LOCUS       NM_015638               3162 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens transient receptor potential cation channel subfamily
            C member 4 associated protein (TRPC4AP), transcript variant 1,
            mRNA.
ACCESSION   NM_015638
VERSION     NM_015638.3
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 3162)
  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 3162)
  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 3162)
  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 3162)
  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 3162)
  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 3162)
  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 3162)
  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 3162)
  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 3162)
  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 3162)
  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 Nov 22, 2018 this sequence version replaced NM_015638.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR1660809.31176.1,
                                           SRR1660803.37423.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252015.3/ ENSP00000252015.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
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
            503-2946            BC013144.1         480-2923
            2947-3016           BM723903.1         160-229             c
            3017-3159           BC013144.1         2994-3136
            3160-3162           BC008836.2         1534-1536
FEATURES             Location/Qualifiers
     source          1..3162
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..3162
                     /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..2420
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /note="isoform a is encoded by transcript variant 1; 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 a"
                     /protein_id="NP_056453.1"
                     /db_xref="CCDS:CCDS13246.1"
                     /db_xref="GeneID:26133"
                     /db_xref="HGNC:HGNC:16181"
                     /db_xref="MIM:608430"
                     /translation="MAAAPVAAGSGAGRGRRSAATVAAWGGWGGRPRPGNILLQLRQG
                     QLTGRGLVRAVQFTETFLTERDKQSKWSGIPQLLLKLHTTSHLHSDFVECQNILKEIS
                     PLLSMEAMAFVTEERKLTQETTYPNTYIFDLFGGVDLLVEILMRPTISIRGQKLKISD
                     EMSKDCLSILYNTCVCTEGVTKRLAEKNDFVIFLFTLMTSKKTFLQTATLIEDILGVK
                     KEMIRLDEVPNLSSLVSNFDQQQLANFCRILAVTISEMDTGNDDKHTLLAKNAQQKKS
                     LSLGPSAAEINQAALLSIPGFVERLCKLATRKVSESTGTASFLQELEEWYTWLDNALV
                     LDALMRVANEESEHNQASIVFPPPGASEENGLPHTSARTQLPQSMKIMHEIMYKLEVL
                     YVLCVLLMGRQRNQVHRMIAEFKLIPGLNNLFDKLIWRKHSASALVLHGHNQNCDCSP
                     DITLKIQFLRLLQSFSDHHENKYLLLNNQELNELSAISLKANIPEVEAVLNTDRSLVC
                     DGKRGLLTRLLQVMKKEPAESSFRFWQARAVESFLRGTTSYADQMFLLKRGLLEHILY
                     CIVDSECKSRDVLQSYFDLLGELMKFNVDAFKRFNKYINTDAKFQVFLKQINSSLVDS
                     NMLVRCVTLSLDRFENQVDMKVAEVLSECRLLAYISQVPTQMSFLFRLINIIHVQTLT
                     QENVSCLNTSLVILMLARRKERLPLYLRLLQRMEHSKKYPGFLLNNFHNLLRFWQQHY
                     LHKDKDSTCLENSSCISFSYWKETVSILLNPDRQSPSALVSYIEEPYMDIDRDFTEE"
     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..1244
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1376
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1435
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1537
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..1621
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1622..1712
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1713..1853
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1854..1962
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1963..2075
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            2076..2282
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     exon            2283..3162
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3137..3142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPC4AP"
                     /gene_synonym="C20orf188; PPP1R158; TRRP4AP; TRUSS"
                     /note="hexamer: ATTAAA"
     polyA_site      3162
                     /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 aatcaagcct
     1081 ccattgtgtt ccctcctcca ggggcttctg aggagaatgg cctgcctcac acgtcagcca
     1141 gaacccagct gccccagtca atgaagatta tgcatgagat catgtacaaa ctggaagtgc
     1201 tctatgtcct ctgcgtgctg ctgatggggc gtcagcgaaa ccaggttcac agaatgattg
     1261 cagagttcaa gctgatccct ggacttaata atttgtttga caaactgatt tggaggaagc
     1321 attcagcatc tgcccttgtc ctccatggtc acaaccagaa ctgtgactgt agcccggaca
     1381 tcaccttgaa gatacagttt ttgaggcttc ttcagagctt cagtgaccac cacgagaaca
     1441 agtacttgtt actcaacaac caggagctga atgaactcag tgccatctct ctcaaggcca
     1501 acatccctga ggtggaagct gtcctcaaca ccgacaggag tttggtgtgt gatgggaaga
     1561 ggggcttatt aactcgtctg ctgcaggtca tgaagaagga gccagcagag tcgtctttca
     1621 ggttttggca agctcgggct gtggagagtt tcctccgagg gaccacctcc tatgcagacc
     1681 agatgttcct gctgaagcga ggcctcttgg agcacatcct ttactgcatt gtggacagcg
     1741 agtgtaagtc aagggatgtg ctccagagtt actttgacct cctgggggag ctgatgaagt
     1801 tcaacgttga tgcattcaag agattcaata aatatatcaa caccgatgca aagttccagg
     1861 tattcctgaa gcagatcaac agctccctgg tggactccaa catgctggtg cgctgtgtca
     1921 ctctgtccct ggaccgattt gaaaaccagg tggatatgaa agttgccgag gtactgtctg
     1981 aatgccgcct gctcgcctac atatcccagg tgcccacgca gatgtccttc ctcttccgcc
     2041 tcatcaacat catccacgtg cagacgctga cccaggagaa cgtcagctgc ctcaacacca
     2101 gcctggtgat cctgatgctg gcccgacgga aagagcggct gcccctgtac ctgcggctgc
     2161 tgcagcggat ggagcacagc aagaagtacc ccggcttcct gctcaacaac ttccacaacc
     2221 tgctgcgctt ctggcagcag cactacctgc acaaggacaa ggacagcacc tgcctagaga
     2281 acagctcctg catcagcttc tcatactgga aggagacagt gtccatcctg ttgaacccgg
     2341 accggcagtc accctctgct ctcgttagct acattgagga gccctacatg gacatagaca
     2401 gggacttcac tgaggagtga ccttgggcca ggcctcggga ggctgctggg ccagtgtggg
     2461 tgagcgtggg tacgatgcca cacgccctgc cctgttcccg ttcctccctg ctgctctctg
     2521 cctgccccag gtctttgggt acaggcttgg tgggagggaa gtcctagaag cccttggtcc
     2581 ccctgggtct gagggcccta ggtcatggag agcctcagtc cccataatga ggacagggta
     2641 ccatgcccac ctttccttca gaaccctggg gcccagggcc acccagaggt aagaggacat
     2701 ttagcattag ctctgtgtga gctcctgccg gtttcttggc tgtcagtcag tcccagagtg
     2761 gggaggaaga tatgggtgac ccccaccccc catctgtgag ccaagcctcc cttgtccctg
     2821 gcctttggac ccaggcaaag gcttctgagc cctgggcagg ggtggtgggt accagagaat
     2881 gctgccttcc cccaagcctg cccctctgcc tcattttcct gtagctcctc tggttctgtt
     2941 tgctcattgg ccgctgtgtt catccaaggg ggttctccca gaagtgaggg gcctttccct
     3001 ccatcccttg gggcacgggg cagctgtgcc tgccctgcct ctgcctgagg cagccgctcc
     3061 tgcctgagcc tggacatggg gcccttcctt gtgttgccaa tttattaaca gcaaataaac
     3121 caattaaatg gagactatta aataacttta ttttaaaaat ga
//
