LOCUS       NM_001286474            2166 bp    mRNA    linear   PRI 01-JUL-2024
DEFINITION  Homo sapiens testis expressed basic protein 1 (TSBP1), transcript
            variant 2, mRNA.
ACCESSION   NM_001286474 XM_005248809 XM_005272765 XM_005274911 XM_005275077
            XM_005275341 XM_005275508
VERSION     NM_001286474.2
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 2166)
  AUTHORS   Yang,W., Li,X., Li,X., Hu,B., Xu,S., Zhang,H., Wang,Y., Jin,T. and
            He,Y.
  TITLE     Impact of missense TSBP1 variants on the susceptibility to coronary
            heart disease
  JOURNAL   Gene 896, 148042 (2024)
   PUBMED   38042215
  REMARK    GeneRIF: Impact of missense TSBP1 variants on the susceptibility to
            coronary heart disease.
REFERENCE   2  (bases 1 to 2166)
  AUTHORS   Timasheva,Y., Nasibullin,T.R., Tuktarova,I.A., Erdman,V.V.,
            Galiullin,T.R., Zaplakhova,O.V. and Bakhtiiarova,K.Z.
  TITLE     Multilocus evaluation of genetic predictors of multiple sclerosis
  JOURNAL   Gene 809, 146008 (2022)
   PUBMED   34656742
  REMARK    GeneRIF: Multilocus evaluation of genetic predictors of multiple
            sclerosis.
REFERENCE   3  (bases 1 to 2166)
  AUTHORS   Hoh,B.P., Zhang,X., Deng,L., Yuan,K., Yew,C.W., Saw,W.Y.,
            Hoque,M.Z., Aghakhanian,F., Phipps,M.E., Teo,Y.Y., Subbiah,V.K. and
            Xu,S.
  TITLE     Shared Signature of Recent Positive Selection on the
            TSBP1-BTNL2-HLA-DRA Genes in Five Native Populations from North
            Borneo
  JOURNAL   Genome Biol Evol 12 (12), 2245-2257 (2020)
   PUBMED   33022050
  REMARK    GeneRIF: Shared Signature of Recent Positive Selection on the
            TSBP1-BTNL2-HLA-DRA Genes in Five Native Populations from North
            Borneo.
REFERENCE   4  (bases 1 to 2166)
  AUTHORS   Zhang,M., Ferrari,R., Tartaglia,M.C., Keith,J., Surace,E.I.,
            Wolf,U., Sato,C., Grinberg,M., Liang,Y., Xi,Z., Dupont,K.,
            McGoldrick,P., Weichert,A., McKeever,P.M., Schneider,R.,
            McCorkindale,M.D., Manzoni,C., Rademakers,R., Graff-Radford,N.R.,
            Dickson,D.W., Parisi,J.E., Boeve,B.F., Petersen,R.C., Miller,B.L.,
            Seeley,W.W., van Swieten,J.C., van Rooij,J., Pijnenburg,Y., van der
            Zee,J., Van Broeckhoven,C., Le Ber,I., Van Deerlin,V., Suh,E.,
            Rohrer,J.D., Mead,S., Graff,C., Oijerstedt,L., Pickering-Brown,S.,
            Rollinson,S., Rossi,G., Tagliavini,F., Brooks,W.S.,
            Dobson-Stone,C., Halliday,G.M., Hodges,J.R., Piguet,O., Binetti,G.,
            Benussi,L., Ghidoni,R., Nacmias,B., Sorbi,S., Bruni,A.C.,
            Galimberti,D., Scarpini,E., Rainero,I., Rubino,E., Clarimon,J.,
            Lleo,A., Ruiz,A., Hernandez,I., Pastor,P., Diez-Fairen,M.,
            Borroni,B., Pasquier,F., Deramecourt,V., Lebouvier,T.,
            Perneczky,R., Diehl-Schmid,J., Grafman,J., Huey,E.D., Mayeux,R.,
            Nalls,M.A., Hernandez,D., Singleton,A., Momeni,P., Zeng,Z.,
            Hardy,J., Robertson,J., Zinman,L. and Rogaeva,E.
  CONSRTM   International FTD-Genomics Consortium (IFGC)
  TITLE     A C6orf10/LOC101929163 locus is associated with age of onset in
            C9orf72 carriers
  JOURNAL   Brain 141 (10), 2895-2907 (2018)
   PUBMED   30252044
  REMARK    GeneRIF: Our findings suggest that CpG-single nucleotide
            polymorphisms at the C6orf10/LOC101929163 locus might modify age of
            onset in C9orf72 carriers belonging to the entire amyotrophic
            lateral sclerosis-frontotemporal dementia spectrum by controlling
            DNA methylation and gene expression
REFERENCE   5  (bases 1 to 2166)
  AUTHORS   Chung,S.A., Brown,E.E., Williams,A.H., Ramos,P.S., Berthier,C.C.,
            Bhangale,T., Alarcon-Riquelme,M.E., Behrens,T.W., Criswell,L.A.,
            Graham,D.C., Demirci,F.Y., Edberg,J.C., Gaffney,P.M., Harley,J.B.,
            Jacob,C.O., Kamboh,M.I., Kelly,J.A., Manzi,S., Moser-Sivils,K.L.,
            Russell,L.P., Petri,M., Tsao,B.P., Vyse,T.J., Zidovetzki,R.,
            Kretzler,M., Kimberly,R.P., Freedman,B.I., Graham,R.R. and
            Langefeld,C.D.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
  TITLE     Lupus nephritis susceptibility loci in women with systemic lupus
            erythematosus
  JOURNAL   J Am Soc Nephrol 25 (12), 2859-2870 (2014)
   PUBMED   24925725
REFERENCE   6  (bases 1 to 2166)
  AUTHORS   Behrens,E.M., Finkel,T.H., Bradfield,J.P., Kim,C.E., Linton,L.,
            Casalunovo,T., Frackelton,E.C., Santa,E., Otieno,F.G.,
            Glessner,J.T., Chiavacci,R.M., Grant,S.F. and Hakonarson,H.
  TITLE     Association of the TRAF1-C5 locus on chromosome 9 with juvenile
            idiopathic arthritis
  JOURNAL   Arthritis Rheum 58 (7), 2206-2207 (2008)
   PUBMED   18576341
REFERENCE   7  (bases 1 to 2166)
  AUTHORS   Styrkarsdottir,U., Halldorsson,B.V., Gretarsdottir,S.,
            Gudbjartsson,D.F., Walters,G.B., Ingvarsson,T., Jonsdottir,T.,
            Saemundsdottir,J., Center,J.R., Nguyen,T.V., Bagger,Y.,
            Gulcher,J.R., Eisman,J.A., Christiansen,C., Sigurdsson,G., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Multiple genetic loci for bone mineral density and fractures
  JOURNAL   N Engl J Med 358 (22), 2355-2365 (2008)
   PUBMED   18445777
REFERENCE   8  (bases 1 to 2166)
  AUTHORS   Comabella,M., Craig,D.W., Camina-Tato,M., Morcillo,C., Lopez,C.,
            Navarro,A., Rio,J., Montalban,X. and Martin,R.
  CONSRTM   BiomarkerMS Study Group
  TITLE     Identification of a novel risk locus for multiple sclerosis at
            13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide
            polymorphisms
  JOURNAL   PLoS One 3 (10), e3490 (2008)
   PUBMED   18941528
REFERENCE   9  (bases 1 to 2166)
  AUTHORS   Ficarro,S., Chertihin,O., Westbrook,V.A., White,F., Jayes,F.,
            Kalab,P., Marto,J.A., Shabanowitz,J., Herr,J.C., Hunt,D.F. and
            Visconti,P.E.
  TITLE     Phosphoproteome analysis of capacitated human sperm. Evidence of
            tyrosine phosphorylation of a kinase-anchoring protein 3 and
            valosin-containing protein/p97 during capacitation
  JOURNAL   J Biol Chem 278 (13), 11579-11589 (2003)
   PUBMED   12509440
REFERENCE   10 (bases 1 to 2166)
  AUTHORS   Stammers,M., Rowen,L., Rhodes,D., Trowsdale,J. and Beck,S.
  TITLE     BTL-II: a polymorphic locus with homology to the butyrophilin gene
            family, located at the border of the major histocompatibility
            complex class II and class III regions in human and mouse
  JOURNAL   Immunogenetics 51 (4-5), 373-382 (2000)
   PUBMED   10803852
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK225742.1, AK310230.1, BC034774.1, U60665.1 and BX113229.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001286474.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site and includes an additional in-frame exon in the 5'
            coding region, and also includes two additional in-frame exons in
            the central coding region, compared to variant 1. The encoded
            isoform (b) is shorter than 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 :: AK225742.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142586 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000533191.6/ ENSP00000431199.1
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-717               AK225742.1         1-717
            718-718             AK310230.1         695-695
            719-1726            AK225742.1         719-1726
            1727-2081           BC034774.1         1709-2063
            2082-2156           U60665.1           2112-2186
            2157-2166           BX113229.1         712-721
FEATURES             Location/Qualifiers
     source          1..2166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..2166
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /note="testis expressed basic protein 1"
                     /db_xref="GeneID:10665"
                     /db_xref="HGNC:HGNC:13922"
                     /db_xref="MIM:618151"
     exon            1..210
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..1883
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /note="isoform b is encoded by transcript variant 2;
                     testis specific basic protein; uncharacterized protein
                     C6orf10"
                     /codon_start=1
                     /product="testis-expressed basic protein 1 isoform b"
                     /protein_id="NP_001273403.1"
                     /db_xref="CCDS:CCDS69082.1"
                     /db_xref="GeneID:10665"
                     /db_xref="HGNC:HGNC:13922"
                     /db_xref="MIM:618151"
                     /translation="MTVLEITLAVILTLLGLAILAILLTRWARCKQSEMYISRYSSEQ
                     SARLLDYEDGRGSRHAYSTQSDTSYDNRERSKRDYTPSTNSLALSRSSIALPQGSMSS
                     IKCLQTTEEPPSRTAGAMMQFTAPIPGATGPIKLSQKTIVQTPGPIVQYPGSNAGPPS
                     APRGPPMAPIIISQRTASQLAAPIIISQRTARIPQVHTMDSSGKITLTPVVILTGYMD
                     EELAKKSCSKIQILKCGGTARSQNSREENKEALKNDIIFTNSVESLKSAHIKEPEREG
                     KGTDLEKDKIGMEVKVDSDAGIPKRQETQLKISEMSIPQGQGAQIKKSVSDVPRGQES
                     QVKKSESGVPKGQEAQVTKSGLVVLKGQEAQVEKSEMGVPRRQESQVKKSQSGVSKGQ
                     EAQVKKRESVVLKGQEAQVEKSELKVPKGQEGQVEKTEADVPKEQEVQEKKSEAGVLK
                     GPESQVKNTEVSVPETLESQVKKSESGVLKGQEAQEKKESFEDKGNNDKEKERDAEKD
                     PNKKEKGDKNTKGDKGKDKVKGKRESEINGEKSKGSKRAKANTGRKYNKKVEE"
     exon            211..297
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            298..330
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            331..363
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            364..393
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            394..414
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            415..435
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            436..456
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            457..477
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            478..498
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            499..537
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            538..558
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            559..579
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            580..600
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            601..621
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            622..642
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            643..663
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            664..687
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            688..708
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            709..729
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            730..750
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            751..771
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            772..792
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            793..813
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            814..828
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            829..2166
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2147..2152
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /note="hexamer: ATTAAA"
     polyA_site      2166
                     /gene="TSBP1"
                     /gene_synonym="C6orf10; TSBP"
                     /note="major polyA site"
ORIGIN      
        1 atcatttgct taggtctgat caatctgctc cacacaattt ctcagtgatc ctctgcatct
       61 ctgcctacaa gggcctccct gacacccaag ttcatattgc tcagaaacag tgaacttgag
      121 tttttcgttt taccttgatc tctctctgac aaagaaatcc agatgatgcg agacctgatg
      181 aagacaatac atggaaaatg acagtcttgg aaataacttt ggctgtcatc ctgactctac
      241 tgggacttgc catcctggct attttgttaa caagatgggc acgatgtaag caaagtgaaa
      301 tgtatatctc cagatacagt tcagaacaaa gtgctagact tctggactat gaggatggta
      361 gaggatcccg acatgcatat tcaacacaaa gtgacacttc atatgataac cgagagagat
      421 ccaaaagaga ttacacacca tcaaccaact ctctagcact gtctcgatca agtattgctt
      481 tacctcaagg atccatgagt agtataaaat gtttacaaac aactgaagaa cctccttcca
      541 gaactgcagg agccatgatg caattcacag cccctattcc cggagctaca ggacctatca
      601 agctctctca aaaaaccatt gtgcaaactc caggacctat tgtacaatat cctggatcca
      661 atgctggtcc accttcagca ccccgcggtc cacccatggc acccataata atttcacaga
      721 gaaccgcaag tcagctggca gcacctataa taatttcgca gagaactgca agaatacctc
      781 aagttcacac tatggacagt tctggaaaaa tcacactgac tcctgtggtt atattaacag
      841 gttacatgga tgaagaactt gcaaaaaaat cttgttccaa aatccagatt ctaaaatgtg
      901 gaggcactgc aaggtctcag aatagccgag aagaaaacaa ggaagcacta aagaatgaca
      961 tcatatttac gaattctgta gaatccttga aatcagcaca cataaaggag ccagaaagag
     1021 aaggaaaagg cactgattta gagaaagaca aaataggaat ggaggtcaag gtagacagtg
     1081 acgctggaat accaaaaaga caggaaaccc aactaaaaat cagtgagatg agtataccac
     1141 aaggacaggg agcccaaata aagaaaagtg tgtcagatgt accaagagga caggagtccc
     1201 aagtaaagaa gagtgagtca ggtgtcccaa aaggacaaga agcccaagta acgaagagtg
     1261 ggttggttgt actgaaagga caggaagccc aggtagagaa gagtgagatg ggtgtgccaa
     1321 gaagacagga atcccaagta aagaagagtc agtctggtgt ctcaaaggga caggaagccc
     1381 aggtaaagaa gagggagtca gttgtactga aaggacagga agcccaggta gagaagagtg
     1441 agttgaaggt accaaaagga caagaaggcc aagtagagaa gactgaggca gatgtgccaa
     1501 aggaacaaga ggtccaagaa aagaagagtg aggcaggtgt actgaaagga ccagaatccc
     1561 aagtaaagaa cactgaggtg agtgtaccag aaacactgga atcccaagta aagaagagtg
     1621 agtcaggtgt actaaaagga caggaagccc aagaaaagaa ggagagtttt gaggataaag
     1681 gaaataatga taaagaaaag gagagagatg cagagaaaga tccaaataaa aaagaaaaag
     1741 gtgacaaaaa cacaaaaggt gacaaaggaa aggacaaagt taaaggaaag agagaatcag
     1801 aaatcaatgg tgaaaaatca aaaggctcga aaagggcgaa ggcaaataca ggaaggaagt
     1861 acaacaaaaa agtggaagag taaggataaa ttttttaaag gcccataaga caagtgatta
     1921 ttatgattcc catactccag atacaaacca tatcccagcc attgcctaaa cagattacaa
     1981 ttataaaatc cctttcatct tcatatcaca gtttctgctc ttcagaagtt tcaccctttt
     2041 taatctctca gccacaaacc tcagtttcca aatatttgtt ttataagtta agacgtatat
     2101 gattccgtca agaaagactg gatactttct gaagtaaaac attttaatta aagaaatata
     2161 tagtaa
//
