LOCUS       NM_173607               3053 bp    mRNA    linear   PRI 07-JAN-2025
DEFINITION  Homo sapiens family with sequence similarity 177 member A1
            (FAM177A1), transcript variant 1, mRNA.
ACCESSION   NM_173607
VERSION     NM_173607.5
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 3053)
  AUTHORS   Ugur,B., Schueder,F., Shin,J., Hanna,M.G., Wu,Y., Leonzino,M.,
            Su,M., McAdow,A.R., Wilson,C., Postlethwait,J., Solnica-Krezel,L.,
            Bewersdorf,J. and De Camilli,P.
  TITLE     VPS13B is localized at the interface between Golgi cisternae and is
            a functional partner of FAM177A1
  JOURNAL   J Cell Biol 223 (12) (2024)
   PUBMED   39331042
REFERENCE   2  (bases 1 to 3053)
  AUTHORS   Kohler,J.N., Legro,N.R., Baldridge,D., Shin,J., Bowman,A., Ugur,B.,
            Jackstadt,M.M., Shriver,L.P., Patti,G.J., Zhang,B., Feng,W.,
            McAdow,A.R., Goddard,P., Ungar,R.A., Jensen,T., Smith,K.S.,
            Fresard,L., Alvarez,R., Bonner,D., Reuter,C.M., McCormack,C.,
            Kravets,E., Marwaha,S., Holt,J.M., Worthey,E.A., Ashley,E.A.,
            Montgomery,S.B., Fisher,P.G., Postlethwait,J., De Camilli,P.,
            Solnica-Krezel,L., Bernstein,J.A. and Wheeler,M.T.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Loss of function of FAM177A1, a Golgi complex localized protein,
            causes a novel neurodevelopmental disorder
  JOURNAL   Genet Med 26 (9), 101166 (2024)
   PUBMED   38767059
  REMARK    GeneRIF: Loss of function of FAM177A1, a Golgi complex localized
            protein, causes a novel neurodevelopmental disorder.
REFERENCE   3  (bases 1 to 3053)
  AUTHORS   Liao,B.W., Zhang,H.Y., Du,W.T., Ran,Y., Wang,Y.Y. and Xu,Z.S.
  TITLE     FAM177A1 Inhibits IL-1beta-Induced Signaling by Impairing
            TRAF6-Ubc13 Association
  JOURNAL   J Immunol 207 (12), 3090-3097 (2021)
   PUBMED   34799425
  REMARK    GeneRIF: FAM177A1 Inhibits IL-1beta-Induced Signaling by Impairing
            TRAF6-Ubc13 Association.
REFERENCE   4  (bases 1 to 3053)
  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   5  (bases 1 to 3053)
  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   6  (bases 1 to 3053)
  AUTHORS   Misra,M.K., Singh,B., Mishra,A. and Agrawal,S.
  TITLE     Co-stimulatory CD28 and transcription factor NFKB1 gene variants
            affect idiopathic recurrent miscarriages
  JOURNAL   J Hum Genet 61 (12), 1035-1041 (2016)
   PUBMED   27488439
REFERENCE   7  (bases 1 to 3053)
  AUTHORS   Sjakste,T., Trapina,I., Rumba-Rozenfelde,I., Lunin,R., Sugoka,O.
            and Sjakste,N.
  TITLE     Identification of a novel candidate locus for juvenile idiopathic
            arthritis at 14q13.2 in the Latvian population by association
            analysis with microsatellite markers
  JOURNAL   DNA Cell Biol 29 (9), 543-551 (2010)
   PUBMED   20136554
REFERENCE   8  (bases 1 to 3053)
  AUTHORS   Ko,H.Y., Lee,D.S. and Kim,S.
  TITLE     Noninvasive imaging of microRNA124a-mediated repression of the
            chromosome 14 ORF 24 gene during neurogenesis
  JOURNAL   FEBS J 276 (17), 4854-4865 (2009)
   PUBMED   19663910
  REMARK    GeneRIF: Remarkable repression of c14orf24 by miR124a was detected
            during neurogenesis.
REFERENCE   9  (bases 1 to 3053)
  AUTHORS   Tomarev,S.I., Wistow,G., Raymond,V., Dubois,S. and Malyukova,I.
  TITLE     Gene expression profile of the human trabecular meshwork: NEIBank
            sequence tag analysis
  JOURNAL   Invest Ophthalmol Vis Sci 44 (6), 2588-2596 (2003)
   PUBMED   12766061
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049776.3 and BX640884.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 20, 2020 this sequence version replaced NM_173607.4.
            
            Summary: This gene encodes a member of a conserved protein family.
            Alternative splicing results in multiple transcript variants. This
            gene is thought to be associated with susceptibility to juvenile
            idiopathic arthritis. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) encodes the longer protein
            (isoform 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 :: BX640984.1, AL833508.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280987.9/ ENSP00000280987.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-132               AL049776.3         123076-123207
            133-2343            BX640884.1         4-2214
            2344-2344           AL049776.3         159473-159473
            2345-3053           BX640884.1         2216-2924
FEATURES             Location/Qualifiers
     source          1..3053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.2"
     gene            1..3053
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /note="family with sequence similarity 177 member A1"
                     /db_xref="GeneID:283635"
                     /db_xref="HGNC:HGNC:19829"
                     /db_xref="MIM:619181"
     exon            1..357
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /inference="alignment:Splign:2.1.0"
     CDS             193..903
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; protein FAM177A1"
                     /codon_start=1
                     /product="protein FAM177A1 isoform 1 precursor"
                     /protein_id="NP_775878.2"
                     /db_xref="CCDS:CCDS9653.2"
                     /db_xref="GeneID:283635"
                     /db_xref="HGNC:HGNC:19829"
                     /db_xref="MIM:619181"
                     /translation="MEVGLPAITLFLTSASSPVVATTMDQEPVGGVERGEAVAASGAA
                     AAAAFGESAGQMSNERGFENVELGVIGKKKKVPRRVIHFVSGETMEEYSTDEDEVDGL
                     EKKDVLPTVDPTKLTWGPYLWFYMLRAATSTLSVCDFLGEKIASVLGISTPKYQYAID
                     EYYRMKKEEEEEEEENRMSEEAEKQYQQNKLQTDSIVQTDQPETVISSSFVNVNFEME
                     GDSEVIMESKQNPVSVPP"
     exon            358..531
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /inference="alignment:Splign:2.1.0"
     exon            532..598
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /inference="alignment:Splign:2.1.0"
     exon            599..696
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /inference="alignment:Splign:2.1.0"
     exon            697..3053
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1012..1017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /note="hexamer: ATTAAA"
     polyA_site      1035
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
     regulatory      1380..1385
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /note="hexamer: AATAAA"
     polyA_site      1400
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /note="major polyA site"
     regulatory      3032..3037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
                     /note="hexamer: TATAAA"
     polyA_site      3053
                     /gene="FAM177A1"
                     /gene_synonym="C14orf24"
ORIGIN      
        1 agactgcagt tggccagctc tcggggtgcg gagcccggcg ggctaggcga ggcgcgggct
       61 ggccccgccc ctcaggccgg cgagtcccct tctcagagac ttggctaggc gcggcgcgag
      121 gcgggcgctg ggcgggtgag tcccacttcc cgacagcctg gctcggccag cgactgggcg
      181 gggagaccaa ggatggaagt gggcttaccg gccattaccc tctttctcac cagcgccagc
      241 agccctgtgg tggcgacgac gatggaccag gagccagtgg gcggtgtgga acgaggagaa
      301 gccgtcgcag cctcgggagc tgcggccgcc gcggcattcg gggaatctgc agggcagatg
      361 agtaacgaaa gaggctttga aaatgtagaa ctgggagtca taggaaaaaa gaagaaagtc
      421 ccaaggagag tcatccactt tgttagtggt gaaacaatgg aagaatatag cacagatgaa
      481 gacgaagttg atggcctgga gaagaaagat gttttgccta ctgttgatcc gacaaaactt
      541 acctggggtc cctacttatg gttttacatg cttcgggctg ctacatcaac tctctcagtg
      601 tgtgacttcc ttggagagaa gattgcatct gttttgggta tcagcacccc aaagtaccaa
      661 tatgccattg atgaatatta tcggatgaag aaggaggaag aagaagaaga agaagaaaac
      721 aggatgtctg aagaagcaga aaaacaatat caacagaata aattgcagac tgattccatt
      781 gttcagacag atcaaccaga gacagtgata tccagctcat ttgtgaatgt caattttgaa
      841 atggagggag acagtgaagt aattatggaa agcaagcaaa atccagtctc tgtcccacca
      901 taaaatgaaa tgactatcaa gcttcaaact cttaagtttt ttttttttaa tacaaaaact
      961 ttcacattct ttattcagtg ggacttaata caattattta tattttaaat tattaaagta
     1021 tctggaaagg gaaaatgttt tcttcatttt taggatctat ctagcaaaag ccagatctga
     1081 aattcagata tttgtactgt ttttactgtg tatagaaatt agtgctttgg ttttaaaatg
     1141 atcttttaaa aaagttaagg acatcctaga gccttaatag ttaagaagag ttaaattatc
     1201 aagcctattt gtgcatttgc tttttttgaa aaaggtaagt tgctgattaa gtctaattgg
     1261 aattgataat tccatagtct tagattaaaa tgaggatatt ttctcctaga ttttctcatg
     1321 ttatgccatg catttatata tctaaccatt aatttcacac taaggatgct tcaccatata
     1381 ataaaaggag caagatggaa gcactttgaa ttttctttca ttgagaataa ctgttttatg
     1441 taagaatctg tatttataac accagatatt aagataggct tccatttttt aatgcaagcc
     1501 acttacttaa tcttgtattc tttttcagga ctcaaataac tagctttgaa cataatatta
     1561 aaacactact tatagaatag atttattaat gttaatacct agtgaatatc catgtggcat
     1621 cctggttatg ttatcggttc agcgttaatc ctatagaaaa gtggtttgga ggggattggg
     1681 ggatagtggg acaggtatag atttaatcca tcaggagcaa ttagatattg tataaggtgc
     1741 aatgatagcc taatgaaatt acccgtcatt catcatttag aagtagcaac agtgaagact
     1801 ggacagttta cttgaatctg gttggccact cctctaccta cttggttatt tgtaaacctt
     1861 acaaatgtat atattgtgaa gctaattttg aaaatattcc taaatatggc caggtacggt
     1921 gctcacacct gtaatcccag cactttggga ggctgaagtg ggcagattac ttgaggtcag
     1981 gagtttgaga ccagcctggc caacgtagtg aaaccccgtc tctacaaaaa tacaaaaatt
     2041 agccaggcgt ggtggtgcac gtctgtaatc ccagctgctc gggaggctga ggcaggagaa
     2101 tcacttgaac cagggaggtg gaggttgcag tgagccaaga ttgcaccact gcactccagc
     2161 ctgggcgaca gagtgagact ccatcttggg gggaaaaaag tatatatata tacacacaca
     2221 cagacacaca cacacacaca tatatctcta aatgtgtgta tagaaccttt tatcagtata
     2281 acattgattt ataattaaat gtgggtgagg aagaatgtgt ggagtgtttc agaaattttg
     2341 atcttaaaag ccttttcaga aactcaaagc tttcagaaat taatagttat attaatagcc
     2401 ttctaaacag cattaagttt tcaattttaa tatatctata taaaatatag tgtcaaagaa
     2461 agtaacatca atatagtggg tctgtaatgg aaatctgtca atgaacatga actgagttct
     2521 tcaactacag gttgaaggat aattaaactt ttcattagga gtgttcagct acatggattc
     2581 atggaatggt ggttcatagt aagtgatggt aatcttttta ttcatgggtg taaacccttt
     2641 ataacttagt gcttaaaata ttaatctttt gattatataa tgtcccatga attatagttt
     2701 accaatagtt ctaaaacatg ctaacctgac cttttccttc taatttgttt ttaacttcat
     2761 tcgagatagt acctctcact cacagatatt tatttggtta tcaagtgaag ataggtgtgt
     2821 ctaaaagtga tcttctgaat cctgtctccc tagaggtact agtatctaga gtttacccag
     2881 aaaattttat gattgtaaca aaaggaagta gtgacttatg aaggttttgt ttcttgaatt
     2941 ttacttttgc tacttgtcca atagtggcta gtttatgttt atcaatatag ttattcactg
     3001 tgccttaagt ttatactttg tttatgcaaa ctataaaatt tcccataaat gta
//
