LOCUS       NM_016433               2407 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens glycolipid transfer protein (GLTP), mRNA.
ACCESSION   NM_016433
VERSION     NM_016433.4
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 2407)
  AUTHORS   Zhang,C., Chen,Z., Zhang,D., Wang,X., Qiu,M. and Tan,Z.
  TITLE     Role of Gltp in Maturation of Oligodendrocytes Under the Regulation
            of Nkx2.2
  JOURNAL   Mol Neurobiol 60 (9), 4897-4908 (2023)
   PUBMED   37191854
  REMARK    GeneRIF: Role of Gltp in Maturation of Oligodendrocytes Under the
            Regulation of Nkx2.2.
REFERENCE   2  (bases 1 to 2407)
  AUTHORS   Nurmi,H., Backman,A.P.E., Halin,J., Lonnfors,M., Blom,T.,
            Roos-Mattjus,P. and Mattjus,P.
  TITLE     Glycolipid transfer protein knockout disrupts vesicle trafficking
            to the plasma membrane
  JOURNAL   J Biol Chem 299 (4), 104607 (2023)
   PUBMED   36924944
  REMARK    GeneRIF: Glycolipid transfer protein knockout disrupts vesicle
            trafficking to the plasma membrane.
REFERENCE   3  (bases 1 to 2407)
  AUTHORS   Mishra,S.K., Gao,Y.G., Zou,X., Stephenson,D.J., Malinina,L.,
            Hinchcliffe,E.H., Chalfant,C.E. and Brown,R.E.
  TITLE     Emerging roles for human glycolipid transfer protein superfamily
            members in the regulation of autophagy, inflammation, and cell
            death
  JOURNAL   Prog Lipid Res 78, 101031 (2020)
   PUBMED   32339554
  REMARK    GeneRIF: Emerging roles for human glycolipid transfer protein
            superfamily members in the regulation of autophagy, inflammation,
            and cell death.
            Review article
REFERENCE   4  (bases 1 to 2407)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2407)
  AUTHORS   Ochoa-Lizarralde,B., Gao,Y.G., Popov,A.N., Samygina,V.R., Zhai,X.,
            Mishra,S.K., Boldyrev,I.A., Molotkovsky,J.G., Simanshu,D.K.,
            Patel,D.J., Brown,R.E. and Malinina,L.
  TITLE     Structural analyses of 4-phosphate adaptor protein 2 yield
            mechanistic insights into sphingolipid recognition by the
            glycolipid transfer protein family
  JOURNAL   J Biol Chem 293 (43), 16709-16723 (2018)
   PUBMED   30206120
  REMARK    GeneRIF: Four bulky, conserved hydrophobic residues involved in
            'sensor-like' interactions with lipid chains in protein hydrophobic
            pockets and FF motifs in GLTP and FAPP2.
REFERENCE   6  (bases 1 to 2407)
  AUTHORS   Rao,C.S., Lin,X., Pike,H.M., Molotkovsky,J.G. and Brown,R.E.
  TITLE     Glycolipid transfer protein mediated transfer of glycosphingolipids
            between membranes: a model for action based on kinetic and
            thermodynamic analyses
  JOURNAL   Biochemistry 43 (43), 13805-13815 (2004)
   PUBMED   15504043
  REMARK    GeneRIF: The rate-limiting step for glycolipid transfer protein
            (GLTP) action appears to be the surface processes leading to the
            GLTP-glycosphingolipid complex formation and release associated
            with a shuttle/carrier mode of action.
REFERENCE   7  (bases 1 to 2407)
  AUTHORS   Malinina,L., Malakhova,M.L., Teplov,A., Brown,R.E. and Patel,D.J.
  TITLE     Structural basis for glycosphingolipid transfer specificity
  JOURNAL   Nature 430 (7003), 1048-1053 (2004)
   PUBMED   15329726
  REMARK    GeneRIF: crystal structures of apo-GLTP (1.65 A resolution) and
            lactosylceramide-bound (1.95 A) GLTP, in which the bound
            glycosphingolipid is sandwiched, after adaptive recognition, within
            a previously unknown two-layer all-alpha-helical topology
REFERENCE   8  (bases 1 to 2407)
  AUTHORS   Li,X.M., Malakhova,M.L., Lin,X., Pike,H.M., Chung,T.,
            Molotkovsky,J.G. and Brown,R.E.
  TITLE     Human glycolipid transfer protein: probing conformation using
            fluorescence spectroscopy
  JOURNAL   Biochemistry 43 (31), 10285-10294 (2004)
   PUBMED   15287756
  REMARK    GeneRIF: First insights into human GLTP structural dynamics by
            fluorescence spectroscopy, including global conformational changes
            that accompany GLTP folding into an active conformational state.
REFERENCE   9  (bases 1 to 2407)
  AUTHORS   Lin,X., Mattjus,P., Pike,H.M., Windebank,A.J. and Brown,R.E.
  TITLE     Cloning and expression of glycolipid transfer protein from bovine
            and porcine brain
  JOURNAL   J Biol Chem 275 (7), 5104-5110 (2000)
   PUBMED   10671554
  REMARK    GeneRIF: This paper describes the first cloning of the cDNAs
            encoding the glycolipid transfer proteins of bovine and porcine
            brain.  The cDNAs are highly homologous to the human cDNA
            (AF209704).
REFERENCE   10 (bases 1 to 2407)
  AUTHORS   Abe,A.
  TITLE     Primary structure of glycolipid transfer protein from pig brain
  JOURNAL   J Biol Chem 265 (17), 9634-9637 (1990)
   PUBMED   2190982
  REMARK    GeneRIF: The paper describes the complete primary amino acid
            sequence of glycolipid transfer protein (GLTP) from porcine brain.
            The sequence was determined by Edman degradation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007834.40, BC009932.2,
            AF209704.1, AY372530.1, BQ227117.1 and CA310913.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016433.3.
            
            Summary: The protein encoded by this gene is similar to bovine and
            porcine proteins which accelerate transfer of certain
            glycosphingolipids and glyceroglycolipids between membranes. It is
            thought to be a cytoplasmic protein. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR3476690.644161.1,
                                           SRR3476690.808760.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318348.9/ ENSP00000315263.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                AC007834.40        19365-19417
            54-1083             BC009932.2         1-1030
            1084-1156           AF209704.1         923-995
            1157-1323           BC009932.2         1104-1270
            1324-1375           AF209704.1         1161-1212
            1376-1386           AY372530.1         1209-1219
            1387-1919           BQ227117.1         293-825
            1920-2407           CA310913.1         18-505              c
FEATURES             Location/Qualifiers
     source          1..2407
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..2407
                     /gene="GLTP"
                     /note="glycolipid transfer protein"
                     /db_xref="GeneID:51228"
                     /db_xref="HGNC:HGNC:24867"
                     /db_xref="MIM:608949"
     exon            1..270
                     /gene="GLTP"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..797
                     /gene="GLTP"
                     /codon_start=1
                     /product="glycolipid transfer protein"
                     /protein_id="NP_057517.1"
                     /db_xref="CCDS:CCDS9136.1"
                     /db_xref="GeneID:51228"
                     /db_xref="HGNC:HGNC:24867"
                     /db_xref="MIM:608949"
                     /translation="MALLAEHLLKPLPADKQIETGPFLEAVSHLPPFFDCLGSPVFTP
                     IKADISGNITKIKAVYDTNPAKFRTLQNILEVEKEMYGAEWPKVGATLALMWLKRGLR
                     FIQVFLQSICDGERDENHPNLIRVNATKAYEMALKKYHGWIVQKIFQAALYAAPYKSD
                     FLKALSKGQNVTEEECLEKIRLFLVNYTATIDVIYEMYTQMNAELNYKV"
     exon            271..329
                     /gene="GLTP"
                     /inference="alignment:Splign:2.1.0"
     exon            330..463
                     /gene="GLTP"
                     /inference="alignment:Splign:2.1.0"
     exon            464..614
                     /gene="GLTP"
                     /inference="alignment:Splign:2.1.0"
     exon            615..2407
                     /gene="GLTP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2385..2390
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLTP"
                     /note="hexamer: AATAAA"
     polyA_site      2407
                     /gene="GLTP"
                     /note="major polyA site"
ORIGIN      
        1 gagcgctcgg ctacgagggc gccgtgcggg cggaagtggc gacgctggcg tccccggagc
       61 ctgcggcggg cggctgtgac ggccccggcg ctgacggcgg cggccggggg ggcggtgtcg
      121 acgcccgcgg cgccggctgg ggcatcaccg cgggcctcga ccccgaaatg gcgctgctgg
      181 ccgaacactt gctgaagccg ctgcccgcgg acaagcagat cgagaccggg cccttcctcg
      241 aggcggtgtc ccacctgccg cccttcttcg attgccttgg gtccccagtg tttactccca
      301 tcaaggcaga cataagcggc aacatcacga aaatcaaagc tgtgtacgac accaacccag
      361 ccaagttccg gaccctgcag aacatcctgg aggtggagaa agaaatgtat ggagcagagt
      421 ggcccaaagt aggggccaca ctggcgctga tgtggctgaa aagaggcctc cgcttcatcc
      481 aggtcttcct ccagagcatc tgcgacgggg agcgggacga gaaccacccc aacctcatcc
      541 gtgtcaacgc caccaaggcc tacgagatgg ccctcaagaa gtaccatggc tggatcgtgc
      601 agaagatctt ccaggcagca ctgtacgcag caccctataa gtctgacttc ctgaaagcgc
      661 tctccaaggg gcagaatgtt acggaggagg agtgcctgga gaagatccgc ctcttcctag
      721 tcaactacac ggcgaccatc gatgtcatct acgagatgta cacccagatg aacgctgagc
      781 ttaactacaa ggtgtaggca tgcccactgc tggacacgtc cccgactcgt ggccacatgg
      841 agaaacaggc aaaccagaat cactgtgaat caagtcggtg aactgcccct ggcctgtgtc
      901 ccccagagca gcccagggtc ctgccagagt ctgcagggga cagccctcgt tttttaagtc
      961 tttttttttt ttttttttgg tctattctaa aggaccagta aataatgatc ttacttccaa
     1021 atctccttgg aatttcacga cagcacagac tgactttata ccttcatttc agcgtggtaa
     1081 aaaccgatta acacttctaa tgagtcaagt cctagggttt tttggttttg ttttgttgcc
     1141 aacgaggaac acagctctgg gggaatggtg tcatccacct cgctttaaaa ataagcacat
     1201 gatggctggg caccgtggct cacgcctgta atcccagcac tttgggaggc tgaggcgggt
     1261 ggatcacctg aggtcgggag tttgagacca gcctggccaa catggtgaaa ccccatcgct
     1321 actaaaaata taaaaaatta gctgggcatg gtggcgcacg cctgtagttc cagctactca
     1381 ggaggctgag gcaggagaat cgcttgaacc cgggaggtgg aggttgcagt gagctgagat
     1441 cgcaccattg cactccagcc tgggcaacaa gagcgaaact ctgtctcaaa aaaaaaaaaa
     1501 agaggtgggt ggattacttg aggtcagggt ttgagatcag cctgaccaac atggtgaaac
     1561 cctatctcta ctaaaaatat agaattagcc aggcatggta gcgcacgcct gtaatcccat
     1621 cttcttggga ggctgaggca ggagaatcgc tagaaactgg gaggtggagg ttacagtagc
     1681 cgagatcgcg ccactgcatt ccagcctggg caacaaaagc gaaactctgt ctcaaaaaag
     1741 aaaaaaaaga aaaaaaagca cgtgacctta tgaggctctc gctgtattgt tattttaagg
     1801 actataaaga gtttgattta aaattatgca gggcccctat gtgggatttt ttaaaaagca
     1861 aactggtgtg tattctcatg tggtttgcac agcccagcct cacagcacta ttgtaaaccc
     1921 tgctctttct gtctcgctag acagattttt ttgtttgttt tcttttttct ggttgttttt
     1981 tgttgttgtt gttgttgttt tacagctgaa accaaccagc aagcccttga tgaccaagag
     2041 gcgtttcttt caaagctata gggcacaaac aattgaccat agatgactcc gtttgcattc
     2101 ttctgcagaa ttatttcctt cagggacaga ttttccaacc taagaaacta cctaccgtgt
     2161 gtattctctt gacggggaga gatgaaccct tcagctgcta agatccaaga aaacgcctca
     2221 ctgccttaac cttaactgtt cttcctggcg ctaaaaagag ctgtattttt taaagtgctg
     2281 gggcaaacaa agcaacccca aaagagttga tgtgtgtttt aaaagaaaaa acccaatgag
     2341 gaacaattgg agatttttat gcagaaacta aataatcctt aataaataaa tctctatttt
     2401 ggaatca
//
