LOCUS       NP_001124441             530 aa            linear   PRI 30-APR-2025
DEFINITION  NMDA receptor synaptonuclear signaling and neuronal migration
            factor isoform a [Homo sapiens].
ACCESSION   NP_001124441
VERSION     NP_001124441.1
DBSOURCE    REFSEQ: accession NM_001130969.3
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  (residues 1 to 530)
  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  (residues 1 to 530)
  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  (residues 1 to 530)
  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  (residues 1 to 530)
  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  (residues 1 to 530)
  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  (residues 1 to 530)
  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  (residues 1 to 530)
  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  (residues 1 to 530)
  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  (residues 1 to 530)
  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 (residues 1 to 530)
  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 AL365502.57.
            This sequence is a reference standard in the RefSeqGene project.
            
            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 (1) represents the longest
            transcript and encodes the longest 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 :: AY255128.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371475.9/ ENSP00000360530.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..530
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     Protein         1..530
                     /product="NMDA receptor synaptonuclear signaling and
                     neuronal migration factor isoform a"
                     /note="nasal embryonic luteinizing hormone-releasing
                     hormone factor; nasal embryonic LHRH factor"
                     /calculated_mol_wt=60012
     Region          2..233
                     /region_name="Necessary and sufficient to elicit dendritic
                     processes and synaptic contacts. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6X4W1.1)"
     Region          34..67
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6X4W1.1)"
     Region          125..197
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6X4W1.1)"
     Site            204
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99NF2; propagated from
                     UniProtKB/Swiss-Prot (Q6X4W1.1)"
     Region          247..250
                     /region_name="Nuclear localization signal"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6X4W1.1)"
     Region          285..312
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6X4W1.1)"
     Site            290
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9EPI6; propagated from
                     UniProtKB/Swiss-Prot (Q6X4W1.1)"
     Site            292
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9EPI6; propagated from
                     UniProtKB/Swiss-Prot (Q6X4W1.1)"
     CDS             1..530
                     /gene="NSMF"
                     /gene_synonym="HH9; NELF"
                     /coded_by="NM_001130969.3:233..1825"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS48069.1"
                     /db_xref="GeneID:26012"
                     /db_xref="HGNC:HGNC:29843"
                     /db_xref="MIM:608137"
ORIGIN      
        1 mgaaasrrra lrseamssva akvraarafg eylsqshpen rngadhllad aysghdgspe
       61 mqpapqnkrr lslvsngcye gslseepsir kpagegpqpr vytisgepal lpspeaeaie
      121 lavvkgrrqr hphhhsqplr aspggsredv srpcqswags rqgskecpgc aqlapgptpr
      181 afgldqpplp etsgrrkkle rmysvdrvsd dipirtwfpk enlfsfqtat ttmqaisvfr
      241 gyaerkrrkr endsasviqr nfrkhlrmvg srrvkaqtfa errersfsrs wsdptpmkad
      301 tshdsrdssd lqsshctlde afedldwdte kgleavacdt egfvppkvml isskvpkaey
      361 iptiirrddp siipilydhe hatfedilee ierklnvyhk gakiwkmlif cqggpghlyl
      421 lknkvatfak vekeedmihf wkrlsrlmsk vnpepnvihi mgcyilgnpn geklfqnlrt
      481 lmtpyrvtfe splelsaqgk qmietyfdfr lyrlwksrqh sklldfddvl
//
