LOCUS       NM_001352890            5527 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens DENN domain containing 3 (DENND3), transcript variant
            1, mRNA.
ACCESSION   NM_001352890 XM_005250839
VERSION     NM_001352890.3
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  (bases 1 to 5527)
  AUTHORS   Li,Y., Xu,A., Ouyang,Q., Zhang,W., Zhang,C., Chen,Z., Zhou,D.,
            Zhang,B., Duan,W., Zhao,X., Wang,X., You,H., Ou,X., Jia,J. and
            Huang,J.
  TITLE     DENND3 p.L708V activating variant is involved in the pathogenesis
            of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway
  JOURNAL   Hepatol Int 17 (3), 648-661 (2023)
   PUBMED   36729283
  REMARK    GeneRIF: DENND3 p.L708V activating variant is involved in the
            pathogenesis of hereditary hemochromatosis via the RAB12/TFR2
            signaling pathway.
REFERENCE   2  (bases 1 to 5527)
  AUTHORS   Xu,J., Kozlov,G., McPherson,P.S. and Gehring,K.
  TITLE     A PH-like domain of the Rab12 guanine nucleotide exchange factor
            DENND3 binds actin and is required for autophagy
  JOURNAL   J Biol Chem 293 (12), 4566-4574 (2018)
   PUBMED   29352104
  REMARK    GeneRIF: show that DENND3 binds actin through a surface of
            positively charged residues on the PHenn domain of Ran12
REFERENCE   3  (bases 1 to 5527)
  AUTHORS   Xu,J. and McPherson,P.S.
  TITLE     Regulation of DENND3, the exchange factor for the small GTPase
            Rab12 through an intramolecular interaction
  JOURNAL   J Biol Chem 292 (17), 7274-7282 (2017)
   PUBMED   28249939
  REMARK    GeneRIF: DENND3 is the exchange factor for the small GTPase Rab12
            regulated through an intramolecular interaction
REFERENCE   4  (bases 1 to 5527)
  AUTHORS   Xu,J., Fotouhi,M. and McPherson,P.S.
  TITLE     Phosphorylation of the exchange factor DENND3 by ULK in response to
            starvation activates Rab12 and induces autophagy
  JOURNAL   EMBO Rep 16 (6), 709-718 (2015)
   PUBMED   25925668
  REMARK    GeneRIF: a novel signaling pathway identified whereby
            starvation-induced activation of ULK leads to phosphorylation of
            endogenous DENND3, with subsequent activation of Rab12 and
            initiation of membrane trafficking events required for autophagy
REFERENCE   5  (bases 1 to 5527)
  AUTHORS   Weber,F., Cepok,S., Wolf,C., Berthele,A., Uhr,M., Bettecken,T.,
            Buck,D., Hartung,H.P., Holsboer,F., Muller-Myhsok,B. and Hemmer,B.
  TITLE     Single-nucleotide polymorphisms in HLA- and non-HLA genes
            associated with the development of antibodies to interferon-beta
            therapy in multiple sclerosis patients
  JOURNAL   Pharmacogenomics J 12 (3), 238-245 (2012)
   PUBMED   21502966
REFERENCE   6  (bases 1 to 5527)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   7  (bases 1 to 5527)
  AUTHORS   Yoshimura,S., Gerondopoulos,A., Linford,A., Rigden,D.J. and
            Barr,F.A.
  TITLE     Family-wide characterization of the DENN domain Rab GDP-GTP
            exchange factors
  JOURNAL   J Cell Biol 191 (2), 367-381 (2010)
   PUBMED   20937701
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC040970.7, BC110827.1, BX331731.2 and CA413644.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001352890.2.
            
            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 :: SRR1803613.45691.1,
                                           SRR1803612.227609.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000519811.6/ ENSP00000428714.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-221               AC040970.7         116248-116468
            222-321             BC110827.1         152-251
            322-322             BX331731.2         239-239
            323-504             BC110827.1         253-434
            505-620             AC040970.7         125681-125796
            621-742             AC040970.7         128862-128983
            743-854             AC040970.7         131807-131918
            855-974             AC040970.7         138493-138612
            975-1193            AC040970.7         139278-139496
            1194-1315           AC040970.7         143508-143629
            1316-1471           AC040970.7         148291-148446
            1472-1568           AC040970.7         150992-151088
            1569-1672           AC040970.7         152845-152948
            1673-1872           AC040970.7         153849-154048
            1873-2394           AC040970.7         155663-156184
            2395-2654           AC040970.7         162859-163118
            2655-2825           AC040970.7         164250-164420
            2826-2955           AC040970.7         165726-165855
            2956-3063           AC040970.7         168406-168513
            3064-3203           AC040970.7         172798-172937
            3204-3364           AC040970.7         176645-176805
            3365-3498           AC040970.7         177943-178076
            3499-3617           AC040970.7         179990-180108
            3618-3755           AC040970.7         180185-180322
            3756-4820           AC040970.7         181692-182756
            4821-5527           CA413644.1         18-724              c
FEATURES             Location/Qualifiers
     source          1..5527
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..5527
                     /gene="DENND3"
                     /note="DENN domain containing 3"
                     /db_xref="GeneID:22898"
                     /db_xref="HGNC:HGNC:29134"
                     /db_xref="MIM:617503"
     exon            1..221
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..3956
                     /gene="DENND3"
                     /note="isoform 1 is encoded by transcript variant 1; DENN
                     domain-containing protein 3; DENN/MADD domain containing
                     3"
                     /codon_start=1
                     /product="DENN domain-containing protein 3 isoform 1"
                     /protein_id="NP_001339819.2"
                     /db_xref="CCDS:CCDS87629.1"
                     /db_xref="GeneID:22898"
                     /db_xref="HGNC:HGNC:29134"
                     /db_xref="MIM:617503"
                     /translation="MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHL
                     SALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGP
                     PRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVA
                     QYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKD
                     FEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLL
                     CFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQM
                     LDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLA
                     AQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIF
                     RDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQM
                     DLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAP
                     RNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEA
                     MCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVES
                     MSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQES
                     GIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDK
                     NECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLL
                     RRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNV
                     LLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQ
                     AVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNC
                     MVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCS
                     MDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELK
                     IEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEIN
                     CMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVL
                     SGSGREEGKVAIWKGE"
     exon            222..504
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            505..620
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            621..742
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            743..854
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            855..974
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1193
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..1315
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1471
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1568
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            1569..1672
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            1673..1872
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            1873..2394
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            2395..2654
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            2655..2825
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            2826..2955
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            2956..3063
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            3064..3203
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            3204..3364
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            3365..3498
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            3499..3617
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            3618..3755
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     exon            3756..5527
                     /gene="DENND3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3952..3957
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DENND3"
                     /note="hexamer: AATAAA"
     polyA_site      3971
                     /gene="DENND3"
     regulatory      5506..5511
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DENND3"
                     /note="hexamer: AATAAA"
     polyA_site      5527
                     /gene="DENND3"
                     /note="major polyA site"
ORIGIN      
        1 gcagacggcg ctcgcagcgc ccccggcccc caggcggcgc ggctggtccc caggggtctg
       61 cgggcgactg cgcggctgag gcgcccgagt gcggtactgg cggcgggcgg cgggcagcca
      121 tggcggaggc cgcgtcgccg cacttgtcgc tgccctcggg gctgctggag ctctgcgcgc
      181 tgctgggcgc cccccgggac agtctccgaa gtctcgagca ggttgcttat aaaaagggag
      241 tcaaacatct ttctgctctt cttgatccag aggtcctgtc cattttcgtg cctcctttta
      301 tcagtaaaga ggacagtcaa atggccggtg ccaactgcgg cactctcggt aaaacccgga
      361 tgcgctcctt gagaaagaag agagagaagc ccagaccaga gcagtggaag ggcctcccgg
      421 ggccccccag agcgccagag cctgaggatg tcgccgtccc gggcggcgtg gacctcctca
      481 ccctgccgca gctgtgcttc ccagggggtg tgtgcgtggc cactgaacct aaggaggatt
      541 gcgtccactt cctggtgctg accgatgtct gcgggaatag gacctatggc gtggtggccc
      601 agtactaccg gcccctgcat gatgagtact gtttctacaa tggcaaaacg caccgggagt
      661 gtcctggctg cttcgtgccc ttcgcggtgt gcgtggtctc caggtttccc tattacaact
      721 ccctcaagga ctgcctttcc tgtttattgg ctcttctgaa gccctgtaaa gattttgaag
      781 tggacagtca tataaaagat ttcgctgcga agctgtcttt aatacccagc ccgccacctg
      841 gaccgctcca tttggtattt aacatgaagt cgctccagat tgtgttacct gcccgagcag
      901 accccgaaag ccccatcctg gacctggacc ttcacctgcc cttgctgtgc ttcaggcctg
      961 agaaggtgct acagatcctg acatgcatcc tgacggaaca gcggatcgtc ttcttctcct
     1021 cggactgggc tctgctgacg ctggtcactg agtgcttcat ggcctacctg tatccgctgc
     1081 agtggcagca ccccttcgtg cccatcctgt cggaccagat gctggatttc gtcatggccc
     1141 ccacgtcctt cctgatgggc tgccatctcg accacttcga agaagtcagc aaggaagccg
     1201 acggtttagt tctgataaat attgatcatg ggagcatcac ctactccaag tccacggacg
     1261 ataacgtgga cattcctgat gtccccctcc tggcagccca gacgtttatt cagagggtgc
     1321 agagcctcca gctccaccat gagctgcacg ccgcccacct cctctccagc acagacctga
     1381 aggagggccg agcccaccgg cggtcctggc agcagaaact caactgccag atacagcaga
     1441 ccaccctgca gctgctcgtg agcatcttca gggatgtaaa gaatcattta aactatgaac
     1501 acagagtctt taatagtgaa gaatttctca aaaccagggc tccaggggac catcagtttt
     1561 ataagcaggt cttagacacc tacatgttcc attcttttct taaagcccgg ctcaatagga
     1621 ggatggacgc ctttgctcag atggacctcg acacccagtc ggaggaggac agaataaatg
     1681 gaatgcttct aagtccaagg agaccgaccg ttgagaaaag agcctcccgg aagtcctcgc
     1741 acctgcatgt cacccacagg cgcatggtgg tcagcatgcc caacctgcag gacattgcca
     1801 tgcctgagct ggcacccagg aactcctcgc tccggctgac ggacaccgca ggctgtaggg
     1861 gcagcagcgc agttctgaat gtcacgccga agtccccgta tacattcaag attcccgaaa
     1921 tccactttcc gctggagagc aagtgcgtgc aggcatacca tgcccacttt gtctccatgc
     1981 tgagcgaggc catgtgcttt ctggcccccg ataactctct gctcctggcc cgctatttgt
     2041 acctccgagg gctcgtttat ctgatgcagg gacagctgct gaacgccctc ttggacttcc
     2101 agaatctgta taaaacagac atacggatct ttcccactga tttggtgaag aggacggtgg
     2161 aatccatgtc tgcccctgag tgggaggggg ctgagcaggc gccggagctg atgaggctca
     2221 tcagcgagat cctggacaag ccgcacgagg cctcgaagct ggacgaccac gtgaagaagt
     2281 tcaagctgcc caagaagcac atgcagctgg gcgacttcat gaagcgggtc caggagtcag
     2341 ggatcgtgaa ggacgccagc atcatacacc ggctgttcga ggccttgact gtaggacagg
     2401 agaaacaaat cgacccagaa acattcaaag atttctacaa ctgctggaag gagacggaag
     2461 cagaagccca ggaggtcagt ctgccgtggc tggtgatgga acacctggat aaaaacgagt
     2521 gtgtgtgtaa gttgtccagc tccgtcaaga caaacctagg cgttggcaag atcgccatga
     2581 cccagaagcg cctgttcctc ctaaccgaag gaaggccagg ctacttggag atttccacct
     2641 tcagaaatat agaggaggtc aggagaacca ctactacatt tctacttcgg agaataccca
     2701 ctttaaaaat cagagtggcg tccaagaaag aagtcttcga agccaacctg aaaaccgagt
     2761 gtgacctttg gcacctgatg gtgaaggaga tgtgggctgg gaagaagctg gccgatgacc
     2821 acaaggaccc tcactacgtc cagcaggcgc tgaccaacgt cttgctgatg gacgccgtcg
     2881 tgggcacact gcagtcacca ggcgccatct acgctgcctc caagttatcc tactttgata
     2941 agatgagtaa cgaaatgccc atgacgcttc cggagacaac cctggaaaca ctgaagcata
     3001 aaatcaaccc ctcggcgggg gaggcgttcc cacaagcggt ggacgtgctg ctctacactc
     3061 cagggcatct tgacccagcc gaaaaagttg aagatgctca ccccaagtta tggtgtgctc
     3121 tgagcgaagg caaggtgacc gtgttcaatg cttcttcatg gaccatccac cagcactcct
     3181 ttaaagtggg cactgcaaaa gtgaactgca tggtgatggc cgaccagaac caggtgtggg
     3241 ttggctcgga agactccgtc atctacatca tcaacgtcca cagcatgtcc tgcaacaagc
     3301 agctcacagc ccactgctcc agtgtcacgg atttgattgt gcaggacgga caggaggcac
     3361 ccagcaacgt gtactcgtgc agcatggacg gcatggtgct ggtgtggaat gtgagcacac
     3421 tgcaggtgac cagccgcttc cagctgccgc gaggtggcct gacgtccatc agactgcacg
     3481 gcggccgcct gtggtgctgc acaggtaaca gcatcatggt catgaaaatg aatggatccc
     3541 tccatcaaga attgaagatt gaggagaact tcaaagacac cagtacctcc ttcctggcct
     3601 tccagctcct tcctgaggag gagcagctgt gggcggcctg tgcaggacgc agcgaggttt
     3661 acatctggag cctgaaggac ctggcccagc ccccgcagag ggtgcccctc gaggactgct
     3721 ctgagatcaa ctgcatgatc cgggtgaaga agcaggtctg ggtgggcagc cgagggctgg
     3781 ggcagggaac acccaagggg aaaatctacg tgattgacgc cgagaggaag accgtggaga
     3841 aggagctggt ggcgcacatg gacaccgtga ggacgctgtg ctcggctgag gacagatacg
     3901 tgctgagtgg gtcgggcagg gaggagggga aagtcgccat ttggaaaggc gaataaacgt
     3961 ggctgagtct gccaagtgga actgtgccct atgtgtgggg actggctgcc ccctagagcc
     4021 tgccaggagc agaagcctgg aggggtggca gggcagagca gcccaggctc agcatggagc
     4081 ccacttaccg tgtggccagc cgcgagaccc atggccacgc accttctctc aggccttcgg
     4141 gccccctggt taaactgcac caagggtgtt tcctgttggg gtgtgtctca ggcaggcagc
     4201 tgcgtcttgt tggtgataac ctctgctggg aggttacttt gttgcctaga aagttctgga
     4261 atccacaacc aggggctggc actggagcca gcagcttggc cgagtcacag gtgacccgtg
     4321 gccctcacgt ctctggtttt acctttcctt acttcattca ttcactcacc cagtccttac
     4381 gaatcaccga ggaacactgg gctgagcaca tgacagggag cctggagccc cggggcctcc
     4441 agcgaggcct gagaagggtg gttcgggtaa ccactgtggg ctctctccca tcacagaagg
     4501 tggacagggc ctacccaggt ggaggggacc accctgcgat caggtgtttg cgacaggggt
     4561 tgggccagct gaggcaagct gtcttttttc ccttttcttt ttaatagatg caacattttt
     4621 ataataatcc tagagacctt ttttctacca aagatcacag accagaaaaa gttccatcta
     4681 aaatatcatg cccaggaaag cacatgggat caaaagtaaa atagcatcat gtgtgatctc
     4741 gtcttccagc gtgccgctca gttccccgaa tccgtgtgca cacgtgtgat ctcgtcttca
     4801 gtgtgccgct cagttccctg aatccgtgtg cacactgcgt atgtgtacgc gcagcatgct
     4861 atactgaact caacaagatc ttggctgtac ataaatattt gtaaaagaga ccctttgcac
     4921 ctttttactg taatgttgag acttcattac ttaaatgttc tacggaaggt tctggtgtgg
     4981 ttgttggagc cggagggagc gtgtcagcac gtgctgaggg catggggcct gccccctggg
     5041 cacccatcca caagctgggc cacggagctc cagcttctca ggacaaagcc ccggggctgg
     5101 cgcatcctga gggtctctgg gggtgtttgc caggctcctg ggatgggccg ctttcagaag
     5161 ccctgcagtg cctccagatg gaaaggcggg cccggcctcc ggttgggtct gcattttgga
     5221 gagtccacac cacggaccag gttttccccc aaggcttggc tttgtgtagc tactaacttc
     5281 ttggggcatt ctgagagtgt gggcagagag aattatgtgg cctcatcctc ccccaaggct
     5341 gtgcttgcag cccgggcacc ttcccacttt ctagctctgg agaggttgga ttttgctttt
     5401 gtaaacacat gaatccttat gataaaagtc tgtcagtcaa aaatacattt ataaattatt
     5461 taatgccagt cctcatgtaa cctcaggtat cttcagcttg tggagaataa atctggttta
     5521 ataaaca
//
