LOCUS       NM_001282788            1710 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens golgi associated RAB2 interactor 1B (GARIN1B),
            transcript variant 2, mRNA.
ACCESSION   NM_001282788 XM_005250646
VERSION     NM_001282788.3
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 1710)
  AUTHORS   Morohoshi,A., Miyata,H., Oyama,Y., Oura,S., Noda,T. and Ikawa,M.
  TITLE     FAM71F1 binds to RAB2A and RAB2B and is essential for acrosome
            formation and male fertility in mice
  JOURNAL   Development 148 (21) (2021)
   PUBMED   34714330
REFERENCE   2  (bases 1 to 1710)
  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 1710)
  AUTHORS   Zlatohlavek,L., Maratka,V., Tumova,E., Ceska,R., Lanska,V.,
            Vrablik,M. and Hubacek,J.A.
  TITLE     Body Adiposity Changes After Lifestyle Interventions in
            Children/Adolescents and the NYD-SP18 and TMEM18 Variants
  JOURNAL   Med Sci Monit 24, 7493-7498 (2018)
   PUBMED   30341978
  REMARK    GeneRIF: Decreased body weight in overweight/obese children is not
            significantly influenced by the NYD-SP18 rs6971091 or TMEM18
            rs4854344 polymorphisms.  Gene Indexing Project Expand All Collapse
            All Decreased body weight in overweight/obese children is not
            significantly influenced by the NYD-SP18 rs6971091 or TMEM18
            rs4854344 polymorphisms.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1710)
  AUTHORS   Hubacek,J.A., Pikhart,H., Kubinova,R., Peasey,A., Malyutina,S.,
            Pajak,A., Tamosiunas,A. and Bobak,M.
  TITLE     Lack of Association between NYD-SP18 Variant and Obesity. The
            Health Alcohol and Psychosocial Factors in Eastern Europe Study
  JOURNAL   Ann Nutr Metab 68 (4), 244-248 (2016)
   PUBMED   27237450
  REMARK    GeneRIF: genetic association studies in populations in Eastern
            Europe (Czech Republic, Lithuania, Poland, and Russia): Data
            suggest that an SNP in NYD-SP18 (rs6971091) is not associated with
            overweight/obesity in the adult populations studied (aged 45-75).
REFERENCE   5  (bases 1 to 1710)
  AUTHORS   Suchanek,P., Lanska,V. and Hubacek,J.A.
  TITLE     Body Composition Changes in Adult Females after Lifestyle
            Intervention Are Influenced by the NYD-SP18 Variant
  JOURNAL   Cent Eur J Public Health 23 Suppl, S19-S22 (2015)
   PUBMED   26849538
  REMARK    GeneRIF: Overweight/obese female carriers of the NYD-SP18 rs6971091
            GG genotype exhibited a more beneficial response to the intensive
            lifestyle intervention than others.
REFERENCE   6  (bases 1 to 1710)
  AUTHORS   Hubacek,J.A., Dlouha,D., Lanska,V. and Adamkova,V.
  TITLE     Strong gender-specific additive effects of the NYD-SP18 and FTO
            variants on BMI values
  JOURNAL   Physiol Res 64 (Suppl 3), S419-S426 (2015)
   PUBMED   26680676
  REMARK    GeneRIF: Genetic variants within NYD-SP18 genes revealed a
            significant additive effect on BMI values in males.
REFERENCE   7  (bases 1 to 1710)
  AUTHORS   Wilk,J.B., Laramie,J.M., Latourelle,J.C., Williamson,S.,
            Nagle,M.W., Tobin,J.E., Foster,C.L., Eckfeldt,J.H., Province,M.A.,
            Borecki,I.B. and Myers,R.H.
  TITLE     NYD-SP18 is associated with obesity in the NHLBI Family Heart Study
  JOURNAL   Int J Obes (Lond) 32 (6), 930-935 (2008)
   PUBMED   18317470
  REMARK    GeneRIF: The effect of the NYD-SP18 SNP on obesity was larger than
            the effect of FTO in FHS. The NYD-SP18 gene is described as testes
            development related, but little is known about the gene's function
            or the mechanism by which it may influence risk for obesity.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018638.5 and AC024952.4.
            
            On Apr 16, 2021 this sequence version replaced NM_001282788.2.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            acceptor splice site in the 3' coding region compared to variant 1.
            The resulting isoform (2) is 2 aa shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK313608.1, BC037248.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000621392.5/ ENSP00000477573.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-153               AC018638.5         72586-72738         c
            154-300             AC024952.4         1-147
            301-485             AC024952.4         1270-1454
            486-738             AC024952.4         3288-3540
            739-860             AC024952.4         7654-7775
            861-898             AC024952.4         11291-11328
            899-1066            AC024952.4         14359-14526
            1067-1710           AC024952.4         15557-16200
FEATURES             Location/Qualifiers
     source          1..1710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     gene            1..1710
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /note="golgi associated RAB2 interactor 1B"
                     /db_xref="GeneID:84691"
                     /db_xref="HGNC:HGNC:30704"
                     /db_xref="MIM:619905"
     exon            1..300
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1080
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /note="isoform 2 is encoded by transcript variant 2;
                     family with sequence similarity 137, member A; testes
                     development-related NYD-SP18; testis development protein
                     NYD-SP18; protein FAM71F1; testicular tissue protein Li
                     67; Golgi-associated RAB2B interactor like 1; family with
                     sequence similarity 71 member F1; Golgi associated RAB2
                     interactor protein 1B"
                     /codon_start=1
                     /product="Golgi-associated RAB2 interactor protein 1B
                     isoform 2"
                     /protein_id="NP_001269717.1"
                     /db_xref="CCDS:CCDS94192.1"
                     /db_xref="GeneID:84691"
                     /db_xref="HGNC:HGNC:30704"
                     /db_xref="MIM:619905"
                     /translation="MLSSFPHRKTWRKSKKTVKVTRSYPTFPSLNAWEEFRGLLPVDG
                     EPNPGAGLGVEEGLLCRVVHSPEFNLFLDSVVFESNFIQVKRGRNWRDVYKASNTMAL
                     GVTSSVPCLPLPNILLMASVKWHQGQNQTWNRPSIAPNIFLKRILPLRFVELQVCDHY
                     QRILQLRTVTEKIYYLKLHPDHPETVFHFWIRLVQILQKGLSITTKDPRILVTHCLVP
                     KNCSSPSGDSKLVQKKLQASQPSESLIQLMTKGESEALSQIFADLHQQNQLRSSRKVE
                     TNKNSSGKDSSREDSIPCTCDLRWRASFTYGEWERENPSGLQPLSLLSTLAASTGPQL
                     APPIGNSI"
     exon            301..485
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /inference="alignment:Splign:2.1.0"
     exon            486..738
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /inference="alignment:Splign:2.1.0"
     exon            739..860
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /inference="alignment:Splign:2.1.0"
     exon            861..898
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1066
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1710
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1690..1695
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /note="hexamer: ATTAAA"
     polyA_site      1708
                     /gene="GARIN1B"
                     /gene_synonym="FAM137A; FAM71F1; GARI-L1; GARIL1;
                     NYD-SP18"
                     /note="major polyA site"
ORIGIN      
        1 agacagagat cccaggacaa atgtgcagca ggcccctgag catgtgtaga aatgttgtca
       61 tcatttccac atagaaagac ttggaggaaa tcaaagaaga cagtaaaagt cacaagatcc
      121 tatccaacct tcccttccct gaatgcctgg gaagaattca ggggcctctt gcctgtggat
      181 ggagagccga accctggagc gggcctaggt gtggaggagg gactgctctg ccgggtggtt
      241 cattctccag aattcaacct gtttcttgac tccgtggtgt ttgaaagcaa cttcatccag
      301 gtcaaaaggg gcaggaattg gagagacgtc tacaaagctt ccaacaccat ggccctgggg
      361 gtgacctcct cggtaccctg cctgcccctc cccaacatcc tactcatggc cagtgtcaaa
      421 tggcaccagg ggcagaacca gacatggaac agaccatcca tagcccccaa catcttcctg
      481 aagaggattc tcccattgag gtttgtggag ctccaggtat gtgaccacta tcaacgcatc
      541 ctgcagttga ggacagtcac tgagaagatt tattacctaa agctccatcc tgaccatcct
      601 gagactgtct tccacttctg gatccgactg gttcaaattc tgcaaaaggg gctgtccatc
      661 accaccaaag accctaggat tcttgtcacg cactgcctgg tacccaagaa ctgcagcagc
      721 ccctcaggag attcgaagtt agtacagaag aaactccaag cctcccagcc cagcgagagt
      781 ctcattcagc taatgaccaa gggggagagt gaagccctgt ctcagatttt tgccgactta
      841 caccagcaga accagttgag gagcagcaga aaggtggaga ccaacaagaa cagctcaggg
      901 aaagattctt cccgtgaaga cagcatccct tgcacctgtg acctacgttg gagggcttca
      961 ttcacgtacg gagagtggga aagagagaac ccctccggcc tgcagcccct ctcactactc
     1021 agcactctgg cagcctccac cgggccacag ctggccccac ccataggaaa ttctatttga
     1081 gccacccttc cgcactgggg agaatctatg caagcctcgt caacaccact ttgcagcatt
     1141 cagctgctga gggattatcg ggatggagag taggagaaaa ctgcaaccaa ggaagaatag
     1201 agtcatctca cggtgacagc agagcctttc cagctgtaca taaccacgtc ctcgccactg
     1261 cacctcggca tatgccacct ccatgccact gccagagctg gcctagcaag atgtgctctc
     1321 agaatggccg ggcccaagag atgaaggaaa ggagtgaaag ggaagtagga ccagagaagt
     1381 ggaaggaagc aaaatggagg tgatgagaaa ggtggtggga gaaagtcagc agatgagaga
     1441 cacaaagaga agtggtaata ggaaacggaa gagacttggt agacgagata aggaggacaa
     1501 gagaagggac acacccctga gagatgctca ccaagcttct atttatctaa tttaaaactt
     1561 gaaagtaaag ccataaacaa aaaaaagaaa tgttttcttc cctgctcaga ccattctgga
     1621 caaatgtgaa ctgccagaca ccttccattt ccctttctat ctgtttttct tgctagttcc
     1681 tgtcttctga ttaaagcttc attccttctt
//
