LOCUS       NM_030923               1892 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 163 (TMEM163), mRNA.
ACCESSION   NM_030923
VERSION     NM_030923.5
KEYWORDS    RefSeq; MANE Select.
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 1892)
  AUTHORS   do Rosario,M.C., Bey,G.R., Nmezi,B., Liu,F., Oranburg,T.,
            Cohen,A.S.A., Coffman,K.A., Brown,M.R., Kiselyov,K., Waisfisz,Q.,
            Flohil,M.T., Siddiqui,S., Rosenfeld,J.A., Iglesias,A.,
            Girisha,K.M., Wolf,N.I., Padiath,Q.S. and Shukla,A.
  TITLE     Variants in the zinc transporter TMEM163 cause a hypomyelinating
            leukodystrophy
  JOURNAL   Brain 145 (12), 4202-4209 (2022)
   PUBMED   35953447
  REMARK    GeneRIF: Variants in the zinc transporter TMEM163 cause a
            hypomyelinating leukodystrophy.
REFERENCE   2  (bases 1 to 1892)
  AUTHORS   Escobar,A., Styrpejko,D.J., Ali,S. and Cuajungco,M.P.
  TITLE     Transmembrane 163 (TMEM163) protein interacts with specific
            mammalian SLC30 zinc efflux transporter family members
  JOURNAL   Biochem Biophys Rep 32, 101362 (2022)
   PUBMED   36204728
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1892)
  AUTHORS   Yan,H., Yang,S., Hou,Y., Ali,S., Escobar,A., Gao,K., Duan,R.,
            Kubisiak,T., Wang,J., Zhang,Y., Xiao,J., Jiang,Y., Zhang,T., Wu,Y.,
            Burmeister,M., Wang,Q., Cuajungco,M.P. and Wang,J.
  TITLE     Functional Study of TMEM163 Gene Variants Associated with
            Hypomyelination Leukodystrophy
  JOURNAL   Cells 11 (8), 1285 (2022)
   PUBMED   35455965
  REMARK    GeneRIF: Functional Study of TMEM163 Gene Variants Associated with
            Hypomyelination Leukodystrophy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1892)
  AUTHORS   Yuan,Y., Liu,T., Huang,X., Chen,Y., Zhang,W., Li,T., Yang,L.,
            Chen,Q., Wang,Y., Wei,A. and Li,W.
  TITLE     A zinc transporter, transmembrane protein 163, is critical for the
            biogenesis of platelet dense granules
  JOURNAL   Blood 137 (13), 1804-1817 (2021)
   PUBMED   33513603
  REMARK    GeneRIF: A zinc transporter, transmembrane protein 163, is critical
            for the biogenesis of platelet dense granules.
REFERENCE   5  (bases 1 to 1892)
  AUTHORS   Styrpejko,D.J. and Cuajungco,M.P.
  TITLE     Transmembrane 163 (TMEM163) Protein: A New Member of the Zinc
            Efflux Transporter Family
  JOURNAL   Biomedicines 9 (2), 220 (2021)
   PUBMED   33670071
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1892)
  AUTHORS   Cuajungco,M.P., Basilio,L.C., Silva,J., Hart,T., Tringali,J.,
            Chen,C.C., Biel,M. and Grimm,C.
  TITLE     Cellular zinc levels are modulated by TRPML1-TMEM163 interaction
  JOURNAL   Traffic 15 (11), 1247-1265 (2014)
   PUBMED   25130899
  REMARK    GeneRIF: TMEM163 is a putative zinc transporter, a novel
            interacting partner for TRPML1, essential for zinc homeostasis.
REFERENCE   7  (bases 1 to 1892)
  AUTHORS   Nalls,M.A., Pankratz,N., Lill,C.M., Do,C.B., Hernandez,D.G.,
            Saad,M., DeStefano,A.L., Kara,E., Bras,J., Sharma,M., Schulte,C.,
            Keller,M.F., Arepalli,S., Letson,C., Edsall,C., Stefansson,H.,
            Liu,X., Pliner,H., Lee,J.H., Cheng,R., Ikram,M.A., Ioannidis,J.P.,
            Hadjigeorgiou,G.M., Bis,J.C., Martinez,M., Perlmutter,J.S.,
            Goate,A., Marder,K., Fiske,B., Sutherland,M., Xiromerisiou,G.,
            Myers,R.H., Clark,L.N., Stefansson,K., Hardy,J.A., Heutink,P.,
            Chen,H., Wood,N.W., Houlden,H., Payami,H., Brice,A., Scott,W.K.,
            Gasser,T., Bertram,L., Eriksson,N., Foroud,T. and Singleton,A.B.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC);
            Parkinson's Study Group (PSG) Parkinson's Research: The Organized
            GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics
            Research Consortium (NGRC); Hussman Institute of Human Genomics
            (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health
            and Aging Research in Genetic Epidemiology (CHARGE); North American
            Brain Expression Consortium (NABEC); United Kingdom Brain
            Expression Consortium (UKBEC); Greek Parkinson's Disease
            Consortium; Alzheimer Genetic Analysis Group
  TITLE     Large-scale meta-analysis of genome-wide association data
            identifies six new risk loci for Parkinson's disease
  JOURNAL   Nat Genet 46 (9), 989-993 (2014)
   PUBMED   25064009
REFERENCE   8  (bases 1 to 1892)
  AUTHORS   Dichgans,M., Malik,R., Konig,I.R., Rosand,J., Clarke,R.,
            Gretarsdottir,S., Thorleifsson,G., Mitchell,B.D., Assimes,T.L.,
            Levi,C., O'Donnell,C.J., Fornage,M., Thorsteinsdottir,U.,
            Psaty,B.M., Hengstenberg,C., Seshadri,S., Erdmann,J., Bis,J.C.,
            Peters,A., Boncoraglio,G.B., Marz,W., Meschia,J.F., Kathiresan,S.,
            Ikram,M.A., McPherson,R., Stefansson,K., Sudlow,C., Reilly,M.P.,
            Thompson,J.R., Sharma,P., Hopewell,J.C., Chambers,J.C., Watkins,H.,
            Rothwell,P.M., Roberts,R., Markus,H.S., Samani,N.J., Farrall,M. and
            Schunkert,H.
  CONSRTM   METASTROKE Consortium; CARDIoGRAM Consortium; C4D Consortium;
            International Stroke Genetics Consortium
  TITLE     Shared genetic susceptibility to ischemic stroke and coronary
            artery disease: a genome-wide analysis of common variants
  JOURNAL   Stroke 45 (1), 24-36 (2014)
   PUBMED   24262325
  REMARK    Review article
REFERENCE   9  (bases 1 to 1892)
  AUTHORS   Tabassum,R., Chauhan,G., Dwivedi,O.P., Mahajan,A., Jaiswal,A.,
            Kaur,I., Bandesh,K., Singh,T., Mathai,B.J., Pandey,Y.,
            Chidambaram,M., Sharma,A., Chavali,S., Sengupta,S.,
            Ramakrishnan,L., Venkatesh,P., Aggarwal,S.K., Ghosh,S.,
            Prabhakaran,D., Srinath,R.K., Saxena,M., Banerjee,M., Mathur,S.,
            Bhansali,A., Shah,V.N., Madhu,S.V., Marwaha,R.K., Basu,A.,
            Scaria,V., McCarthy,M.I., Venkatesan,R., Mohan,V., Tandon,N. and
            Bharadwaj,D.
  CONSRTM   DIAGRAM; INDICO
  TITLE     Genome-wide association study for type 2 diabetes in Indians
            identifies a new susceptibility locus at 2q21
  JOURNAL   Diabetes 62 (3), 977-986 (2013)
   PUBMED   23209189
  REMARK    GeneRIF: Data suggest that SNP within TMEM163 (rs998451) and SNP
            near TMEM163 (rs6723108) are associated with type 2 diabetes and
            insulin resistance in subjects in India (versus Indo-Europeans and
            Dravidians). [META-ANALYSIS; Genome-Wide Association Studies]
REFERENCE   10 (bases 1 to 1892)
  AUTHORS   Burre,J., Zimmermann,H. and Volknandt,W.
  TITLE     Identification and characterization of SV31, a novel synaptic
            vesicle membrane protein and potential transporter
  JOURNAL   J Neurochem 103 (1), 276-287 (2007)
   PUBMED   17623043
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AW131848.1, BC026170.2, CD705559.1, BM998960.1 and AI307369.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030923.4.
            
            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 :: SRR3476690.159988.1,
                                           SRR1803616.16199.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000281924.6/ ENSP00000281924.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                AW131848.1         430-471             c
            43-805              BC026170.2         44-806
            806-1117            CD705559.1         274-585
            1118-1715           BM998960.1         96-693
            1716-1892           AI307369.1         9-185               c
FEATURES             Location/Qualifiers
     source          1..1892
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.3"
     gene            1..1892
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /note="transmembrane protein 163"
                     /db_xref="GeneID:81615"
                     /db_xref="HGNC:HGNC:25380"
                     /db_xref="MIM:618978"
     exon            1..267
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..935
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /codon_start=1
                     /product="transmembrane protein 163"
                     /protein_id="NP_112185.1"
                     /db_xref="CCDS:CCDS2172.1"
                     /db_xref="GeneID:81615"
                     /db_xref="HGNC:HGNC:25380"
                     /db_xref="MIM:618978"
                     /translation="MEPAAGIQRRSSQGPTVPPPPRGHAPPAAAPGPAPLSSPVREPP
                     QLEEERQVRISESGQFSDGLEDRGLLESSTRLKPHEAQNYRKKALWVSWFSIIVTLAL
                     AVAAFTVSVMRYSASAFGFAFDAILDVLSSAIVLWRYSNAAAVHSAHREYIACVILGV
                     IFLLSSICIVVKAIHDLSTRLLPEVDDFLFSVSILSGILCSILAVLKFMLGKVLTSRA
                     LITDGFNSLVGGVMGFSILLSAEVFKHDSAVWYLDGSIGVLIGLTIFAYGVKLLIDMV
                     PRVRQTRHYEMFE"
     exon            268..387
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /inference="alignment:Splign:2.1.0"
     exon            388..431
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /inference="alignment:Splign:2.1.0"
     exon            432..523
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /inference="alignment:Splign:2.1.0"
     exon            524..620
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /inference="alignment:Splign:2.1.0"
     exon            621..732
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /inference="alignment:Splign:2.1.0"
     exon            733..874
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1892
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1644..1649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /note="hexamer: AATAAA"
     polyA_site      1668
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /note="major polyA site"
     regulatory      1863..1868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /note="hexamer: AATAAA"
     polyA_site      1892
                     /gene="TMEM163"
                     /gene_synonym="DC29; HLD25; SLC30A11; SV31"
                     /note="major polyA site"
ORIGIN      
        1 gcacttctga ctcgagtccc cgccgcgctt gtcgtcgccg ccgccgggat ccgcagcccc
       61 gcgccatgga gccggccgcg ggcatccagc gccgcagctc ccaggggccc accgtcccgc
      121 cgccgccccg gggccacgcg ccaccggctg ccgcccccgg cccggccccg ctgagctccc
      181 cggtgcgcga gccgccccag ctggaggagg agcggcaggt gcggatcagc gagagcggcc
      241 agttcagcga cgggctggag gaccgaggct tactagaaag cagcacccgc ctgaaacctc
      301 acgaagccca gaactacagg aagaaggcat tgtgggtgtc ctggttctcc atcattgtca
      361 ccctggccct cgcggtggct gcctttactg tctccgttat gaggtacagc gcctctgctt
      421 ttgggtttgc atttgatgcc atcctggacg tcctgtcatc ggcgattgtc ctgtggcgtt
      481 acagcaacgc ggccgctgtg cactctgccc atagggagta catagcctgt gtcatcttgg
      541 gggtgatatt ccttctgtca tccatatgta tagtggtcaa agccatccat gacctctcaa
      601 ctaggctgct cccagaagtg gacgatttcc tgttcagtgt ctccatttta agtgggattc
      661 tttgcagcat cctggccgtg ttgaagttca tgctggggaa ggttctgacc agtagagcac
      721 tcataacaga tgggtttaac tccctcgtgg gtggcgtgat gggcttctcc attcttctga
      781 gcgcggaagt gttcaagcat gactcggcgg tctggtacct ggacggcagc ataggcgttc
      841 tgatcggcct caccatattt gcctatgggg tcaaactcct catcgacatg gtgccgaggg
      901 tgaggcagac acgtcactac gagatgtttg agtgaagggg gccagcatcc gcatgagacc
      961 atcgagatga ggagtttcca cataggcaaa gggtgccaat atttaactga acatctggtt
     1021 tctttttgga agttttcttt cacatggttt gtcattacaa gacaaggtct gcccagccag
     1081 gtggatctac cttgccccca tcacctgccg cccccatcaa acatgttggg acaatgccca
     1141 taggaatgga cctccttccc cgtctccagc tgggactggc gttttttagt ctctggagta
     1201 tgatggttct catgggtagg atgagatctt tggcagaaag gtcttcggtg gtgctctgag
     1261 cctgcgctgc ataggactga gcagacccac ctcctccagc ttgggtggcc ctgccactcc
     1321 tggttccaag tctctccttt cctggcaggt cttaagggaa gattgtaccc ctcacccttt
     1381 acatacccag aatcatcagt atgtcacttc ctaatttcta tcagtgtatc tcattatttc
     1441 atactgtttt actaatccta agtctaaaca gatttgctca aaaggagacc attctatttt
     1501 ttaaagtact tagtgataca cgtataagct ttgcatggac gaattaaata agcacattga
     1561 ccttttcttg tacattcaga acctgaacat ccatgtgaaa actgggtcca tttttgagag
     1621 atgtgaaact acagtttatt tgtaataaat aaatataatc tatccgtata tgcatatatc
     1681 tatatgctgt gttaagtggt aatgggtaca ttacagtctg tgagagatgg atcgctccct
     1741 ctgtaaggaa caagacgttc tcagctgatg tcacggtagg tttagattct gtagagtgtt
     1801 ccccaacccg caccgttctg tacctctcac accactgctt gcccgggcag tagtggctga
     1861 ccaataaaga cctttacctg ttttgtatgg ca
//
