LOCUS       NP_114401                879 aa            linear   PRI 24-APR-2025
DEFINITION  transmembrane protein 245 isoform 1 [Homo sapiens].
ACCESSION   NP_114401
VERSION     NP_114401.2
DBSOURCE    REFSEQ: accession NM_032012.4
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  (residues 1 to 879)
  AUTHORS   Perry,J.R., Day,F., Elks,C.E., Sulem,P., Thompson,D.J.,
            Ferreira,T., He,C., Chasman,D.I., Esko,T., Thorleifsson,G.,
            Albrecht,E., Ang,W.Q., Corre,T., Cousminer,D.L., Feenstra,B.,
            Franceschini,N., Ganna,A., Johnson,A.D., Kjellqvist,S.,
            Lunetta,K.L., McMahon,G., Nolte,I.M., Paternoster,L., Porcu,E.,
            Smith,A.V., Stolk,L., Teumer,A., Tsernikova,N., Tikkanen,E.,
            Ulivi,S., Wagner,E.K., Amin,N., Bierut,L.J., Byrne,E.M.,
            Hottenga,J.J., Koller,D.L., Mangino,M., Pers,T.H.,
            Yerges-Armstrong,L.M., Zhao,J.H., Andrulis,I.L., Anton-Culver,H.,
            Atsma,F., Bandinelli,S., Beckmann,M.W., Benitez,J., Blomqvist,C.,
            Bojesen,S.E., Bolla,M.K., Bonanni,B., Brauch,H., Brenner,H.,
            Buring,J.E., Chang-Claude,J., Chanock,S., Chen,J.,
            Chenevix-Trench,G., Collee,J.M., Couch,F.J., Couper,D.,
            Coveillo,A.D., Cox,A., Czene,K., D'adamo,A.P., Smith,G.D., De
            Vivo,I., Demerath,E.W., Dennis,J., Devilee,P., Dieffenbach,A.K.,
            Dunning,A.M., Eiriksdottir,G., Eriksson,J.G., Fasching,P.A.,
            Ferrucci,L., Flesch-Janys,D., Flyger,H., Foroud,T., Franke,L.,
            Garcia,M.E., Garcia-Closas,M., Geller,F., de Geus,E.E., Giles,G.G.,
            Gudbjartsson,D.F., Gudnason,V., Guenel,P., Guo,S., Hall,P.,
            Hamann,U., Haring,R., Hartman,C.A., Heath,A.C., Hofman,A.,
            Hooning,M.J., Hopper,J.L., Hu,F.B., Hunter,D.J., Karasik,D.,
            Kiel,D.P., Knight,J.A., Kosma,V.M., Kutalik,Z., Lai,S.,
            Lambrechts,D., Lindblom,A., Magi,R., Magnusson,P.K., Mannermaa,A.,
            Martin,N.G., Masson,G., McArdle,P.F., McArdle,W.L., Melbye,M.,
            Michailidou,K., Mihailov,E., Milani,L., Milne,R.L., Nevanlinna,H.,
            Neven,P., Nohr,E.A., Oldehinkel,A.J., Oostra,B.A., Palotie,A.,
            Peacock,M., Pedersen,N.L., Peterlongo,P., Peto,J., Pharoah,P.D.,
            Postma,D.S., Pouta,A., Pylkas,K., Radice,P., Ring,S.,
            Rivadeneira,F., Robino,A., Rose,L.M., Rudolph,A., Salomaa,V.,
            Sanna,S., Schlessinger,D., Schmidt,M.K., Southey,M.C., Sovio,U.,
            Stampfer,M.J., Stockl,D., Storniolo,A.M., Timpson,N.J., Tyrer,J.,
            Visser,J.A., Vollenweider,P., Volzke,H., Waeber,G.,
            Waldenberger,M., Wallaschofski,H., Wang,Q., Willemsen,G.,
            Winqvist,R., Wolffenbuttel,B.H., Wright,M.J., Boomsma,D.I.,
            Econs,M.J., Khaw,K.T., Loos,R.J., McCarthy,M.I., Montgomery,G.W.,
            Rice,J.P., Streeten,E.A., Thorsteinsdottir,U., van Duijn,C.M.,
            Alizadeh,B.Z., Bergmann,S., Boerwinkle,E., Boyd,H.A., Crisponi,L.,
            Gasparini,P., Gieger,C., Harris,T.B., Ingelsson,E., Jarvelin,M.R.,
            Kraft,P., Lawlor,D., Metspalu,A., Pennell,C.E., Ridker,P.M.,
            Snieder,H., Sorensen,T.I., Spector,T.D., Strachan,D.P.,
            Uitterlinden,A.G., Wareham,N.J., Widen,E., Zygmunt,M., Murray,A.,
            Easton,D.F., Stefansson,K., Murabito,J.M. and Ong,K.K.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   2  (residues 1 to 879)
  AUTHORS   Xu,C., Aragam,N., Li,X., Villla,E.C., Wang,L., Briones,D.,
            Petty,L., Posada,Y., Arana,T.B., Cruz,G., Mao,C., Camarillo,C.,
            Su,B.B., Escamilla,M.A. and Wang,K.
  TITLE     BCL9 and C9orf5 are associated with negative symptoms in
            schizophrenia: meta-analysis of two genome-wide association studies
  JOURNAL   PLoS One 8 (1), e51674 (2013)
   PUBMED   23382809
  REMARK    GeneRIF: we detected five SNPs in the first two genes/loci - BCL9
            and C9orf5 - strongly associated with negative symptoms of
            schizophrenia
REFERENCE   3  (residues 1 to 879)
  AUTHORS   Luciano,M., Hansell,N.K., Lahti,J., Davies,G., Medland,S.E.,
            Raikkonen,K., Tenesa,A., Widen,E., McGhee,K.A., Palotie,A.,
            Liewald,D., Porteous,D.J., Starr,J.M., Montgomery,G.W.,
            Martin,N.G., Eriksson,J.G., Wright,M.J. and Deary,I.J.
  TITLE     Whole genome association scan for genetic polymorphisms influencing
            information processing speed
  JOURNAL   Biol Psychol 86 (3), 193-202 (2011)
   PUBMED   21130836
REFERENCE   4  (residues 1 to 879)
  AUTHORS   Chadwick,B.P., Gill,S., Leyne,M., Mull,J., Liebert,C.B.,
            Robbins,C.M., Pinkett,H.W., Makalowska,I., Maayan,C.,
            Blumenfeld,A., Axelrod,F.B., Brownstein,M. and Slaugenhaupt,S.A.
  TITLE     Cloning, genomic organization and expression of a putative human
            transmembrane protein related to the Caenorhabditis elegans M01F1.4
            gene
  JOURNAL   Gene 240 (1), 67-73 (1999)
   PUBMED   10564813
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL358815.12, DC341553.1, BE675782.1, BP351493.1, BP360669.1,
            AL556162.3, BC014248.2, AL354797.16 and BM817899.1.
            
            On Jul 26, 2006 this sequence version replaced NP_114401.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF153415.1, SRR1803615.205975.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374586.8/ ENSP00000363714.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..879
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.3"
     Protein         1..879
                     /product="transmembrane protein 245 isoform 1"
                     /note="transmembrane protein C9orf5; protein CG-2"
                     /calculated_mol_wt=97227
     Region          1..36
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:B1AZA5; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            12
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1AZA5; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1AZA5; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            36
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            60..80
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            119..139
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            148..168
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            185..205
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            210
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            219..239
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            241..261
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Region          293..339
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            324
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            327
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            330
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D3ZXD8; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            334
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            354..374
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            377..397
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            460..480
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            500
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            551
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            575
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            626..646
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Region          <648..840
                     /region_name="PerM"
                     /note="Predicted PurR-regulated permease PerM [General
                     function prediction only]; COG0628"
                     /db_xref="CDD:440393"
     Site            650..670
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            732..752
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            776..796
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            815..835
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H330.3)"
     Site            877
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H330.3)"
     CDS             1..879
                     /gene="TMEM245"
                     /gene_synonym="C9orf5; CG-2; CG2"
                     /coded_by="NM_032012.4:35..2674"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS43858.1"
                     /db_xref="GeneID:23731"
                     /db_xref="HGNC:HGNC:1363"
                     /db_xref="MIM:620252"
ORIGIN      
        1 madgggpkda pslrsspgpa prvpravgps ggggetprta alalrfdkpi kqafyntgav
       61 lfvclccgaa vlvyfileaf lrpllwavlc gtflhpfkss ltrlgrhwlq rlhrahtpiv
      121 laalllplcf vdygvealge qalrrrrlll llgaggplly glyclgsylg vqvllvhaat
      181 licrgldyfs slwiwtlvvg yvltvsfkwn asterylrav sipvwiillf hlaslagswr
      241 ipvflvivfl msvgtlyekq ngkessgael pgqvismaas tlanlaisit gyesssedqp
      301 stqpaeavdr gesaptlsts pspsspspts psptlgrrrp eigtflrkkk tsdiyfvslv
      361 waivvmqiwl nlwivqllpv piavwilkkl vihfgvvdfl ekryhvwwgi iesflkerqg
      421 alapwpivgl gkfllkvdsk lwhwlnkkmi iwlekmldki isifiifllv igtlllalll
      481 takvhqesvh mievtsnlin etlanhpewa nwlpeaqvvq ralnsaannv yqygrewith
      541 klhkilgdkv nntaviekqv lelwdrlyhs wfvknvthsg rhkgqklhvs rqnswlgdil
      601 dwqdivsfvh enietflsil eslwivmsrn vsllfttvtt lltilfysgt allnfvlsli
      661 iflttlfyll sssdeyykpv kwvisltpls qpgpssniig qsveeairgv fdaslkmagf
      721 yglytwltht mfginivfip salaailgav pflgtywaav pavldlwltq glgckailll
      781 ifhllptyfv dtaiysdisg gghpyltgla vaggayylgl egaiigpill cilvvasniy
      841 samlvsptns vptpnqtpwp aqpqrtfrdi sedlkssvg
//
