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2024-04-25 18:47:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032027 1250 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.
ACCESSION NM_032027
VERSION NM_032027.2 GI:17738309
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 1250)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
REFERENCE 2 (bases 1 to 1250)
AUTHORS Cam,J.A., Zerbinatti,C.V., Knisely,J.M., Hecimovic,S., Li,Y. and
Bu,G.
TITLE The low density lipoprotein receptor-related protein 1B retains
beta-amyloid precursor protein at the cell surface and reduces
amyloid-beta peptide production
JOURNAL J. Biol. Chem. 279 (28), 29639-29646 (2004)
PUBMED 15126508
REMARK GeneRIF: These findings reveal that low density lipoprotein
receptor-related protein 1B is a novel binding partner of
beta-amyloid precursor protein (APP) that functions to decrease APP
processing to amyloid beta peptides.
REFERENCE 3 (bases 1 to 1250)
AUTHORS Lee,Y., Chang,D.J., Lee,Y.S., Chang,K.A., Kim,H., Yoon,J.S.,
Lee,S., Suh,Y.H. and Kaang,B.K.
TITLE Beta-amyloid peptide binding protein does not couple to G protein
in a heterologous Xenopus expression system
JOURNAL J. Neurosci. Res. 73 (2), 255-259 (2003)
PUBMED 12836168
REMARK GeneRIF: A two-electrode voltage-clamp technique is used to
determine that BBP is not directly coupled to G alpha(i/o), G
alpha(s), or G alpha(q) proteins and that BBP may need a component
other than amyloid precursor protein to exert its toxic effect with
A beta.
REFERENCE 4 (bases 1 to 1250)
AUTHORS Kirfel,G., Borm,B., Rigort,A. and Herzog,V.
TITLE The secretory beta-amyloid precursor protein is a motogen for human
epidermal keratinocytes
JOURNAL Eur. J. Cell Biol. 81 (12), 664-676 (2002)
PUBMED 12553667
REMARK GeneRIF: sAPP increased the proportion of migrating keratinocytes
and their directional persistence. sAPP appeared to operate
synergistically with fibronectin with respect to its motogenic
effect.
REFERENCE 5 (bases 1 to 1250)
AUTHORS Kajkowski,E.M., Lo,C.F., Ning,X., Walker,S., Sofia,H.J., Wang,W.,
Edris,W., Chanda,P., Wagner,E., Vile,S., Ryan,K.,
McHendry-Rinde,B., Smith,S.C., Wood,A., Rhodes,K.J., Kennedy,J.D.,
Bard,J., Jacobsen,J.S. and Ozenberger,B.A.
TITLE beta -Amyloid peptide-induced apoptosis regulated by a novel
protein containing a g protein activation module
JOURNAL J. Biol. Chem. 276 (22), 18748-18756 (2001)
PUBMED 11278849
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF353990.1.
On Dec 14, 2001 this sequence version replaced gi:14042944.
Summary: The protein encoded by this gene is a beta-amyloid
peptide-binding protein. It contains a structural module related to
that of the seven transmembrane domain G protein-coupled receptor
superfamily and known to be important in heterotrimeric G protein
activation. Beta-amyloid peptide has been established to be a
causative factor in neuron death and the consequent diminution of
cognitive abilities observed in Alzheimer's disease. This protein
may be a target of neurotoxic beta-amyloid peptide, and may mediate
cellular vulnerability to beta-amyloid peptide toxicity through a G
protein-regulated program of cell death. [provided by RefSeq, Dec
2008].
##Evidence-Data-START##
Transcript exon combination :: AF353990.1, BC029486.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
CDS uses downstream in-frame AUG :: downstream AUG is associated
with N-terminal localization
signal (PMID:11278849)
##RefSeq-Attributes-END##
COMPLETENESS: full length.
FEATURES Location/Qualifiers
source 1..1250
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p31.3"
gene 1..1250
/gene="TM2D1"
/gene_synonym="BBP"
/note="TM2 domain containing 1"
/db_xref="GeneID:83941"
/db_xref="HGNC:24142"
/db_xref="HPRD:16540"
/db_xref="MIM:610080"
exon 1..467
/gene="TM2D1"
/gene_synonym="BBP"
/inference="alignment:Splign:1.39.8"
misc_feature 16..18
/gene="TM2D1"
/gene_synonym="BBP"
/note="upstream in-frame stop codon"
CDS 304..927
/gene="TM2D1"
/gene_synonym="BBP"
/note="TM2 domain-containing protein 1; hBBP;
beta-amyloid-binding protein"
/codon_start=1
/product="TM2 domain-containing protein 1 precursor"
/protein_id="NP_114416.1"
/db_xref="GI:14042945"
/db_xref="GeneID:83941"
/db_xref="HGNC:24142"
/db_xref="HPRD:16540"
/db_xref="MIM:610080"
/translation="
MAAAWPSGPSAPEAVTARLVGVLWFVSVTTGPWGAVATSAGGEESLKCEDLKVGQYICKDPKINDATQEPVNCTNYTAHVSCFPAPNITCKDSSGNETHFTGNEVGFFKPISCRNVNGYSYKVAVALSLFLGWLGADRFYLGYPALGLLKFCTVGFCGIGSLIDFILISMQIVGPSDGSSYIIDYYGTRLTRLSITNETFRKTQLYP
"
sig_peptide 304..414
/gene="TM2D1"
/gene_synonym="BBP"
mat_peptide 415..924
/gene="TM2D1"
/gene_synonym="BBP"
/product="TM2 domain-containing protein 1"
misc_feature 652..801
/gene="TM2D1"
/gene_synonym="BBP"
/note="TM2 domain; Region: TM2; pfam05154"
/db_xref="CDD:203181"
misc_feature 658..711
/gene="TM2D1"
/gene_synonym="BBP"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BX74.1);
transmembrane region"
misc_feature 763..825
/gene="TM2D1"
/gene_synonym="BBP"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BX74.1);
transmembrane region"
exon 468..541
/gene="TM2D1"
/gene_synonym="BBP"
/inference="alignment:Splign:1.39.8"
variation 472
/gene="TM2D1"
/gene_synonym="BBP"
/replace="a"
/replace="c"
/db_xref="dbSNP:1136134"
variation 478
/gene="TM2D1"
/gene_synonym="BBP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1136135"
variation 479
/gene="TM2D1"
/gene_synonym="BBP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1136136"
variation 483
/gene="TM2D1"
/gene_synonym="BBP"
/replace="a"
/replace="t"
/db_xref="dbSNP:3199309"
variation 487
/gene="TM2D1"
/gene_synonym="BBP"
/replace="a"
/replace="c"
/db_xref="dbSNP:1136137"
exon 542..650
/gene="TM2D1"
/gene_synonym="BBP"
/inference="alignment:Splign:1.39.8"
exon 651..742
/gene="TM2D1"
/gene_synonym="BBP"
/inference="alignment:Splign:1.39.8"
exon 743..816
/gene="TM2D1"
/gene_synonym="BBP"
/inference="alignment:Splign:1.39.8"
exon 817..946
/gene="TM2D1"
/gene_synonym="BBP"
/inference="alignment:Splign:1.39.8"
exon 947..1250
/gene="TM2D1"
/gene_synonym="BBP"
/inference="alignment:Splign:1.39.8"
STS 1096..1226
/gene="TM2D1"
/gene_synonym="BBP"
/standard_name="D1S2193"
/db_xref="UniSTS:64786"
STS 1125..1212
/gene="TM2D1"
/gene_synonym="BBP"
/standard_name="D10S1624"
/db_xref="UniSTS:42938"
polyA_signal 1229..1234
/gene="TM2D1"
/gene_synonym="BBP"
polyA_site 1250
/gene="TM2D1"
/gene_synonym="BBP"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
agcgggtgaagcacctgattgcctaaaccactcgtttccttcctccagcactcaaagattaaccttagctccttccaagggttcgtgggggaaaattcgcctcgagggactgggtacatgcatattttaaaagggtctcccaatgtgattccacgggctcacgggcagaagaacacgcgaagagacggaactggcctctatcctatgcgaggtccctttaagaacctcgccctgttgcccttctccctcccgctcctgggcggaggcggaagcggaagtggcgagaaagtgtcggtctccaagatggcggccgcctggccgtctggtccgtctgctccggaggccgtgacggccagactcgttggtgtcctgtggttcgtctcagtcactacaggaccctggggggctgttgccacctccgccgggggcgaggagtcgcttaagtgcgaggacctcaaagtgggacaatatatttgtaaagatccaaaaataaatgacgctacgcaagaaccagttaactgtacaaactacacagctcatgtttcctgttttccagcacccaacataacttgtaaggattccagtggcaatgaaacacattttactgggaacgaagttggttttttcaagcccatatcttgccgaaatgtaaatggctattcctacaaagtggcagtcgcattgtctctttttcttggatggttgggagcagatcgattttaccttggataccctgctttgggtttgttaaagttttgcactgtagggttttgtggaattgggagcctaattgatttcattcttatttcaatgcagattgttggaccttcagatggaagtagttacattatagattactatggaaccagacttacaagactgagtattactaatgaaacatttagaaaaacgcaattatatccataaatattttttaaaagaaacagatttgagcctccttgattttaatagagaacttctagtgtatggatttaaagatttctctttttcattcatataccattttatgagttctgtataattttttgtggtttttgttttgttgagttaaagtatattattgtgagatttatttaataggacttcctttgaaagctgtataatagtgtttctcgggcttctgtctctatgagagatagcttattactctgatactctttaatcttttacaaaggcaagttgccacttgtcatttttgtttctgaaaaataaaagtataacttattcac
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:83941 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:83941 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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