LOCUS       NM_199368               3138 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens transient receptor potential cation channel subfamily
            C member 4 associated protein (TRPC4AP), transcript variant 2,
            mRNA.
ACCESSION   NM_199368
VERSION     NM_199368.2
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 3138)
  AUTHORS   Choukair,D., Eberle,B., Vick,P., Hermanns,P., Weiss,B.,
            Paramasivam,N., Schlesner,M., Lornsen,K., Roeth,R., Klutmann,C.,
            Kreis,J., Hoffmann,G.F., Pohlenz,J., Rappold,G.A. and Bettendorf,M.
  TITLE     Identification of Transient Receptor Potential Channel 4-Associated
            Protein as a Novel Candidate Gene Causing Congenital Primary
            Hypothyroidism
  JOURNAL   Horm Res Paediatr 93 (1), 16-29 (2020)
   PUBMED   32428920
  REMARK    GeneRIF: Identification of Transient Receptor Potential Channel
            4-Associated Protein as a Novel Candidate Gene Causing Congenital
            Primary Hypothyroidism.
REFERENCE   2  (bases 1 to 3138)
  AUTHORS   Yu,C.J., Wang,Q.S., Wu,M.M., Song,B.L., Liang,C., Lou,J.,
            Tang,L.L., Yu,X.D., Niu,N., Yang,X., Zhang,B.L., Qu,Y., Liu,Y.,
            Dong,Z.C. and Zhang,Z.R.
  TITLE     TRUSS Exacerbates NAFLD Development by Promoting IkappaBalpha
            Degradation in Mice
  JOURNAL   Hepatology 68 (5), 1769-1785 (2018)
   PUBMED   29704259
  REMARK    GeneRIF: Hepatocyte TRUSS promotes pathological stimuli-induced non
            alcoholic fatty liver disease and metabolic disorders, through
            activation of NF-kappaB by promoting ubiquitination and degradation
            of IkappaBalpha
REFERENCE   3  (bases 1 to 3138)
  AUTHORS   Koren,I., Timms,R.T., Kula,T., Xu,Q., Li,M.Z. and Elledge,S.J.
  TITLE     The Eukaryotic Proteome Is Shaped by E3 Ubiquitin Ligases Targeting
            C-Terminal Degrons
  JOURNAL   Cell 173 (7), 1622-1635 (2018)
   PUBMED   29779948
REFERENCE   4  (bases 1 to 3138)
  AUTHORS   Jamal,A., Swarnalatha,M., Sultana,S., Joshi,P., Panda,S.K. and
            Kumar,V.
  TITLE     The G1 phase E3 ubiquitin ligase TRUSS that gets deregulated in
            human cancers is a novel substrate of the S-phase E3 ubiquitin
            ligase Skp2
  JOURNAL   Cell Cycle 14 (16), 2688-2700 (2015)
   PUBMED   26038816
  REMARK    GeneRIF: TRUSS is a novel substrate of E3 ligase Skp2.
REFERENCE   5  (bases 1 to 3138)
  AUTHORS   Tang,W., Schwienbacher,C., Lopez,L.M., Ben-Shlomo,Y.,
            Oudot-Mellakh,T., Johnson,A.D., Samani,N.J., Basu,S., Gogele,M.,
            Davies,G., Lowe,G.D., Tregouet,D.A., Tan,A., Pankow,J.S.,
            Tenesa,A., Levy,D., Volpato,C.B., Rumley,A., Gow,A.J., Minelli,C.,
            Yarnell,J.W., Porteous,D.J., Starr,J.M., Gallacher,J.,
            Boerwinkle,E., Visscher,P.M., Pramstaller,P.P., Cushman,M.,
            Emilsson,V., Plump,A.S., Matijevic,N., Morange,P.E., Deary,I.J.,
            Hicks,A.A. and Folsom,A.R.
  TITLE     Genetic associations for activated partial thromboplastin time and
            prothrombin time, their gene expression profiles, and risk of
            coronary artery disease
  JOURNAL   Am J Hum Genet 91 (1), 152-162 (2012)
   PUBMED   22703881
REFERENCE   6  (bases 1 to 3138)
  AUTHORS   Jikuya,H., Takano,J., Kikuno,R., Hirosawa,M., Nagase,T., Nomura,N.
            and Ohara,O.
  TITLE     Characterization of long cDNA clones from human adult spleen. II.
            The complete sequences of 81 cDNA clones
  JOURNAL   DNA Res 10 (1), 49-57 (2003)
   PUBMED   12693554
REFERENCE   7  (bases 1 to 3138)
  AUTHORS   Antoniou,A.N., Ford,S., Pilley,E.S., Blake,N. and Powis,S.J.
  TITLE     Interactions formed by individually expressed TAP1 and TAP2
            polypeptide subunits
  JOURNAL   Immunology 106 (2), 182-189 (2002)
   PUBMED   12047747
REFERENCE   8  (bases 1 to 3138)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   9  (bases 1 to 3138)
  AUTHORS   Gaudet,R. and Wiley,D.C.
  TITLE     Structure of the ABC ATPase domain of human TAP1, the transporter
            associated with antigen processing
  JOURNAL   EMBO J 20 (17), 4964-4972 (2001)
   PUBMED   11532960
REFERENCE   10 (bases 1 to 3138)
  AUTHORS   Ritz,U., Momburg,F., Pircher,H.P., Strand,D., Huber,C. and
            Seliger,B.
  TITLE     Identification of sequences in the human peptide transporter
            subunit TAP1 required for transporter associated with antigen
            processing (TAP) function
  JOURNAL   Int Immunol 13 (1), 31-41 (2001)
   PUBMED   11133832
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM149369.1, BC013144.1, BI488542.1, CF125531.1, BM723903.1 and
            BC008836.2.
            
            On Aug 14, 2020 this sequence version replaced NM_199368.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site compared to variant 1, resulting in an isoform (b)
            which has the same N- and C-termini but which is shorter compared
            to isoform a.
            
            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 :: SRR11853559.20591.1,
                                           SRR11853567.18843.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-243               BM149369.1         9-251
            244-411             BC013144.1         221-388
            412-424             BI488542.1         401-413
            425-498             BC013144.1         402-475
            499-502             CF125531.1         479-482
            503-1077            BC013144.1         480-1054
            1078-2922           BC013144.1         1079-2923
            2923-2992           BM723903.1         160-229             c
            2993-3135           BC013144.1         2994-3136
            3136-3138           BC008836.2         1534-1536
FEATURES             Location/Qualifiers
     source          1..3138
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..3138
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /note="transient receptor potential cation channel
                     subfamily C member 4 associated protein"
                     /db_xref="GeneID:26133"
                     /db_xref="HGNC:HGNC:16181"
                     /db_xref="MIM:608430"
     exon            1..194
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..2396
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /note="isoform b is encoded by transcript variant 2; tumor
                     necrosis factor receptor-associated ubiquitous scaffolding
                     and signaling protein; TRP4-associated protein; short
                     transient receptor potential channel 4-associated protein;
                     trpc4-associated protein; TNF-receptor ubiquitous
                     scaffolding/signaling protein; protein phosphatase 1,
                     regulatory subunit 158"
                     /codon_start=1
                     /product="short transient receptor potential channel
                     4-associated protein isoform b"
                     /protein_id="NP_955400.1"
                     /db_xref="CCDS:CCDS46591.1"
                     /db_xref="GeneID:26133"
                     /db_xref="HGNC:HGNC:16181"
                     /db_xref="MIM:608430"
                     /translation="MAAAPVAAGSGAGRGRRSAATVAAWGGWGGRPRPGNILLQLRQG
                     QLTGRGLVRAVQFTETFLTERDKQSKWSGIPQLLLKLHTTSHLHSDFVECQNILKEIS
                     PLLSMEAMAFVTEERKLTQETTYPNTYIFDLFGGVDLLVEILMRPTISIRGQKLKISD
                     EMSKDCLSILYNTCVCTEGVTKRLAEKNDFVIFLFTLMTSKKTFLQTATLIEDILGVK
                     KEMIRLDEVPNLSSLVSNFDQQQLANFCRILAVTISEMDTGNDDKHTLLAKNAQQKKS
                     LSLGPSAAEINQAALLSIPGFVERLCKLATRKVSESTGTASFLQELEEWYTWLDNALV
                     LDALMRVANEESEHNQGASEENGLPHTSARTQLPQSMKIMHEIMYKLEVLYVLCVLLM
                     GRQRNQVHRMIAEFKLIPGLNNLFDKLIWRKHSASALVLHGHNQNCDCSPDITLKIQF
                     LRLLQSFSDHHENKYLLLNNQELNELSAISLKANIPEVEAVLNTDRSLVCDGKRGLLT
                     RLLQVMKKEPAESSFRFWQARAVESFLRGTTSYADQMFLLKRGLLEHILYCIVDSECK
                     SRDVLQSYFDLLGELMKFNVDAFKRFNKYINTDAKFQVFLKQINSSLVDSNMLVRCVT
                     LSLDRFENQVDMKVAEVLSECRLLAYISQVPTQMSFLFRLINIIHVQTLTQENVSCLN
                     TSLVILMLARRKERLPLYLRLLQRMEHSKKYPGFLLNNFHNLLRFWQQHYLHKDKDST
                     CLENSSCISFSYWKETVSILLNPDRQSPSALVSYIEEPYMDIDRDFTEE"
     exon            195..323
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            324..440
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            441..498
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            499..554
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            555..683
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            684..891
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1077
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1220
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1352
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1411
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..1513
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1597
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1598..1688
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1829
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1830..1938
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..2051
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            2052..2258
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            2259..3138
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3113..3118
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /note="hexamer: ATTAAA"
     polyA_site      3138
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /note="major polyA site"
ORIGIN      
        1 gcttcctgtt tgtccgacga ggagacatgg cggcggcgcc ggtagcggct gggtctggag
       61 ccggccgagg gagacggtcg gcagccacag tggcggcttg gggcggatgg ggcggccggc
      121 cgcggcctgg taacattctg ctgcagctgc ggcagggcca gctgaccggc cggggcctgg
      181 tccgggcggt gcagttcact gagacttttt tgacggagag ggacaaacaa tccaagtgga
      241 gtggaattcc tcagctgctc ctcaagctgc acaccaccag ccacctccac agtgactttg
      301 ttgagtgtca aaacatcctc aaggaaattt ctcctcttct ctccatggag gctatggcat
      361 ttgttactga agagaggaaa cttacccaag aaaccactta tccaaatact tacatttttg
      421 acttgtttgg aggtgttgat cttcttgtag aaattcttat gaggcctacg atctctatcc
      481 ggggacagaa actgaaaata agtgatgaaa tgtccaagga ctgcttgagt atcctgtata
      541 atacctgtgt ctgtacagag ggagttacaa agcgtttggc agaaaagaat gactttgtga
      601 tcttcctgtt tacattgatg acaagtaaga agacattctt acaaacagca accctcattg
      661 aagatatttt gggtgttaaa aaggaaatga tccgactaga tgaagtcccc aatctgagtt
      721 ccttagtatc caatttcgat cagcagcagc tcgctaattt ctgccggatt ctggctgtca
      781 ccatttcaga gatggataca gggaatgatg acaagcacac gcttcttgcc aaaaatgctc
      841 aacagaagaa gagcttgagt ttggggcctt ctgcagctga aatcaatcaa gcggcccttc
      901 tcagcattcc tggctttgtt gagcggcttt gcaaactggc gactcgaaag gtgtcagagt
      961 caacgggcac agccagcttc cttcaggagt tggaagagtg gtacacatgg ctagacaatg
     1021 ctttggtgct agatgccctg atgcgagtgg ccaatgagga gtcagagcac aatcaagggg
     1081 cttctgagga gaatggcctg cctcacacgt cagccagaac ccagctgccc cagtcaatga
     1141 agattatgca tgagatcatg tacaaactgg aagtgctcta tgtcctctgc gtgctgctga
     1201 tggggcgtca gcgaaaccag gttcacagaa tgattgcaga gttcaagctg atccctggac
     1261 ttaataattt gtttgacaaa ctgatttgga ggaagcattc agcatctgcc cttgtcctcc
     1321 atggtcacaa ccagaactgt gactgtagcc cggacatcac cttgaagata cagtttttga
     1381 ggcttcttca gagcttcagt gaccaccacg agaacaagta cttgttactc aacaaccagg
     1441 agctgaatga actcagtgcc atctctctca aggccaacat ccctgaggtg gaagctgtcc
     1501 tcaacaccga caggagtttg gtgtgtgatg ggaagagggg cttattaact cgtctgctgc
     1561 aggtcatgaa gaaggagcca gcagagtcgt ctttcaggtt ttggcaagct cgggctgtgg
     1621 agagtttcct ccgagggacc acctcctatg cagaccagat gttcctgctg aagcgaggcc
     1681 tcttggagca catcctttac tgcattgtgg acagcgagtg taagtcaagg gatgtgctcc
     1741 agagttactt tgacctcctg ggggagctga tgaagttcaa cgttgatgca ttcaagagat
     1801 tcaataaata tatcaacacc gatgcaaagt tccaggtatt cctgaagcag atcaacagct
     1861 ccctggtgga ctccaacatg ctggtgcgct gtgtcactct gtccctggac cgatttgaaa
     1921 accaggtgga tatgaaagtt gccgaggtac tgtctgaatg ccgcctgctc gcctacatat
     1981 cccaggtgcc cacgcagatg tccttcctct tccgcctcat caacatcatc cacgtgcaga
     2041 cgctgaccca ggagaacgtc agctgcctca acaccagcct ggtgatcctg atgctggccc
     2101 gacggaaaga gcggctgccc ctgtacctgc ggctgctgca gcggatggag cacagcaaga
     2161 agtaccccgg cttcctgctc aacaacttcc acaacctgct gcgcttctgg cagcagcact
     2221 acctgcacaa ggacaaggac agcacctgcc tagagaacag ctcctgcatc agcttctcat
     2281 actggaagga gacagtgtcc atcctgttga acccggaccg gcagtcaccc tctgctctcg
     2341 ttagctacat tgaggagccc tacatggaca tagacaggga cttcactgag gagtgacctt
     2401 gggccaggcc tcgggaggct gctgggccag tgtgggtgag cgtgggtacg atgccacacg
     2461 ccctgccctg ttcccgttcc tccctgctgc tctctgcctg ccccaggtct ttgggtacag
     2521 gcttggtggg agggaagtcc tagaagccct tggtccccct gggtctgagg gccctaggtc
     2581 atggagagcc tcagtcccca taatgaggac agggtaccat gcccaccttt ccttcagaac
     2641 cctggggccc agggccaccc agaggtaaga ggacatttag cattagctct gtgtgagctc
     2701 ctgccggttt cttggctgtc agtcagtccc agagtgggga ggaagatatg ggtgaccccc
     2761 accccccatc tgtgagccaa gcctcccttg tccctggcct ttggacccag gcaaaggctt
     2821 ctgagccctg ggcaggggtg gtgggtacca gagaatgctg ccttccccca agcctgcccc
     2881 tctgcctcat tttcctgtag ctcctctggt tctgtttgct cattggccgc tgtgttcatc
     2941 caagggggtt ctcccagaag tgaggggcct ttccctccat cccttggggc acggggcagc
     3001 tgtgcctgcc ctgcctctgc ctgaggcagc cgctcctgcc tgagcctgga catggggccc
     3061 ttccttgtgt tgccaattta ttaacagcaa ataaaccaat taaatggaga ctattaaata
     3121 actttatttt aaaaatga
//
