LOCUS       NM_003310               1657 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens EARP complex and GARP complex interacting protein 1
            (EIPR1), transcript variant 2, mRNA.
ACCESSION   NM_003310
VERSION     NM_003310.5
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 1657)
  AUTHORS   Li,Q., Wang,Z., Zong,L., Ye,L., Ye,J., Ou,H., Jiang,T., Guo,B.,
            Yang,Q., Liang,W., Zhang,J., Long,Y., Zheng,X., Hou,Y., Wu,F.,
            Zhou,L., Li,S., Huang,X. and Zhao,C.
  TITLE     Allele-specific DNA methylation maps in monozygotic twins
            discordant for psychiatric disorders reveal that disease-associated
            switching at the EIPR1 regulatory loci modulates neural function
  JOURNAL   Mol Psychiatry 26 (11), 6630-6642 (2021)
   PUBMED   33963283
  REMARK    GeneRIF: Allele-specific DNA methylation maps in monozygotic twins
            discordant for psychiatric disorders reveal that disease-associated
            switching at the EIPR1 regulatory loci modulates neural function.
REFERENCE   2  (bases 1 to 1657)
  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   3  (bases 1 to 1657)
  AUTHORS   Gershlick,D.C., Schindler,C., Chen,Y. and Bonifacino,J.S.
  TITLE     TSSC1 is novel component of the endosomal retrieval machinery
  JOURNAL   Mol Biol Cell 27 (18), 2867-2878 (2016)
   PUBMED   27440922
  REMARK    GeneRIF: Fluorescence recovery after photobleaching shows that
            TSSC1 is required for efficient recruitment of GARP to the TGN.
            These studies thus demonstrate that TSSC1 plays a critical role in
            endosomal retrieval pathways as a regulator of both GARP and EARP
            function.
REFERENCE   4  (bases 1 to 1657)
  AUTHORS   Wang,D.C., Wang,H.F. and Yuan,Z.N.
  TITLE     Runx2 induces bone osteolysis by transcriptional suppression of
            TSSC1
  JOURNAL   Biochem Biophys Res Commun 438 (4), 635-639 (2013)
   PUBMED   23933319
  REMARK    GeneRIF: TSSC1 inhibits breast cancer cell invasion. Subsequently,
            TSSC1 is confirmed as a target of Runx2 and is negatively regulated
            by Runx2.
REFERENCE   5  (bases 1 to 1657)
  AUTHORS   Scelfo,R., Sabbioni,S., Barbanti-Brodano,G. and Negrini,M.
  TITLE     Subchromosomal assignment1 of the TSSC1 gene to human chromosome
            band 11p15.5 near the HBB gene cluster
  JOURNAL   Cytogenet Cell Genet 83 (1-2), 52-53 (1998)
   PUBMED   9925925
REFERENCE   6  (bases 1 to 1657)
  AUTHORS   Hu,R.J., Lee,M.P., Connors,T.D., Johnson,L.A., Burn,T.C., Su,K.,
            Landes,G.M. and Feinberg,A.P.
  TITLE     A 2.5-Mb transcript map of a tumor-suppressing subchromosomal
            transferable fragment from 11p15.5, and isolation and sequence
            analysis of three novel genes
  JOURNAL   Genomics 46 (1), 9-17 (1997)
   PUBMED   9403053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY008956.1, BC002485.2, AK026522.1 and AC019118.7.
            
            On Feb 27, 2020 this sequence version replaced NM_003310.4.
            
            Summary: This gene has been reported in PMID 9403053 as one of
            several tumor-suppressing subtransferable fragments located in the
            imprinted gene domain of 11p15.5, an important tumor-suppressor
            gene region. Alterations in this region have been associated with
            the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma,
            adrenocortical carcinoma, and lung, ovarian, and breast cancer.
            Alignment of this gene to genomic sequence data suggests that this
            gene resides on chromosome 2 rather than chromosome 11. [provided
            by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The encoded isoform (2) is shorter than
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK222652.1, BC002485.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382125.9/ ENSP00000371559.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                HY008956.1         116-143
            29-1354             BC002485.2         1-1326
            1355-1361           AK026522.1         1360-1366
            1362-1596           BC002485.2         1334-1568
            1597-1657           AC019118.7         94015-94075         c
FEATURES             Location/Qualifiers
     source          1..1657
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.3"
     gene            1..1657
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /note="EARP complex and GARP complex interacting protein
                     1"
                     /db_xref="GeneID:7260"
                     /db_xref="HGNC:HGNC:12383"
                     /db_xref="MIM:608998"
     exon            1..171
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             130..1293
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein TSSC1; tumor-suppressing STF cDNA 1 protein;
                     tumor-suppressing subchromosomal transferable fragment
                     candidate gene 1 protein; EARP-interacting protein;
                     tumor-suppressing subtransferable fragment candidate gene
                     1; endosome-associated recycling protein-interacting
                     protein; tumor suppressing subtransferable candidate 1;
                     Golgi-associated retrograde protein-interacting protein;
                     EARP and GARP complex-interacting protein 1"
                     /codon_start=1
                     /product="EARP and GARP complex-interacting protein 1
                     isoform 2"
                     /protein_id="NP_003301.1"
                     /db_xref="CCDS:CCDS1651.1"
                     /db_xref="GeneID:7260"
                     /db_xref="HGNC:HGNC:12383"
                     /db_xref="MIM:608998"
                     /translation="MEDDAPVIYGLEFQARALTPQTAETDAIRFLVGTQSLKYDNQIH
                     IIDFDDENNIINKNVLLHQAGEIWHISASPADRGVLTTCYNRTSDSKVLTCAAVWRMP
                     KELESGSHESPDDSSSTAQTLELLCHLDNTAHGNMACVVWEPMGDGKKIISLADNHIL
                     LWDLQESSSQAVLASSASLEGKGQLKFTSGRWSPHHNCTQVATANDTTLRGWDTRSMS
                     QIYCIENAHGQLVRDLDFNPNKQYYLASCGDDCKVKFWDTRNVTEPVKTLEEHSHWVW
                     NVRYNHSHDQLVLTGSSDSRVILSNMVSISSEPFGHLVDDDDISDQEDHRSEEKSKEP
                     LQDNVIATYEEHEDSVYAVDWSSADPWLFASLSYDGRLVINRVPRALKYHILL"
     exon            172..255
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /inference="alignment:Splign:2.1.0"
     exon            256..388
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /inference="alignment:Splign:2.1.0"
     exon            389..545
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /inference="alignment:Splign:2.1.0"
     exon            546..645
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /inference="alignment:Splign:2.1.0"
     exon            646..782
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /inference="alignment:Splign:2.1.0"
     exon            783..950
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1118
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1657
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1641..1646
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /note="hexamer: AATAAA"
     polyA_site      1657
                     /gene="EIPR1"
                     /gene_synonym="EIPR-1; TSSC1"
                     /note="major polyA site"
ORIGIN      
        1 agtttggagt cgtttgctgc ggggagggaa tgaatgggcg ctgggaacac gcccgcgagg
       61 tggggacgcg ccggccgtag cgaggtcctt agcgtgtgag tggccggggt cgggtcgctt
      121 ccccgcagca tggaggacga tgcaccagtg atctacgggc tggagttcca ggcacgtgcc
      181 ttaacacctc aaactgcaga aacagatgcc attcggtttt tggttgggac gcagtctctt
      241 aaatatgata atcagatcca tatcatagat tttgacgatg aaaacaacat tataaataaa
      301 aatgtcctcc tccatcaagc gggtgaaatc tggcatatta gcgctagccc tgcagacaga
      361 ggtgtgctga cgacctgcta caacagaact tcagacagca aagtcctgac atgtgcagcc
      421 gtgtggagga tgccgaagga attggaatca ggcagccacg agtcccctga tgattcatcc
      481 agcactgcac agaccctgga gctgctctgt caccttgaca acacagccca tggcaacatg
      541 gcctgtgtcg tgtgggagcc aatgggagat gggaagaaaa tcatttcctt ggctgataac
      601 catatcctgc tgtgggattt acaggaaagc tcgagccagg ctgtgctggc cagctcagcg
      661 tccctggaag ggaagggaca actgaagttc acctcaggac ggtggagccc acatcataac
      721 tgcacccagg tggccacagc gaacgacacc accctccgtg gctgggacac ccggagcatg
      781 agccagatct actgcataga gaatgcccac ggacagctgg tgcgggacct tgactttaat
      841 cccaataagc agtactactt ggccagctgc ggagacgact gtaaggtgaa gttctgggac
      901 acccgaaatg tcaccgaacc cgtgaagacc ctggaggagc actcccactg ggtgtggaac
      961 gtccgctaca accactctca tgaccagctg gtcctcacgg gcagcagtga cagcagagtc
     1021 atcctttcca acatggtgtc catctcgtcg gagcccttcg gccacttggt agacgacgat
     1081 gacatcagtg accaggagga ccaccgttct gaagagaaga gcaaggagcc cctgcaggac
     1141 aacgtgatcg ccacctacga ggagcacgag gacagcgtct atgccgtgga ctggtcctcg
     1201 gctgacccgt ggctgtttgc ctccctgagc tatgacggga ggctcgtgat caacagggtg
     1261 cccagggccc tgaagtacca catcctgcta tgactcccgg gcctgggtta tccaggtccc
     1321 attgagtggt tttcctcttg gcagattctc aaacagtcgc agctctttgg aggtgactcg
     1381 tgttccaggt ggatccctct ctgggagagc cgctgttccc ttcctgtagc agcagcattt
     1441 atgaatgggg tgaatggggc tattgtcgac ggcacagcta atgcccgaac ccagcccctg
     1501 tcggcagaga cagagcccca cattattatg tgaataacaa tgttttctgt tttaagggtg
     1561 tcaggagttt cgctttttaa aaaaatgtct gttcctgcaa tagtaactct tctttctctt
     1621 gagagtaaaa aatgaaataa aataaatcca cgctgca
//
