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2025-05-09 18:33:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001253913 3344 bp mRNA linear PRI 14-JUL-2013
DEFINITION Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
(TBC1D1), transcript variant 3, mRNA.
ACCESSION NM_001253913
VERSION NM_001253913.1 GI:359807042
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 3344)
AUTHORS Yamazaki,K., Umeno,J., Takahashi,A., Hirano,A., Johnson,T.A.,
Kumasaka,N., Morizono,T., Hosono,N., Kawaguchi,T., Takazoe,M.,
Yamada,T., Suzuki,Y., Tanaka,H., Motoya,S., Hosokawa,M.,
Arimura,Y., Shinomura,Y., Matsui,T., Matsumoto,T., Iida,M.,
Tsunoda,T., Nakamura,Y., Kamatani,N. and Kubo,M.
TITLE A genome-wide association study identifies 2 susceptibility Loci
for Crohn's disease in a Japanese population
JOURNAL Gastroenterology 144 (4), 781-788 (2013)
PUBMED 23266558
REFERENCE 2 (bases 1 to 3344)
AUTHORS Pehmoller,C., Brandt,N., Birk,J.B., Hoeg,L.D., Sjoberg,K.A.,
Goodyear,L.J., Kiens,B., Richter,E.A. and Wojtaszewski,J.F.
TITLE Exercise alleviates lipid-induced insulin resistance in human
skeletal muscle-signaling interaction at the level of TBC1 domain
family member 4
JOURNAL Diabetes 61 (11), 2743-2752 (2012)
PUBMED 22851577
REMARK GeneRIF: Data suggest that insulin increases phosphorylation of
signaling nexus TBC1D1 independent of prior exercise or
lipid/Intralipid administration.
REFERENCE 3 (bases 1 to 3344)
AUTHORS Divaris,K., Monda,K.L., North,K.E., Olshan,A.F., Lange,E.M.,
Moss,K., Barros,S.P., Beck,J.D. and Offenbacher,S.
TITLE Genome-wide association study of periodontal pathogen colonization
JOURNAL J. Dent. Res. 91 (7 SUPPL), 21S-28S (2012)
PUBMED 22699663
REFERENCE 4 (bases 1 to 3344)
AUTHORS Jessen,N., An,D., Lihn,A.S., Nygren,J., Hirshman,M.F., Thorell,A.
and Goodyear,L.J.
TITLE Exercise increases TBC1D1 phosphorylation in human skeletal muscle
JOURNAL Am. J. Physiol. Endocrinol. Metab. 301 (1), E164-E171 (2011)
PUBMED 21505148
REMARK GeneRIF: A single bout of exercise regulates TBC1D1 and AS160
phosphorylation on multiple sites in human skeletal muscle.
REFERENCE 5 (bases 1 to 3344)
AUTHORS Park,S.Y., Jin,W., Woo,J.R. and Shoelson,S.E.
TITLE Crystal structures of human TBC1D1 and TBC1D4 (AS160)
RabGTPase-activating protein (RabGAP) domains reveal critical
elements for GLUT4 translocation
JOURNAL J. Biol. Chem. 286 (20), 18130-18138 (2011)
PUBMED 21454505
REMARK GeneRIF: Crystal structures of human TBC1D1 and TBC1D4 (AS160)
RabGTPase-activating protein (RabGAP) domains reveal critical
elements for GLUT4 translocation.
REFERENCE 6 (bases 1 to 3344)
AUTHORS Chavez,J.A., Roach,W.G., Keller,S.R., Lane,W.S. and Lienhard,G.E.
TITLE Inhibition of GLUT4 translocation by Tbc1d1, a Rab
GTPase-activating protein abundant in skeletal muscle, is partially
relieved by AMP-activated protein kinase activation
JOURNAL J. Biol. Chem. 283 (14), 9187-9195 (2008)
PUBMED 18258599
REFERENCE 7 (bases 1 to 3344)
AUTHORS Roach,W.G., Chavez,J.A., Miinea,C.P. and Lienhard,G.E.
TITLE Substrate specificity and effect on GLUT4 translocation of the Rab
GTPase-activating protein Tbc1d1
JOURNAL Biochem. J. 403 (2), 353-358 (2007)
PUBMED 17274760
REMARK GeneRIF: form of Tbc1d1 also inhibited GLUT4 translocation and that
this effect also required a functional GAP domain
REFERENCE 8 (bases 1 to 3344)
AUTHORS Stone,S., Abkevich,V., Russell,D.L., Riley,R., Timms,K., Tran,T.,
Trem,D., Frank,D., Jammulapati,S., Neff,C.D., Iliev,D., Gress,R.,
He,G., Frech,G.C., Adams,T.D., Skolnick,M.H., Lanchbury,J.S.,
Gutin,A., Hunt,S.C. and Shattuck,D.
TITLE TBC1D1 is a candidate for a severe obesity gene and evidence for a
gene/gene interaction in obesity predisposition
JOURNAL Hum. Mol. Genet. 15 (18), 2709-2720 (2006)
PUBMED 16893906
REMARK GeneRIF: coding variant R125W affects obesity susceptibility,
delimits the location of an obesity gene at 4q34-35 and identifies
a gene/gene interaction that influences the risk for obesity
predisposition
REFERENCE 9 (bases 1 to 3344)
AUTHORS Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
TITLE Immunoaffinity profiling of tyrosine phosphorylation in cancer
cells
JOURNAL Nat. Biotechnol. 23 (1), 94-101 (2005)
PUBMED 15592455
REFERENCE 10 (bases 1 to 3344)
AUTHORS White,R.A., Pasztor,L.M., Richardson,P.M. and Zon,L.I.
TITLE The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene,
BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4
JOURNAL Cytogenet. Cell Genet. 89 (3-4), 272-275 (2000)
PUBMED 10965142
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AK057182.1, AC108933.3, AW364769.1, CR996632.1 and AK074954.1.
Summary: TBC1D1 is the founding member of a family of proteins
sharing a 180- to 200-amino acid TBC domain presumed to have a role
in regulating cell growth and differentiation. These proteins share
significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and
CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied
by OMIM, Mar 2008].
Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
large portion of the 5' coding region and initiates translation at
a downstream, in-frame start codon, compared to variant 1. Variants
3 and 4 encode the same isoform (3), which has a significantly
shorter N-terminus, compared to isoform 1.
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.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK057182.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-331 AK057182.1 1-331
332-332 AC108933.3 83656-83656
333-1251 AK057182.1 333-1251
1252-1400 AW364769.1 119-267
1401-1956 CR996632.1 79-634
1957-3344 AK074954.1 1602-2989
FEATURES Location/Qualifiers
source 1..3344
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4p14"
gene 1..3344
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="TBC1 (tre-2/USP6, BUB2, cdc16) domain family,
member 1"
/db_xref="GeneID:23216"
/db_xref="HGNC:11578"
/db_xref="MIM:609850"
exon 1..554
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 6
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:73134642"
variation 61
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146708685"
variation 67
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:140281559"
variation 257
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111841013"
variation 288
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145249450"
variation 311
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137858930"
variation 345
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:73134643"
variation 496
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149225039"
misc_feature 527..529
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="upstream in-frame stop codon"
exon 555..799
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 574
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369492733"
variation 644
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:372955287"
CDS 707..1504
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="isoform 3 is encoded by transcript variant 3; TBC1
domain family member 1"
/codon_start=1
/product="TBC1 domain family member 1 isoform 3"
/protein_id="NP_001240842.1"
/db_xref="GI:359807043"
/db_xref="GeneID:23216"
/db_xref="HGNC:11578"
/db_xref="MIM:609850"
/translation="
MSEEEAFKMLKFLMFDMGLRKQYRPDMIILQIQMYQLSRLLHDYHRDLYNHLEEHEIGPSLYAAPWFLTMFASQFPLGFVARVFDMIFLQGTEVIFKVALSLLGSHKPLILQHENLETIVDFIKSTLPNLGLVQMEKTINQVFEMDIAKQLQAYEVEYHVLQEELIDSSPLSDNQRMDKLEKTNSSLRKQNLDLLEQLQVANGRIQSLEATIEKLLSSESKLKQAMLTLELERSALLQTVEELRRRSAEPSDREPECTQPEPTGD
"
misc_feature <710..1039
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="Domain in Tre-2, BUB2p, and Cdc16p. Probable
Rab-GAPs; Region: TBC; smart00164"
/db_xref="CDD:197550"
variation 707
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139639988"
variation 761
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190882933"
variation 772
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369737635"
exon 800..959
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 874
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:369138939"
variation 899
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200460442"
variation 902
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:78153714"
variation 914
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201262200"
variation 928
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:144280377"
variation 944
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150619808"
variation 959
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:374399526"
exon 960..1129
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 996
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:149746733"
variation 1032
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:191311030"
variation 1083
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145666066"
variation 1084
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374150933"
exon 1130..1303
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 1147
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:185429602"
variation 1206
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141434035"
variation 1261
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200211276"
variation 1267
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145258995"
variation 1269
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376683121"
exon 1304..3344
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 1307
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147610055"
variation 1314
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199769631"
variation 1387
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:142082982"
variation 1404
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:13110318"
variation 1422
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:151143743"
variation 1423
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375379532"
variation 1428
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:140049928"
variation 1437
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150295101"
variation 1443
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138981524"
variation 1463
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142224285"
variation 1464
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145834587"
variation 1494
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375094591"
variation 1532
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:180778179"
variation 1572
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:9852"
variation 1573
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:187612705"
STS 1604..1775
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="D4S2507E"
/db_xref="UniSTS:28882"
variation 1606
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:190339487"
variation 1622
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:182167537"
STS 1635..1784
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="SHGC-59210"
/db_xref="UniSTS:27409"
variation 1673
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:12644032"
variation 1683..1684
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="t"
/db_xref="dbSNP:140473695"
variation 1684..1685
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="t"
/db_xref="dbSNP:71751139"
variation 1693
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2882"
variation 1695
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:15275"
variation 1706
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:15276"
variation 1758
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:186099739"
variation 1850
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:190469420"
variation 1852
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:181354169"
variation 1870
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:185625994"
variation 1885
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:16994264"
variation 1929
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:75695278"
variation 2035
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:368725051"
variation 2054
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148588413"
variation 2099
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11941514"
variation 2124
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:191175689"
variation 2300..2301
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="a"
/db_xref="dbSNP:368675910"
variation 2334
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:75566567"
variation 2445
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143013479"
variation 2461
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182546614"
variation 2532
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375227250"
variation 2590
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:189248409"
variation 2629..2630
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="a"
/db_xref="dbSNP:371391694"
variation 2630
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="a"
/db_xref="dbSNP:11330073"
variation 2671
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:368299523"
variation 2709
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:62297301"
variation 2724
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371752989"
variation 2756
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:78069747"
variation 2906
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140112639"
variation 2910
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143776110"
variation 2911
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:16994266"
variation 2953
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:199682170"
variation 2953
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="g"
/db_xref="dbSNP:3839162"
STS 3050..3260
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="WI-22198"
/db_xref="UniSTS:12477"
STS 3052..3174
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="RH47722"
/db_xref="UniSTS:67692"
variation 3054
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:191975309"
STS 3064..3158
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="D4S2540E"
/db_xref="UniSTS:150969"
variation 3081
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146830672"
variation 3125
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374944172"
variation 3144
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:77368662"
variation 3189
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:77698656"
variation 3265
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371533159"
ORIGIN
agatgggctctgaatagaggaaggcaggacactcttgagatgggatggggtttctcacagcaccgtacagggaccacctgcaagatctcttgaggggcttgtgaaaaacacatccctgaggtcaccattcttgacctgctgcttattgagtttctgatgcctgggatgtgcaggtttaacaagcccccagatgatcctaataggattcctgcctgaaaattgctgggtgaaggctcttccccctccaagtgataaagaaggaaaagattgatcctggaagaacatccgttagatgagcaaaattttgtggagcacttcatgaagaggaattactaggtcatttagaaatatgtttgaattgtggatcatcttgtaggcctttctggcatatttctccacttagatccacaagacacatcgaatgtctttttataaaggggttttttaatgcccatgtttgaccctctccacttaacagtcccattctcattttatatgtgaaggtaatctgctttacagaaaaatgtaaaggacctgcacttctctgctttgtgggcgaacctttcctacacacccatacttctctgcccagcttggagcaggacagctatcgctttacaacattttgaaggcctactcacttctagaccaggaagtgggatattgccaaggtctcagctttgtagcaggcattttgcttcttcatatgagtgaggaagaggcgtttaaaatgctcaagtttctgatgtttgacatggggctgcggaaacagtatcggccagacatgattattttacagatccagatgtaccagctctcgaggttgcttcatgattaccacagagacctctacaatcacctggaggagcacgagatcggccccagcctctacgctgccccctggttcctcaccatgtttgcctcacagttcccgctgggattcgtagccagagtctttgatatgatttttcttcagggaacagaggtcatatttaaagtggctttaagtctgttgggaagccataagcccttgattctgcagcatgaaaacctagaaaccatagttgactttataaaaagcacgctacccaaccttggcttggtacagatggaaaagaccatcaatcaggtatttgaaatggacatcgctaaacagttacaagcttatgaagttgagtaccacgtccttcaagaagaacttatcgattcctctcctctcagtgacaaccaaagaatggataaattagagaaaaccaacagcagcttacgcaaacagaaccttgacctccttgaacagttgcaggtggcaaatggtaggatccaaagccttgaggccaccattgagaagctcctgagcagtgagagcaagctgaagcaggccatgcttaccttagaactggagcggtcggccctgctgcagacggtggaggagctgcggcggcggagcgcagagcccagcgaccgggagcctgagtgcacgcagcccgagcccacgggcgactgacagctctgcaggagagattgcaacaccatcccacactgtccaggccttaactgagagggacagaagacgctggaaggagagaaggaagcgggaagtgtgcttctcagggaggaaaccggcttgccagcaagtagattcttacgaactccaacttgcaattcagggggcatgtcccagtgttttttttgttgtttttagatactaaatcgtcccttctccagtcctgattactgtacacagtagctttagatggcgtggacgtgaataaatgcaacttatgttttcttgttggttcctttttgagtgtcactgtgtttgtaaagagcattcacaatacggtggaatttcaaaagctggaagagctcgagatcatgcctcaggcaaaggcgtgggtccatcgttcttccgagagggtttgtgtggcgactacaccctcagcgtccctggcaaggtgcagttggctctcgcccattcttgttatggaaacctaagatgatcattgggaagatcagtgatcttgggtcattgatccctggctcagaggatagcggtttccatcataaaccaagatgatgagttcagcctttatccctcgtggttccactagatgtaacttaaaggagttaacatttgaggactttgttctacatcagattttactatttgaatgtttaagatcactttattgaatttgaagatcatcaaattaaataaaatgatttatttaatttggatatcctgatcactgtcaagtgaaatggatctctctctttggtatttaaggaagtttgtctttaaaaaaaaaatagagtgttttcatacatttttgcttatcccataagtacagttgatcaaagtcatagtaggtaaatgctttatgggacagctgacaccttttagaccctaccaggtattgctagcatgtgagctgcagttgtggggtctgagatatttctttgtggtagtttcatacccatactatagagtcatgtatttatttttgcctgttgtgtgatgtaatgcaatcatgttcctttgagtctccatcccttggaaatctgacttcttgcagaaggagtaggcacatcaagatattcaggggtgccccaagagtctgggactttcaaaaaaaaaagatcaggctgaaactgcagtcagatttatgacagctgacagtttttcagaggtcgcacacagtgactctcctctctcaggatgacgaggacctgtgccttcaacaagcaaaatgctgctcacggttgtcctgcttgcagccagtcactgtgtaaagcctctctgatgtgcacttaagagtgggttgctttctcacaaagatggggttctgtgcagtcacaggtcacttccttgacaacacaatcatttctgatctttatcactgtaaccacgtcttctattccataggagtttcttttgattctctcagttgcggggggcatctcttaatcctggggtaaaaggagagattgccatacttagactcactgtgagtctccccggccatttcacgaggagaccacagtgctgccaccagtgcctaaacaggtggctggcattcgagacttcctcctgttccctgggtcagaggatagcggtttccatcataaaccaagatgatgagttcagcctttatccctcgtggttccgctagatgtaacttataggagttaacatttgaggactttgttctgcatcagatcttactatttgaatgtttactgttggattttgggcatcttattactgttactcaaaaacattgactctgcatcaagaaagaaacaagaaagcaataaaacaagaaataattcatgctcacatt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:23216 -> Molecular function: GO:0005097 [Rab GTPase activator activity] evidence: IEA
GeneID:23216 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
GeneID:23216 -> Biological process: GO:0032880 [regulation of protein localization] evidence: IEA
GeneID:23216 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
GeneID:23216 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
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