GGRNA | NM_001145951.1

LOCUS       NM_001145951             569 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens translocase of inner mitochondrial membrane 8 homolog
            A (yeast) (TIMM8A), transcript variant 2, mRNA.
ACCESSION   NM_001145951
VERSION     NM_001145951.1  GI:225543158
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 569)
  AUTHORS   Engl,G., Florian,S., Tranebjaerg,L. and Rapaport,D.
  TITLE     Alterations in expression levels of deafness dystonia protein 1
            affect mitochondrial morphology
  JOURNAL   Hum. Mol. Genet. 21 (2), 287-299 (2012)
   PUBMED   21984432
  REMARK    GeneRIF: knockdown of the TIMM8A gene by RNA interference did not
            show an influence on the oxygen respiration rate and the
            mitochondrial membrane potentia
REFERENCE   2  (bases 1 to 569)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 569)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am. J. Hum. Genet. 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 569)
  AUTHORS   Kim,H.T., Edwards,M.J., Tyson,J., Quinn,N.P., Bitner-Glindzicz,M.
            and Bhatia,K.P.
  TITLE     Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome
            with a novel splice-site mutation in the deafness/dystonia peptide
            gene
  JOURNAL   Mov. Disord. 22 (9), 1328-1331 (2007)
   PUBMED   17534980
  REMARK    GeneRIF: A sporadic 42-year-old man with MTS presenting with
            postlingual deafness, adult-onset progressive dystonia with marked
            arm tremor, mild spasticity of the legs, and visual disturbance due
            to a novel mutation in the DDP1 gene.
REFERENCE   5  (bases 1 to 569)
  AUTHORS   Blesa,J.R., Solano,A., Briones,P., Prieto-Ruiz,J.A.,
            Hernandez-Yago,J. and Coria,F.
  TITLE     Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due
            to a new mutation in the DDP1 gene
  JOURNAL   Neuromolecular Med. 9 (4), 285-291 (2007)
   PUBMED   17999202
  REMARK    GeneRIF: mRNA expression demonstrate increased TIMM8A mRNA levels
            in cultured fibroblasts from a patient with Mohr-Tranebjaerg
            Syndrome.
REFERENCE   6  (bases 1 to 569)
  AUTHORS   Koehler,C.M., Leuenberger,D., Merchant,S., Renold,A., Junne,T. and
            Schatz,G.
  TITLE     Human deafness dystonia syndrome is a mitochondrial disease
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (5), 2141-2146 (1999)
   PUBMED   10051608
REFERENCE   7  (bases 1 to 569)
  AUTHORS   Wallace,D.C. and Murdock,D.G.
  TITLE     Mitochondria and dystonia: the movement disorder connection?
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (5), 1817-1819 (1999)
   PUBMED   10051550
REFERENCE   8  (bases 1 to 569)
  AUTHORS   Jin,H., May,M., Tranebjaerg,L., Kendall,E., Fontan,G., Jackson,J.,
            Subramony,S.H., Arena,F., Lubs,H., Smith,S., Stevenson,R.,
            Schwartz,C. and Vetrie,D.
  TITLE     A novel X-linked gene, DDP, shows mutations in families with
            deafness (DFN-1), dystonia, mental deficiency and blindness
  JOURNAL   Nat. Genet. 14 (2), 177-180 (1996)
   PUBMED   8841189
REFERENCE   9  (bases 1 to 569)
  AUTHORS   Tranebjaerg,L., Schwartz,C., Eriksen,H., Andreasson,S.,
            Ponjavic,V., Dahl,A., Stevenson,R.E., May,M., Arena,F., Barker,D.
            et al.
  TITLE     A new X linked recessive deafness syndrome with blindness,
            dystonia, fractures, and mental deficiency is linked to Xq22
  JOURNAL   J. Med. Genet. 32 (4), 257-263 (1995)
   PUBMED   7643352
REFERENCE   10 (bases 1 to 569)
  AUTHORS   Vorechovsky,I., Vetrie,D., Holland,J., Bentley,D.R., Thomas,K.,
            Zhou,J.N., Notarangelo,L.D., Plebani,A., Fontan,G., Ochs,H.D. et
            al.
  TITLE     Isolation of cosmid and cDNA clones in the region surrounding the
            BTK gene at Xq21.3-q22
  JOURNAL   Genomics 21 (3), 517-524 (1994)
   PUBMED   7959728
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM467820.1 and BQ013177.1.
            
            Summary: This translocase is involved in the import and insertion
            of hydrophobic membrane proteins from the cytoplasm into the
            mitochondrial inner membrane. The gene is mutated in
            Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and
            it is postulated that MTS/DDS is a mitochondrial disease caused by
            a defective mitochondrial protein import system. Defects in this
            gene also cause Jensen syndrome; an X-linked disease with
            opticoacoustic nerve atrophy and muscle weakness. This protein,
            along with TIMM13, forms a 70 kDa heterohexamer. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms.[provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (2) uses an alternate exon for its
            3' terminus, compared to variant 1, which results in an isoform (2)
            with a shorter and distinct C-terminus, compared to isoform 1.
            
            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 :: BM467820.1, BM009184.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025083 [ECO:0000348]
            ##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
            1-543               BM467820.1         1-543
            544-569             BQ013177.1         1-26                c
FEATURES             Location/Qualifiers
     source          1..569
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..569
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="translocase of inner mitochondrial membrane 8
                     homolog A (yeast)"
                     /db_xref="GeneID:1678"
                     /db_xref="HGNC:11817"
                     /db_xref="MIM:300356"
     exon            1..188
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /inference="alignment:Splign:1.39.8"
     CDS             57..203
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="isoform 2 is encoded by transcript variant 2;
                     deafness/dystonia peptide; mitochondrial import inner
                     membrane translocase subunit Tim8 A; deafness dystonia
                     protein 1; X-linked deafness dystonia protein"
                     /codon_start=1
                     /product="mitochondrial import inner membrane translocase
                     subunit Tim8 A isoform 2"
                     /protein_id="NP_001139423.1"
                     /db_xref="GI:225543159"
                     /db_xref="GeneID:1678"
                     /db_xref="HGNC:11817"
                     /db_xref="MIM:300356"
                     /translation="

MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWVPVA

"
     misc_feature    114..>188
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /note="Tim10/DDP family zinc finger; Region: zf-Tim10_DDP;
                     pfam02953"
                     /db_xref="CDD:202484"
     variation       62
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11550891"
     exon            189..552
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
                     /inference="alignment:Splign:1.39.8"
     polyA_site      552
                     /gene="TIMM8A"
                     /gene_synonym="DDP; DDP1; DFN1; MTS; TIM8"
ORIGIN

cggagacacgtgaaggtcggtgcggagttcgtctctgcaagcttggtcgccctgggatggattcctcctcctcttcctccgcggcgggtttgggtgcagtggacccgcagttgcagcatttcatcgaggtagagactcaaaagcagcgcttccagcagctggtgcaccagatgactgaactttgttgggttcctgtggcctagccggatgggagaagggtgactccgcttctctggggactgtcattccggacctcggctttgttggtgtagaggactgggtatcaaagaagacttatgccactggacacccagcactttcaggcacccgaggttgaagctgcctagtgctggtcaccaagactgatcggagcccccagtactgggattttatttttggcagcccgagtcccagagagtcagtgaatcagtgaatctgctattcctggactcctcgggatttaccttcattacccagttctaaccctctccgctgaaaaatgagtggctccagcccagtaactataaaagtggtgtaatctcttccaacgtaaaaaaaaaaaaaaaaaa

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