LOCUS       NM_030630               3298 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens HID1 domain containing (HID1), mRNA.
ACCESSION   NM_030630
VERSION     NM_030630.3
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 3298)
  AUTHORS   Schanzer,A., Achleitner,M.T., Trumbach,D., Hubert,L., Munnich,A.,
            Ahlemeyer,B., AlAbdulrahim,M.M., Greif,P.A., Vosberg,S., Hummer,B.,
            Feichtinger,R.G., Mayr,J.A., Wortmann,S.B., Aichner,H.,
            Rudnik-Schoneborn,S., Ruiz,A., Gabau,E., Sanchez,J.P., Ellard,S.,
            Homfray,T., Stals,K.L., Wurst,W., Neubauer,B.A., Acker,T.,
            Bohlander,S.K., Asensio,C., Besmond,C., Alkuraya,F.S.,
            AlSayed,M.D., Hahn,A. and Weber,A.
  TITLE     Mutations in HID1 Cause Syndromic Infantile Encephalopathy and
            Hypopituitarism
  JOURNAL   Ann Neurol 90 (1), 143-158 (2021)
   PUBMED   33999436
  REMARK    GeneRIF: Mutations in HID1 Cause Syndromic Infantile Encephalopathy
            and Hypopituitarism.
REFERENCE   2  (bases 1 to 3298)
  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   3  (bases 1 to 3298)
  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   4  (bases 1 to 3298)
  AUTHORS   Hummer,B.H., de Leeuw,N.F., Burns,C., Chen,L., Joens,M.S.,
            Hosford,B., Fitzpatrick,J.A.J. and Asensio,C.S.
  TITLE     HID-1 controls formation of large dense core vesicles by
            influencing cargo sorting and trans-Golgi network acidification
  JOURNAL   Mol Biol Cell 28 (26), 3870-3880 (2017)
   PUBMED   29074564
  REMARK    GeneRIF: Authors propose that HID-1 influences early steps in LDCV
            formation by controlling dense core formation at the TGN.
REFERENCE   5  (bases 1 to 3298)
  AUTHORS   Fong,K.W., Leung,J.W., Li,Y., Wang,W., Feng,L., Ma,W., Liu,D.,
            Songyang,Z. and Chen,J.
  TITLE     MTR120/KIAA1383, a novel microtubule-associated protein, promotes
            microtubule stability and ensures cytokinesis
  JOURNAL   J Cell Sci 126 (Pt 3), 825-837 (2013)
   PUBMED   23264731
REFERENCE   6  (bases 1 to 3298)
  AUTHORS   Wang,L., Zhan,Y., Song,E., Yu,Y., Jiu,Y., Du,W., Lu,J., Liu,P.,
            Xu,P. and Xu,T.
  TITLE     HID-1 is a peripheral membrane protein primarily associated with
            the medial- and trans- Golgi apparatus
  JOURNAL   Protein Cell 2 (1), 74-85 (2011)
   PUBMED   21337012
  REMARK    GeneRIF: mammalian HID-1 localized to the medial- and trans- Golgi
            apparatus as well as the cytosol.
REFERENCE   7  (bases 1 to 3298)
  AUTHORS   Pilot-Storck,F., Chopin,E., Rual,J.F., Baudot,A., Dobrokhotov,P.,
            Robinson-Rechavi,M., Brun,C., Cusick,M.E., Hill,D.E., Schaeffer,L.,
            Vidal,M. and Goillot,E.
  TITLE     Interactome mapping of the phosphatidylinositol 3-kinase-mammalian
            target of rapamycin pathway identifies deformed epidermal
            autoregulatory factor-1 as a new glycogen synthase kinase-3
            interactor
  JOURNAL   Mol Cell Proteomics 9 (7), 1578-1593 (2010)
   PUBMED   20368287
REFERENCE   8  (bases 1 to 3298)
  AUTHORS   Harada,H., Nagai,H., Tsuneizumi,M., Mikami,I., Sugano,S. and Emi,M.
  TITLE     Identification of DMC1, a novel gene in the TOC region on 17q25.1
            that shows loss of expression in multiple human cancers
  JOURNAL   J Hum Genet 46 (2), 90-95 (2001)
   PUBMED   11281419
REFERENCE   9  (bases 1 to 3298)
  AUTHORS   Masson,J.Y., Davies,A.A., Hajibagheri,N., Van Dyck,E., Benson,F.E.,
            Stasiak,A.Z., Stasiak,A. and West,S.C.
  TITLE     The meiosis-specific recombinase hDmc1 forms ring structures and
            interacts with hRad51
  JOURNAL   EMBO J 18 (22), 6552-6560 (1999)
   PUBMED   10562567
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA336027.1, BC035372.1, BX496609.1, AC087651.19 and BC032219.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030630.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.239215.1,
                                           SRR1803617.151698.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000425042.7/ ENSP00000413520.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                DA336027.1         47-84
            39-1608             BC035372.1         1-1570
            1609-2090           BX496609.1         27-508
            2091-2241           BC035372.1         2053-2203
            2242-2242           AC087651.19        99263-99263         c
            2243-3073           BC035372.1         2205-3035
            3074-3296           BC032219.1         2417-2639
            3297-3298           AC087651.19        97731-97732         c
FEATURES             Location/Qualifiers
     source          1..3298
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..3298
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /note="HID1 domain containing"
                     /db_xref="GeneID:283987"
                     /db_xref="HGNC:HGNC:15736"
                     /db_xref="MIM:605752"
     exon            1..169
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..2470
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /note="downregulated in multiple cancer 1; down-regulated
                     in multiple cancers 1; UPF0663 transmembrane protein
                     C17orf28; protein hid-1 homolog; HID1 domain-containing
                     protein"
                     /codon_start=1
                     /product="protein HID1"
                     /protein_id="NP_085133.1"
                     /db_xref="CCDS:CCDS32726.1"
                     /db_xref="GeneID:283987"
                     /db_xref="HGNC:HGNC:15736"
                     /db_xref="MIM:605752"
                     /translation="MGSTDSKLNFRKAVIQLTTKTQPVEATDDAFWDQFWADTATSVQ
                     DVFALVPAAEIRAVREESPSNLATLCYKAVEKLVQGAESGCHSEKEKQIVLNCSRLLT
                     RVLPYIFEDPDWRGFFWSTVPGAGRGGQGEEDDEHARPLAESLLLAIADLLFCPDFTV
                     QSHRRSTVDSAEDVHSLDSCEYIWEAGVGFAHSPQPNYIHDMNRMELLKLLLTCFSEA
                     MYLPPAPESGSTNPWVQFFCSTENRHALPLFTSLLNTVCAYDPVGYGIPYNHLLFSDY
                     REPLVEEAAQVLIVTLDHDSASSASPTVDGTTTGTAMDDADPPGPENLFVNYLSRIHR
                     EEDFQFILKGIARLLSNPLLQTYLPNSTKKIQFHQELLVLFWKLCDFNKKFLFFVLKS
                     SDVLDILVPILFFLNDARADQSRVGLMHIGVFILLLLSGERNFGVRLNKPYSIRVPMD
                     IPVFTGTHADLLIVVFHKIITSGHQRLQPLFDCLLTIVVNVSPYLKSLSMVTANKLLH
                     LLEAFSTTWFLFSAAQNHHLVFFLLEVFNNIIQYQFDGNSNLVYAIIRKRSIFHQLAN
                     LPTDPPTIHKALQRRRRTPEPLSRTGSQEGTSMEGSRPAAPAEPGTLKTSLVATPGID
                     KLTEKSQVSEDGTLRSLEPEPQQSLEDGSPAKGEPSQAWREQRRPSTSSASGQWSPTP
                     EWVLSWKSKLPLQTIMRLLQVLVPQVEKICIDKGLTDESEILRFLQHGTLVGLLPVPH
                     PILIRKYQANSGTAMWFRTYMWGVIYLRNVDPPVWYDTDVKLFEIQRV"
     exon            170..319
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            320..490
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            491..607
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            608..714
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            715..831
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            832..1054
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1111
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1252
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1343
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1495
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1574
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1739
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1967
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2074
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2075..2155
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2156..2247
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2248..2406
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2407..3298
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3278..3283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /note="hexamer: AATAAA"
     polyA_site      3298
                     /gene="HID1"
                     /gene_synonym="17orf28; C17orf28; DEE105; DMC1; HID-1"
                     /note="major polyA site"
ORIGIN      
        1 gtctcctgcg agagccgcgg gggccgcgga gctggagccg gagctgaagc cggagccggg
       61 ttggagtctg ggcgggggcc gggccggagc gggctccaga gacatggggt cgaccgactc
      121 caagctgaac ttccggaagg cggtgatcca gctcaccacc aagacgcagc ccgtggaagc
      181 caccgatgat gccttttggg accagttctg ggcagacaca gccacctcgg tgcaggatgt
      241 gtttgcactg gtgccggcag cagagatccg ggccgtgcgg gaagagtcac cctccaactt
      301 ggccaccctg tgctacaagg ccgttgagaa gctggtgcag ggagctgaga gtggctgcca
      361 ctcggagaag gagaagcaga tcgtcctgaa ctgcagccgg ctgctcaccc gcgtgctgcc
      421 ctacatcttt gaggaccccg actggagggg cttcttctgg tccacagtgc ccggggcagg
      481 gcgaggaggg cagggagaag aggatgatga gcatgccagg cccctggccg agtccctgct
      541 cctggccatt gctgacctgc tcttctgccc ggacttcacg gttcagagcc accggaggag
      601 cactgtggac tcggcagagg acgtccactc cctggacagc tgtgaataca tctgggaggc
      661 tggtgtgggc ttcgctcact ccccccagcc taactacatc cacgatatga accggatgga
      721 gctgctgaaa ctgctgctga catgcttctc cgaggccatg tacctgcccc cagctccgga
      781 aagtggcagc accaacccat gggttcagtt cttttgttcc acggagaaca gacatgccct
      841 gcccctcttc acctccctcc tcaacaccgt gtgtgcctat gaccctgtgg gctacgggat
      901 cccctacaac cacctgctct tctctgacta ccgggaaccc ctggtggagg aggctgccca
      961 ggtgctcatt gtcactttgg accacgacag tgccagcagt gccagcccca ctgtggacgg
     1021 caccaccact ggcaccgcca tggatgatgc cgatcctcca ggccctgaga acctgtttgt
     1081 gaactacctg tcccgcatcc atcgtgagga ggacttccag ttcatcctca agggtatagc
     1141 ccggctgctg tccaaccccc tgctccagac ctacctgcct aactccacca agaagatcca
     1201 gttccaccag gagctgctag ttctcttctg gaagctctgc gacttcaaca agaaattcct
     1261 cttcttcgtg ctgaagagca gcgacgtcct agacatcctt gtccccatcc tcttcttcct
     1321 caacgatgcc cgggccgatc agtctcgggt gggcctgatg cacattggtg tcttcatctt
     1381 gctgcttctg agcggggagc ggaacttcgg ggtgcggctg aacaaaccct actcaatccg
     1441 cgtgcccatg gacatcccag tcttcacagg gacccacgcc gacctgctca ttgtggtgtt
     1501 ccacaagatc atcaccagcg ggcaccagcg gttgcagccc ctcttcgact gcctgctcac
     1561 catcgtggtc aacgtgtccc cctacctcaa gagcctgtcc atggtgactg ccaacaagtt
     1621 gctgcacctg ctggaggcct tctccaccac ctggttcctc ttctctgccg cccagaacca
     1681 ccacctggtc ttcttcctcc tggaggtctt caacaacatc atccagtacc agtttgatgg
     1741 caactccaac ctggtctacg ccatcatccg caagcgcagc atcttccacc agctggccaa
     1801 cctgcccacg gacccgccca ccattcacaa ggccctgcag cggcgccggc ggacacctga
     1861 gcccttgtct cgcaccggct cccaggaggg cacctccatg gagggctccc gccccgctgc
     1921 ccctgcagag ccaggcaccc tcaagaccag tctggtggct actccaggca ttgacaagct
     1981 gaccgagaag tcccaggtgt cagaggatgg caccttgcgg tccctggaac ctgagcccca
     2041 gcagagcttg gaggatggca gcccggctaa gggggagccc agccaggcat ggagggagca
     2101 gcggcgaccg tccacctcat cagccagtgg gcagtggagc ccaacgccag agtgggtcct
     2161 ctcctggaag tcgaagctgc cgctgcagac catcatgagg ctgctgcagg tgctggttcc
     2221 gcaggtggag aagatctgca ttgacaaggg cctgacggat gagtctgaga tcctgcggtt
     2281 cctgcagcat ggcaccctgg tggggctgct gcccgtgccc caccccatcc tcatccgcaa
     2341 gtaccaggcc aactcgggca ctgccatgtg gttccgcacc tacatgtggg gcgtcatcta
     2401 tctgaggaat gtggaccccc ctgtctggta cgacaccgac gtgaagctgt ttgagataca
     2461 gcgggtgtga ggatgaagcc gacgaggggc tcagtctagg ggaaggcagg gccttggtcc
     2521 ctgaggcttc ccccatccac cattctgagc tttaaattac cacgatcagg gcctggaaca
     2581 ggcagagtgg ccctgagtgt catgccctag agacccctgt ggccaggaca atgtgaactg
     2641 gctcagatcc ccctcaaccc ctaggctgga ctcacaggag ccccatctct ggggctatgc
     2701 ccccaccaga gaccactgcc cccaacactc ggactccctc tttaagacct ggctcagtgc
     2761 tggcccctca gtgcccaccc actcctgtgc tacccagccc cagaggcaga agccaatggg
     2821 tcactgtgcc ctaaggggtt tgaccaggga accacgggct gtcccttgag gtgcctggac
     2881 agggtaaggg ggtgcttcca gcctcctaac ccaaagccag ctgttccagg ctccagggga
     2941 aaaaggtgtg gccaggctgc tcctcgagga ggctgggagc tggccgactg caaaagccag
     3001 actggggcac ctcccgtatc cttggggcat ggtgtggggt ggtgagggtc tcctgctata
     3061 ttctcctgga tccatggaaa tagcctggct ccctcttacc cagtaatgag gggcagggaa
     3121 gggaactggg aggcagccgt ttagtcctcc ctgccctgcc cactgcctgg atggggcgat
     3181 gccacccctc atccttcacc cagctctggc ctctgggtcc caccacccag ccccccgtgt
     3241 cagaacaatc tttgctctgt acaatcggcc tctttacaat aaaacctcct gctccaca
//
