LOCUS       NM_005716               1921 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens GIPC PDZ domain containing family member 1 (GIPC1),
            transcript variant 1, mRNA.
ACCESSION   NM_005716
VERSION     NM_005716.4
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 1921)
  AUTHORS   Gu,X., Jiao,K., Yue,D., Wang,X., Qiao,K., Gao,M., Lin,J., Sun,C.,
            Zhao,C., Zhu,W. and Xi,J.
  TITLE     Intrafamilial phenotypic heterogeneity in GIPC1-related
            oculopharyngodistal myopathy type 2: a case report
  JOURNAL   Neuromuscul Disord 33 (9), 93-97 (2023)
   PUBMED   37550168
  REMARK    GeneRIF: Intrafamilial phenotypic heterogeneity in GIPC1-related
            oculopharyngodistal myopathy type 2: a case report.
REFERENCE   2  (bases 1 to 1921)
  AUTHORS   Fan,Y., Shen,S., Yang,J., Yao,D., Li,M., Mao,C., Wang,Y., Hao,X.,
            Ma,D., Li,J., Shi,J., Guo,M., Li,S., Yuan,Y., Liu,F., Yang,Z.,
            Zhang,S., Hu,Z., Fan,L., Liu,H., Zhang,C., Wang,Y., Wang,Q.,
            Zheng,H., He,Y., Song,B., Xu,Y. and Shi,C.
  TITLE     GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders
  JOURNAL   Ann Neurol 91 (5), 704-715 (2022)
   PUBMED   35152460
  REMARK    GeneRIF: GIPC1 CGG Repeat Expansion Is Associated with Movement
            Disorders.
REFERENCE   3  (bases 1 to 1921)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 1921)
  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 1921)
  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 1921)
  AUTHORS   Wang,L.H., Kalb,R.G. and Strittmatter,S.M.
  TITLE     A PDZ protein regulates the distribution of the transmembrane
            semaphorin, M-SemF
  JOURNAL   J Biol Chem 274 (20), 14137-14146 (1999)
   PUBMED   10318831
REFERENCE   7  (bases 1 to 1921)
  AUTHORS   Bunn,R.C., Jensen,M.A. and Reed,B.C.
  TITLE     Protein interactions with the glucose transporter binding protein
            GLUT1CBP that provide a link between GLUT1 and the cytoskeleton
  JOURNAL   Mol Biol Cell 10 (4), 819-832 (1999)
   PUBMED   10198040
REFERENCE   8  (bases 1 to 1921)
  AUTHORS   De Vries,L., Lou,X., Zhao,G., Zheng,B. and Farquhar,M.G.
  TITLE     GIPC, a PDZ domain containing protein, interacts specifically with
            the C terminus of RGS-GAIP
  JOURNAL   Proc Natl Acad Sci U S A 95 (21), 12340-12345 (1998)
   PUBMED   9770488
REFERENCE   9  (bases 1 to 1921)
  AUTHORS   Rousset,R., Fabre,S., Desbois,C., Bantignies,F. and Jalinot,P.
  TITLE     The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction
            with the PDZ domain of cellular proteins
  JOURNAL   Oncogene 16 (5), 643-654 (1998)
   PUBMED   9482110
REFERENCE   10 (bases 1 to 1921)
  AUTHORS   De Vries,L., Elenko,E., Hubler,L., Jones,T.L. and Farquhar,M.G.
  TITLE     GAIP is membrane-anchored by palmitoylation and interacts with the
            activated (GTP-bound) form of G alpha i subunits
  JOURNAL   Proc Natl Acad Sci U S A 93 (26), 15203-15208 (1996)
   PUBMED   8986788
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012318.7 and BC000410.2.
            
            On Nov 22, 2018 this sequence version replaced NM_005716.3.
            
            Summary: GIPC1 is a scaffolding protein that regulates cell surface
            receptor expression and trafficking (Lee et al., 2008 [PubMed
            18775991]).[supplied by OMIM, Apr 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1, 3 and 5
            encode the same isoform.
            
            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.
            
            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 :: SRR3476690.220035.1,
                                           SRR3476690.263788.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393033.9/ ENSP00000376753.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-86                AC012318.7         11669-11754         c
            87-1921             BC000410.2         81-1915
FEATURES             Location/Qualifiers
     source          1..1921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..1921
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /note="GIPC PDZ domain containing family member 1"
                     /db_xref="GeneID:10755"
                     /db_xref="HGNC:HGNC:1226"
                     /db_xref="MIM:605072"
     exon            1..91
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /inference="alignment:Splign:2.1.0"
     exon            92..147
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /inference="alignment:Splign:2.1.0"
     exon            148..235
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /inference="alignment:Splign:2.1.0"
     exon            236..553
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             266..1267
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /note="isoform 1 is encoded by transcript variant 1; GLUT1
                     C-terminal binding protein; IGF-1 receptor interacting
                     protein 1; regulator of G-protein signalling 19
                     interacting protein 1; PDZ domain-containing protein
                     GIPC1; tax interaction protein 2; RGS19-interacting
                     protein 1; RGS-GAIP-interacting protein; GAIP
                     C-terminus-interacting protein"
                     /codon_start=1
                     /product="PDZ domain-containing protein GIPC1 isoform 1"
                     /protein_id="NP_005707.1"
                     /db_xref="CCDS:CCDS12310.1"
                     /db_xref="GeneID:10755"
                     /db_xref="HGNC:HGNC:1226"
                     /db_xref="MIM:605072"
                     /translation="MPLGLGRRKKAPPLVENEEAEPGRGGLGVGEPGPLGGGGSGGPQ
                     MGLPPPPPALRPRLVFHTQLAHGSPTGRIEGFTNVKELYGKIAEAFRLPTAEVMFCTL
                     NTHKVDMDKLLGGQIGLEDFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKRI
                     KEGSVIDHIHLISVGDMIEAINGQSLLGCRHYEVARLLKELPRGRTFTLKLTEPRKAF
                     DMISQRSAGGRPGSGPQLGTGRGTLRLRSRGPATVEDLPSAFEEKAIEKVDDLLESYM
                     GIRDTELAATMVELGKDKRNPDELAEALDERLGDFAFPDEFVFDVWGAIGDAKVGRY"
     exon            554..739
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /inference="alignment:Splign:2.1.0"
     exon            740..920
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1033
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1115
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1921
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1900..1905
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /note="hexamer: CATAAA"
     polyA_site      1921
                     /gene="GIPC1"
                     /gene_synonym="C19orf3; GIPC; GLUT1CBP; Hs.6454; IIP-1;
                     NIP; OPDM2; RGS19IP1; SEMCAP; SYNECTIIN; SYNECTIN; TIP-2"
                     /note="major polyA site"
ORIGIN      
        1 ggtctggagt ttgcggaggg ccgagccggg tgcgcacggg gaggcggagg cagcggcggc
       61 ggcggcggcg gcggcggcgg cggcggagca gatgaagaaa ctgaggccct gtgatgtgaa
      121 gtgacttgcc ccccagccac acagctggac cattctggct gctgtctgga caagaagtcg
      181 tagggggtga gggtggaagc tgggaaaccc acaggaggca accacactag tttagatctt
      241 ctggtgaccc cacttctcgc tgctcatgcc gctgggactg gggcggcgga aaaaggcgcc
      301 ccctctagtg gaaaatgagg aggctgagcc aggccgtgga gggctgggcg tgggggagcc
      361 agggcctctg ggcggaggtg ggtcgggggg cccccaaatg ggcttgcccc cccctccccc
      421 agccctgcgg ccccgcctcg tgttccacac ccagctggcc catggcagtc ccactggccg
      481 catcgagggc ttcaccaacg tcaaggagct gtatggcaag atcgccgagg ccttccgcct
      541 gccaactgcc gaggtgatgt tctgcaccct gaacacccac aaagtggaca tggacaagct
      601 cctggggggc cagatcgggc tggaggactt catcttcgcc cacgtgaagg ggcagcgcaa
      661 ggaggtggag gtgttcaagt cggaggatgc actcgggctc accatcacgg acaacggggc
      721 tggctacgcc ttcatcaagc gcatcaagga gggcagcgtg atcgaccaca tccacctcat
      781 cagcgtgggc gacatgatcg aggccattaa cgggcagagc ctgctgggct gccggcacta
      841 cgaggtggcc cggctgctca aggagctgcc ccgaggccgt accttcacgc tgaagctcac
      901 ggagcctcgc aaggccttcg acatgatcag ccagcgttca gcgggtggcc gccctggctc
      961 tggcccacaa ctgggcactg gccgagggac cctgcggctc cgatcccggg gccccgccac
     1021 ggtggaggat ctgccctctg cctttgaaga gaaggccatt gagaaggtgg atgacctgct
     1081 ggagagttac atgggtatca gggacacgga gctggcggcc accatggtgg agctgggaaa
     1141 ggacaaaagg aacccggatg agctggccga ggccctggac gaacggctgg gtgactttgc
     1201 cttccctgac gagttcgtct ttgacgtctg gggcgccatt ggggacgcca aggtcggccg
     1261 ctactaggac tgcccccgga ccctgcgatg atgacccggg cgcaacctgg tgggggcccc
     1321 cagcagggac actgacgtca ggacccgagc ctccagcctg agcctagctc agcagcccaa
     1381 ggacgatggt gaggggaggt ggggccaggc cccctgcccc gctccaatcg gtaccatccc
     1441 ctccctggtt cccagtctgg ccggggtccc cggcccccct gtgccctgtt ccccacctac
     1501 ctcagctggg tcaggcacag ggaggggagg gatcagccaa attgggcggc cacccccgcc
     1561 tccaccactt tccaccatca gctgccaaac tggtccctct gtctccctgg ggccttgggt
     1621 tctgtttggg ggtcatgacc ttcctagttt cctgacgcag ggaatacagg ggagagggtt
     1681 gtccttcccc ccagcaaatg caataatgcc ctcacccctc ctgagaggag ccccctccct
     1741 gtggagcctg ttacctccgc atttgacacg agtctgctgt gaaccccgca acctcctccc
     1801 cacctcccat ctctccttcc aggcccatcc ctggcccaga gcaggaggga gggagggacg
     1861 atggcggtgg gtttttgtat ctgaatttgc tgtcttgaac ataaagaatc tatctgctgt
     1921 t
//
