LOCUS       NM_018247               4418 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens transmembrane protein 30A (TMEM30A), transcript
            variant 1, mRNA.
ACCESSION   NM_018247
VERSION     NM_018247.4
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 4418)
  AUTHORS   Kristenson,L., Badami,C., Ljungberg,A., Islamagic,E., Tian,Y.,
            Xie,G., Hussein,B.A., Pesce,S., Tang,K.W. and Thoren,F.B.
  TITLE     Deletion of the TMEM30A gene enables leukemic cell evasion of NK
            cell cytotoxicity
  JOURNAL   Proc Natl Acad Sci U S A 121 (15), e2316447121 (2024)
   PUBMED   38557174
  REMARK    GeneRIF: Deletion of the TMEM30A gene enables leukemic cell evasion
            of NK cell cytotoxicity.
REFERENCE   2  (bases 1 to 4418)
  AUTHORS   Shen,N., Yang,D., Hou,J., Mi,X., Xu,H. and Liu,X.
  TITLE     CircTMEM30A/hsa-miR-130a-3p regulates TNFalpha and promotes the
            malignant progression of COPD with primary lung cancer
  JOURNAL   Minerva Med 114 (3), 332-344 (2023)
   PUBMED   33616375
  REMARK    GeneRIF: CircTMEM30A/hsa-miR-130a-3p regulates TNFalpha and
            promotes the malignant progression of COPD with primary lung
            cancer.
REFERENCE   3  (bases 1 to 4418)
  AUTHORS   Grifell-Junyent,M., Baum,J.F., Valimets,S., Herrmann,A.,
            Paulusma,C.C., Lopez-Marques,R.L. and Gunther Pomorski,T.
  TITLE     CDC50A is required for aminophospholipid transport and cell fusion
            in mouse C2C12 myoblasts
  JOURNAL   J Cell Sci 135 (5) (2022)
   PUBMED   34664668
  REMARK    GeneRIF: CDC50A is required for aminophospholipid transport and
            cell fusion in mouse C2C12 myoblasts.
REFERENCE   4  (bases 1 to 4418)
  AUTHORS   Liu,W., Peng,L., Tian,W., Li,Y., Zhang,P., Sun,K., Yang,Y., Li,X.,
            Li,G. and Zhu,X.
  TITLE     Loss of phosphatidylserine flippase beta-subunit Tmem30a in
            podocytes leads to albuminuria and glomerulosclerosis
  JOURNAL   Dis Model Mech 14 (6) (2021)
   PUBMED   34080006
  REMARK    GeneRIF: Loss of phosphatidylserine flippase beta-subunit Tmem30a
            in podocytes leads to albuminuria and glomerulosclerosis.
REFERENCE   5  (bases 1 to 4418)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 4418)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 4418)
  AUTHORS   Folmer,D.E., van der Mark,V.A., Ho-Mok,K.S., Oude Elferink,R.P. and
            Paulusma,C.C.
  TITLE     Differential effects of progressive familial intrahepatic
            cholestasis type 1 and benign recurrent intrahepatic cholestasis
            type 1 mutations on canalicular localization of ATP8B1
  JOURNAL   Hepatology 50 (5), 1597-1605 (2009)
   PUBMED   19731236
REFERENCE   8  (bases 1 to 4418)
  AUTHORS   Paulusma,C.C., Folmer,D.E., Ho-Mok,K.S., de Waart,D.R.,
            Hilarius,P.M., Verhoeven,A.J. and Oude Elferink,R.P.
  TITLE     ATP8B1 requires an accessory protein for endoplasmic reticulum exit
            and plasma membrane lipid flippase activity
  JOURNAL   Hepatology 47 (1), 268-278 (2008)
   PUBMED   17948906
  REMARK    GeneRIF: CDC50A may be the potential beta-subunit or chaperone for
            ATP8B1 in hepatocytes.
REFERENCE   9  (bases 1 to 4418)
  AUTHORS   Katoh,Y. and Katoh,M.
  TITLE     Identification and characterization of CDC50A, CDC50B and CDC50C
            genes in silico
  JOURNAL   Oncol Rep 12 (4), 939-943 (2004)
   PUBMED   15375526
REFERENCE   10 (bases 1 to 4418)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB239737.1, AK001718.1, AJ420517.1, AL080250.11 and AA599967.1.
            
            On Nov 24, 2018 this sequence version replaced NM_018247.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: AL832815.1, SRR1803615.207327.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000230461.11/ ENSP00000230461.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 DB239737.1         89-95
            8-2081              AK001718.1         1-2074
            2082-2760           AJ420517.1         879-1557
            2761-4235           AL080250.11        71704-73178         c
            4236-4418           AA599967.1         3-185               c
FEATURES             Location/Qualifiers
     source          1..4418
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..4418
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /note="transmembrane protein 30A"
                     /db_xref="GeneID:55754"
                     /db_xref="HGNC:HGNC:16667"
                     /db_xref="MIM:611028"
     exon            1..391
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /inference="alignment:Splign:2.1.0"
     CDS             155..1240
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /note="isoform 1 is encoded by transcript variant 1; cell
                     cycle control protein 50A; P4-ATPase flippase complex beta
                     subunit TMEM30A"
                     /codon_start=1
                     /product="cell cycle control protein 50A isoform 1"
                     /protein_id="NP_060717.1"
                     /db_xref="CCDS:CCDS4983.1"
                     /db_xref="GeneID:55754"
                     /db_xref="HGNC:HGNC:16667"
                     /db_xref="MIM:611028"
                     /translation="MAMNYNAKDEVDGGPPCAPGGTAKTRRPDNTAFKQQRLPAWQPI
                     LTAGTVLPIFFIIGLIFIPIGIGIFVTSNNIREIEIDYTGTEPSSPCNKCLSPDVTPC
                     FCTINFTLEKSFEGNVFMYYGLSNFYQNHRRYVKSRDDSQLNGDSSALLNPSKECEPY
                     RRNEDKPIAPCGAIANSMFNDTLELFLIGNDSYPIPIALKKKGIAWWTDKNVKFRNPP
                     GGDNLEERFKGTTKPVNWLKPVYMLDSDPDNNGFINEDFIVWMRTAALPTFRKLYRLI
                     ERKSDLHPTLPAGRYSLNVTYNYPVHYFDGRKRMILSTISWMGGKNPFLGIAYIAVGS
                     ISFLLGVVLLVINHKYRNSSNTADITI"
     exon            392..499
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /inference="alignment:Splign:2.1.0"
     exon            500..607
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /inference="alignment:Splign:2.1.0"
     exon            608..695
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /inference="alignment:Splign:2.1.0"
     exon            696..839
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /inference="alignment:Splign:2.1.0"
     exon            840..1046
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..4418
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4394..4399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /note="hexamer: AATAAA"
     polyA_site      4418
                     /gene="TMEM30A"
                     /gene_synonym="C6orf67; CDC50A"
                     /note="major polyA site"
ORIGIN      
        1 ctcttccgct ctacagcgga ggtggctgtg gcggtggcgc tggtggctgc ggcggcggcg
       61 gcggcagcgg cgctcgagcg gttcctgtca gggtcagccg gcgggccccc tgggtggtcc
      121 acctgcaaat cgcggagcgg cgccccaggg atcgatggcg atgaactata acgcgaagga
      181 tgaagtggac ggtgggcccc cgtgtgctcc ggggggcacc gcgaagactc ggagaccgga
      241 taacacggcc ttcaaacagc aacggctgcc agcttggcag cccatcctta cggctggcac
      301 ggtgctacct attttcttca tcatcggtct catcttcatt cccatcggca ttggcatttt
      361 tgtcacctcc aacaacatcc gcgagatcga gattgattat accggaacag agccttccag
      421 tccctgtaat aaatgtttat ctccggatgt gacaccttgc ttttgtacca ttaacttcac
      481 actggaaaag tcatttgagg gcaacgtgtt tatgtattat ggactgtcta atttctatca
      541 aaaccatcgt cgttacgtga aatctcgaga tgatagtcaa ctaaatggag attctagtgc
      601 tttgcttaat cccagtaagg aatgtgaacc ttatcgaaga aatgaagaca aaccaattgc
      661 tccttgtgga gctattgcca acagcatgtt taatgataca ttagaattgt ttctcattgg
      721 caatgattct tatcctatac ctatcgcttt gaaaaagaaa ggtattgctt ggtggacaga
      781 taaaaatgtg aaattcagaa atccccctgg aggagacaac ctggaagaac gatttaaagg
      841 tacaacaaag cctgtgaact ggcttaaacc agtttacatg ctggattctg acccagataa
      901 taatggattc ataaatgagg attttattgt ttggatgcgt actgcagcat tacctacttt
      961 tcgcaagttg tatcgtctta tagaaaggaa aagtgattta catccaacat taccagctgg
     1021 ccgatactct ttgaatgtca catacaatta ccctgtacat tattttgatg gacgaaaacg
     1081 gatgatcttg agcactattt catggatggg aggaaaaaat ccatttttgg ggattgctta
     1141 catcgctgtt ggatccatct ccttccttct gggagttgta ctgctagtaa ttaatcataa
     1201 atatagaaac agtagtaata cagctgacat taccatttaa ttttatatta tgaaagcaaa
     1261 tcatctgcat gtgcatcaag gccagtccta ttcaacctag ctttcgaatg ctgatatctg
     1321 gttagtatgt cattttgaag ttggcacata acttttctaa aaaaaagcag tctttgttgt
     1381 ttgcttcttc cctacggatg acttctaaaa atatatgacg ggtataaaaa aattagctat
     1441 attgatcata tcaacactgt aactgctgaa atggcattct aatgtttgct ttttattcgg
     1501 acaggccaca tgatgcatag agcctctttc atgtgacttg tgtctactgc ttaaatcttt
     1561 atgctgtgtt gatgatatta tattgacata tgaagctgta tatgtgtatg tattttgtgg
     1621 agaaagggat tacaagatgt atgagtataa tgacttgcta acctttcagg attcagagaa
     1681 agatgaagaa agaccatatc taaataatac acttcatcat tttcatgtgt ataaatgctt
     1741 aaagtaccat ctttgttgag gtggttcatg tatccagttt atccagtaca gttatttgtc
     1801 aagcttagct ttgatttcaa aggacacgct taccttgtct ggcataagaa ttaatgctca
     1861 tgtctgcagt ggttgggtag gtcctgctta ggagaattaa aaaattcctc tttccgtttg
     1921 gttgaatgtt gcagtcagga accccaactc acttggaatg tttttatatg taatcatttc
     1981 ccttgaagct tatactttat aagggaagaa agaattcagg tgatatggga aaactgcttg
     2041 gcagaccttc atcttctgcc tcaactgtaa accacatgta agtgcttaat ggagactgtt
     2101 ttcattcttg tgatatttaa cattcagaaa attacttcag ctttggaaat actcaggctg
     2161 tttttattct gcaggtaagt gttttgactt aagtactaat attccagaaa tttttgaaag
     2221 cagtaacctt aatttcctat gtatttcatt ccacttttgc atataggtca aatagcaatg
     2281 tgtatgcaca ttctctttag ttaaggcacc aattgttttg gttggttttc ctaagacata
     2341 ctttaaaaag atgttctata aatttcctaa ttaaattatg gggattttgg agtatgtaca
     2401 tgataaatta taatatgtat atggttgaag ttattttatt ttttactaat gaattatttt
     2461 aatattcctt attgaataaa tgctgtaact tgtttgctat ggaacttatt cttaaagttc
     2521 tagttaaaaa taatttttcc acatgcatga aaatatgtat taatcagagg tggcttaatt
     2581 acattgaaat tgcttttttg ttgttgtttt tttactgaaa taactcatgt ttgtgtagaa
     2641 gaatgcctgt ttactcagag tttatatttt ccttcagtta tattttaaat caaaaggtct
     2701 gggtaatgta tacttttgat taatatatac tttttttaaa aaacaaaaaa caatgtaatg
     2761 gttaatagta gaaatgtgcc acacttttca agttttatat aacatatgaa attcagttaa
     2821 aagaatgtgt gtttcataat gacttttaac tggtaaaaat attacttgca cgaagtactt
     2881 gatgtatggt tatcctgaaa tttcggagta tttggtgtgt tctttgtcta aaaatagtct
     2941 gttttgtcag tccttcagaa tattatttat tctgaagatt gtccctcttg cacttggcag
     3001 tttattttcg gggatacatt gttgggggag aggggtttct gccactcttt ccagattgag
     3061 tctgtgctgt ttaaggagga ctaccatcct gcaactcttt ttctaactgg ggcacagagg
     3121 atgtcgctaa agaaaagttg aagagccctt tcagcacttt ctcatctgtg gagaagatgg
     3181 aatcttaaaa tacatttgga gttttatctg ttttacaagt ccattgatgg cctaagttcc
     3241 tcctgttttc tgctgtttga tctctaagga actcctgttg ctaaatatga agagtatgga
     3301 acattcgtat agtctctgtg aagcatgggg ggagggaaga catttctttt tcttataggc
     3361 tttatgctca aatgtcatag tctcctttca aagaattgtg ttgcatttta aatgcaccca
     3421 gcttaagtag aagacattga aggatgcatt aattttcagg aactattttg aattatgaaa
     3481 agattcccaa ttgaaaaaat tattcaacaa gtaaaagcta agaaatttca ttgaaatcat
     3541 aaggcagttt aagcataaat tgataaaaat agctgtgtac tactaattaa tagaaaatca
     3601 ttcaaccaag agaagagtca agtgaatatc gtttgtttat ttgctagtga gtttctttgt
     3661 aacgttgatt ttattaaatg ataatatttg gttagtatgt cctatgttaa taaaaatgaa
     3721 caaaattaat tttgctatgt tcaggtgtct tgataaaata acaatgctcc agtgttgttg
     3781 cttacattta gcactaaatt ttaacacagc gtcagtgagt ccaggtttta acttcttcat
     3841 gcctggatgg gataaaatgt aattcattgt taaattaatt catatttgta tttattaatc
     3901 actgtgacaa cattaaccat ttgttcttac caggaagtgg tcagattatc atctgagtta
     3961 cagttagact ggctaagttt ggtattagat caaggggaat gtccagtaaa cagagaggta
     4021 agcatgatgg aaataatgaa gtggggtaca caggaaaaac ctgactagtg aggaggagca
     4081 gctgagagat agggtcagtg aatgcggttc agcctgctac ctctcctgtc ttcatagaac
     4141 cattgcctta gaattattgt atgacacatt ttttgttggt taagctgtaa ggttttgttc
     4201 tttgtgaaca tgggtatttt gaggggaggg tggagggagt agggaagtgg tccttttaca
     4261 agaattttga tgcataagtg tctattgtag ggtttggatg atctagtaaa gtgttttaga
     4321 accccttttt atcccatgca ccattcagta aacataaaaa tcacaattct gctaatgtca
     4381 tttggaactt caaaataaat atcttgtcta aaaacaaa
//
