LOCUS       NM_001286401            2009 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens transmembrane protein 217 (TMEM217), transcript
            variant 3, mRNA.
ACCESSION   NM_001286401 XM_005248907
VERSION     NM_001286401.2
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 2009)
  AUTHORS   Navarini,A.A., Simpson,M.A., Weale,M., Knight,J., Carlavan,I.,
            Reiniche,P., Burden,D.A., Layton,A., Bataille,V., Allen,M.,
            Pleass,R., Pink,A., Creamer,D., English,J., Munn,S., Walton,S.,
            Willis,C., Deret,S., Voegel,J.J., Spector,T., Smith,C.H.,
            Trembath,R.C. and Barker,J.N.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2009)
  AUTHORS   Goes,F.S., Hamshere,M.L., Seifuddin,F., Pirooznia,M.,
            Belmonte-Mahon,P., Breuer,R., Schulze,T., Nothen,M., Cichon,S.,
            Rietschel,M., Holmans,P., Zandi,P.P., Craddock,N. and Potash,J.B.
  CONSRTM   Bipolar Genome Study (BiGS)
  TITLE     Genome-wide association of mood-incongruent psychotic bipolar
            disorder
  JOURNAL   Transl Psychiatry 2 (10), e180 (2012)
   PUBMED   23092984
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2009)
  AUTHORS   Chapuis,J., Hot,D., Hansmannel,F., Kerdraon,O., Ferreira,S.,
            Hubans,C., Maurage,C.A., Huot,L., Bensemain,F., Laumet,G.,
            Ayral,A.M., Fievet,N., Hauw,J.J., DeKosky,S.T., Lemoine,Y.,
            Iwatsubo,T., Wavrant-Devrieze,F., Dartigues,J.F., Tzourio,C.,
            Buee,L., Pasquier,F., Berr,C., Mann,D., Lendon,C., Alperovitch,A.,
            Kamboh,M.I., Amouyel,P. and Lambert,J.C.
  TITLE     Transcriptomic and genetic studies identify IL-33 as a candidate
            gene for Alzheimer's disease
  JOURNAL   Mol Psychiatry 14 (11), 1004-1016 (2009)
   PUBMED   19204726
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2009)
  AUTHORS   Dailey,H.A. and Strittmatter,P.
  TITLE     Modification and identification of cytochrome b5 carboxyl groups
            involved in protein-protein interaction with cytochrome b5
            reductase
  JOURNAL   J Biol Chem 254 (12), 5388-5396 (1979)
   PUBMED   221468
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG285024.1, BC009625.1, BC026012.1, AL353579.17 and AW188099.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001286401.1.
            
            Transcript Variant: This variant (3) lacks an alternate exon in the
            3' coding region, compared to variant 1. The encoded isoform (3)
            has a distinct C-terminus and is shorter than 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.4453968.1,
                                           SRR14038192.3396649.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000651039.2/ ENSP00000499204.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                BG285024.1         12-40
            30-577              BC009625.1         14-561
            578-1442            BC026012.1         28-892
            1443-1729           AL353579.17        68938-69224         c
            1730-2009           AW188099.1         7-286               c
FEATURES             Location/Qualifiers
     source          1..2009
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.2"
     gene            1..2009
                     /gene="TMEM217"
                     /gene_synonym="C6orf128; dJ355M6.2"
                     /note="transmembrane protein 217"
                     /db_xref="GeneID:221468"
                     /db_xref="HGNC:HGNC:21238"
     exon            1..577
                     /gene="TMEM217"
                     /gene_synonym="C6orf128; dJ355M6.2"
                     /inference="alignment:Splign:2.1.0"
     exon            578..1193
                     /gene="TMEM217"
                     /gene_synonym="C6orf128; dJ355M6.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             589..1224
                     /gene="TMEM217"
                     /gene_synonym="C6orf128; dJ355M6.2"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /codon_start=1
                     /product="transmembrane protein 217 isoform 3"
                     /protein_id="NP_001273330.1"
                     /db_xref="CCDS:CCDS69102.1"
                     /db_xref="GeneID:221468"
                     /db_xref="HGNC:HGNC:21238"
                     /translation="MKQQQWCGMTAKMGTVLSGVFTIMAVDMYLIFEQKHLGNGSCTE
                     ITPKYRGASNIINNFIICWSFKIVLFLSFITILISCFLLYSVYAQIFRGLVIYIVWIF
                     FYETANVVIQILTNNDFDIKEVRIMRWFGLVSRTVMHCFWMFFVINYAHITYKNRSQG
                     NIISYKRRISTAEILHSRNKRLSISSGFSGSHLESQYFERQRRCSGKTSIK"
     exon            1194..2009
                     /gene="TMEM217"
                     /gene_synonym="C6orf128; dJ355M6.2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2009
                     /gene="TMEM217"
                     /gene_synonym="C6orf128; dJ355M6.2"
                     /note="major polyA site"
ORIGIN      
        1 agctcgctgt tcgcttcgct gcctgacagc tgccctgccg ccaccaggca gtcccagctt
       61 ccccaaacca gtcttctggc ctctgtggcg ccccaggccc gcgggattca gggattagga
      121 tctggaaggg tttggtccaa tcccctatcc ctctcagcgt cctgggctca cctccccggc
      181 agcttagcgc tcctcttcca aaactgcttg ctgttctcag cggccattgc tctggccggg
      241 ggaagtcctt gtaggcgggc caagggtttg cccggcgaga tgcccccaga ccccgcaatc
      301 tgagggccaa cccaggccgc ttccccgccg ccggtcaccc gctcccagct cctggggacg
      361 ccatcttgga tgtgggcacc cctccaccca gcaccgctgc cattggtgag ctgcgcaagc
      421 cgtggacggg ccgaccaatt gggagccgga atcctgcagg ccgctgaagc cgaccggtaa
      481 cgtcaggggc tgggcacaca ggtggacggg gaaggcggag cttggacgag ccgagaggcg
      541 gggctcaaag ttcctacccg cgagagggaa gaagcaggag gtctcagcat gaaacagcag
      601 cagtggtgtg ggatgactgc caaaatgggc accgtgttgt caggggtctt caccatcatg
      661 gccgtagaca tgtatctcat ctttgaacag aagcacctag ggaatggcag ttgcactgag
      721 atcacaccaa agtacagggg tgcaagtaac atcataaata acttcatcat ctgctggagt
      781 tttaaaatcg tcctcttcct gtctttcatc accatcctca tcagctgctt cctcctgtac
      841 tcagtgtatg cccagatctt caggggcctg gtcatctaca ttgtctggat ttttttctat
      901 gaaactgcaa acgtcgtaat acaaatcctc accaacaatg actttgacat taaagaggtc
      961 agaatcatgc gctggtttgg cttggtgtct cgtacagtca tgcactgttt ctggatgttc
     1021 tttgtcatca actatgccca cataacctac aaaaaccgga gccagggcaa tataatttcc
     1081 tacaagagac gaatttctac agcggagatt ctccacagca gaaataaaag attatcaatt
     1141 tcgagtgggt tcagtggctc acacctggaa tcccagtact ttgagaggca gaggaggtgc
     1201 tctggtaaaa caagtataaa atgaatgtca ggatgttctc cctcatggtg ggcatcttct
     1261 ctgtccttaa taccacccag ttcttcatct ttgacctgaa ccagaagaca cacatttgct
     1321 atgaggccaa gttcagcatc tacgtggact caaagtcgga gctagtcact tggaccctgt
     1381 tccacagggc taatatcagc actggcctct ccctcaccac catcatcatc ggctgcttcc
     1441 tcttttattg tatccacaag aatatctaca tggggctgct gatctatgcc atgtggatca
     1501 tcacttacga gctcatcaac ttctccatag tcctgctcct caacgggatc atcaaagatc
     1561 acttcaagac gctgagttat ttgcactgga tcttccaaat ctcacacatg ctcctgcact
     1621 ttttctgtct gcccttcatc gtcaagcatg catacaacct ttacaaggaa tcccagactg
     1681 tgggcaggaa acgccgccac aggctctgct ccaccattgc agtgaactca tgactacctg
     1741 tccgtctggg aatgttgtac cggaagttaa actgaaccat gccagatgcc aggaaaggtg
     1801 ggagggaatg gtgttcctca acaatggaac cctccctacc ctgcctgtct tctgttgatg
     1861 ctgcttggtt tgtcagggct tttgagtttt acgcactgag gaatgattct cgggagaggg
     1921 caggttgtgc ggatcaatta ttttacagat gtgttgtgtg acttgtttta gcagttaatg
     1981 atatgtggcc ttgtgcttac ttaaccatc
//
