LOCUS       NM_001377229            4796 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens dispatched RND transporter family member 1 (DISP1),
            transcript variant 5, mRNA.
ACCESSION   NM_001377229
VERSION     NM_001377229.1
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 4796)
  AUTHORS   Lavillaureix,A., Rollier,P., Kim,A., Panasenkava,V., De Tayrac,M.,
            Carre,W., Guyodo,H., Faoucher,M., Poirel,E., Akloul,L., Quelin,C.,
            Whalen,S., Bos,J., Broekema,M., van Hagen,J.M., Grand,K.,
            Allen-Sharpley,M., Magness,E., McLean,S.D., Kayserili,H.,
            Altunoglu,U., En Qi Chong,A., Xue,S., Jeanne,M., Almontashiri,N.,
            Habhab,W., Vanlerberghe,C., Faivre,L., Viora-Dupont,E.,
            Philippe,C., Safraou,H., Laffargue,F., Mittendorf,L., Abou
            Jamra,R., Patil,S.J., Dalal,A., Sarma,A.S., Keren,B., Reversade,B.,
            Dubourg,C., Odent,S. and Dupe,V.
  TITLE     DISP1 deficiency: Monoallelic and biallelic variants cause a
            spectrum of midline craniofacial malformations
  JOURNAL   Genet Med 26 (7), 101126 (2024)
   PUBMED   38529886
  REMARK    GeneRIF: DISP1 deficiency: Monoallelic and biallelic variants cause
            a spectrum of midline craniofacial malformations.
REFERENCE   2  (bases 1 to 4796)
  AUTHORS   Ehring,K., Manikowski,D., Goretzko,J., Froese,J., Gude,F.,
            Jakobs,P., Rescher,U., Kirchhefer,U. and Grobe,K.
  TITLE     Conserved cholesterol-related activities of Dispatched 1 drive
            Sonic hedgehog shedding from the cell membrane
  JOURNAL   J Cell Sci 135 (5) (2022)
   PUBMED   34308968
  REMARK    GeneRIF: Conserved cholesterol-related activities of Dispatched 1
            drive Sonic hedgehog shedding from the cell membrane.
REFERENCE   3  (bases 1 to 4796)
  AUTHORS   Li,W., Wang,L., Wierbowski,B.M., Lu,M., Dong,F., Liu,W., Li,S.,
            Wang,P., Salic,A. and Gong,X.
  TITLE     Structural insights into proteolytic activation of the human
            Dispatched1 transporter for Hedgehog morphogen release
  JOURNAL   Nat Commun 12 (1), 6966 (2021)
   PUBMED   34845226
  REMARK    GeneRIF: Structural insights into proteolytic activation of the
            human Dispatched1 transporter for Hedgehog morphogen release.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4796)
  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 4796)
  AUTHORS   Chen,H., Liu,Y. and Li,X.
  TITLE     Structure of human Dispatched-1 provides insights into Hedgehog
            ligand biogenesis
  JOURNAL   Life Sci Alliance 3 (8), e202000776 (2020)
   PUBMED   32646883
  REMARK    GeneRIF: Structure of human Dispatched-1 provides insights into
            Hedgehog ligand biogenesis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4796)
  AUTHORS   Roessler,E., Ma,Y., Ouspenskaia,M.V., Lacbawan,F., Bendavid,C.,
            Dubourg,C., Beachy,P.A. and Muenke,M.
  TITLE     Truncating loss-of-function mutations of DISP1 contribute to
            holoprosencephaly-like microform features in humans
  JOURNAL   Hum Genet 125 (4), 393-400 (2009)
   PUBMED   19184110
  REMARK    GeneRIF: describe two independent families with truncating
            mutations in DISP1 that resemble the cardinal craniofacial and
            neuro-developmental features of a recently described microdeletion
            syndrome that includes this gene
REFERENCE   7  (bases 1 to 4796)
  AUTHORS   Katoh,Y. and Katoh,M.
  TITLE     Hedgehog signaling pathway and gastric cancer
  JOURNAL   Cancer Biol Ther 4 (10), 1050-1054 (2005)
   PUBMED   16258256
  REMARK    Review article
REFERENCE   8  (bases 1 to 4796)
  AUTHORS   Ma,Y., Erkner,A., Gong,R., Yao,S., Taipale,J., Basler,K. and
            Beachy,P.A.
  TITLE     Hedgehog-mediated patterning of the mammalian embryo requires
            transporter-like function of dispatched
  JOURNAL   Cell 111 (1), 63-75 (2002)
   PUBMED   12372301
REFERENCE   9  (bases 1 to 4796)
  AUTHORS   Burke,R., Nellen,D., Bellotto,M., Hafen,E., Senti,K.A.,
            Dickson,B.J. and Basler,K.
  TITLE     Dispatched, a novel sterol-sensing domain protein dedicated to the
            release of cholesterol-modified hedgehog from signaling cells
  JOURNAL   Cell 99 (7), 803-815 (1999)
   PUBMED   10619433
REFERENCE   10 (bases 1 to 4796)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL392172.9 and AC093152.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The pattern of cellular proliferation and differentiation
            that leads to normal development of embryonic structures often
            depends upon the localized production of secreted protein signals.
            Cells surrounding the source of a particular signal respond in a
            graded manner according to the effective concentration of the
            signal, and this response produces the pattern of cell types
            constituting the mature structure. A novel segment-polarity gene
            known as dispatched has been identified in Drosophila and its
            protein product is required for normal Hedgehog (Hh) signaling.
            This gene is one of two human homologs of Drosophila dispatched
            and, based on sequence identity to its mouse counterpart, the
            encoded protein may play an essential role in Hh patterning
            activities in the early embryo. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.271518.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000675850.1/ ENSP00000502357.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AL392172.9         127356-127395
            41-181              AC093152.2         33528-33668
            182-707             AC093152.2         47905-48430
            708-737             AC093152.2         88178-88207
            738-861             AC093152.2         95723-95846
            862-989             AC093152.2         96618-96745
            990-1087            AC093152.2         97111-97208
            1088-1185           AC093152.2         99983-100080
            1186-4796           AC093152.2         107483-111093
FEATURES             Location/Qualifiers
     source          1..4796
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     gene            1..4796
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /note="dispatched RND transporter family member 1"
                     /db_xref="GeneID:84976"
                     /db_xref="HGNC:HGNC:19711"
                     /db_xref="MIM:607502"
     exon            1..40
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /inference="alignment:Splign:2.1.0"
     exon            41..181
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /inference="alignment:Splign:2.1.0"
     exon            182..707
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /inference="alignment:Splign:2.1.0"
     CDS             199..4773
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /note="isoform 1 is encoded by transcript variant 5;
                     protein dispatched homolog 1; dispatched A"
                     /codon_start=1
                     /product="protein dispatched homolog 1 isoform 1"
                     /protein_id="NP_001364158.1"
                     /db_xref="CCDS:CCDS1536.1"
                     /db_xref="GeneID:84976"
                     /db_xref="HGNC:HGNC:19711"
                     /db_xref="MIM:607502"
                     /translation="MAMSNGNNDFVVLSNSSIATSAANPSPLTPCDGDHAAQQLTPKE
                     ATRTKVSPNGCLQLNGTVKSSFLPLDNQRMPQMLPQCCHPCPYHHPLTSHSSHQECHP
                     EAGPAAPSALASCCMQPHSEYSASLCPNHSPVYQTTCCLQPSPSFCLHHPWPDHFQHQ
                     PVQQHIANIRPSRPFKLPKSYAALIADWPVVVLGMCTMFIVVCALVGVLVPELPDFSD
                     PLLGFEPRGTAIGQRLVTWNNMVKNTGYKATLANYPFKYADEQAKSHRDDRWSDDHYE
                     REKREVDWNFHKDSFFCDVPSDRYSRVVFTSSGGETLWNLPAIKSMCNVDNSRIRSHP
                     QFGDLCQRTTAASCCPSWTLGNYIAILNNRSSCQKIVERDVSHTLKLLRTCAKHYQNG
                     TLGPDCWDMAARRKDQLKCTNVPRKCTKYNAVYQILHYLVDKDFMTPKTADYATPALK
                     YSMLFSPTEKGESMMNIYLDNFENWNSSDGVTTITGIEFGIKHSLFQDYLLMDTVYPA
                     IAIVIVLLVMCVYTKSMFITLMTMFAIISSLIVSYFLYRVVFHFEFFPFMNLTALIIL
                     VGIGADDAFVLCDVWNYTKFDKPHAETSETVSITLQHAALSMFVTSFTTAAAFYANYV
                     SNITAIRCFGVYAGTAILVNYVLMVTWLPAVVVLHERYLLNIFTCFKKPQQQIYDNKS
                     CWTVACQKCHKVLFAISEASRIFFEKVLPCIVIKFRYLWLFWFLALTVGGAYIVCINP
                     KMKLPSLELSEFQVFRSSHPFERYDAEYKKLFMFERVHHGEELHMPITVIWGVSPEDN
                     GNPLNPKSKGKLTLDSSFNIASPASQAWILHFCQKLRNQTFFYQTDEQDFTSCFIETF
                     KQWMENQDCDEPALYPCCSHWSFPYKQEIFELCIKRAIMELERSTGYHLDSKTPGPRF
                     DINDTIRAVVLEFQSTYLFTLAYEKMHQFYKEVDSWISSELSSAPEGLSNGWFVSNLE
                     FYDLQDSLSDGTLIAMGLSVAVAFSVMLLTTWNIIISLYAIISIAGTIFVTVGSLVLL
                     GWELNVLESVTISVAVGLSVDFAVHYGVAYRLAPDPDREGKVIFSLSRVGSAMAMAAL
                     TTFVAGAMMMPSTVLAYTQLGTFMMLIMCISWAFATFFFQCMCRCLGPQGTCGQIPLP
                     KKLQCSAFSHALSTSPSDKGQSKTHTINAYHLDPRGPKSELEHEFYELEPLASHSCTA
                     PEKTTYEETHICSEFFNSQAKNLGMPVHAAYNSELSKSTESDAGSALLQPPLEQHTVC
                     HFFSLNQRCSCPDAYKHLNYGPHSCQQMGDCLCHQCSPTTSSFVQIQNGVAPLKATHQ
                     AVEGFVHPITHIHHCPCLQGRVKPAGMQNSLPRNFFLHPVQHIQAQEKIGKTNVHSLQ
                     RSIEEHLPKMAEPSSFVCRSTGSLLKTCCDPENKQRELCKNRDVSNLESSGGTENKAG
                     GKVELSLSQTDASVNSEHFNQNEPKVLFNHLMGEAGCRSCPNNSQSCGRIVRVKCNSV
                     DCQMPNMEANVPAVLTHSELSGESLLIKTL"
     exon            708..737
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /inference="alignment:Splign:2.1.0"
     exon            738..861
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /inference="alignment:Splign:2.1.0"
     exon            862..989
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1087
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1185
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..4796
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4772..4777
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /note="hexamer: AATAAA"
     polyA_site      4796
                     /gene="DISP1"
                     /gene_synonym="DISPA"
                     /note="major polyA site"
ORIGIN      
        1 agcccggctc cgggccagca tccgagagcc cggactggag tctgtcctgc cgctctgtgg
       61 agctgcgcct gccaactcat tgctttctgc tgtgctgtga tcctgcagtc agttgccgct
      121 gttgctactg caatcatttg caccaaactg agccagagaa gttccctctt ttaacataaa
      181 gagtcaagaa attggagcat ggctatgagc aatggaaaca atgattttgt ggttctgagc
      241 aacagcagca tcgcaaccag tgctgctaac ccgagtcccc tcaccccctg tgatggagac
      301 catgcagccc agcagctcac acccaaagaa gcaacaagaa caaaagtgag tccaaatgga
      361 tgcctgcaac ttaatggcac ggtcaaatca tcctttctgc ctttagacaa ccaaagaatg
      421 cctcagatgt taccccaatg ctgccatcct tgcccatacc atcacccttt gactagccat
      481 agcagtcacc aagagtgcca tcccgaggct ggccctgcag caccctctgc tttggcctcg
      541 tgttgcatgc agccacactc cgagtattct gcatctcttt gtccaaatca ttcacctgtg
      601 tatcagacta cgtgctgtct tcagccctct ccatccttct gcctgcatca tccgtggcct
      661 gaccattttc agcatcagcc tgtgcaacag cacatagcca acataagacc atccagacct
      721 ttcaagttgc caaaaagtta tgcagccctg atagccgact ggccggtggt ggtcttgggc
      781 atgtgcacca tgttcatcgt agtctgtgcc ttggttggag tattagtgcc agagctccct
      841 gacttctctg atccattgct gggttttgaa ccaagaggaa cagcaatagg ccagagattg
      901 gtcacatgga ataatatggt gaaaaataca ggatacaaag caacattagc aaattatccc
      961 tttaaatatg cagatgaaca agccaaaagc catcgggatg atagatggtc agatgatcat
     1021 tatgaaagag agaaaagaga agttgactgg aacttccaca aggacagctt tttctgcgac
     1081 gttccaagtg accgatattc cagagtggta tttacttcat ctggagggga gacattatgg
     1141 aatttacctg caattaaatc aatgtgcaat gtagataatt ccaggatcag atctcatccc
     1201 cagtttggtg atctctgcca gaggaccact gctgcctcct gctgccccag ctggacactg
     1261 ggaaactaca tcgccattct gaacaataga tcgtcctgtc agaaaatagt tgagcgagac
     1321 gtttctcata ccttgaagct gcttcggact tgtgccaaac actaccaaaa tggcactctg
     1381 gggccagact gctgggacat ggcagccaga agaaaggacc agctcaagtg caccaatgtg
     1441 ccacgcaaat gtaccaagta caatgctgtg taccagatcc tccattactt ggtggacaaa
     1501 gactttatga ccccaaagac ggctgactat gccacgccag ctttaaaata cagcatgctc
     1561 ttctctccca cagagaaagg ggagagcatg atgaacattt acttggacaa ctttgaaaac
     1621 tggaactctt ctgacggcgt gactaccatc accgggattg agtttggtat caaacacagt
     1681 ttgtttcagg attatcttct aatggatact gtgtatcctg ccatagccat tgtgattgtc
     1741 cttttagtta tgtgtgtcta caccaagtcc atgtttatca ctctgatgac aatgtttgca
     1801 ataatcagtt ctttgattgt ttcctatttt ctctatcgtg tagtatttca cttcgaattt
     1861 tttcctttta tgaacctcac tgccctcatt attttggttg gaattggagc agatgatgct
     1921 tttgtcctgt gtgatgtttg gaactacaca aaatttgata agcctcatgc cgaaacctca
     1981 gaaacagtaa gcatcacctt gcagcacgct gccctctcca tgttcgtcac cagttttacc
     2041 actgctgctg ccttttatgc taactatgtt agcaacatta cagcaatccg atgctttggg
     2101 gtttatgcgg ggacagctat attggtgaat tacgttttga tggtcacatg gcttccagca
     2161 gttgttgtgc tgcatgagcg gtatcttctt aatatattca cttgcttcaa aaagccccag
     2221 cagcaaatat atgataacaa aagctgctgg acagtggctt gccagaagtg ccacaaagta
     2281 ctctttgcca tttcagaagc atctcgaatt tttttcgaaa aagtattgcc atgcattgtc
     2341 attaagtttc gctacctttg gctgttttgg ttccttgcct taactgtagg tggggcctac
     2401 attgtatgta taaatccaaa gatgaaactg ccctcactgg agttatccga gttccaggtg
     2461 ttccggtcgt cccatccttt tgagcgttat gatgctgaat acaaaaagct tttcatgttt
     2521 gaacgtgttc accatggcga ggagctccac atgcccatca cagtaatctg gggcgtgtcc
     2581 ccagaagaca atggcaaccc actaaatccc aagagtaaag ggaagttgac attagatagc
     2641 agttttaaca tcgccagccc agcttcccag gcctggattt tgcacttctg tcaaaaactg
     2701 agaaaccaaa cattctttta ccagactgat gaacaggact tcaccagctg cttcattgag
     2761 acattcaaac agtggatgga aaaccaggac tgtgatgagc ctgccctgta cccatgctgc
     2821 agccactgga gcttccccta caagcaagag atttttgaac tgtgcatcaa gagagctatc
     2881 atggagctgg aaaggagtac agggtaccat ttggatagca aaaccccagg gccgaggttt
     2941 gatatcaatg atactatcag ggcagtggtg ttagagttcc agagtaccta cctcttcaca
     3001 ctggcttatg aaaagatgca tcagttttat aaagaggtgg actcgtggat atccagtgag
     3061 ctgagttcgg cccctgaagg cctcagcaat ggttggtttg tcagcaatct ggagttctat
     3121 gacctccagg atagcctctc cgatggcacc ctcattgcca tggggctgtc agttgctgtt
     3181 gcatttagcg tgatgctgct gacaacttgg aacatcatca taagccttta tgccatcatt
     3241 tcaattgctg gaacgatatt tgtcactgtt ggttctcttg tcctgctggg ctgggagctc
     3301 aatgtgttgg aatctgtcac catttcggtt gccgtcggct tgtctgtaga ctttgccgtc
     3361 cattatgggg ttgcctaccg cttggctcca gatcccgacc gagaaggcaa agtgatcttc
     3421 tctctgagtc gcgtgggctc tgcgatggcc atggctgccc tgaccacctt cgtggcaggg
     3481 gccatgatga tgccctccac agttctagct tacacccagc tgggcacctt catgatgctc
     3541 atcatgtgta tcagttgggc tttcgccacc ttctttttcc agtgcatgtg ccggtgcctt
     3601 ggaccacagg gtacctgtgg tcagattcct ttacctaaaa aactacagtg cagtgccttt
     3661 tcccatgcct tgtctacaag tcccagtgac aagggacaaa gcaaaacaca taccataaat
     3721 gcttatcatt tagatcccag gggcccaaaa tctgaactgg agcatgagtt ttatgaatta
     3781 gaacctctgg cttcccacag ctgcactgcc cctgagaaga ccacttatga agagacccac
     3841 atctgctctg aatttttcaa cagccaagca aagaatttag ggatgcctgt gcatgcagct
     3901 tacaacagtg aactcagcaa aagcactgaa agtgacgctg gctctgcctt gttacagccc
     3961 cctcttgaac agcataccgt gtgtcacttc ttctctctga atcagagatg tagctgccca
     4021 gatgcctaca aacacttgaa ctatggccca cactcttgcc agcagatggg ggactgcttg
     4081 tgccaccagt gctctcctac cactagcagc tttgtccaga tccaaaacgg cgtggcacct
     4141 ctgaaggcca cacaccaagc tgtcgagggc tttgtgcacc ccatcacgca catccaccac
     4201 tgtccctgcc tgcagggcag agtaaagcca gccggaatgc agaattctct gcctaggaat
     4261 tttttcctcc acccagtgca gcacattcag gcccaagaaa aaattggcaa gaccaatgta
     4321 cacagtcttc agaggagcat agaagagcat cttccaaaga tggcagagcc atcgtcattt
     4381 gtctgcagaa gcactggatc gttactcaaa acgtgttgcg accccgagaa taaacaaagg
     4441 gaactctgta aaaatagaga cgtgagcaat ctggagagca gtggagggac tgaaaacaag
     4501 gcaggaggga aagtggagct gagcttgtca cagacggatg caagtgtgaa ctcagaacat
     4561 ttcaatcaga atgaaccaaa agtcctattt aatcatttaa tgggggaggc tggttgtagg
     4621 tcttgcccaa ataattcaca aagttgtggc agaattgtga gagtgaagtg caattctgtg
     4681 gactgtcaaa tgccaaacat ggaagccaat gtgcctgctg tattaacaca ctcggaactt
     4741 tctggtgaaa gtttgttaat aaaaacacta taataaatgc agcattcaat tcagaa
//
