LOCUS       NM_139243               1963 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens adenosine deaminase domain containing 1 (ADAD1),
            transcript variant 1, mRNA.
ACCESSION   NM_139243
VERSION     NM_139243.4
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 1963)
  AUTHORS   Alberdi-Saugstrup,M., Enevold,C., Zak,M., Nielsen,S., Nordal,E.,
            Berntson,L., Fasth,A., Rygg,M. and Muller,K.
  CONSRTM   Nordic Study Group of Pediatric Rheumatology (NoSPeR)
  TITLE     Non-HLA gene polymorphisms in juvenile idiopathic arthritis:
            associations with disease outcome
  JOURNAL   Scand J Rheumatol 46 (5), 369-376 (2017)
   PUBMED   28145159
  REMARK    GeneRIF: ADAD1_rs17388568 AA was associated with a lower risk of
            having joints with Limitation of motion in patients with Juvenile
            Idiopathic Arthritis.
REFERENCE   2  (bases 1 to 1963)
  AUTHORS   Garner,C., Ahn,R., Ding,Y.C., Steele,L., Stoven,S., Green,P.H.,
            Fasano,A., Murray,J.A. and Neuhausen,S.L.
  TITLE     Genome-wide association study of celiac disease in North America
            confirms FRMD4B as new celiac locus
  JOURNAL   PLoS One 9 (7), e101428 (2014)
   PUBMED   24999842
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1963)
  AUTHORS   Bonnelykke,K., Matheson,M.C., Pers,T.H., Granell,R., Strachan,D.P.,
            Alves,A.C., Linneberg,A., Curtin,J.A., Warrington,N.M., Standl,M.,
            Kerkhof,M., Jonsdottir,I., Bukvic,B.K., Kaakinen,M., Sleimann,P.,
            Thorleifsson,G., Thorsteinsdottir,U., Schramm,K., Baltic,S.,
            Kreiner-Moller,E., Simpson,A., St Pourcain,B., Coin,L., Hui,J.,
            Walters,E.H., Tiesler,C.M.T., Duffy,D.L., Jones,G., Ring,S.M.,
            McArdle,W.L., Price,L., Robertson,C.F., Pekkanen,J., Tang,C.S.,
            Thiering,E., Montgomery,G.W., Hartikainen,A.L., Dharmage,S.C.,
            Husemoen,L.L., Herder,C., Kemp,J.P., Elliot,P., James,A.,
            Waldenberger,M., Abramson,M.J., Fairfax,B.P., Knight,J.C.,
            Gupta,R., Thompson,P.J., Holt,P., Sly,P., Hirschhorn,J.N.,
            Blekic,M., Weidinger,S., Hakonarsson,H., Stefansson,K.,
            Heinrich,J., Postma,D.S., Custovic,A., Pennell,C.E., Jarvelin,M.R.,
            Koppelman,G.H., Timpson,N., Ferreira,M.A., Bisgaard,H. and
            Henderson,A.J.
  CONSRTM   AAGC
  TITLE     Meta-analysis of genome-wide association studies identifies ten
            loci influencing allergic sensitization
  JOURNAL   Nat Genet 45 (8), 902-906 (2013)
   PUBMED   23817571
REFERENCE   4  (bases 1 to 1963)
  AUTHORS   Hinds,D.A., McMahon,G., Kiefer,A.K., Do,C.B., Eriksson,N.,
            Evans,D.M., St Pourcain,B., Ring,S.M., Mountain,J.L., Francke,U.,
            Davey-Smith,G., Timpson,N.J. and Tung,J.Y.
  TITLE     A genome-wide association meta-analysis of self-reported allergy
            identifies shared and allergy-specific susceptibility loci
  JOURNAL   Nat Genet 45 (8), 907-911 (2013)
   PUBMED   23817569
REFERENCE   5  (bases 1 to 1963)
  AUTHORS   Plagnol,V., Howson,J.M., Smyth,D.J., Walker,N., Hafler,J.P.,
            Wallace,C., Stevens,H., Jackson,L., Simmonds,M.J., Bingley,P.J.,
            Gough,S.C. and Todd,J.A.
  CONSRTM   Type 1 Diabetes Genetics Consortium
  TITLE     Genome-wide association analysis of autoantibody positivity in type
            1 diabetes cases
  JOURNAL   PLoS Genet 7 (8), e1002216 (2011)
   PUBMED   21829393
REFERENCE   6  (bases 1 to 1963)
  AUTHORS   Hunt,K.A., Zhernakova,A., Turner,G., Heap,G.A., Franke,L.,
            Bruinenberg,M., Romanos,J., Dinesen,L.C., Ryan,A.W., Panesar,D.,
            Gwilliam,R., Takeuchi,F., McLaren,W.M., Holmes,G.K., Howdle,P.D.,
            Walters,J.R., Sanders,D.S., Playford,R.J., Trynka,G., Mulder,C.J.,
            Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M., O'Morain,C.,
            Kennedy,N.P., Kelleher,D., Pennington,D.J., Strachan,D.P.,
            McArdle,W.L., Mein,C.A., Wapenaar,M.C., Deloukas,P., McGinnis,R.,
            McManus,R., Wijmenga,C. and van Heel,D.A.
  TITLE     Newly identified genetic risk variants for celiac disease related
            to the immune response
  JOURNAL   Nat Genet 40 (4), 395-402 (2008)
   PUBMED   18311140
REFERENCE   7  (bases 1 to 1963)
  AUTHORS   van Heel,D.A., Franke,L., Hunt,K.A., Gwilliam,R., Zhernakova,A.,
            Inouye,M., Wapenaar,M.C., Barnardo,M.C., Bethel,G., Holmes,G.K.,
            Feighery,C., Jewell,D., Kelleher,D., Kumar,P., Travis,S.,
            Walters,J.R., Sanders,D.S., Howdle,P., Swift,J., Playford,R.J.,
            McLaren,W.M., Mearin,M.L., Mulder,C.J., McManus,R., McGinnis,R.,
            Cardon,L.R., Deloukas,P. and Wijmenga,C.
  TITLE     A genome-wide association study for celiac disease identifies risk
            variants in the region harboring IL2 and IL21
  JOURNAL   Nat Genet 39 (7), 827-829 (2007)
   PUBMED   17558408
  REMARK    GeneRIF: Genetic variation in a linkage disequilibrium block
            encompassing the KIAA1109-TENR-IL2-IL21 genes predisposes to celiac
            disease.
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 1963)
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Genome-wide association study of 14,000 cases of seven common
            diseases and 3,000 shared controls
  JOURNAL   Nature 447 (7145), 661-678 (2007)
   PUBMED   17554300
REFERENCE   9  (bases 1 to 1963)
  AUTHORS   Mian,I.S., Moser,M.J., Holley,W.R. and Chatterjee,A.
  TITLE     Statistical modelling and phylogenetic analysis of a deaminase
            domain
  JOURNAL   J Comput Biol 5 (1), 57-72 (1998)
   PUBMED   9541871
REFERENCE   10 (bases 1 to 1963)
  AUTHORS   Schumacher,J.M., Lee,K., Edelhoff,S. and Braun,R.E.
  TITLE     Distribution of Tenr, an RNA-binding protein, in a lattice-like
            network within the spermatid nucleus in the mouse
  JOURNAL   Biol Reprod 52 (6), 1274-1283 (1995)
   PUBMED   7543294
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB058857.1 and AK057303.1.
            
            On Nov 22, 2018 this sequence version replaced NM_139243.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: AK057303.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296513.7/ ENSP00000296513.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DB058857.1         6-7
            3-1963              AK057303.1         2-1962
FEATURES             Location/Qualifiers
     source          1..1963
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q27"
     gene            1..1963
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /note="adenosine deaminase domain containing 1"
                     /db_xref="GeneID:132612"
                     /db_xref="HGNC:HGNC:30713"
                     /db_xref="MIM:614130"
     exon            1..105
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            106..179
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            180..359
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     CDS             188..1918
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /note="isoform 1 is encoded by transcript variant 1;
                     adenosine deaminase domain-containing protein 1; testis
                     nuclear RNA-binding protein; adenosine deaminase domain
                     containing 1 (testis-specific); testis tissue
                     sperm-binding protein Li 92mP"
                     /codon_start=1
                     /product="adenosine deaminase domain-containing protein 1
                     isoform 1"
                     /protein_id="NP_640336.1"
                     /db_xref="CCDS:CCDS34058.1"
                     /db_xref="GeneID:132612"
                     /db_xref="HGNC:HGNC:30713"
                     /db_xref="MIM:614130"
                     /translation="MASNNHWFQSSQVPSFAQMLKKNLPVQPATKTITTPTGWSSESY
                     GLSKMASKVTQVTGNFPEPLLSKNLSSISNPVLPPKKIPKEFIMKYKRGEINPVSALH
                     QFAQMQRVQLDLKETVTTGNVMGPYFAFCAVVDGIQYKTGLGQNKKESRSNAAKLALD
                     ELLQLDEPEPRILETSGPPPFPAEPVVLSELAYVSKVHYEGRHIQYAKISQIVKERFN
                     QLISNRSEYLKYSSSLAAFIIERAGQHEVVAIGTGEYNYSQDIKPDGRVLHDTHAVVT
                     ARRSLLRYFYRQLLLFYSKNPAMMEKSIFCTEPTSNLLTLKQNINICLYMNQLPKGSA
                     QIKSQLRLNPHSISAFEANEELCLHVAVEGKIYLTVYCPKDGVNRISSMSSSDKLTRW
                     EVLGVQGALLSHFIQPVYISSILIGDGNCSDTRGLEIAIKQRVDDALTSKLPMFYLVN
                     RPHISLVPSAYPLQMNLEYKFLSLNWAQGDVSLEIVDGLSGKITESSPFKSGMSMASR
                     LCKAAMLSRFNLLAKEAKKELLEAGTYHAAKCMSASYQEAKCKLKSYLQQHGYGSWIV
                     KSPCIEQFNM"
     exon            360..548
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            549..716
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            717..785
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            786..911
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1035
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1206
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..1436
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..1674
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            1675..1804
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     exon            1805..1963
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1939..1944
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /note="hexamer: ATTAAA"
     polyA_site      1963
                     /gene="ADAD1"
                     /gene_synonym="Tenr"
                     /note="major polyA site"
ORIGIN      
        1 gtaaacagga aggccacagt ggaggccaag ccttccccat gggcaccttc tcagattgcg
       61 attgtggatg aaatgaggga ttttcttgaa acaaccctca cgcaggtgac gcaagacgcg
      121 gagctcggct gcacgacgct ggcgcaagcg cgggggcaag agcgccggcc tccgagacgg
      181 tgagaaaatg gctagcaaca atcattggtt tcagagttcg caggtcccca gctttgccca
      241 gatgctgaaa aagaacctgc cagttcaacc agcgacaaag acgataacta cacccacagg
      301 atggtcctca gaaagttacg gcctgtccaa gatggcatcc aaggttacgc aagtaacggg
      361 taattttcca gagccgttgc tttccaagaa tctttcatct atttcaaatc ctgtccttcc
      421 tccaaaaaaa atacctaagg aatttataat gaaatacaaa cgtggagaga taaatcctgt
      481 gtcagccttg caccagtttg cacaaatgca gcgagttcag cttgacctta aggaaactgt
      541 gacaacaggt aatgttatgg gaccatattt tgccttttgt gctgtggtgg atggtattca
      601 gtacaagact ggactgggac aaaataaaaa ggagtctaga tccaatgcag caaaattagc
      661 tcttgatgag cttctacaac tggatgaacc tgaaccacga attttagaaa catcaggtcc
      721 tcctcctttc cctgcagaac ctgttgtttt atctgaacta gcatatgttt caaaagtaca
      781 ttatgaaggg agacatattc aatatgcaaa gatttcacag atcgttaaag aaagatttaa
      841 tcaactaatt tctaatcgtt cagaatacct gaaatatagc agttcattgg ctgcttttat
      901 aattgaaaga gctggacaac atgaggttgt agctataggc acaggtgaat acaattacag
      961 ccaggacatt aagccagatg gaagagtatt gcatgacact catgctgttg ttacagcaag
     1021 aaggtctctt cttaggtact tttatagaca acttctgctc ttctacagca aaaatcctgc
     1081 tatgatggaa aaatcaatat tttgtacaga accaacttct aatctactca ctcttaaaca
     1141 gaatatcaac atttgccttt acatgaacca gttgcctaaa ggatcagccc agattaagtc
     1201 acagttacgt cttaatccac attctatatc tgcatttgaa gccaatgaag aactctgtct
     1261 ccacgtggct gttgaaggca aaatttatct gactgtttac tgtcctaaag atggtgttaa
     1321 tagaataagc agtatgtcct caagtgacaa attgaccaga tgggaagtgc ttggtgtaca
     1381 gggagcattg ctgagtcatt ttatacagcc agtttacatc agcagtatac ttattggtga
     1441 tgggaattgc agtgatacca gaggcttaga aatcgctata aagcaacgtg ttgatgatgc
     1501 actcacttca aaacttccaa tgttttactt agtcaacaga cctcatatta gtttagtacc
     1561 ctctgcatat ccccttcaaa tgaacttgga atataaattt ctgagtctga attgggcaca
     1621 aggagatgtt tctttggaga ttgtggatgg cctgagtggg aagatcactg aaagttcccc
     1681 atttaaaagt ggtatgtcaa tggcaagtcg gctttgtaag gctgcaatgt taagtcggtt
     1741 taacctgctt gccaaagaag ctaaaaaaga attacttgaa gctggtacat atcatgcagc
     1801 taagtgtatg tctgcctcct atcaagaagc taaatgtaag ttgaaatcct acttacaaca
     1861 acatggctat ggatcctgga ttgtgaaatc tccctgcata gagcaattta acatgtgaaa
     1921 taggcaatcc attatcacat taaaaatctt gttttgtttg gtg
//
