LOCUS       NM_020374               3817 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens FERRY endosomal RAB5 effector complex subunit 3
            (FERRY3), transcript variant 1, mRNA.
ACCESSION   NM_020374
VERSION     NM_020374.4
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  (bases 1 to 3817)
  AUTHORS   Quentin,D., Schuhmacher,J.S., Klink,B.U., Lauer,J., Shaikh,T.R.,
            Huis In 't Veld,P.J., Welp,L.M., Urlaub,H., Zerial,M. and
            Raunser,S.
  TITLE     Structural basis of mRNA binding by the human FERRY Rab5 effector
            complex
  JOURNAL   Mol Cell 83 (11), 1856-1871 (2023)
   PUBMED   37267906
REFERENCE   2  (bases 1 to 3817)
  AUTHORS   Schuhmacher,J.S., Tom Dieck,S., Christoforidis,S., Landerer,C.,
            Davila Gallesio,J., Hersemann,L., Seifert,S., Schafer,R., Giner,A.,
            Toth-Petroczy,A., Kalaidzidis,Y., Bohnsack,K.E., Bohnsack,M.T.,
            Schuman,E.M. and Zerial,M.
  TITLE     The Rab5 effector FERRY links early endosomes with mRNA
            localization
  JOURNAL   Mol Cell 83 (11), 1839-1855 (2023)
   PUBMED   37267905
REFERENCE   3  (bases 1 to 3817)
  AUTHORS   Rashvand,Z., Kahrizi,K., Najmabadi,H., Najafipour,R. and
            Omrani,M.D.
  TITLE     A novel variant of C12orf4 linked to autosomal recessive
            intellectual disability type 66 with phenotype expansion
  JOURNAL   J Gene Med 24 (4), e3406 (2022)
   PUBMED   34967075
  REMARK    GeneRIF: A novel variant of C12orf4 linked to autosomal recessive
            intellectual disability type 66 with phenotype expansion.
REFERENCE   4  (bases 1 to 3817)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3817)
  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   6  (bases 1 to 3817)
  AUTHORS   Dudkiewicz,M. and Pawlowski,K.
  TITLE     A novel conserved family of Macro-like domains-putative new players
            in ADP-ribosylation signaling
  JOURNAL   PeerJ 7, e6863 (2019)
   PUBMED   31106069
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3817)
  AUTHORS   Philips,A.K., Pinelli,M., de Bie,C.I., Mustonen,A., Maatta,T.,
            Arts,H.H., Wu,K., Roepman,R., Moilanen,J.S., Raza,S., Varilo,T.,
            Scala,G., Cocozza,S., Gilissen,C., van Gassen,K.L. and Jarvela,I.
  TITLE     Identification of C12orf4 as a gene for autosomal recessive
            intellectual disability
  JOURNAL   Clin Genet 91 (1), 100-105 (2017)
   PUBMED   27311568
  REMARK    GeneRIF: Results indicate a founder missense variant (p.Leu328Pro)
            in seven affected individuals from two Finnish consanguineous
            families and a deletion (p.Gln267fs) in one affected individual
            from a consanguineous Dutch family in the C12orf4 gene on
            chromosome 12.
REFERENCE   8  (bases 1 to 3817)
  AUTHORS   Hein,M.Y., Hubner,N.C., Poser,I., Cox,J., Nagaraj,N., Toyoda,Y.,
            Gak,I.A., Weisswange,I., Mansfeld,J., Buchholz,F., Hyman,A.A. and
            Mann,M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   9  (bases 1 to 3817)
  AUTHORS   Alazami,A.M., Patel,N., Shamseldin,H.E., Anazi,S., Al-Dosari,M.S.,
            Alzahrani,F., Hijazi,H., Alshammari,M., Aldahmesh,M.A., Salih,M.A.,
            Faqeih,E., Alhashem,A., Bashiri,F.A., Al-Owain,M., Kentab,A.Y.,
            Sogaty,S., Al Tala,S., Temsah,M.H., Tulbah,M., Aljelaify,R.F.,
            Alshahwan,S.A., Seidahmed,M.Z., Alhadid,A.A., Aldhalaan,H.,
            AlQallaf,F., Kurdi,W., Alfadhel,M., Babay,Z., Alsogheer,M.,
            Kaya,N., Al-Hassnan,Z.N., Abdel-Salam,G.M., Al-Sannaa,N., Al
            Mutairi,F., El Khashab,H.Y., Bohlega,S., Jia,X., Nguyen,H.C.,
            Hammami,R., Adly,N., Mohamed,J.Y., Abdulwahab,F., Ibrahim,N.,
            Naim,E.A., Al-Younes,B., Meyer,B.F., Hashem,M., Shaheen,R.,
            Xiong,Y., Abouelhoda,M., Aldeeri,A.A., Monies,D.M. and
            Alkuraya,F.S.
  TITLE     Accelerating novel candidate gene discovery in neurogenetic
            disorders via whole-exome sequencing of prescreened multiplex
            consanguineous families
  JOURNAL   Cell Rep 10 (2), 148-161 (2015)
   PUBMED   25558065
REFERENCE   10 (bases 1 to 3817)
  AUTHORS   Mazuc,E., Guglielmi,L., Bec,N., Parez,V., Hahn,C.S., Mollevi,C.,
            Parrinello,H., Desvignes,J.P., Larroque,C., Jupp,R., Dariavach,P.
            and Martineau,P.
  TITLE     In-cell intrabody selection from a diverse human library identifies
            C12orf4 protein as a new player in rodent mast cell degranulation
  JOURNAL   PLoS One 9 (8), e104998 (2014)
   PUBMED   25122211
  REMARK    GeneRIF: Mass spectrometry analysis identified protein RGD1311164
            (C12orf4), with no previously described function. Our data
            demonstrate that RGD1311164 is a cytoplasmic protein implicated in
            the early signaling events following FcepsilonRI-induced cell
            activation
            Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK074479.1, AL834377.1,
            BM556376.1 and R59546.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020374.3.
            
            Summary: This gene is highly conserved from nematodes to humans. In
            rat, the orthologous gene encodes a cytoplasmic protein that is
            involved in mast cell degranulation. The human gene has been
            implicated in autosomal recessive intellectual disability.
            [provided by RefSeq, Sep 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1 and 2
            both encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL834377.1, SRR1803613.55402.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261250.8/ ENSP00000261250.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1693              AK074479.1         40-1732
            1694-2336           AL834377.1         1696-2338
            2337-2337           BM556376.1         678-678
            2338-3814           AL834377.1         2340-3816
            3815-3817           R59546.1           13-15               c
FEATURES             Location/Qualifiers
     source          1..3817
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.32"
     gene            1..3817
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /note="FERRY endosomal RAB5 effector complex subunit 3"
                     /db_xref="GeneID:57102"
                     /db_xref="HGNC:HGNC:1184"
                     /db_xref="MIM:616082"
     exon            1..61
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            62..264
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1745
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /note="isoform a is encoded by transcript variant 1;
                     protein C12orf4"
                     /codon_start=1
                     /product="ferry endosomal RAB5 effector complex subunit 3
                     isoform a"
                     /protein_id="NP_065107.1"
                     /db_xref="CCDS:CCDS8528.1"
                     /db_xref="GeneID:57102"
                     /db_xref="HGNC:HGNC:1184"
                     /db_xref="MIM:616082"
                     /translation="MKKNRERFCNREREFVYKFKVGSQCLELRVPLKFPVQENASHLH
                     GRLMLLHSLPCFIEKDLKEALTQFIEEESLSDYDRDAEASLAAVKSGEVDLHQLASTW
                     AKAYAETTLEHARPEEPSWDEDFADVYHDLIHSPASETLLNLEHNYFVSISELIGERD
                     VELKKLRERQGIEMEKVMQELGKSLTDQDVNSLAAQHFESQQDLENKWSNELKQSTAI
                     QKQEYQEWVIKLHQDLKNPNNSSLSEEIKVQPSQFRESVEAIGRIYEEQRKLEESFTI
                     HLGAQLKTMHNLRLLRADMLDFCKHKRNHRSGVKLHRLQTALSLYSTSLCGLVLLVDN
                     RINSYSGIKRDFATVCQECTDFHFPRIEEQLEVVQQVVLYARTQRRSKLKESLDSGNQ
                     NGGNDDKTKNAERNYLNVLPGEFYITRHSNLSEIHVAFHLCVDDHVKSGNITARDPAI
                     MGLRNILKVCCTHDITTISIPLLLVHDMSEEMTIPWCLRRAELVFKCVKGFMMEMASW
                     DGGISRTVQFLVPQSISEEMFYQLSNMLPQIFRVSSTLTLTSKH"
     exon            265..410
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            411..592
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            593..692
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            693..814
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            815..921
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1119
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1248
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1323
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..1526
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            1527..1584
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            1585..1652
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     exon            1653..3817
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2119..2124
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /note="hexamer: ATTAAA"
     polyA_site      2137
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /note="major polyA site"
     regulatory      3796..3801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /note="hexamer: AATAAA"
     polyA_site      3817
                     /gene="FERRY3"
                     /gene_synonym="C12orf4; Fy-3; MRT66"
                     /note="major polyA site"
ORIGIN      
        1 agtgcaggac gcgctgacag ctcgagtgag cggactgccc aggacttcgg aactagacga
       61 gttctgtaga aatcctgtca aagaatatga agaaaaacag agaaagattc tgcaatagag
      121 agagagaatt tgtatataaa tttaaagtag gaagtcagtg cttagaactg agagtgccac
      181 tcaaatttcc tgttcaagag aatgccagtc atttgcatgg acgtctgatg ctgctgcaca
      241 gtttaccgtg ctttatagaa aaagacttaa aagaagctct gactcagttt atagaagaag
      301 aatccctcag cgattatgat agagatgctg aagcatccct ggcagctgtg aaatcaggtg
      361 aagtagattt acatcagctg gcgagtacat gggccaaagc ttatgctgag accacgttag
      421 agcatgcaag gcctgaagaa cccagctggg atgaagattt tgcagatgtg taccatgact
      481 taattcattc tcctgcctct gaaactctct taaatttgga acataattac tttgttagta
      541 tctcagaact gattggtgaa agagatgtgg agctgaaaaa attacgagag agacaaggta
      601 ttgaaatgga aaaagtcatg caggaattgg gaaaatcact gacagatcaa gatgtaaatt
      661 cactggctgc tcagcatttt gaatcccagc aagacctaga aaataaatgg tcgaatgaat
      721 taaaacaatc aactgccatc caaaaacaag agtatcaaga atgggtaata aaacttcacc
      781 aagacctaaa aaaccccaac aacagctccc ttagtgagga aattaaagtt cagccaagtc
      841 agttcagaga atctgtagaa gcaattggaa ggatttatga ggaacagaga aagttagaag
      901 aaagttttac cattcactta ggagcccagt tgaagaccat gcataatttg agattgctga
      961 gagcagatat gctggacttc tgtaagcata aaagaaatca tcgaagtggt gtgaaacttc
     1021 atcggctcca aacagctctg tcactttatt ctacatctct ctgtggcctg gttttactag
     1081 tagataatcg aattaattca tatagtggta ttaaaagaga ttttgccaca gtttgccaag
     1141 aatgcactga cttccatttc ccccgaattg aagagcaatt agaagttgtc caacaggtgg
     1201 tactttatgc tagaacccag cgcaggagta aattgaaaga atcacttgat tctggaaacc
     1261 aaaatggagg aaatgatgat aagactaaga atgctgagag gaactattta aatgttttac
     1321 ctggggaatt ttatattaca cggcattcta atctctcaga aatccatgtt gctttccatc
     1381 tctgtgtgga tgaccatgtg aaatcgggaa acatcactgc tcgtgatcct gccattatgg
     1441 gactccgaaa tatactcaaa gtttgctgta cccatgacat cacaacaata agcattcctc
     1501 tcttgctggt acatgatatg tcagaggaaa tgactatacc ctggtgctta aggagagcgg
     1561 aacttgtgtt caagtgtgtc aaaggtttca tgatggaaat ggcttcatgg gatggaggaa
     1621 tttctaggac agtgcaattt ctagtaccac agagtatttc tgaagaaatg ttttatcaac
     1681 ttagtaacat gcttccccag atcttccgag tatcatcaac actcactctg acatccaagc
     1741 actaaaccct tatagattga catgctggca gaagatgatt gttaaactct ccaggaactt
     1801 gtgctatgct gggaatctgt caagcaaaag atgcccagaa agagaacttg cagctcaatc
     1861 cacaaatcaa gatacatgtg tgtgaaacca ttccaaaaat ttatatactg cacaaactgg
     1921 tgatcaaccc ctaacttaaa cacttaaagt ctctttatga atttctcttt ttttcttctc
     1981 tgtgttacct gtgaatatta gtaatctaaa actttttatt tatcacacat ggacacttgg
     2041 gaaaggaaac ttgattatat ttacatggag gcatttgact ttttcaagag gcttgactcg
     2101 tctcaggtgc aatccttaat taaacataca aacaaaattt tccttttact ttctttgcca
     2161 aaacaaaatg taaaagcact gaaatataca ttgcaagtac aaatttcctg tgaaaatctt
     2221 tttatagaaa cacaaatgta taagacaaat gtgcttgttc ttttaaattc tcctgtttca
     2281 gaatctcttt ttaatctact cctaaggatg tacaagttag agtcagaaga cgttttggat
     2341 tttttccctc tctctcatcc tcccgctgtg cccttgcact tgcatattaa taacatttca
     2401 tggactggga aatagtgttc ttttttgcaa gcttgatgtc aagttagtct aaaccagcac
     2461 ctggcagtat tttagtgctc atcaacattg tgacaatcac acaaggaaga tcatttctac
     2521 atttctgtcc tccctgcgtt ctcagcttgc ttaaccattc ctctacctct tgcatttttt
     2581 tgcggataaa tgtatcccca tttctgcttc tctgtttccc ctccttttcc attgtttttc
     2641 cttatggtac tactttctca ggtgctacat atcatatatt tgtcccatct ataacatatt
     2701 taaatgctat aagtagtaac tccattaaac aaaggcattt acaaaagcac acaggtgttt
     2761 agaaaagcaa tagtttcatc aattccaagt tatgtggata ttgtaactgg ccacaagaat
     2821 gaaatggagg gcatttggtg tcataagatg gcatgtcttg atgacaagaa acaaaacgcc
     2881 cttcattaat atgcctcagt gtaataacta ttatagaaac tgttggcaag cagagtgctt
     2941 tcctataaca gaatgtgtct taattttcta ctcgagggaa aggtttgtcc aggtaacaac
     3001 actaaagaca accctaagaa cacccactcc agcagtatgt ccattagaca ctaaaactct
     3061 ccaaattatt tgtcagggag cctggcgatt ctgccaagaa ggcaggtgtt ttgcccttag
     3121 agcctataca gttctcttgg agaaattgtc tttcaggcac cactgttaat cactgagact
     3181 gattctaatg caaagcaggg aagacagagg cagaaaccag gagagtggta gatcagtgca
     3241 gcccagatat cggaatggag gagcaaagtt tcattcacgg atgtttgttg aatgctgctg
     3301 cccaactctt cctttgtcac ctctaggcta ttccactaag ttacttataa actggtggct
     3361 ttaactgagg gctgtgtaaa ggtactattt ggcatgtgaa gtcaggataa atttatcgaa
     3421 tgtccgtttt ccacatgcaa ctgtgttaca gaagtagtaa aattggaaga atcatgttta
     3481 tggtgttacc actgatggaa acacacaaac accaagctaa taataaatat ataacttaaa
     3541 aagctaatta tatgcactga aatggtggga attttagtga tgcagtaatt gaggagtctg
     3601 gagttttgta tttggaccaa gaattatgag atgaggatct ttttctgagt gttctaaagg
     3661 gcttcttgag ggggagtggt ttaaagcact tcatgaatga tgtgaagaag gtaccttggg
     3721 ctgagacagc attctaggta cagatggcac tctgttcaac caactgtgga tggaaaatat
     3781 tctgaaaaaa aatacaataa aaattttaaa aatacaa
//
