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2024-05-09 00:13:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032593 652 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens histidine triad nucleotide binding protein 2 (HINT2),
mRNA.
ACCESSION NM_032593
VERSION NM_032593.2 GI:49574527
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 652)
AUTHORS Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
TITLE Genetic variants in nuclear-encoded mitochondrial genes influence
AIDS progression
JOURNAL PLoS ONE 5 (9), E12862 (2010)
PUBMED 20877624
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 652)
AUTHORS Lenglet,S., Antigny,F., Vetterli,L., Dufour,J.F. and Rossier,M.F.
TITLE Hint2 is expressed in the mitochondria of H295R cells and is
involved in steroidogenesis
JOURNAL Endocrinology 149 (11), 5461-5469 (2008)
PUBMED 18653718
REMARK GeneRIF: Hint2 is required for an optimal steroidogenic response,
possibly because of a particular signalling function exerted within
the mitochondria.
REFERENCE 3 (bases 1 to 652)
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 4 (bases 1 to 652)
AUTHORS Martin,J., Magnino,F., Schmidt,K., Piguet,A.C., Lee,J.S.,
Semela,D., St-Pierre,M.V., Ziemiecki,A., Cassio,D., Brenner,C.,
Thorgeirsson,S.S. and Dufour,J.F.
TITLE Hint2, a mitochondrial apoptotic sensitizer down-regulated in
hepatocellular carcinoma
JOURNAL Gastroenterology 130 (7), 2179-2188 (2006)
PUBMED 16762638
REFERENCE 5 (bases 1 to 652)
AUTHORS Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
Kim,N.S.
TITLE Transcriptome analysis of human gastric cancer
JOURNAL Mamm. Genome 16 (12), 942-954 (2005)
PUBMED 16341674
REFERENCE 6 (bases 1 to 652)
AUTHORS Brenner,C.
TITLE Hint, Fhit, and GalT: function, structure, evolution, and mechanism
of three branches of the histidine triad superfamily of nucleotide
hydrolases and transferases
JOURNAL Biochemistry 41 (29), 9003-9014 (2002)
PUBMED 12119013
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BI759951.1, BM764627.1 and BC047737.2.
On Jul 1, 2004 this sequence version replaced gi:14211922.
Summary: Histidine triad proteins, such as HINT2, are nucleotide
hydrolases and transferases that act on the alpha-phosphate of
ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by
OMIM, Mar 2008].
##Evidence-Data-START##
Transcript exon combination :: BC047737.2, DN994618.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-12 BI759951.1 1-12
13-644 BM764627.1 10-641
645-652 BC047737.2 621-628
FEATURES Location/Qualifiers
source 1..652
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9p13.3"
gene 1..652
/gene="HINT2"
/gene_synonym="HIT-17"
/note="histidine triad nucleotide binding protein 2"
/db_xref="GeneID:84681"
/db_xref="HGNC:18344"
/db_xref="HPRD:17106"
/db_xref="MIM:609997"
exon 1..147
/gene="HINT2"
/gene_synonym="HIT-17"
/inference="alignment:Splign:1.39.8"
variation complement(1)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="t"
/db_xref="dbSNP:192948763"
CDS 67..558
/gene="HINT2"
/gene_synonym="HIT-17"
/note="PKCI-1-related HIT protein; histidine triad
nucleotide-binding protein 2, mitochondrial; protein
kinase C inhibitor-2; HINT-2; HINT-3; HIT-17kDa"
/codon_start=1
/product="histidine triad nucleotide-binding protein 2,
mitochondrial precursor"
/protein_id="NP_115982.1"
/db_xref="GI:14211923"
/db_xref="CCDS:CCDS6594.1"
/db_xref="GeneID:84681"
/db_xref="HGNC:18344"
/db_xref="HPRD:17106"
/db_xref="MIM:609997"
/translation="
MAAAVVLAAGLRAARRAVAATGVRGGQVRGAAGVTDGNEVAKAQQATPGGAAPTIFSRILDKSLPADILYEDQQCLVFRDVAPQAPVHFLVIPKKPIPRISQAEEEDQQLLGHLLLVAKQTAKAEGLGDGYRLVINDGKLGAQSVYHLHIHVLGGRQLQWPPG
"
transit_peptide 67..117
/gene="HINT2"
/gene_synonym="HIT-17"
/inference="non-experimental evidence, no additional
details recorded"
/note="Mitochondrion (Potential); propagated from
UniProtKB/Swiss-Prot (Q9BX68.1)"
mat_peptide 118..555
/gene="HINT2"
/gene_synonym="HIT-17"
/product="Histidine triad nucleotide-binding protein 2,
mitochondrial"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BX68.1)"
misc_feature 223..531
/gene="HINT2"
/gene_synonym="HIT-17"
/note="Protein Kinase C Interacting protein related
(PKCI): PKCI and related proteins belong to the ubiquitous
HIT family of hydrolases that act on alpha-phosphates of
ribonucleotides. The members of this subgroup have a
conserved HxHxHxx motif (x is a...; Region: PKCI_related;
cd01276"
/db_xref="CDD:29589"
misc_feature order(298..300,304..309,328..330,334..336,472..474,
493..495,499..501,511..513,517..519)
/gene="HINT2"
/gene_synonym="HIT-17"
/note="nucleotide binding site/active site [active]"
/db_xref="CDD:29589"
misc_feature order(505..507,511..513,517..525)
/gene="HINT2"
/gene_synonym="HIT-17"
/note="HIT family signature motif; other site"
/db_xref="CDD:29589"
misc_feature 505..519
/gene="HINT2"
/gene_synonym="HIT-17"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BX68.1);
Region: Histidine triad motif"
misc_feature 511..513
/gene="HINT2"
/gene_synonym="HIT-17"
/note="catalytic residue [active]"
/db_xref="CDD:29589"
variation complement(87)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="a"
/replace="g"
/db_xref="dbSNP:375867774"
exon 148..288
/gene="HINT2"
/gene_synonym="HIT-17"
/inference="alignment:Splign:1.39.8"
variation complement(164)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="g"
/db_xref="dbSNP:374552485"
variation complement(170)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="t"
/db_xref="dbSNP:150427900"
variation complement(255)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="g"
/db_xref="dbSNP:370925110"
variation complement(276)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="t"
/db_xref="dbSNP:372054295"
variation complement(282)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="t"
/db_xref="dbSNP:375741199"
exon 289..393
/gene="HINT2"
/gene_synonym="HIT-17"
/inference="alignment:Splign:1.39.8"
variation complement(314)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:140465805"
variation complement(318)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="a"
/replace="g"
/db_xref="dbSNP:151236442"
variation complement(352)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="a"
/replace="c"
/db_xref="dbSNP:376617682"
variation complement(361)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="t"
/db_xref="dbSNP:373351975"
variation complement(384)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="a"
/replace="c"
/db_xref="dbSNP:145309300"
variation complement(388)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="a"
/replace="c"
/db_xref="dbSNP:78267433"
exon 394..466
/gene="HINT2"
/gene_synonym="HIT-17"
/inference="alignment:Splign:1.39.8"
exon 467..652
/gene="HINT2"
/gene_synonym="HIT-17"
/inference="alignment:Splign:1.39.8"
STS 469..583
/gene="HINT2"
/gene_synonym="HIT-17"
/standard_name="RH41893"
/db_xref="UniSTS:18104"
variation complement(474)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="t"
/db_xref="dbSNP:141405696"
variation complement(475)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="a"
/replace="g"
/db_xref="dbSNP:371856545"
variation complement(533)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="a"
/replace="g"
/db_xref="dbSNP:147846916"
variation complement(537)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="g"
/db_xref="dbSNP:200939375"
variation complement(563)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="g"
/replace="t"
/db_xref="dbSNP:202048370"
variation complement(574)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="a"
/replace="g"
/db_xref="dbSNP:375484899"
variation complement(587)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="t"
/db_xref="dbSNP:370355998"
variation complement(590)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="t"
/db_xref="dbSNP:144933685"
variation complement(644)
/gene="HINT2"
/gene_synonym="HIT-17"
/replace="c"
/replace="t"
/db_xref="dbSNP:117628518"
ORIGIN
cccacccacggccggccgcggagccgagtgctgacccgggtgagaggttcccgcggctcagggaagatggcggcagccgtggtgctggctgctgggttgcgcgcggcgcgcagagccgtggcggccacgggggtgcgcggggggcaggtccgaggagctgcaggtgtgactgatgggaatgaagtggccaaggcccagcaggcaactcctgggggagcagccccaaccatcttctcccggatcctggacaagagcctcccagctgacattctctatgaggaccagcagtgtcttgtgttccgtgatgtggcccctcaggctcctgtgcacttcctggtcattcctaagaagcccattcctcggattagccaggctgaagaagaagaccagcagcttctaggacacctactccttgtggccaagcagacagcaaaggctgagggcctgggagatggataccgacttgtgatcaacgatgggaagctgggtgcacaatctgtgtatcatctgcacattcatgtacttgggggccggcagctccagtggcctccaggttgaacctgccaactgattaaaggacaccagactctggatgcttggatggaaagggaaaaatggaccctgtgatgctaataaaactgttctcccttaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:84681 -> Molecular function: GO:0000166 [nucleotide binding] evidence: IEA
GeneID:84681 -> Molecular function: GO:0016787 [hydrolase activity] evidence: IEA
GeneID:84681 -> Biological process: GO:0006694 [steroid biosynthetic process] evidence: IEA
GeneID:84681 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:84681 -> Cellular component: GO:0005739 [mitochondrion] evidence: ISS
by
@meso_cacase at
DBCLS
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