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2024-04-16 23:41:00, 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
//
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
by
@meso_cacase at
DBCLS
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