LOCUS       NM_001130970            3580 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens NMDA receptor synaptonuclear signaling and neuronal
            migration factor (NSMF), transcript variant 3, mRNA.
ACCESSION   NM_001130970
VERSION     NM_001130970.2
KEYWORDS    RefSeq.
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 3580)
  AUTHORS   Aoki,K., Nitta,A. and Igarashi,A.
  TITLE     NELF and PAF1C complexes are core transcriptional machineries
            controlling colon cancer stemness
  JOURNAL   Oncogene 43 (8), 566-577 (2024)
   PUBMED   38182897
  REMARK    GeneRIF: NELF and PAF1C complexes are core transcriptional
            machineries controlling colon cancer stemness.
REFERENCE   2  (bases 1 to 3580)
  AUTHORS   Ju,M.K., Shin,K.J., Lee,J.R., Khim,K.W., A Lee,E., Ra,J.S.,
            Kim,B.G., Jo,H.S., Yoon,J.H., Kim,T.M., Myung,K., Choi,J.H., Kim,H.
            and Chae,Y.C.
  TITLE     NSMF promotes the replication stress-induced DNA damage response
            for genome maintenance
  JOURNAL   Nucleic Acids Res 49 (10), 5605-5622 (2021)
   PUBMED   33963872
  REMARK    GeneRIF: NSMF promotes the replication stress-induced DNA damage
            response for genome maintenance.
REFERENCE   3  (bases 1 to 3580)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 3580)
  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   5  (bases 1 to 3580)
  AUTHORS   Ko,E.K., Chorich,L.P., Sullivan,M.E., Cameron,R.S. and Layman,L.C.
  TITLE     JAK/STAT signaling pathway gene expression is reduced following
            Nelf knockdown in GnRH neurons
  JOURNAL   Mol Cell Endocrinol 470, 151-159 (2018)
   PUBMED   29050862
  REMARK    GeneRIF: These findings suggest a role for NELF in the regulation
            of the JAK/STAT signaling pathway, which have important functions
            in GnRH neurons.
REFERENCE   6  (bases 1 to 3580)
  AUTHORS   Nousiainen,M., Sillje,H.H., Sauer,G., Nigg,E.A. and Korner,R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
REFERENCE   7  (bases 1 to 3580)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   8  (bases 1 to 3580)
  AUTHORS   Miura,K., Acierno,J.S. Jr. and Seminara,S.B.
  TITLE     Characterization of the human nasal embryonic LHRH factor gene,
            NELF, and a mutation screening among 65 patients with idiopathic
            hypogonadotropic hypogonadism (IHH)
  JOURNAL   J Hum Genet 49 (5), 265-268 (2004)
   PUBMED   15362570
REFERENCE   9  (bases 1 to 3580)
  AUTHORS   Kramer,P.R. and Wray,S.
  TITLE     Novel gene expressed in nasal region influences outgrowth of
            olfactory axons and migration of luteinizing hormone-releasing
            hormone (LHRH) neurons
  JOURNAL   Genes Dev 14 (14), 1824-1834 (2000)
   PUBMED   10898796
REFERENCE   10 (bases 1 to 3580)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301509
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY255130.1, CN306732.1,
            BM023184.1 and AW072125.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001130970.1.
            
            Summary: The protein encoded by this gene is involved in guidance
            of olfactory axon projections and migration of luteinizing
            hormone-releasing hormone neurons. Defects in this gene are a cause
            of idiopathic hypogonadotropic hypogonadism (IHH). Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (c) has the same
            N- and C-termini but is shorter compared to 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 :: AY255130.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2918              AY255130.1         1-2918
            2919-3155           CN306732.1         108-344
            3156-3536           BM023184.1         222-602
            3537-3580           AW072125.1         4-47                c
FEATURES             Location/Qualifiers
     source          1..3580
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..3580
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /note="NMDA receptor synaptonuclear signaling and neuronal
                     migration factor"
                     /db_xref="GeneID:26012"
                     /db_xref="HGNC:HGNC:29843"
                     /db_xref="MIM:608137"
     exon            1..303
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     CDS             233..1756
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /note="isoform c is encoded by transcript variant 3; nasal
                     embryonic luteinizing hormone-releasing hormone factor;
                     nasal embryonic LHRH factor"
                     /codon_start=1
                     /product="NMDA receptor synaptonuclear signaling and
                     neuronal migration factor isoform c"
                     /protein_id="NP_001124442.1"
                     /db_xref="CCDS:CCDS48068.1"
                     /db_xref="GeneID:26012"
                     /db_xref="HGNC:HGNC:29843"
                     /db_xref="MIM:608137"
                     /translation="MGAAASRRRALRSEAMSSVAAKVRAARAFGEYLSQSHPENRNGA
                     DHLLADAYSGHDGSPEMQPAPQNKRRLSLVSNGCYEGSLSEEPSIRKPAGEGPQPRVY
                     TISGEPALLPSPEAEAIELAVVKGRRQRHPHHHSQPLRASPGGSREDVSRPCQSWAGS
                     RQGSKECPGCAQLAPGPTPRAFGLDQPPLPETSGRRKKLERMYSVDRVSDDIPIRTWF
                     PKENLFSFQTATTTMQAISNFRKHLRMVGSRRVKAQTFAERRERSFSRSWSDPTPMKA
                     DTSHDSRDSSDLQSSHCTLDEAFEDLDWDTEKGLEAVACDTEGFVPPKVMLISSKVPK
                     AEYIPTIIRRDDPSIIPILYDHEHATFEDILEEIERKLNVYHKGAKIWKMLIFCQGGP
                     GHLYLLKNKVATFAKVEKEEDMIHFWKRLSRLMSKVNPEPNVIHIMGCYILGNPNGEK
                     LFQNLRTLMTPYRVTFESPLELSAQGKQMIETYFDFRLYRLWKSRQHSKLLDFDDVL"
     exon            304..365
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            366..860
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            861..936
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            937..942
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            943..995
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1085
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1210
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1294
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1328
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1399
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1479
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1582
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1658
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     exon            1659..3580
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2903..2908
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /note="hexamer: ATTAAA"
     polyA_site      2925
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /note="major polyA site"
     regulatory      3556..3561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /note="hexamer: TATAAA"
     polyA_site      3580
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
ORIGIN      
        1 ggttcgggca gcgctctccc gggagcggcg gcacgcgcgg agcgccgggt gcggccatgc
       61 ggggaccggg cccgaccccg agcccgaccc cgagcccaag cccgagccgg agcccgagcg
      121 agaccccgag cccgagcccg agcgcgaccc ccggtgcggc gcggctaccc cggcggaggc
      181 ggcgggcgcg gggcgcgctc tgaggcccgg gggatgcgcc gccgcctcga ccatgggcgc
      241 cgccgcctcc aggaggaggg cgctgaggag cgaggccatg tcctcggtgg cggccaaagt
      301 gcgagcagcc cgagcgtttg gagagtacct gtcccagagt caccctgaga accgcaacgg
      361 cgcagatcac ctgctggctg atgcctactc tggccacgac gggtcccccg agatgcagcc
      421 ggccccccag aacaagcgcc gcctgtccct cgtctccaac ggctgctacg agggcagcct
      481 ctcagaggag cccagcatta ggaagcccgc aggcgagggc cctcagcctc gagtgtacac
      541 catctctggg gagcctgccc tgctgcccag ccctgaggcg gaggccattg agctggcggt
      601 ggtgaagggg cggcggcagc ggcaccctca ccatcacagc cagcccctgc gcgccagccc
      661 tggtggcagc cgggaggacg tcagcaggcc ctgccagagc tgggcgggca gccgccaggg
      721 ctccaaggag tgccccggat gtgcccagct ggctcctggc cccacccctc gggcctttgg
      781 gctggaccag ccacctctgc ctgagacctc cggtcgccgc aagaagctgg agaggatgta
      841 cagcgttgac cgtgtgtctg acgacatccc tattcgtacc tggttcccca aggaaaatct
      901 tttcagcttc cagacagcaa ccacaactat gcaagccatc tcgaacttcc gcaaacacct
      961 gcgcatggtc ggcagccgga gggtgaaggc ccagacgttc gctgagcggc gcgagcggag
     1021 cttcagccgg tcctggagcg accccacccc catgaaagcc gacacttccc acgactcccg
     1081 agacagcagt gacctgcaga gctcccactg cacgctggac gaggccttcg aggacctgga
     1141 ctgggacact gagaagggcc tggaggctgt ggcctgcgac accgaaggct tcgtgccacc
     1201 aaaggtcatg ctcatttcct ccaaggtgcc caaggctgag tacatcccca ctatcatccg
     1261 ccgggatgac ccctccatca tccccatcct ctacgaccat gagcacgcaa ccttcgagga
     1321 catccttgag gagatagaga ggaagctgaa cgtctaccac aagggagcca agatctggaa
     1381 aatgctgatt ttctgccagg gaggtcctgg acacctctat ctcctcaaga acaaggtggc
     1441 cacctttgcc aaagtggaga aggaagagga catgattcac ttctggaagc ggctgagccg
     1501 cctgatgagc aaagtgaacc cagagccgaa cgtcatccac atcatgggct gctacattct
     1561 ggggaacccc aatggagaga agctgttcca gaacctcagg accctcatga ctccttatag
     1621 ggtcaccttc gagtcacccc tggagctctc agcccaaggg aagcagatga tcgagacgta
     1681 ctttgacttc cggttgtatc gcctgtggaa gagccgccag cactcgaagc tgctggactt
     1741 tgacgacgtc ctgtgagggg cagaggcctc cgcccagtca ccatcaggcc actccctctg
     1801 caccgggacc tggggctggg ccgcctcgtg ctccccggga ctgtgtggct ccggtctcgc
     1861 ctggagccac ttcagggcac ctcagacgtt gctcaggttc cccctgtggg ttccggtcct
     1921 cgctgcaccc gtggccgcag aggctgcagt ccctgggggc cgggaggatc ccgccctgtg
     1981 gcccgtggat gctcagcggc caggcactga cctgccatgc ctcgcctgga ggctcagctg
     2041 tgggcatccc tccatggggt tcatagaaat aagtgcaatt tctacacccc cgaaacaatt
     2101 caaagggaag cagcatttct tgttaactag ttaagcacta tgctgctagt tacagtgtag
     2161 gcaccccggc ccagcagccc agcagcccac atgtgttcag gaccctccct gcccaccccc
     2221 tccctgccgt atcgatcacc agcaccaggg tggcccgtgt gcgtggggcc agcgtcgccg
     2281 ggctgcccag cctggctctg tctacactgg ccgagtctct gggtctgtct acactggccg
     2341 agtctccgac tgtctgtgct ttcacttaca ctcctcttgc caccccccat ccctgcttac
     2401 ttagacctca gccggcgccg gacccggtag gggcagtctg ggcagcagga aggaagggcg
     2461 cagcgtcccc tccttcagag gaggctctgg gtggggcctg ctccccatcc ccccaagccc
     2521 acccagcact ctcattgctg ctgttgagtt cagcttttac cagcctcagt gtggaggctc
     2581 catcccagca cacaggcctg gggcttggca ggggcccagc tggggctggg ccctgggttt
     2641 tgagaaactc gctggcacca cagtgggccc ctggacccgg ccgcgcagct ggtggactgt
     2701 aggggctcct gactgggcac aggagctccc agcttttgtc cacggccagc aggatgggct
     2761 gtcgtgtata tagctggggc gagggggcag gccccccttg tgcagagcca ggggtctgag
     2821 ggcacctggc tgtgttccca gctgagggag ggctggggcg ggggccgggc ttggaacgat
     2881 gtacgatacc ctcatagtga ccattaaacc tgatcctcca ccgcggccgc cgcgtgggtc
     2941 tgtcctctca gtgctttcca ggggccttcc tgtgcccagc ttctgggccc actcctgtga
     3001 ggtcactgct gcagggcctt cctgcctgga cagagttgga gctaggccac tagaccaccc
     3061 cacagggcat agccaggggg accagcacag gaggggacgg agaggagctg caggagggct
     3121 ggggggaggc tgcagtctcg gaggggggcc tcgccgggtc tggaggggac agcagagaca
     3181 gcccgttccc cctgccgcct gagggcacca gggagagggc tgtatgtccc tcacgccaca
     3241 ctgtgtgtgc agtcagcagt gtggccacag atgggggcca ctctctcaac ctcaggtgtc
     3301 ctcagggccc agaccgctgc tgggcacagc caggctggct gccagctggt tccctgcccc
     3361 gtggctgggg gacagagcag cacgtatcag ctgggctagg gtcagggggc cactggtgcg
     3421 cagcctggca cagcctggca ggcttgaggc ccagtgtgct gggggtggtc acacagccgt
     3481 cagccacctc cagctcttcc agggcattct agatggggtc ccgggagggg gcaggttttg
     3541 gtgccaattt gagtgtataa agttttaggt aaataccaaa
//
