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2024-03-28 22:05:48, 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:

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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