LOCUS       NM_001369441            1689 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens NGG1 interacting factor 3 like 1 (NIF3L1), transcript
            variant 5, mRNA.
ACCESSION   NM_001369441 XM_005246742
VERSION     NM_001369441.2
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 1689)
  AUTHORS   Reed,C.J., Hutinet,G. and de Crecy-Lagard,V.
  TITLE     Comparative Genomic Analysis of the DUF34 Protein Family Suggests
            Role as a Metal Ion Chaperone or Insertase
  JOURNAL   Biomolecules 11 (9), 1282 (2021)
   PUBMED   34572495
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1689)
  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 1689)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1689)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1689)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 1689)
  AUTHORS   Merla,G., Howald,C., Antonarakis,S.E. and Reymond,A.
  TITLE     The subcellular localization of the ChoRE-binding protein, encoded
            by the Williams-Beuren syndrome critical region gene 14, is
            regulated by 14-3-3
  JOURNAL   Hum Mol Genet 13 (14), 1505-1514 (2004)
   PUBMED   15163635
REFERENCE   7  (bases 1 to 1689)
  AUTHORS   Tascou,S., Kang,T.W., Trappe,R., Engel,W. and Burfeind,P.
  TITLE     Identification and characterization of NIF3L1 BP1, a novel
            cytoplasmic interaction partner of the NIF3L1 protein
  JOURNAL   Biochem Biophys Res Commun 309 (2), 440-448 (2003)
   PUBMED   12951069
REFERENCE   8  (bases 1 to 1689)
  AUTHORS   Akiyama,H., Fujisawa,N., Tashiro,Y., Takanabe,N., Sugiyama,A. and
            Tashiro,F.
  TITLE     The role of transcriptional corepressor Nif3l1 in early stage of
            neural differentiation via cooperation with Trip15/CSN2
  JOURNAL   J Biol Chem 278 (12), 10752-10762 (2003)
   PUBMED   12522100
REFERENCE   9  (bases 1 to 1689)
  AUTHORS   Hadano,S., Yanagisawa,Y., Skaug,J., Fichter,K., Nasir,J.,
            Martindale,D., Koop,B.F., Scherer,S.W., Nicholson,D.W.,
            Rouleau,G.A., Ikeda,J. and Hayden,M.R.
  TITLE     Cloning and characterization of three novel genes, ALS2CR1,
            ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis
            (ALS2) critical region at chromosome 2q33-q34: candidate genes for
            ALS2
  JOURNAL   Genomics 71 (2), 200-213 (2001)
   PUBMED   11161814
REFERENCE   10 (bases 1 to 1689)
  AUTHORS   Tascou,S., Uedelhoven,J., Dixkens,C., Nayernia,K., Engel,W. and
            Burfeind,P.
  TITLE     Isolation and characterization of a novel human gene, NIF3L1, and
            its mouse ortholog, Nif3l1, highly conserved from bacteria to
            mammals
  JOURNAL   Cytogenet Cell Genet 90 (3-4), 330-336 (2000)
   PUBMED   11124544
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005037.2.
            
            On Jan 3, 2020 this sequence version replaced NM_001369441.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR7346977.682468.1,
                                           SRR5189655.64547.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409020.6/ ENSP00000386394.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-282               AC005037.2         124834-125115       c
            283-744             AC005037.2         122107-122568       c
            745-907             AC005037.2         121078-121240       c
            908-1034            AC005037.2         119096-119222       c
            1035-1173           AC005037.2         117272-117410       c
            1174-1257           AC005037.2         115018-115101       c
            1258-1689           AC005037.2         110561-110992       c
FEATURES             Location/Qualifiers
     source          1..1689
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..1689
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /note="NGG1 interacting factor 3 like 1"
                     /db_xref="GeneID:60491"
                     /db_xref="HGNC:HGNC:13390"
                     /db_xref="MIM:605778"
     exon            1..282
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /inference="alignment:Splign:2.1.0"
     exon            283..744
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /inference="alignment:Splign:2.1.0"
     CDS             309..1442
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /EC_number="3.5.4.16"
                     /note="isoform 1 is encoded by transcript variant 5;
                     amyotrophic lateral sclerosis 2 (juvenile) chromosome
                     region, candidate 1; NIF3 (Ngg1 interacting factor 3,
                     S.pombe homolog)-like 1; NIF3-like protein 1; NIF3 NGG1
                     interacting factor 3-like 1; amyotrophic lateral sclerosis
                     2 chromosomal region candidate gene 1 protein; GTP
                     cyclohydrolase I; putative GTP cyclohydrolase 1 type 2
                     NIF3L1"
                     /codon_start=1
                     /product="NIF3-like protein 1 isoform 1"
                     /protein_id="NP_001356370.1"
                     /db_xref="CCDS:CCDS46485.1"
                     /db_xref="GeneID:60491"
                     /db_xref="HGNC:HGNC:13390"
                     /db_xref="MIM:605778"
                     /translation="MLSSCVRPVPTTVRFVDSLICNSSRSFMDLKALLSSLNDFASLS
                     FAESWDNVGLLVEPSPPHTVNTLFLTNDLTEEVMEEVLQKKADLILSYHPPIFRPMKR
                     ITWNTWKERLVIRALENRVGIYSPHTAYDAAPQGVNNWLAKGLGACTSRPIHPSKAPN
                     YPTEGNHRVEFNVNYTQDLDKVMSAVKGIDGVSVTSFSARTGNEEQTRINLNCTQKAL
                     MQVVDFLSRNKQLYQKTEILSLEKPLLLHTGMGRLCTLDESVSLATMIDRIKRHLKLS
                     HIRLALGVGRTLESQVKVVALCAGSGSSVLQGVEADLYLTGEMSHHDTLDAASQGINV
                     ILCEHSNTERGFLSDLRDMLDSHLENKINIILSETDRDPLQVV"
     exon            745..907
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1034
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1173
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1257
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1689
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1670..1675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /note="hexamer: AATAAA"
     polyA_site      1689
                     /gene="NIF3L1"
                     /gene_synonym="ALS2CR1; CALS-7; MDS015"
                     /note="major polyA site"
ORIGIN      
        1 gcagagaagt ttccgggact ggtgagtagt gggcgattta aaaacccgcg agtgtagttg
       61 tgaccttcgc ggtaggtgcc ggttggggcc ggctgtgatt gttatcttgg tgctgcagag
      121 gacagcagaa gaggagattg ggtcagaaaa ctgccctgcc gcaccagagc acagcgcact
      181 agtgggacag gggtcctgac tcagacttaa ctggctgtgt ctcgtggttt ttcactgtcc
      241 tggaaaaggc ctgaagtggc actgaaatga ggcatagatg agaaacttga actttacctg
      301 atttctgtat gttgtcatct tgcgtacgcc cagtccccac gacagtccgg tttgtagatt
      361 ccctgatctg caattcttcc cgttccttca tggatttgaa ggctctcctt tcttccttga
      421 atgactttgc atccctctcg tttgctgaga gttgggacaa tgttggatta ctggtggaac
      481 caagcccacc acatactgta aatacactct tcctgaccaa tgacctgact gaggaagtga
      541 tggaggaggt gctgcaaaag aaggcagacc tcattctctc ctaccatccg cctatcttcc
      601 gacccatgaa gcgcataacc tggaacacat ggaaggagcg cctggtgatc cgggctctgg
      661 agaacagagt cggtatctac tctcctcata cagcctatga tgctgcgccc cagggcgtca
      721 acaactggtt ggctaaaggg cttggagctt gtacctccag gcccatacat ccttccaaag
      781 ctcccaacta ccctacagag ggaaaccacc gagtagaatt caacgttaac tacacccaag
      841 acctggacaa agtcatgtct gcagtgaaag gaattgacgg tgtttctgtc acttcttttt
      901 ctgctaggac tggtaatgag gaacaaacac ggattaatct gaattgtact cagaaggctt
      961 tgatgcaggt ggtagatttt ctttcccgga acaaacaact ttatcagaag acggaaattc
     1021 tgtcactgga gaagcctttg cttctacata ctggaatggg acggttatgc acactggatg
     1081 aatctgtctc cctggcaacc atgattgatc gaataaaaag acacctaaaa ctatctcata
     1141 ttcgcttagc ccttggggtg gggagaacct tagagtctca agtcaaagtc gtggccctgt
     1201 gtgctggttc tgggagcagc gttctgcagg gtgttgaggc tgacctttac ctcacaggtg
     1261 agatgtccca tcatgatact ttggatgctg cttcccaagg aataaatgtc atcctctgtg
     1321 aacacagcaa cactgaacga ggctttcttt ctgaccttcg agatatgctg gattctcact
     1381 tggagaataa gataaatatt atcctatcag agactgacag ggaccctctt caggtggtat
     1441 aattgcagaa acatcaggat aacacattct acaaatcagc tggatgccaa cttaaatttg
     1501 taacatgagt cagtgggact ggtgtgcttc cagagagtgt cttcgagggt atcatcattt
     1561 ccggtttgtt aatcttattc accaaatgtt ctatcgctcg taaggtaaaa ctgtaatata
     1621 actaccatat taaataacaa atgttcatta taaactctag gaaagattga ataaaatctg
     1681 tttacttaa
//
