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2025-05-09 17:09:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_177452 3280 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens trafficking protein particle complex 6B (TRAPPC6B),
transcript variant 2, mRNA.
ACCESSION NM_177452
VERSION NM_177452.3 GI:118600987
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 3280)
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 3280)
AUTHORS Gwynn,B., Smith,R.S., Rowe,L.B., Taylor,B.A. and Peters,L.L.
TITLE A mouse TRAPP-related protein is involved in pigmentation
JOURNAL Genomics 88 (2), 196-203 (2006)
PUBMED 16697553
REFERENCE 3 (bases 1 to 3280)
AUTHORS Kummel,D., Muller,J.J., Roske,Y., Misselwitz,R., Bussow,K. and
Heinemann,U.
TITLE The structure of the TRAPP subunit TPC6 suggests a model for a
TRAPP subcomplex
JOURNAL EMBO Rep. 6 (8), 787-793 (2005)
PUBMED 16025134
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AL132639.4 and BC047328.1.
On Dec 2, 2006 this sequence version replaced gi:31343344.
Summary: TRAPPC6B is a component of TRAPP complexes, which are
tethering complexes involved in vesicle transport (Kummel et al.,
2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008].
Transcript Variant: This variant (2) lacks an alternate in-frame
exon in the mid-coding region, compared to variant 1, resulting in
a shorter protein (isoform 2), compared to isoform 1.
CCDS Note: This CCDS ID represents the shorter isoform encoded by
the TRAPPC6B gene. Although this protein lacks a segment of the
predicted TRAPP_Bet3 domain compared to the longer isoform
(represented by CCDS41947.1), there are several transcripts
supporting this shorter variant, and there is no experimental
evidence indicating that this variant does not encode a protein.
##Evidence-Data-START##
Transcript exon combination :: BC047328.1, AK056690.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-116 AL132639.4 13145-13260 c
117-3280 BC047328.1 1-3164
FEATURES Location/Qualifiers
source 1..3280
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q21.1"
gene 1..3280
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/note="trafficking protein particle complex 6B"
/db_xref="GeneID:122553"
/db_xref="HGNC:23066"
/db_xref="HPRD:18221"
/db_xref="MIM:610397"
exon 1..416
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/inference="alignment:Splign:1.39.8"
variation 105
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/replace="a"
/replace="c"
/db_xref="dbSNP:175341"
misc_feature 327..329
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/note="upstream in-frame stop codon"
CDS 336..728
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/note="isoform 2 is encoded by transcript variant 2;
trafficking protein particle complex subunit 6B"
/codon_start=1
/product="trafficking protein particle complex subunit 6B
isoform 2"
/protein_id="NP_803235.1"
/db_xref="GI:28976154"
/db_xref="CCDS:CCDS9670.1"
/db_xref="GeneID:122553"
/db_xref="HGNC:23066"
/db_xref="HPRD:18221"
/db_xref="MIM:610397"
/translation="
MADEALFLLLHNEMVSGVYKSAEQGEVENGRCITKLENMGFRVGQGLIERFTKDTARFKDELDIMKFICKDFWTTVFKKQIDNLRTNHQYLAFTCGLIRGGLSNLGIKSIVTAEVSSMPACKFQVMIQKL
"
misc_feature 351..725
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/note="Transport protein particle (TRAPP) component;
Region: TRAPP; pfam04051"
/db_xref="CDD:217862"
exon 417..484
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/inference="alignment:Splign:1.39.8"
variation 453
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/replace="c"
/replace="g"
/db_xref="dbSNP:435727"
variation 454
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/replace="c"
/replace="g"
/db_xref="dbSNP:435728"
exon 485..602
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/inference="alignment:Splign:1.39.8"
exon 603..696
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/inference="alignment:Splign:1.39.8"
exon 697..3267
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/inference="alignment:Splign:1.39.8"
STS 955..1109
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/standard_name="SGC44285"
/db_xref="UniSTS:63893"
STS 956..1055
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/standard_name="SHGC-44285"
/db_xref="UniSTS:28250"
variation 1596
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/replace="a"
/replace="t"
/db_xref="dbSNP:926971"
STS 1903..2014
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/standard_name="RH44741"
/db_xref="UniSTS:60192"
variation 2018
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/replace="g"
/replace="t"
/db_xref="dbSNP:1128054"
STS 3027..3210
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/standard_name="RH11234"
/db_xref="UniSTS:24662"
STS 3100..3219
/gene="TRAPPC6B"
/gene_synonym="TPC6"
/standard_name="WI-15625"
/db_xref="UniSTS:59713"
ORIGIN
gaatgccggggtagaggggaccggaagttgtttttttcgcccccgcccagcggccggatcgcatctcagctggttggctttggttagagctcccgtcagactttagttcggccctaggatttggtagccccgaagtgtgggctctctccagtaccagactcatttcagtaccagcctttgggaagtcgtgtgaatacctcggtctcttagccacagggatagaatggcggcctgacggagccgcggcgccggcgaagtcgctgaggcgcgagctggaacccccagaccagctcaaacgggagccaaaactcgaagcttggaagaattagcaggaaatggcggatgaggcgttgtttttgcttctccataacgagatggtgtctggagtgtacaagtccgcggagcagggggaggtggaaaacggacgatgtattactaagctggaaaacatggggtttcgagtgggacaaggattgatagaaaggtttacaaaagatactgcaaggttcaaggatgagttagatatcatgaagttcatttgtaaagatttttggactacggtattcaagaaacaaatcgacaatctaaggacaaatcatcagtatttagcatttacgtgtggcttaatcagaggtggcttatcaaacttgggaataaaaagtattgtaacagctgaagtgtcttcaatgcctgcttgcaaatttcaggtgatgatacagaagctgtagaacatactgaaatgcaaggcttcaacagtgtaaagagataaattattcatgtaaaagtatttcaagtagtgatgatttaattacattgttcgatgtttgtacaggagtaagcatgtatttttatcaatttaacacagatcaaaggagatgaagggacattctgccatgacatacacttaaccaaaactattcaaaatgaaaaccggatttcaaataaccagacaccaagatgcagggcccttattttaaacctttttatttggttagagtgatatgtatttagccatagatggagaaacaaagctcagggtttgttgaattagcatgagagaaaattatgtaccaacagaattatttgtgagaagaatgaacaaattttgataaagtatgaatttgttttattttaaaaagcaaacatactaaattttttttattttattgcttataatttattaagaatgtttacacctgtataaggatttcatatatacattgtatgtgtgtatatataaatacatatatgactgcctaaattgtttataaatttaatttttctttaataggtttcattccttcagagctccattaatgtaatcaaaatgaaatatagattagtttaaatgtgaattcagtgactctagggccaaagaatattaggtatgtttggaaagaatttttgtatttattcctgttacagttttgactttcaacttctctccccgtgcatggaagtcctggtaaaggatctaacatctttattcccttctttcctcttccagctgagcagagttggataattgaattagtcattctgacattctttggaccatatcatcttagtggtttggggtcagtgctcatctgatatatctttcttaccacctcttctacttactttctcttacttaaattatctggcataagcagttatctccagcttttgttagaatcttgcatgttgattactaaaactatactttgtttcccatttatttattacccttttgcatgtatttgtgtgacagggaactctgcagcagggggtgactgacacaccaaacaagatgtttcactgggtactctgccatagaaatggcagattaagaagattgactataccaaacattatattaaaaacacaaaataaaaactataaaaatgtactttaggacattaaagaaaactcaagttagaagcataccattttcctttcatggaagggtacagtattacaaagataatttgtttaacttgatttattaaattctagttatgtgccctataatgatgtttcagtcagtgacagacctcatatatggcagtggttccataagattacaatactgtatttttactgtaccttctttatgtttagatatgcaagtacttaccattgtgttacagtgtcctacagtattcactacaataatatgctgtacaggtttgtagcctaggagcaataggccatagcttaggtgtatagtagatcataccatctaggtttgtgtaagtacactctgtgattgtacaattttaaaatctcctaatgatgatgcatttctcagaatgtatcccctttgctaagcaatgcatgactgcaatcctaattctcacatgttttggggaaaaaattttaattttgaaaaaatttaggaaagttcctaccaaatatacatgtataaagtttattaaaagtcataatgacccaggaatagctaatgacacagaagtagatcaaaatagaacacaatagagaacttcaaaataaaacaggtgtgagaattgtgtgtgtgaaaaagctgggttcaaataagttggtttgttagacattcatatgcctacccatcagccatttcgttctcccttccttgctgacaaagccccattttttttttctttttttttggcctaaaactctgtatggctgccttgtgctatagaatagggtgcttccctagcctagagagggtgagtgttgattagattctgtgccaatcatggtaattggcttacttgatcatttgatggaatctaggctaacgagacaaaggaagtctgaaggctttgaataagaaattttctgttgctcttaacaattgatacaagttagggatttgccagcatccctcttctgcttctcagtgaagatatgtgatatggatgtttgaagctaatctgcaacagccttctgatggccatgaaaggacaagtatggagatgaaagctatcacactgagaatagtgggatgtagatagaaagcacctgaattgtgcttctgaattaaccaatccaggaactgctttacctttggactttttgttatgtgagatattctttatattgttccatttgctttgggtatatgtatattgttacttgtagccaaaaagaaacctctcttagtagaaacaaagggagagttaggttattcaaaaattagtatgggacaattgaatatgcctttttctgcgggagtaggtggggagaaacttaaaggttcacttgtaaaacaataaagtactaaagaaaatgtgataaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:122553 -> Biological process: GO:0016192 [vesicle-mediated transport] evidence: IEA
GeneID:122553 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IEA
GeneID:122553 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IEA
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