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2025-05-12 01:34:35, 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 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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