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2024-03-28 23:45:19, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_031442               4068 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens transmembrane protein 47 (TMEM47), mRNA.
ACCESSION   NM_031442
VERSION     NM_031442.3  GI:169234733
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 4068)
  AUTHORS   Gourraud,P.A., Sdika,M., Khankhanian,P., Henry,R.G., Beheshtian,A.,
            Matthews,P.M., Hauser,S.L., Oksenberg,J.R., Pelletier,D. and
            Baranzini,S.E.
  TITLE     A genome-wide association study of brain lesion distribution in
            multiple sclerosis
  JOURNAL   Brain 136 (PT 4), 1012-1024 (2013)
   PUBMED   23412934
REFERENCE   2  (bases 1 to 4068)
  AUTHORS   Azhibekov,T.A., Wu,Z., Padiyar,A., Bruggeman,L.A. and Simske,J.S.
  TITLE     TM4SF10 and ADAP interaction in podocytes: role in Fyn activity and
            nephrin phosphorylation
  JOURNAL   Am. J. Physiol., Cell Physiol. 301 (6), C1351-C1359 (2011)
   PUBMED   21881001
  REMARK    GeneRIF: TM4SF10, possibly through ADAP, may regulate Fyn activity
REFERENCE   3  (bases 1 to 4068)
  AUTHORS   Cheung,I.Y., Feng,Y., Danis,K., Shukla,N., Meyers,P., Ladanyi,M.
            and Cheung,N.K.
  TITLE     Novel markers of subclinical disease for Ewing family tumors from
            gene expression profiling
  JOURNAL   Clin. Cancer Res. 13 (23), 6978-6983 (2007)
   PUBMED   18056173
REFERENCE   4  (bases 1 to 4068)
  AUTHORS   Christophe-Hobertus,C., Kooy,F., Gecz,J., Abramowicz,M.J.,
            Holinski-Feder,E., Schwartz,C. and Christophe,D.
  TITLE     TM4SF10 gene sequencing in XLMR patients identifies common
            polymorphisms but no disease-associated mutation
  JOURNAL   BMC Med. Genet. 5, 22 (2004)
   PUBMED   15345028
  REMARK    GeneRIF: Single nucleotide polymorphisms, but no disease-associated
            mutations, were identified in X-linked mental retardation patients.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4068)
  AUTHORS   Christophe-Hobertus,C., Szpirer,C., Guyon,R. and Christophe,D.
  TITLE     Identification of the gene encoding Brain Cell Membrane Protein 1
            (BCMP1), a putative four-transmembrane protein distantly related to
            the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and
            the Claudins
  JOURNAL   BMC Genomics 2, 3 (2001)
   PUBMED   11472633
  REMARK    GeneRIF: A 4-transmembrane protein, related to PMP22/EMPs and the
            Claudins, localizes to the plasma membrane and the ER. The mRNA is
            present in high amounts in brain.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC039242.1, CX788638.1 and
            AL596285.4.
            On Mar 1, 2008 this sequence version replaced gi:30795223.
            
            Summary: This gene encodes a member of the PMP22/EMP/claudin
            protein family. The encoded protein is localized to the ER and the
            plasma membrane. In dogs, transcripts of this gene exist at high
            levels in the brain. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC039242.1, AL136550.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-253               BC039242.1         1-253
            254-847             CX788638.1         242-835
            848-4051            AL596285.4         60712-63915         c
            4052-4068           BC039242.1         4053-4069
FEATURES             Location/Qualifiers
     source          1..4068
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..4068
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /note="transmembrane protein 47"
                     /db_xref="GeneID:83604"
                     /db_xref="HGNC:18515"
                     /db_xref="HPRD:06741"
                     /db_xref="MIM:300698"
     exon            1..485
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /inference="alignment:Splign:1.39.8"
     CDS             260..805
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /note="transmembrane 4 superfamily member 10; brain cell
                     membrane protein 1"
                     /codon_start=1
                     /product="transmembrane protein 47"
                     /protein_id="NP_113630.1"
                     /db_xref="GI:13899273"
                     /db_xref="CCDS:CCDS14235.1"
                     /db_xref="GeneID:83604"
                     /db_xref="HGNC:18515"
                     /db_xref="HPRD:06741"
                     /db_xref="MIM:300698"
                     /translation="
MASAGSGMEEVRVSVLTPLKLVGLVCIFLALCLDLGAVLSPAWVTADHQYYLSLWESCRKPASLDIWHCESTLSSDWQIATLALLLGGAAIILIAFLVGLISICVGSRRRFYRPVAVMLFAAVVLQVCSLVLYPIKFIETVSLKIYHEFNWGYGLAWGATIFSFGGAILYCLNPKNYEDYY
"
     misc_feature    320..382
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQJ4.1);
                     transmembrane region"
     misc_feature    341..775
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /note="PMP-22/EMP/MP20/Claudin tight junction; Region:
                     Claudin_2; pfam13903"
                     /db_xref="CDD:222446"
     misc_feature    506..568
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQJ4.1);
                     transmembrane region"
     misc_feature    602..664
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQJ4.1);
                     transmembrane region"
     misc_feature    713..775
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQJ4.1);
                     transmembrane region"
     exon            486..626
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /inference="alignment:Splign:1.39.8"
     exon            627..4054
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /inference="alignment:Splign:1.39.8"
     STS             1713..1839
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /standard_name="STS-N41007"
                     /db_xref="UniSTS:81748"
     variation       1860
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1127632"
     STS             2217..2554
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /standard_name="SHGC-132877"
                     /db_xref="UniSTS:185051"
     STS             2382..2543
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /standard_name="SHGC-54257"
                     /db_xref="UniSTS:52507"
     STS             3734..3981
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /standard_name="STS-T48038"
                     /db_xref="UniSTS:18374"
     STS             3740..3959
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
                     /standard_name="RH67914"
                     /db_xref="UniSTS:57613"
     polyA_signal    4018..4023
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
     polyA_signal    4024..4029
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
     polyA_site      4043
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
     polyA_site      4054
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10"
ORIGIN      
ggcagagcgcggcgcggggccggcggcgaaggtccggggtggaatcgacgtcgctgcggctgccgacgacccacacccggccggccgcctccgcagacccaccttggccgcgcggcagggggcgcgcagagccccgagggagcgagtccccgcgcgtggcagctcggcggcttctcccttcgggaggtccggctcccggctctccggacccgcctggcgtcctcgcctgcggcggggcggacgacagcggcgcccaggaatggcttcggcgggcagcggcatggaggaggtgcgcgtgtcggtgctgacccccttgaagctggtcgggctggtgtgcatcttcctggcgctgtgtctggacctgggggcggtgctgagcccggcctgggtcacagctgaccaccagtactacctgtcgttgtgggagtcctgccggaaacccgccagcttggacatctggcactgcgagtccacgctcagcagcgattggcagattgctactctggctttactcctgggcggcgctgccatcattctcattgcattcctggtgggtttgatttctatctgcgtgggatctcgaaggcgtttctatagacctgttgcggtcatgctttttgcagcagttgttttacaggtttgcagcctggtcctttacccaatcaagttcattgaaactgtgagcttgaaaatttaccatgagttcaactggggttatggcctggcctggggtgcaactatattttcgtttgggggtgccatcctttattgcctgaaccctaagaactatgaagactactactagaaccaatagtctcaaagtaaaaacaaccaccaccatccaacaaaaggattacgtctgcatcttttctaacttactattttctaaaacacttgtggagcatcaagcagtttgctcagttgatttaatcttttttgccttttggctgtcaacatcataaccagcttttacatccattttagaaatctgcacaaattaagagagctgattagacataggcaaatgctgcaaacttccaatatgttcatatcgtttttcttgacaaatgaagggtctatatgacagcaaccattgtgagaaactagttggaatgagatttgcctcaatctcctattgcctgcaggggagcagttggcataagcaacatttagaagttcctttgcgctgacaaggattccactgttagagcccttaccgcctgcttatcctacccaatgactacattggctgttggttatttgcttgagtgagcccttgaaaaatgaactgcccttcagcatctaatgggagttgtgaatgtaactggttaatgatacacattccaccttcaggaacactctttttaatgggaggttatgctttggcaatcagcgtctccctgggaagagagtcaagacttggagacatgtgcttctcattatgtggttagaaattggtgcctcagccctatctagactggggaaaaattgaggatctctgtttttcctggggcaaacagaaagaaatctgcatgagttgcttttgtaccctttaaatcatttgccaaacattgcagcaaacaagtgtgcgtatgtaacaagcttcactgtttttatagaaggtgaaccattagtataaatggtaataagttgttccctaaccctccacatacatttgcctatcacacgtaaaattaatatttactctagtgaagtggtttgagcactaaccttgtacacattgttaagaggcttagattggtattcatacttatttaccatacaaaagtatggtaccttaaagcttttgctctatgttctttactgtttcactggaaagtgtcaatagagttgcctaagaataaaaattgaaatggtgttaatctgaaaattaatgattctctgtaagcactgtagttgaaaagagagtagcaattaggatgatcattttgtgtaaaattcattaaaatagaaggctgctattttttgcaagtattttaaatgtcttcatttttttaagaaaggaatagcgatagatttatataaatatctaaatgtctcagtagaggagtagaattcatctggttatcacctggtcctctgaagttaactgatgggctaaccgatttgtgcacacacttaggatggatttatgttaagggaattacttactgactgttcaatggaaggaagtattaataatagggaataagtttgcaactaatctcatgctgcaaacttgtgttaattctgtttaatatacaaatttggatagcttaattataaacatatttttatatcaaatatacagttctaatataaaagttataaataattatttttgttaacaaagacactaaaacagtatgttctggttttggccctcttgcagaaagaagcattagaaaaattactttaaaagtagctatatgttactgtattgcaaaatctgttaagagcaggaccacatcgatagtatttaataatttgttttacctcccaaaacacagttcttctttcagcttgtcttaagaatggttgccaaaaacaacagccaaaaaaaaaaaacctattttattatccaaatgctagaaaacacacatgaattttctataaaatcacgaatatgaagtaccaggtttagtcttactttagcaatgatagacaaaagcgaataaatacatcacagacagaaacctttataaaaatatatgattctataaagaatcattagaaattatgagtggaaattctccagaaagatagtattatagagtcttttgaagcaattttttgagaaatagtaaaatctggggcagagtgtcttgcagttaattgcatattgtcagagcagcatgagaaatatgatatttggatagggatttcagcaactaaacattctctgttctgagatctctttattcctgaataatgaaagaatagtactttggtgctgacaccaatgaggcacttctcttggtcctagtagaggatgcagtgtactgttaaaccaatatcatcacatctcgagtcttatcaagttttcattctctgtcaatatgacaagctcaaagtgacagaatatgttataggttgaagcacacatatttgcagtttactgaaaagtagatttcttatgtgacttttttcccttctcagcaaagagccctacactagatttctaccatcactaatatttggaagtatttcattactaacaatctcagtacaacatgaaaattgttgcttctcatctaaaatacaattttgtctatcagaataaacacaagtgaaattttcacctacattaacattatgtctttgcagctttaggtttgttagatgtgttcttaagcataatttttagccacaaacccattgttagatagatatctatggatatagatctacatctatagatatagatatacacacatatatatactcacacacatatagcataaaatactcagcagggctagttattccgatttcttgcacaattatttagctttttgtaagttcaacatgtaaattttaaagacataaatatagagagacttatgtgtttgaatataaatgatatatatggattagcatgtacctgtatattattaaacatgcaatgaactgactggtaagtgacgtctaattgtatggctagcaatgtaatttattcagactgtatttttgtacagagcagtgcactctaacctatgcctctgtgtcctctttaatgcctaaagctgtgcctagaaatttcatctgtcttaaaagtaaaatatacttcatgctgtttatgctattagtttctgtactgctattctatatttattatttttaaatatatgacatgtttactacttaaacatgaattcatggtatcctggttattttttttaagtcatctgggggaaaacctgtttatcactccagtgattttgagtttgcagtttcacaatcagttcttcatttcatgatttttgtagttgacatgaagtcatctatgtggaaaaaaataaaaataaaagtgatttcacggatgtggtttgaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:83604 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
            GeneID:83604 -> Cellular component: GO:0005911 [cell-cell junction] evidence: IEA
            GeneID:83604 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA

by @meso_cacase at DBCLS
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