Home |
Help |
Advanced search
2024-04-25 04:14:45, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001636 1502 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens solute carrier family 25 (mitochondrial carrier;
adenine nucleotide translocator), member 6 (SLC25A6), mRNA.
ACCESSION NM_001636
VERSION NM_001636.3 GI:258547138
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 1502)
AUTHORS Danishuddin,M., Khan,S.N. and Khan,A.U.
TITLE Molecular interactions between mitochondrial membrane proteins and
the C-terminal domain of PB1-F2: an in silico approach
JOURNAL J Mol Model 16 (3), 535-541 (2010)
PUBMED 19669810
REMARK GeneRIF: The dynamics of the molecular interactions between the
C-terminal region of PB1-F2 protein and VDAC1 and ANT3 were
expounded by employing an in silico approach.
REFERENCE 2 (bases 1 to 1502)
AUTHORS Hu,Z., Guo,X., Yu,Q., Qiu,L., Li,J., Ying,K., Guo,C. and Zhang,J.
TITLE Down-regulation of adenine nucleotide translocase 3 and its role in
camptothecin-induced apoptosis in human hepatoma QGY7703 cells
JOURNAL FEBS Lett. 583 (2), 383-388 (2009)
PUBMED 19111545
REMARK GeneRIF: These data suggest that the down-regulation of ANT3 levels
upon stimulation with CPT may be involved in the molecular
mechanism underlying acquired resistance to camptothecin.
REFERENCE 3 (bases 1 to 1502)
AUTHORS Yang,Z., Cheng,W., Hong,L., Chen,W., Wang,Y., Lin,S., Han,J.,
Zhou,H. and Gu,J.
TITLE Adenine nucleotide (ADP/ATP) translocase 3 participates in the
tumor necrosis factor induced apoptosis of MCF-7 cells
JOURNAL Mol. Biol. Cell 18 (11), 4681-4689 (2007)
PUBMED 17855512
REMARK GeneRIF: involvement of ANT in cell death is cell type- and
stimulus-dependent
REFERENCE 4 (bases 1 to 1502)
AUTHORS Tu,L.C., Yan,X., Hood,L. and Lin,B.
TITLE Proteomics analysis of the interactome of N-myc downstream
regulated gene 1 and its interactions with the androgen response
program in prostate cancer cells
JOURNAL Mol. Cell Proteomics 6 (4), 575-588 (2007)
PUBMED 17220478
REFERENCE 5 (bases 1 to 1502)
AUTHORS Jang,J.Y. and Lee,C.E.
TITLE IL-4-induced upregulation of adenine nucleotide translocase 3 and
its role in Th cell survival from apoptosis
JOURNAL Cell. Immunol. 241 (1), 14-25 (2006)
PUBMED 16930576
REMARK GeneRIF: ANT3 has a potential role in T-helper cell survival and
immune cell homeostasis.
REFERENCE 6 (bases 1 to 1502)
AUTHORS Slim,R., Levilliers,J., Ludecke,H.J., Claussen,U., Nguyen,V.C.,
Gough,N.M., Horsthemke,B. and Petit,C.
TITLE A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase
and escapes X-inactivation
JOURNAL Genomics 16 (1), 26-33 (1993)
PUBMED 8486369
REFERENCE 7 (bases 1 to 1502)
AUTHORS Schiebel,K., Weiss,B., Wohrle,D. and Rappold,G.
TITLE A human pseudoautosomal gene, ADP/ATP translocase, escapes
X-inactivation whereas a homologue on Xq is subject to
X-inactivation
JOURNAL Nat. Genet. 3 (1), 82-87 (1993)
PUBMED 8490661
REFERENCE 8 (bases 1 to 1502)
AUTHORS Cozens,A.L., Runswick,M.J. and Walker,J.E.
TITLE DNA sequences of two expressed nuclear genes for human
mitochondrial ADP/ATP translocase
JOURNAL J. Mol. Biol. 206 (2), 261-280 (1989)
PUBMED 2541251
REFERENCE 9 (bases 1 to 1502)
AUTHORS Houldsworth,J. and Attardi,G.
TITLE Two distinct genes for ADP/ATP translocase are expressed at the
mRNA level in adult human liver
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 85 (2), 377-381 (1988)
PUBMED 2829183
REFERENCE 10 (bases 1 to 1502)
AUTHORS Neckelmann,N., Li,K., Wade,R.P., Shuster,R. and Wallace,D.C.
TITLE cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack
of a leader peptide, divergence from a fibroblast translocator
cDNA, and coevolution with mitochondrial DNA genes
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 84 (21), 7580-7584 (1987)
PUBMED 2823266
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CB150341.1, BC007850.2 and
BC014775.1.
This sequence is a reference standard in the RefSeqGene project.
On Sep 15, 2009 this sequence version replaced gi:156071461.
Summary: This gene is a member of the mitochondrial carrier
subfamily of solute carrier protein genes. The product of this gene
functions as a gated pore that translocates ADP from the cytoplasm
into the mitochondrial matrix and ATP from the mitochondrial matrix
into the cytoplasm. The protein is implicated in the function of
the permability transition pore complex (PTPC), which regulates the
release of mitochondrial products that induce apoptosis. The human
genome contains several non-transcribed pseudogenes of this gene.
[provided by RefSeq, Jun 2013].
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 :: BC014775.1, BC008737.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-46 CB150341.1 1-46
47-1386 BC007850.2 1-1340
1387-1502 BC014775.1 1340-1455
FEATURES Location/Qualifiers
source 1..1502
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/chromosome="Y"
/map="Xp22.32 and Yp11.3"
gene 1..1502
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/note="solute carrier family 25 (mitochondrial carrier;
adenine nucleotide translocator), member 6"
/db_xref="GeneID:293"
/db_xref="HGNC:10992"
/db_xref="MIM:300151"
/db_xref="MIM:403000"
exon 1..248
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="alignment:Splign:1.39.8"
misc_feature 60..62
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/note="upstream in-frame stop codon"
variation 68
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:11550235"
variation 103..104
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:11550239"
CDS 138..1034
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/note="ADP/ATP translocator of liver; ADP,ATP carrier
protein, liver; adenine nucleotide translocator 3; ANT 2;
ANT 3; ADP,ATP carrier protein 3; solute carrier family 25
member 6; ADP,ATP carrier protein, isoform T2"
/codon_start=1
/product="ADP/ATP translocase 3"
/protein_id="NP_001627.2"
/db_xref="GI:156071462"
/db_xref="CCDS:CCDS14114.1"
/db_xref="GeneID:293"
/db_xref="HGNC:10992"
/db_xref="MIM:300151"
/db_xref="MIM:403000"
/translation="
MTEQAISFAKDFLAGGIAAAISKTAVAPIERVKLLLQVQHASKQIAADKQYKGIVDCIVRIPKEQGVLSFWRGNLANVIRYFPTQALNFAFKDKYKQIFLGGVDKHTQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKSGTEREFRGLGDCLVKITKSDGIRGLYQGFSVSVQGIIIYRAAYFGVYDTAKGMLPDPKNTHIVVSWMIAQTVTAVAGVVSYPFDTVRRRMMMQSGRKGADIMYTGTVDCWRKIFRDEGGKAFFKGAWSNVLRGMGGAFVLVLYDELKKVI
"
misc_feature 141..143
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylthreonine; propagated from
UniProtKB/Swiss-Prot (P12236.4); acetylation site"
misc_feature 144..1031
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/note="ADP/ATP transporter on adenylate translocase;
Provisional; Region: PTZ00169"
/db_xref="CDD:173456"
misc_feature 147..440
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/note="Mitochondrial carrier protein; Region: Mito_carr;
pfam00153"
/db_xref="CDD:201040"
misc_feature 150..254
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
transmembrane region"
misc_feature 153..431
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
Region: Solcar 1"
misc_feature 204..206
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (P12236.4); acetylation site"
misc_feature 360..437
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
transmembrane region"
misc_feature 450..452
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (P12236.4); acetylation site"
misc_feature 462..566
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
transmembrane region"
misc_feature 468..740
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
Region: Solcar 2"
misc_feature 513..755
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/note="Mitochondrial carrier protein; Region: Mito_carr;
pfam00153"
/db_xref="CDD:201040"
misc_feature 663..743
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
transmembrane region"
misc_feature 756..860
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
transmembrane region"
misc_feature 762..1031
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/note="Mitochondrial carrier protein; Region: Mito_carr;
pfam00153"
/db_xref="CDD:201040"
misc_feature 771..1028
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
Region: Solcar 3"
misc_feature 840..857
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
Region: Substrate recognition (By similarity)"
misc_feature 939..941
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (P12236.4); acetylation site"
misc_feature 954..1031
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P12236.4);
transmembrane region"
STS 143..293
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/standard_name="D9S1056E"
/db_xref="UniSTS:151273"
STS 151..247
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/standard_name="D13S873E"
/db_xref="UniSTS:151536"
variation 203
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:11550234"
variation 213
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:11550238"
exon 249..735
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="alignment:Splign:1.39.8"
variation 286
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:14005"
variation 290
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:11550228"
variation 336
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="g"
/replace="t"
/db_xref="dbSNP:1135434"
variation 362
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="g"
/replace="t"
/db_xref="dbSNP:11550233"
variation 404
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:1143655"
variation 474
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:11550227"
variation 503
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:11550232"
variation 512
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:17848744"
variation 545
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:7205"
variation 639
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:11550226"
variation 652..653
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="g"
/db_xref="dbSNP:11550231"
exon 736..876
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="alignment:Splign:1.39.8"
exon 877..1484
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/inference="alignment:Splign:1.39.8"
variation 984
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="g"
/replace="t"
/db_xref="dbSNP:11550225"
STS 1024..1239
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/standard_name="RH79891"
/db_xref="UniSTS:85411"
variation 1031
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1141628"
variation 1059
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:11211819"
variation 1139
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:1136508"
variation 1143
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:1141788"
STS 1151..1333
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/standard_name="RH74927"
/db_xref="UniSTS:92663"
STS 1154..1297
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/standard_name="GDB:191420"
/db_xref="UniSTS:155649"
variation 1232
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:1071734"
variation 1296
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:17848753"
variation 1309
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:1141789"
variation 1342
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:1071749"
variation 1365
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:11536"
polyA_site 1386
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
variation 1436
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:1136810"
polyA_signal 1462..1467
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
polyA_site 1484
/gene="SLC25A6"
/gene_synonym="AAC3; ANT3; ANT3Y"
ORIGIN
ggcgtcttagcggctgcgcggtggctgctccgtcctttcggtccaggcggcggcagggctgagccagcgacgccctccattcactctccgcgcccgttctccggctgtcctcccgttccgctgcccgccctgccaccatgacggaacaggccatctccttcgccaaagacttcttggccggaggcatcgccgccgccatctccaagacggccgtggctccgatcgagcgggtcaagctgctgctgcaggtccagcacgccagcaagcagatcgccgccgacaagcagtacaagggcatcgtggactgcattgtccgcatccccaaggagcagggcgtgctgtccttctggaggggcaaccttgccaacgtcattcgctacttccccactcaagccctcaacttcgccttcaaggataagtacaagcagatcttcctggggggcgtggacaagcacacgcagttctggaggtactttgcgggcaacctggcctccggcggtgcggccggcgcgacctccctctgcttcgtgtacccgctggatttcgccagaacccgcctggcagcggacgtgggaaagtcaggcacagagcgcgagttccgaggcctgggagactgcctggtgaagatcaccaagtccgacggcatccggggcctgtaccagggcttcagtgtctccgtgcagggcatcatcatctaccgggcggcctacttcggcgtgtacgatacggccaagggcatgctccccgaccccaagaacacgcacatcgtggtgagctggatgatcgcgcagaccgtgacggccgtggccggcgtggtgtcctaccccttcgacacggtgcggcggcgcatgatgatgcagtccgggcgcaaaggagctgacatcatgtacacgggcaccgtcgactgttggaggaagatcttcagagatgaggggggcaaggccttcttcaagggtgcgtggtccaacgtcctgcggggcatggggggcgccttcgtgctggtcctgtacgacgagctcaagaaggtgatctaagggccgcggcctcctccacacacacacacacaccaggggaaccaagagaaccacgtagaatcctcaaccgtgcggaccatcaaccttcgagaaattccagttgtctttttcccagccgcatcctgcctgtagatggccggggaaggctctagaaaaggggcgcattgcgatccaaccatcggcagccgattccgtgtcttgatcacggggtgggagggaaccgtggcgtccctgcgtggggcccatgggtgagacactccagtactgagacctagagtccagatgcttgtaggagccaagtcgtgttctaagtatttatttaaaacaaaagaatcacgttttcccatttgtacttcagcgctagcccctgttttgcacagccgagtactggcgagtatgttctatgttgggcctcctgctgcaaaacaataaacagaggacgcagaggtcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:293 -> Molecular function: GO:0005471 [ATP:ADP antiporter activity] evidence: NAS
GeneID:293 -> Biological process: GO:0006112 [energy reserve metabolic process] evidence: TAS
GeneID:293 -> Biological process: GO:0006626 [protein targeting to mitochondrion] evidence: TAS
GeneID:293 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:293 -> Biological process: GO:0016032 [viral process] evidence: TAS
GeneID:293 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: TAS
GeneID:293 -> Biological process: GO:0019058 [viral infectious cycle] evidence: TAS
GeneID:293 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS
GeneID:293 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:293 -> Biological process: GO:0046732 [active induction of host immune response by virus] evidence: TAS
GeneID:293 -> Biological process: GO:0050796 [regulation of insulin secretion] evidence: TAS
GeneID:293 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: TAS
GeneID:293 -> Cellular component: GO:0005744 [mitochondrial inner membrane presequence translocase complex] evidence: TAS
GeneID:293 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.