LOCUS       NM_178518               1981 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transmembrane protein 102 (TMEM102), transcript
            variant 2, mRNA.
ACCESSION   NM_178518
VERSION     NM_178518.3
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 1981)
  AUTHORS   Liao,W.T., Chiang,Y.J., Yang-Yen,H.F., Hsu,L.C., Chang,Z.F. and
            Yen,J.J.Y.
  TITLE     CBAP regulates the function of Akt-associated TSC protein complexes
            to modulate mTORC1 signaling
  JOURNAL   J Biol Chem 299 (12), 105455 (2023)
   PUBMED   37949232
  REMARK    GeneRIF: CBAP regulates the function of Akt-associated TSC protein
            complexes to modulate mTORC1 signaling.
            Erratum:[J Biol Chem. 2024 Feb;300(2):105686. doi:
            10.1016/j.jbc.2024.105686.. PMID: 38290174]
REFERENCE   2  (bases 1 to 1981)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1981)
  AUTHORS   Chiang,Y.J., Liao,W.T., Ho,K.C., Wang,S.H., Chen,Y.G., Ho,C.L.,
            Huang,S.F., Shih,L.Y., Yang-Yen,H.F. and Yen,J.J.
  TITLE     CBAP modulates Akt-dependent TSC2 phosphorylation to promote
            Rheb-mTORC1 signaling and growth of T-cell acute lymphoblastic
            leukemia
  JOURNAL   Oncogene 38 (9), 1432-1447 (2019)
   PUBMED   30266989
  REMARK    GeneRIF: our findings reveal a novel oncogenic contribution of CBAP
            in T-ALL leukemic cells, in addition to its original pro-apoptotic
            function in cytokine-dependent cell lines and primary hematopoietic
            cells, by demonstrating its functional role in the regulation of
            Akt-TSC2-mTORC1 signaling for leukemia cell proliferation. Thus,
            CBAP represents a novel therapeutic target for many types of
            cancers and metabolic diseases
REFERENCE   4  (bases 1 to 1981)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1981)
  AUTHORS   Chiang,Y.J., Ho,K.C., Sun,C.T., Chiu,J.J., Lee,F.J., Liao,F.,
            Yang-Yen,H.F. and Yen,J.J.
  TITLE     CBAP functions as a novel component in chemokine-induced
            ZAP70-mediated T-cell adhesion and migration
  JOURNAL   PLoS One 8 (4), e61761 (2013)
   PUBMED   23620790
  REMARK    GeneRIF: CBAP indeed can function as a novel signaling component
            within the ZAP70/Vav1/talin complex and plays an important role in
            regulating chemokine-promoted T-cell trafficking.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1981)
  AUTHORS   Westlake,C.J., Baye,L.M., Nachury,M.V., Wright,K.J., Ervin,K.E.,
            Phu,L., Chalouni,C., Beck,J.S., Kirkpatrick,D.S., Slusarski,D.C.,
            Sheffield,V.C., Scheller,R.H. and Jackson,P.K.
  TITLE     Primary cilia membrane assembly is initiated by Rab11 and transport
            protein particle II (TRAPPII) complex-dependent trafficking of
            Rabin8 to the centrosome
  JOURNAL   Proc Natl Acad Sci U S A 108 (7), 2759-2764 (2011)
   PUBMED   21273506
REFERENCE   7  (bases 1 to 1981)
  AUTHORS   Kao,C.J., Chiang,Y.J., Chen,P.H., Lin,K.R., Hwang,P.I.,
            Yang-Yen,H.F. and Yen,J.J.
  TITLE     CBAP interacts with the un-liganded common beta-subunit of the
            GM-CSF/IL-3/IL-5 receptor and induces apoptosis via mitochondrial
            dysfunction
  JOURNAL   Oncogene 27 (10), 1397-1403 (2008)
   PUBMED   17828305
  REMARK    GeneRIF: Modulates granulocyte-macrophage colony-stimulating
            factor-deprivation-induced apoptosis possibly via a novel mechanism
            involving interaction with an unliganded cytokine receptor common
            beta subunit molecule.
            GeneRIF: CBAP (Common receptor Beta chain Associating Protein) is a
            putative transmembrane protein which associates preferentially with
            unliganded GM-CSFR beta chain. It functions as a pro-apoptotic
            protein and is widely expressed in various cell types.
REFERENCE   8  (bases 1 to 1981)
  AUTHORS   Jin,J., Smith,F.D., Stark,C., Wells,C.D., Fawcett,J.P.,
            Kulkarni,S., Metalnikov,P., O'Donnell,P., Taylor,P., Taylor,L.,
            Zougman,A., Woodgett,J.R., Langeberg,L.K., Scott,J.D. and Pawson,T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC113189.11 and BC046189.1.
            
            On May 17, 2019 this sequence version replaced NM_178518.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC046189.1, SRR1163655.481397.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323206.2/ ENSP00000315387.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AC113189.11        85518-85525
            9-1981              BC046189.1         1-1973
FEATURES             Location/Qualifiers
     source          1..1981
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..1981
                     /gene="TMEM102"
                     /gene_synonym="CBAP; D2B"
                     /note="transmembrane protein 102"
                     /db_xref="GeneID:284114"
                     /db_xref="HGNC:HGNC:26722"
                     /db_xref="MIM:613936"
     exon            1..262
                     /gene="TMEM102"
                     /gene_synonym="CBAP; D2B"
                     /inference="alignment:Splign:2.1.0"
     exon            263..495
                     /gene="TMEM102"
                     /gene_synonym="CBAP; D2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             282..1808
                     /gene="TMEM102"
                     /gene_synonym="CBAP; D2B"
                     /note="common beta-chain associated protein; DANGER family
                     member 2B"
                     /codon_start=1
                     /product="transmembrane protein 102"
                     /protein_id="NP_848613.1"
                     /db_xref="CCDS:CCDS11104.1"
                     /db_xref="GeneID:284114"
                     /db_xref="HGNC:HGNC:26722"
                     /db_xref="MIM:613936"
                     /translation="MASAVWGSAPWWGPPPPAPARPLTDIDFCSGAQLQELTQLIQEL
                     GVQESWSDGPKPGADLLRAKDFVFSLLGLVHRRDPRFPPQAELLLLRGGIREGSLDLG
                     HAPLGPYARGPHYDAGFTLLVPMFSLDGTELQLDLESCYAQVCLPEMVCGTPIREMWQ
                     DCLGPPVPGARDSIHRTESEESSKDWQSSVDQPHSYVTEHEAPVSLEKSPSDVSASES
                     PQHDVVDLGSTAPLKTMSSDVTKAAVESPVPKPSEAREAWPTLCSAQVAAWFFATLAA
                     VAESLIPVPGAPRLVHAARHAGFTTVLLATPEPPRRLLLFDLIPVVSVAGWPEGARSH
                     SWAGPLASESASFYLVPGGGTERPCASAWQLCFARQELALKARIPAPLLQAHAAAQAL
                     LRPLVAGTRAAAPYLLRTLLYWACERLPALYLARPENAGACCLGLLDELGRVLEAGTL
                     PHYFLNGRQLRTGDDSAALLGELARLRGDPARALRAAVEEAKVARKGGGLAGVGGGAH
                     "
     exon            496..1981
                     /gene="TMEM102"
                     /gene_synonym="CBAP; D2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1804..1809
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM102"
                     /gene_synonym="CBAP; D2B"
                     /note="hexamer: ATTAAA"
     polyA_site      1825
                     /gene="TMEM102"
                     /gene_synonym="CBAP; D2B"
                     /note="major polyA site"
ORIGIN      
        1 gtggccacgt gggcatcagg aagaagtaac ctgttgaatc tatttctgct ccccaccctt
       61 actgcttccc ataaggggga agccgcagac taataagcct cttccaaaaa agaggtaaag
      121 ggaggtagac aaggggcggc agcggaggct ggctactgca ttccgtagga ggagccaaca
      181 gttacttttt acctgctgag tccggtgaac cagttcatgg gggcggggac ctgcctatga
      241 gaaaagggcc aggatagaag agcccaaagc gatagaaccg catggcttcc gcagtctggg
      301 ggagtgcccc ctggtggggc ccgccgcccc cggccccagc tcggccgctc acggacatcg
      361 acttctgctc cggggcgcag ctgcaggaat tgacccagct gatccaggag ctgggtgtgc
      421 aggagagctg gagtgacggg cccaagccgg gagccgatct cctccgggcc aaggactttg
      481 tcttctcttt gcttggtcta gttcaccgcc gggaccctcg ctttcctccc caggcagagc
      541 tcttgctgct tcgtggtggg attcgcgagg gctccctgga tctggggcat gcacccctgg
      601 gtccctacgc ccggggacct cactacgatg ccggcttcac actcctagtg cccatgtttt
      661 cactggacgg cactgaactg caactggacc tggaatcctg ttacgcacag gtctgcctcc
      721 cagagatggt gtgcggaacc cccatccggg agatgtggca ggattgctta ggacccccag
      781 tcccaggagc acgtgattcg atccaccgaa cggagagcga agaaagttcc aaggactggc
      841 aaagctctgt agaccagccg cacagctacg tcactgagca cgaggcgccg gtgtctttgg
      901 aaaaatcgcc tagtgacgtt tcagcgtccg agtcgcctca gcatgacgtc gtcgaccttg
      961 gctctaccgc acctttgaaa acaatgagta gtgacgtcac caaggcagcc gtcgaaagcc
     1021 cagtcccaaa gccgtcggag gctcgggaag cgtggcccac attatgttcc gcccaggtgg
     1081 ctgcctggtt ctttgctacg ctggcggcgg tcgccgagtc tctgatccct gtcccgggtg
     1141 ctccgcgtct ggtgcacgca gctcgccacg cgggtttcac caccgtcctc ctggctaccc
     1201 ctgagccccc tcgccgcctc ctgctcttcg acctgatccc agtggtgtcc gtggcgggct
     1261 ggcccgaggg ggctcggagc cactcgtggg ccggtccgct ggcctctgag tcggcttcct
     1321 tctacctggt gcccggtggc ggcaccgagc ggccgtgcgc ctccgcctgg cagctctgtt
     1381 ttgcccgcca ggagctggcg ctcaaagcgc gcataccagc gccgctgctg caggcgcacg
     1441 cggcggccca ggcgctactg cgcccgctgg tggccgggac ccgggcggcg gcgccctacc
     1501 tcctgcggac gctgctgtac tgggcgtgcg agcggctgcc tgcgctctac ctggcgcggc
     1561 cagaaaatgc gggcgcctgc tgcctcgggc tgctagacga gctcggccga gtgctcgagg
     1621 ccgggacgtt gcctcactat tttctgaacg gccgacagct ccgtacgggg gacgactccg
     1681 ctgcgctgct cggagaattg gcccggctcc gcggggaccc ggcccgggcc ctccgtgccg
     1741 cggtggagga ggccaaagtg gcccgcaagg ggggcggttt ggcgggcgtg gggggcgggg
     1801 cccattaaag acgctgttcc taccagtgga aagtgcctct gtgggcgagc gggacgtggg
     1861 gggccctgct cgcccctcgc cagggggact gactgtgtgc cctgggcctg aagcccccct
     1921 tctggaagac ctccctgttg gttcctcctc tacgcccacc cgcctgcccc cgcacaagtt
     1981 g
//
