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2025-05-12 01:47:57, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001146336 959 bp mRNA linear PRI 07-APR-2013
DEFINITION Homo sapiens transmembrane protein 114 (TMEM114), mRNA.
ACCESSION NM_001146336 XM_001716059 XM_002343415 XM_002344949 XM_002348265
XM_208930 XR_039173
VERSION NM_001146336.1 GI:226437591
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 959)
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.
REFERENCE 2 (bases 1 to 959)
AUTHORS Jamieson,R.V., Farrar,N., Stewart,K., Perveen,R., Mihelec,M.,
Carette,M., Grigg,J.R., McAvoy,J.W., Lovicu,F.J., Tam,P.P.,
Scambler,P., Lloyd,I.C., Donnai,D. and Black,G.C.
TITLE Characterization of a familial t(16;22) balanced translocation
associated with congenital cataract leads to identification of a
novel gene, TMEM114, expressed in the lens and disrupted by the
translocation
JOURNAL Hum. Mutat. 28 (10), 968-977 (2007)
PUBMED 17492639
REMARK GeneRIF: TMEM114 has a role in mammalian cataract formation
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
EF424218.1, AI887966.1, BC150511.1 and AW135815.1.
On or before Feb 14, 2010 this sequence version replaced
gi:239752598, gi:239756472, gi:239745399, gi:169218301,
gi:169210170, gi:169209676.
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-69 EF424218.1 204-272 c
70-416 AI887966.1 1-347
417-594 BC150511.1 194-371
595-959 AW135815.1 1-365 c
FEATURES Location/Qualifiers
source 1..959
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p13.2"
gene 1..959
/gene="TMEM114"
/note="transmembrane protein 114"
/db_xref="GeneID:283953"
/db_xref="HGNC:33227"
/db_xref="MIM:611579"
CDS 1..672
/gene="TMEM114"
/codon_start=1
/product="transmembrane protein 114"
/protein_id="NP_001139808.1"
/db_xref="GI:226437592"
/db_xref="GeneID:283953"
/db_xref="HGNC:33227"
/db_xref="MIM:611579"
/translation="
MRVHLGGLAGAAALTGALSFVLLAAAIGTDFWYIIDTERLERTGPGAQDLLGSINRSQPEPLSSHSGLWRTCRVQSPCTPLMNPFRLENVTVSESSRQLLTMHGTFVILLPLSLILMVFGGMTGFLSFLLQAYLLLLLTGILFLFGAMVTLAGISVYIAYSAAAFREALCLLEEKALLDQVDISFGWSLALGWISFIAELLTGAAFLAAARELSLRRRQDQAI
"
misc_feature 19..81
/gene="TMEM114"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (B3SHH9.2);
transmembrane region"
misc_feature 55..591
/gene="TMEM114"
/note="PMP-22/EMP/MP20/Claudin tight junction; Region:
Claudin_2; pfam13903"
/db_xref="CDD:206074"
misc_feature 316..378
/gene="TMEM114"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (B3SHH9.2);
transmembrane region"
misc_feature 400..462
/gene="TMEM114"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (B3SHH9.2);
transmembrane region"
misc_feature 565..627
/gene="TMEM114"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (B3SHH9.2);
transmembrane region"
variation complement(265)
/gene="TMEM114"
/replace="a"
/replace="c"
/db_xref="dbSNP:1134730"
variation complement(291)
/gene="TMEM114"
/replace="c"
/replace="g"
/db_xref="dbSNP:17296111"
variation complement(314)
/gene="TMEM114"
/replace="c"
/replace="t"
/db_xref="dbSNP:375060188"
variation complement(332)
/gene="TMEM114"
/replace="c"
/replace="t"
/db_xref="dbSNP:184168316"
variation complement(347)
/gene="TMEM114"
/replace="c"
/replace="t"
/db_xref="dbSNP:201790227"
variation complement(368)
/gene="TMEM114"
/replace="c"
/replace="t"
/db_xref="dbSNP:192784948"
variation complement(369)
/gene="TMEM114"
/replace="a"
/replace="g"
/db_xref="dbSNP:371766294"
variation complement(391)
/gene="TMEM114"
/replace="c"
/replace="g"
/db_xref="dbSNP:367996805"
variation complement(393)
/gene="TMEM114"
/replace="a"
/replace="g"
/db_xref="dbSNP:375051150"
variation complement(438)
/gene="TMEM114"
/replace="a"
/replace="c"
/db_xref="dbSNP:188693297"
variation complement(440)
/gene="TMEM114"
/replace="c"
/replace="t"
/db_xref="dbSNP:141472774"
variation complement(477)
/gene="TMEM114"
/replace="a"
/replace="g"
/db_xref="dbSNP:368401181"
variation complement(514)
/gene="TMEM114"
/replace="c"
/replace="t"
/db_xref="dbSNP:377766635"
variation complement(611)
/gene="TMEM114"
/replace="a"
/replace="c"
/db_xref="dbSNP:201707080"
variation complement(656)
/gene="TMEM114"
/replace="a"
/replace="c"
/db_xref="dbSNP:373584493"
variation complement(665)
/gene="TMEM114"
/replace="c"
/replace="t"
/db_xref="dbSNP:370941636"
variation complement(697)
/gene="TMEM114"
/replace="a"
/replace="g"
/db_xref="dbSNP:7198383"
variation complement(789)
/gene="TMEM114"
/replace="a"
/replace="c"
/db_xref="dbSNP:185982114"
variation complement(804)
/gene="TMEM114"
/replace="c"
/replace="g"
/db_xref="dbSNP:114079952"
variation complement(812)
/gene="TMEM114"
/replace="c"
/replace="t"
/db_xref="dbSNP:181650415"
variation complement(911)
/gene="TMEM114"
/replace="a"
/replace="g"
/db_xref="dbSNP:143134061"
ORIGIN
atgcgggtgcacctgggcgggctggccggcgcggctgcgctgaccggggcgctcagctttgtgctcctggcggccgccatcggcacggacttctggtatatcattgacaccgagcggctggagaggactggcccgggggcgcaggacctgctggggtccatcaatcgcagccagcccgagcctctgagctcccactccggcctctggcggacctgccgggtgcagagcccgtgcacaccgctgatgaaccccttcaggctggagaacgtgacagtcagcgaatcgagccggcaacttctcaccatgcatgggacatttgtgattctgctgccgctcagcctgatcctgatggtttttggggggatgacggggtttctgagcttcctcctccaagcctacctcctcctcctgctcactggaattctcttcctctttggagccatggtgaccctcgctgggatcagcgtctacatagcgtattcagccgccgccttccgggaggcgctgtgtctcttggaggagaaggccctcctggaccaggtggacatcagcttcggctggtccctggccctgggctggatcagcttcatcgccgagctgctcaccggggcagccttcctggcagcagcccgcgagctcagcctgagacggaggcaggaccaggccatatgagcctgggcgctgggtcgtggaggggagggaggggcttggccccggagcttcaccgaccgatctccatcggctgcggcctcttcttcctcaaaggccactcggggaggccaggcacccccctccttcccccacaaatccccgcggactaagcttggggcctggctgttatcctagtacctgtgtgcttatgtccgtgtgtgtccgtgtggcctggaggagcccgagggagtgccaaaccgcttcgcgagaaataaaaacgatcctttaatcacaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:283953 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:283953 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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