonym="ARGM1" /replace="g" /replace="t" /db_xref="dbSNP:375022647" variation 1010 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:200061211" variation 1011 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:61742450" variation 1017 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:377630810" variation 1051 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:200805574" variation 1065 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:61742094" variation 1095 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="g" /db_xref="dbSNP:370152360" variation 1111 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:370270314" variation 1116 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:373537642" variation 1146 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="g" /db_xref="dbSNP:373500178" variation 1165 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:201651781" variation 1178 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="t" /db_xref="dbSNP:56319950" variation 1184 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:201037898" exon 1203..2410 /gene="TMEM235" /gene_synonym="ARGM1" /inference="alignment:Splign:1.39.8" variation 1226 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:370508383" variation 1254 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:374568034" variation 1297 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:367858964" variation 1304 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:140627927" variation 1330..1331 /gene="TMEM235" /gene_synonym="ARGM1" /replace="" /replace="g" /db_xref="dbSNP:35192751" variation 1356 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:370495709" variation 1527 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:142931529" variation 1528 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:147426172" variation 1609 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:74880921" variation 1623 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="g" /db_xref="dbSNP:376042034" variation 1678 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:117797315" variation 1736 /gene="TMEM235" /gene_synonym="ARGM1" /replace="g" /replace="t" /db_xref="dbSNP:370651751" variation 1800..1801 /gene="TMEM235" /gene_synonym="ARGM1" /replace="" /replace="c" /db_xref="dbSNP:35326777" variation 1819 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:7211670" variation 1834 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="g" /db_xref="dbSNP:139709610" variation 1865 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:111622843" variation 1908 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="g" /db_xref="dbSNP:375124947" variation 1995 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:368312826" variation 2038 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:149927936" variation 2089 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:74963848" variation 2125 /gene="TMEM235" /gene_synonym="ARGM1" /replace="" /replace="g" /db_xref="dbSNP:35317789" variation 2237 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:182459585" variation 2296 /gene="TMEM235" /gene_synonym="ARGM1" /replace="a" /replace="c" /db_xref="dbSNP:7211218" variation 2405 /gene="TMEM235" /gene_synonym="ARGM1" /replace="c" /replace="t" /db_xref="dbSNP:368970365" ORIGIN
gtcctagaaggttctttctgcctgttttctccccccccgcccggctgtggggcccagccactgcacttcaccggatgccgtctggttggtcctcaggactgatacagaccaggaccccagggccagcccgtgccaggctcctatgcttccaggagcacgggtgggtggtcctgctgcctggccggccatcctcctggggtcggtctctggccgatcctccctcctcctctcaagccctgcacagcccggccaggcaggtgcatcttgtttggctgctgaggagccgggggttcagggaaattaaggaacgtgcccagggacccggggccagcccgtggggacgctgggattggagcccaagccccaggttcgccgcgcggctctcgacttcctctcctttcccccaggggcgagctcagcgaccgcagagaggtggggtcgatctccctgcgaccccagggggcccgcgaggccagtgcgcgggcaggagcggggacgtgctcagaagagccgggcgccgccgcgcccgcccgccccccgtcccccggctcccggctccgcgcgccccccgccgcccccggggccctgctacccccgacccgtcccctcccgccggccgcccccatggcccggctgggcgcgctgctcctggccgccgccctgggtgcactgctcagcttcgcgctcctggccgccgcggtcgccagcgactactggtacatcctggaggtggcggacgccggcaatggcagcgcctggcccgggcgcgcagagctgctctcctcgcactcggggctctggcgcatctgcgaagtgctgcaccgtgcagtcattgtggtcctgcccctgagcctggtccttctcgtgtgtggctggatctgcggcctgctcagctccctggcccagagcgtgtctctgctgcttttcaccggctgctacttcctgctggggagtgtcctgacactggcgggggtcagcatctacatcagctactcgcacctggcctttgcggagacggtgcagcagtatggcccgcagcacatgcagggcgtccgcgtcagcttcggctggtccatggccctggcctggggctcctgtgccttggaggcattcagcggaaccctcctgctctcagctgcctggaccctcagcctgagccccccaatctgtggtcatctgagtccccagcaggtgggagggagagggggagactgaggcccagagcggcagagggacccacccagatcgcctggcgccagagagatgccgtctcaggccaaggcctccctggcctctgttctgtccactctccccgaagggcaggcttggtggagaagaggctgatgagagggcccgagagcccctccgatttgcaggggtggggggcaaggagctgagcgatccagatgtacccctctgccccctcccttgttctcaagcctgctaggtacttttcactgagcacttccgggaagagcaggcacccagatctctgtccttgtcctggcacaggctgctgctgcttccggcccccgacccttcctctctgcagcaacccgggggaggtatgccactgtgagtgccctggtgggcacactgagctggcagagatggaagtcccagaagggtggggtgggggtgtcatgccatggtggaggagtttggggccactccttgcctgcctcaaagggggcctggctgagggtgcttcttgaccacaggggccagggctgcctagggtggcgcagggctgggcctggagtttgggatgcaggcttgttaaacacagggcagaaccccaggttgggaggggctcagtttgcaggcccaggcccgcaggcccactgctggtcccagggtgagacaggtgagaagagggatggccagcacacacttgagtccccttgggccacaaaggctggggcacgcccaccgttatgcagatggacagttgaggtggctgcaggagaagggttcccagggcctgtacaacacgtggaagcactaaacggccccgtttggggtttgggggcccttcccgagtcttgagaggtcttgagaggtgtgctggggaaggtggcagcctcttgtagcttgatcttcctccaccctgccccacccctaggtctctttattgattcaaaggttaaggaagctcctgggggcttgagggggtggcacagttttggtggggcccagtgaggacaaatctggggggtgagcagggcctcctcttcctcctggtgtttgaacgtttaccattccatgtgggaccattgtgccaatttgtccttaagtaaatcacttgtgctgtgtgcagtataagccttttatttttcttagaacttttcaaaataggtaacacatgcctgtctgtcataaacagtacaaacgtgagcaaacactgtcaaaaaaaaaaaaaaaaaaa
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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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