LOCUS       NM_015627               2914 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens low density lipoprotein receptor adaptor protein 1
            (LDLRAP1), mRNA.
ACCESSION   NM_015627
VERSION     NM_015627.3
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 2914)
  AUTHORS   Silva Rodrigues Marcal,E.D., Borges,J.B., Bastos,G.M., Crespo
            Hirata,T.D., de Oliveira,V.F., Goncalves,R.M., Faludi,A.A., Dias
            Franca,J.I., de Oliveira Silva,D.V., Malaquias,V.B., Luchessi,A.D.,
            Silbiger,V.N., Nakazone,M.A., Carmo,T.S., Silva Souza,D.R.,
            Sampaio,M.F., Crespo Hirata,R.D. and Hirata,M.H.
  TITLE     Methylation status of LDLR, PCSK9 and LDLRAP1 is associated with
            cardiovascular events in familial hypercholesterolemia
  JOURNAL   Epigenomics 16 (11-12), 809-820 (2024)
   PUBMED   38884343
  REMARK    GeneRIF: Methylation status of LDLR, PCSK9 and LDLRAP1 is
            associated with cardiovascular events in familial
            hypercholesterolemia.
REFERENCE   2  (bases 1 to 2914)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (bases 1 to 2914)
  AUTHORS   Ahangari,N., Sahebkar,A., Azimi-Nezhad,M., Ghazizadeh,H.,
            Moohebati,M., Ebrahim,M., Esmaeili,H., Ferns,G.A., Pasdar,A. and
            Ghayour Mobarhan,M.
  TITLE     A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial
            Hypercholesterolemia
  JOURNAL   Iran Biomed J 25 (5), 374-379 (2021)
   PUBMED   34425670
  REMARK    GeneRIF: A Novel Splice Site Variant in the LDLRAP1 Gene Causes
            Familial Hypercholesterolemia
REFERENCE   4  (bases 1 to 2914)
  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 2914)
  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   6  (bases 1 to 2914)
  AUTHORS   He,G., Gupta,S., Yi,M., Michaely,P., Hobbs,H.H. and Cohen,J.C.
  TITLE     ARH is a modular adaptor protein that interacts with the LDL
            receptor, clathrin, and AP-2
  JOURNAL   J Biol Chem 277 (46), 44044-44049 (2002)
   PUBMED   12221107
  REMARK    GeneRIF: ARH functions as an adaptor protein that couples LDLR to
            the endocytic machinery
REFERENCE   7  (bases 1 to 2914)
  AUTHORS   Al-Kateb,H., Bahring,S., Hoffmann,K., Strauch,K., Busjahn,A.,
            Nurnberg,G., Jouma,M., Bautz,E.K., Dresel,H.A. and Luft,F.C.
  TITLE     Mutation in the ARH gene and a chromosome 13q locus influence
            cholesterol levels in a new form of digenic-recessive familial
            hypercholesterolemia
  JOURNAL   Circ Res 90 (9), 951-958 (2002)
   PUBMED   12016260
REFERENCE   8  (bases 1 to 2914)
  AUTHORS   Arca,M., Zuliani,G., Wilund,K., Campagna,F., Fellin,R.,
            Bertolini,S., Calandra,S., Ricci,G., Glorioso,N., Maioli,M.,
            Pintus,P., Carru,C., Cossu,F., Cohen,J. and Hobbs,H.H.
  TITLE     Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and
            mutations in ARH: a clinical and molecular genetic analysis
  JOURNAL   Lancet 359 (9309), 841-847 (2002)
   PUBMED   11897284
REFERENCE   9  (bases 1 to 2914)
  AUTHORS   Garcia,C.K., Wilund,K., Arca,M., Zuliani,G., Fellin,R., Maioli,M.,
            Calandra,S., Bertolini,S., Cossu,F., Grishin,N., Barnes,R.,
            Cohen,J.C. and Hobbs,H.H.
  TITLE     Autosomal recessive hypercholesterolemia caused by mutations in a
            putative LDL receptor adaptor protein
  JOURNAL   Science 292 (5520), 1394-1398 (2001)
   PUBMED   11326085
REFERENCE   10 (bases 1 to 2914)
  AUTHORS   Ison,H.E., Clarke,S.L. and Knowles,J.W.
  TITLE     Familial Hypercholesterolemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24404629
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK091219.1, AL117654.1,
            DA930479.1 and AL606491.19.
            
            On Aug 31, 2019 this sequence version replaced NM_015627.2.
            
            Summary: The protein encoded by this gene is a cytosolic protein
            which contains a phosphotyrosine binding (PTD) domain. The PTD
            domain has been found to interact with the cytoplasmic tail of the
            LDL receptor. Mutations in this gene lead to LDL receptor
            malfunction and cause the disorder autosomal recessive
            hypercholesterolaemia. [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 :: BC029770.1, AL117654.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374338.5/ ENSP00000363458.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-315               AK091219.1         27-341
            316-696             AL117654.1         244-624
            697-1105            DA930479.1         190-598
            1106-2914           AL606491.19        4782-6590
FEATURES             Location/Qualifiers
     source          1..2914
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..2914
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /note="low density lipoprotein receptor adaptor protein 1"
                     /db_xref="GeneID:26119"
                     /db_xref="HGNC:HGNC:18640"
                     /db_xref="MIM:605747"
     exon            1..181
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..1020
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /note="LDL receptor adaptor protein; autosomal recessive
                     hypercholesterolemia protein"
                     /codon_start=1
                     /product="low density lipoprotein receptor adapter protein
                     1"
                     /protein_id="NP_056442.2"
                     /db_xref="CCDS:CCDS30639.1"
                     /db_xref="GeneID:26119"
                     /db_xref="HGNC:HGNC:18640"
                     /db_xref="MIM:605747"
                     /translation="MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLE
                     GMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILTDN
                     LTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
                     VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEET
                     AKAPLSTVSANTTNMDEVPRPQALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGL
                     TAQDMHYAQCLSPVDWDKPDSSGTEQDDLFSF"
     exon            182..324
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /inference="alignment:Splign:2.1.0"
     exon            325..437
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /inference="alignment:Splign:2.1.0"
     exon            438..552
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /inference="alignment:Splign:2.1.0"
     exon            553..625
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /inference="alignment:Splign:2.1.0"
     exon            626..709
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /inference="alignment:Splign:2.1.0"
     exon            710..840
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /inference="alignment:Splign:2.1.0"
     exon            841..875
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /inference="alignment:Splign:2.1.0"
     exon            876..2914
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2888..2893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /note="hexamer: AATAAA"
     polyA_site      2914
                     /gene="LDLRAP1"
                     /gene_synonym="ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4"
                     /note="major polyA site"
ORIGIN      
        1 ggagcgcgca gcccgcgcgc cgcagggccg ggcggaaagt ttttcctgac ggagttttgg
       61 ctgcggcagc ggcggcggcg gccggagcgg gccatggacg cgctcaagtc ggcggggcgg
      121 gcgctgatcc ggagccccag cttggccaag cagagctggg ggggcggtgg ccggcaccgc
      181 aagctgcctg agaactggac agacacgcgg gagacgctgc tggaggggat gctgttcagc
      241 ctcaagtacc tgggcatgac gctagtggag cagcccaagg gtgaggagct gtcggccgcc
      301 gccatcaaga ggatcgtggc tacagctaag gccagtggga agaagctgca gaaggtgact
      361 ctgaaggtgt cgccacgggg aattatcctg acagacaacc tcaccaacca gctcattgag
      421 aacgtgtcca tatacaggat ctcctattgc acagcagaca agatgcacga caaggtgttt
      481 gcatacatcg cccagagcca gcacaaccag agcctcgagt gccacgcctt cctctgcacc
      541 aagcggaaga tggcacaggc tgttaccctc accgtagccc aggccttcaa agtcgccttt
      601 gagttttggc aggtgtccaa ggaagagaaa gagaagaggg acaaagccag ccaagaggga
      661 ggggacgtcc tgggggcccg ccaagactgc accccctcct tgaagagctt ggtcgccact
      721 gggaacctgc tggacttaga ggagacagct aaggccccgc tgtccacggt cagcgccaac
      781 accaccaaca tggacgaggt gccgcggcca caagccttga gtggcagcag tgttgtctgg
      841 gagctggatg atggcctgga tgaagcgttt tcgaggcttg cccagtctcg gacaaaccct
      901 caggtcctgg acactggcct gacagcccag gacatgcatt acgcccagtg cctctcgcct
      961 gtcgactggg acaagcctga cagcagcggc acagagcagg atgacctctt cagcttctga
     1021 gggcccgggg ccagccggac acaagcggcc ctgacacgtg atggaccaaa gccacctgct
     1081 gcgggggagc cagttctggg gcccgcctgc cacctctccc agccctcagc attgtcagcc
     1141 tgaagatcag agctgcagcc agtcaggcag gggagagatt tttcttttaa gccctgctct
     1201 ttctctgaga accaaaagat gccttgaata tttattcagt gacttctggc ttatgctcag
     1261 aagccagtct gcgtcaggca cgtctcctgc tgcgtgacat gtgcagtgct gtaatcggct
     1321 cccgcttgct ctcctggagc aagctctgcc ctggctgtgg gtatcaggac tgtgaccaaa
     1381 gcatttctag tcccttctct ctttctaagg acccaaattt ccctgggggc atcctgcttc
     1441 ctgaaagctg ttggatttca gtgatttttc cccccacccc ccagcacagg agagcaccca
     1501 cagccgcaga aggggaatgt gtcctcctgc tctgcttcct cagggcccag caggcggggg
     1561 tttgagccct ggaccccagg ctcttagaga ctaaggggca gctcctgacc aaagacgata
     1621 cagcttggca ctttaaagca ttaacagcag gtgtgaccct gagggctcct ccatggtgct
     1681 gcattgagtc cagctttcct tctgcccttc ctccaggaga aggggcccaa ggtccccgtg
     1741 gatggtctcc acctgtgctt ggaaccagtg taactggctg ctccctgctc ccagggactg
     1801 acacggggat catctctgtg accgccctcc gtcgggcccc tgcctgcctt ctcccctcca
     1861 cgcaaggctg tgctcttcct ctggtttctg tgtgtccgtt tgagtgtctg cgccccgcct
     1921 ccccatactt cctgggatga tgtgtgaaac ctgacaccta gatttatttg gaaatattct
     1981 atgaccactt tacagatgag gaaacaggcc tcaagcgtgg aggggtagag tgaagagtag
     2041 aacccaggtc tgatgccaaa gctgctttct tctctgcctc ctcctcacgc aactcacacc
     2101 tccttttctt ctagctttgt tgtcctccca ggaaccaaaa aaccccagct attttctgac
     2161 caaaatgtgt ttcataacaa accatctggt gcctttccac acagaactgg caggagcctc
     2221 gtgtcctgct agctgtctct cttgttgatt tccgtgaaaa tgcaagtgtt tgaagtctgc
     2281 tcattccgag ggtgaaacaa aatccaaccc tgtcagaatc atgctgttct ctttgctgac
     2341 actgtgaccc tgggtcggga cagaccagca gcaatctgtc tttagaatcg ctttccttcc
     2401 tccccttttg cccccgtggg gctcccggca tcctgaaagc cagcaaagcc tccagcatct
     2461 tttccatcct gaggtgcctc ccagtggcct ggcttgtcgg agcaagtttc atcagcccta
     2521 gggaaaacac ggccctcctg ggaacctcct tacctggagt aaccggacac cttagacgga
     2581 ggtgcctgag ggtggggtgg gatttgcagg gtcattatca gaacatgagg ataacttcct
     2641 tgcccctgct ctgtagccac ctccttggca ccggcctcta tttgtcataa ggcggcgtgg
     2701 gcgaggcctg acacaggcca gccttggcac gaggggggcc aggggttctg agaagcgctg
     2761 ccctgtgaga gccacgctgg ccttcgtctc catctctggt tgacgggctg tccgtgtgcc
     2821 tcctgtgtgt ctgcagacaa gtcttgctgt gctttatttg tgaaacttta atgaggaaaa
     2881 aacaaataat aaatgttctc gttttgaaac tcaa
//
