LOCUS       NM_177977               3930 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens huntingtin associated protein 1 (HAP1), transcript
            variant 2, mRNA.
ACCESSION   NM_177977
VERSION     NM_177977.3
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 3930)
  AUTHORS   Qu,Y.M., Chen,A., Zhao,X., Wang,Z., Guo,D., Shao,S.L., Tao,Y.Y.,
            Li,Q.J., Wang,M.Y. and Ma,W.S.
  TITLE     Huntingtin-associated protein 1 is a potential tumor suppressor for
            gastric cancer
  JOURNAL   Mol Biol Rep 50 (2), 1517-1531 (2023)
   PUBMED   36509909
  REMARK    GeneRIF: Huntingtin-associated protein 1 is a potential tumor
            suppressor for gastric cancer.
REFERENCE   2  (bases 1 to 3930)
  AUTHORS   Chen,X., Sun,Y., Chen,L., Chen,X.S., Pan,M., Zhang,Y., Wang,Q.,
            Yang,W., Yin,P., He,D., Guo,X., Yang,S., Zeng,Y., Yan,S., Li,X.J.
            and Li,S.
  TITLE     Differential expression and roles of Huntingtin and
            Huntingtin-associated protein 1 in the mouse and primate brains
  JOURNAL   Cell Mol Life Sci 79 (11), 554 (2022)
   PUBMED   36251080
  REMARK    GeneRIF: Differential expression and roles of Huntingtin and
            Huntingtin-associated protein 1 in the mouse and primate brains.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3930)
  AUTHORS   Cason,S.E., Carman,P.J., Van Duyne,C., Goldsmith,J., Dominguez,R.
            and Holzbaur,E.L.F.
  TITLE     Sequential dynein effectors regulate axonal autophagosome motility
            in a maturation-dependent pathway
  JOURNAL   J Cell Biol 220 (7) (2021)
   PUBMED   34014261
  REMARK    GeneRIF: Sequential dynein effectors regulate axonal autophagosome
            motility in a maturation-dependent pathway.
REFERENCE   4  (bases 1 to 3930)
  AUTHORS   Beigl,T.B., Kjosas,I., Seljeseth,E., Glomnes,N. and Aksnes,H.
  TITLE     Efficient and crucial quality control of HAP1 cell ploidy status
  JOURNAL   Biol Open 9 (11) (2020)
   PUBMED   33184093
  REMARK    GeneRIF: Efficient and crucial quality control of HAP1 cell ploidy
            status.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3930)
  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 3930)
  AUTHORS   Nasir,J., Lafuente,M.J., Duan,K., Colomer,V., Engelender,S.,
            Ingersoll,R., Margolis,R.L., Ross,C.A. and Hayden,M.R.
  TITLE     Human huntingtin-associated protein (HAP-1) gene: genomic
            organisation and an intragenic polymorphism
  JOURNAL   Gene 254 (1-2), 181-187 (2000)
   PUBMED   10974549
REFERENCE   7  (bases 1 to 3930)
  AUTHORS   Gutekunst,C.A., Li,S.H., Yi,H., Ferrante,R.J., Li,X.J. and
            Hersch,S.M.
  TITLE     The cellular and subcellular localization of huntingtin-associated
            protein 1 (HAP1): comparison with huntingtin in rat and human
  JOURNAL   J Neurosci 18 (19), 7674-7686 (1998)
   PUBMED   9742138
REFERENCE   8  (bases 1 to 3930)
  AUTHORS   Li,S.H., Hosseini,S.H., Gutekunst,C.A., Hersch,S.M., Ferrante,R.J.
            and Li,X.J.
  TITLE     A human HAP1 homologue. Cloning, expression, and interaction with
            huntingtin
  JOURNAL   J Biol Chem 273 (30), 19220-19227 (1998)
   PUBMED   9668110
  REMARK    Erratum:[J Biol Chem 1999 Apr 2;274(14):9906]
REFERENCE   9  (bases 1 to 3930)
  AUTHORS   Engelender,S., Sharp,A.H., Colomer,V., Tokito,M.K., Lanahan,A.,
            Worley,P., Holzbaur,E.L. and Ross,C.A.
  TITLE     Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued
            subunit of dynactin
  JOURNAL   Hum Mol Genet 6 (13), 2205-2212 (1997)
   PUBMED   9361024
REFERENCE   10 (bases 1 to 3930)
  AUTHORS   Li,X.J., Li,S.H., Sharp,A.H., Nucifora,F.C. Jr., Schilling,G.,
            Lanahan,A., Worley,P., Snyder,S.H. and Ross,C.A.
  TITLE     A huntingtin-associated protein enriched in brain with implications
            for pathology
  JOURNAL   Nature 378 (6555), 398-402 (1995)
   PUBMED   7477378
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA231862.1, DA242226.1,
            AF040723.1, DA203084.1, AK022007.1, AC109319.17 and CB128405.1.
            
            On Jul 25, 2019 this sequence version replaced NM_177977.2.
            
            Summary: Huntington's disease (HD), a neurodegenerative disorder
            characterized by loss of striatal neurons, is caused by an
            expansion of a polyglutamine tract in the HD protein huntingtin.
            This gene encodes a protein that interacts with huntingtin, with
            two cytoskeletal proteins (dynactin and pericentriolar autoantigen
            protein 1), and with a hepatocyte growth factor-regulated tyrosine
            kinase substrate. The interactions with cytoskeletal proteins and a
            kinase substrate suggest a role for this protein in vesicular
            trafficking or organelle transport. Several alternatively spliced
            transcript variants encoding different isoforms have been described
            for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) encodes isoform 2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by 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 :: SRR11853565.12650.1, GQ901030.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000347901.9/ ENSP00000334002.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-558               DA231862.1         4-561
            559-563             DA242226.1         559-563
            564-1532            AF040723.1         565-1533
            1533-1727           DA203084.1         381-575
            1728-2029           AF040723.1         1729-2030
            2030-2141           AK022007.1         1979-2090
            2142-2482           AC109319.17        19052-19392         c
            2483-3089           AK022007.1         2432-3038
            3090-3364           CB128405.1         182-456
            3365-3708           AC109319.17        17826-18169         c
            3709-3930           AK022007.1         3655-3876
FEATURES             Location/Qualifiers
     source          1..3930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..3930
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /note="huntingtin associated protein 1"
                     /db_xref="GeneID:9001"
                     /db_xref="HGNC:HGNC:4812"
                     /db_xref="MIM:600947"
     exon            1..478
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..1869
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /note="isoform 2 is encoded by transcript variant 2;
                     huntingtin-associated protein 2; neuroan 1; HAP-1;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="huntingtin-associated protein 1 isoform 2"
                     /protein_id="NP_817084.2"
                     /db_xref="CCDS:CCDS11406.1"
                     /db_xref="GeneID:9001"
                     /db_xref="HGNC:HGNC:4812"
                     /db_xref="MIM:600947"
                     /translation="MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQAR
                     GTGQRVGSRATSGSQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDA
                     PWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCP
                     NLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQN
                     SVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAE
                     EEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREE
                     ASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVL
                     KLQQRCRMYGAETEKLQKQLASEKEIQMQLQEEETLPGFQETLAEELRTSLRRMISDP
                     VYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEF
                     VPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLG
                     PSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR"
     exon            479..558
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     exon            559..723
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     exon            724..905
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1011
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1078
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1209
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1284
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1376
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1415
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..3930
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3908..3913
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /note="hexamer: AATAAA"
     polyA_site      3930
                     /gene="HAP1"
                     /gene_synonym="HAP2; hHLP1; HIP5; HLP"
                     /note="major polyA site"
ORIGIN      
        1 agactcgaga tgcgcccgaa gaggttgggc cggtgctgcg cggggagccg gctcggaccc
       61 ggggacccag cagcactcac ctgtgcacct tcgccctcag ccagtcccgc tccggagccc
      121 tctgcgcagc cgcaggcacg gggcactgga cagagagtag gatcccgagc cacctctgga
      181 tcccagttcc tctcggaagc ccgcaccgga gctcgcccgg cctcggaggc tggagccaag
      241 gcaggagccc ggcgcccgtc cgcattctcg gccatccaag gggatgtccg gtctatgccc
      301 gacaattcgg acgcgccgtg gacccgcttc gtattccaag ggccgtttgg ttcccgggcc
      361 actggccggg ggactggaaa ggcagcgggc atctggaaga cgccagccgc ctacgttggc
      421 cggcgacccg gggtgtccgg ccctgagcgc gccgccttta ttcgggagct ggaggaagca
      481 ctgtgtccta acctacctcc gccagtcaaa aagatcaccc aggaagacgt caaagtgatg
      541 ttatatttgc tggaggagct tctcccacct gtctgggaga gcgttaccta tgggatggtc
      601 ctgcagagag agagggacct gaacactgca gctcgcatcg gccagtccct ggtgaaacag
      661 aacagtgttt tgatggagga gaacagcaag ctggaagccc tgctgggctc agccaaggag
      721 gagattttat acctcagaca ccaggtgaac ttgcgggatg agctcctcca gctctactca
      781 gattctgatg aggaggatga ggatgaagaa gaggaggagg aagaaaagga ggcagaagag
      841 gaacaggaag aagaagaagc agaggaagac ctgcagtgtg ctcatccctg tgatgcccct
      901 aagctgattt cgcaggaggc attgctgcac cagcaccact gcccacagct ggaagccttg
      961 caggagaagc tgaggctgct ggaggaggag aatcatcagc tgagagaaga ggcctctcaa
     1021 ctcgacactc ttgaggatga ggaacagatg ctcattctgg agtgtgtgga gcagttttcg
     1081 gaggccagcc aacagatggc tgagctgtcg gaggtgctgg tgctcaggct ggaaaactat
     1141 gaacggcagc agcaggaggt cgctcggctg caggcccagg tgctgaagct gcagcagcgc
     1201 tgccggatgt atggggctga gactgaaaag ttgcagaagc agctggcttc ggagaaggaa
     1261 atccagatgc agctccagga agaggagact cttcctggtt tccaggagac gctggctgag
     1321 gagctcagaa cgtctctaag gaggatgatc tcagaccctg tgtattttat ggagaggaat
     1381 tatgagatgc ccagagggga cacatccagc ctaaggtatg attttcgcta cagtgaggat
     1441 cgagagcagg tgcgggggtt tgaggctgag gaagggttga tgctggcagc ggatatcatg
     1501 cggggggaag atttcacgcc tgcggaggag ttcgtgcccc aggaggagct gggggctgcc
     1561 aagaaggtgc cggctgagga aggggtgatg gaagaggcag agctggtgtc agaggagacc
     1621 gagggctggg aggaggtgga actggagctg gatgaggcaa cgcggatgaa cgtggtgaca
     1681 tcagccctgg aggccagcgg cttgggccct tcacacctgg acatgaatta tgtcctccag
     1741 cagctggcca actggcaaga tgcccattac aggcggcagc tgaggtggaa gatgctccag
     1801 aaaggtgagt gcccccacgg ggccctccct gccgccagcc ggacaagctg cagatcgtcg
     1861 tgccgatgaa aagagagggt ggataagctc cccgagtgct cacctgcccc agcctggctc
     1921 tacctgctgt gcttatttgc atggactttg catatcattt gcatagacac ctctgatccc
     1981 cttcagtggg aaccgtagtg tcagtgctca tttatgtggc atttgcttag gattccagat
     2041 ctccatccac ttttctcctg ggggctgggc tgggggttag ggctgggact gtgcccccac
     2101 actgcgcctc agcttcccat ctctgcccgc ttgcttcccc tgcccccaac ccctgcctcc
     2161 tctatccccc aggctctcca actctgcagc agtggcagca gcagtcaaaa caaacacggg
     2221 gggcggtggg tgggatggtg gagcagcccg ggggctgacc caggctggag gacagggcca
     2281 gccaccctcc cacggcctgg gaggaagaga ggccttctgg gactgcccag gctatgggga
     2341 caaaggcctt caccagcaag ggccacagtt ggaacagtcc cctgggtgtc agaaggtggg
     2401 ctagggcctc ctgcagggtt gtggggtgga acagggtctc ctctccccag ccagaaaccc
     2461 caaagtctgg gagctgcacc ttccgagtgc aggccatgtg agccctgcct ctttaaggag
     2521 ccgcaggaca tgaaagatga ccttgtgaca ctcatgcaca gcagccattg cacgtgcatc
     2581 agctcccatc agcctcattc cgtggcaggt gatgtgtccc cattggttag gtgaggaggg
     2641 tgaggctcag agagctaagg acacttgttt ggggccacac agccggggta gatctgagcc
     2701 cgtcctctct actcctgtgc tgtagcacct tcactggccc atccctcccc tctagtgctg
     2761 tcctggtacc cgtcccagcc tgtccccatt ctcatggccc tttggtcact gccgggtgga
     2821 atagcactgg cttcagcagg cgtgtcatgt aagcttgtgc aggttataaa ctgaaccatg
     2881 acctttatgg cgcatgcagg gggcaacctg cataattatc aatggcgact ttccgtgtcc
     2941 ttctgataca gttgatcaga cccctgccca ccgcccaggc caggcctgtg gtcatcaatg
     3001 ccccagttca catccacctg cttctcttcc aggctttgct gttccccagc agcctgcaga
     3061 ggccccacag acagcttgag gcccctcctt ctgctgcctg gccaagcccc acacccgcag
     3121 accctccttc ccatcctctg aaatgggacc ctgtgtctgt caccagccca ccctctgtgt
     3181 tcatgaacct gggctggagc ttggggaccc ctccctgccc ctggcttcct cttccatgtt
     3241 ctgccctttc ccacatgttg gaggcttttc caacgtcttc agggacaggc ggtaggaacc
     3301 ccggccctcg ctctgcagct ggtgcaaaag ctgtggctgc caggtctggg ccacatggca
     3361 gcccaggggg caggagaagc ccgggagagg cccactggct accagactca gccctgagca
     3421 gggaacaggg cccagcttcc accggcaggg agttgtgagc gccttcccaa caatgtgccc
     3481 ctcacccctt gatgcccatg ctaatggtag ccaccctggt tcttgttgac ttgagggacc
     3541 tggctgtctt ccctgttctt catcctttct tctcagtccc tacctactgt ttgtaaccac
     3601 aagtgtctct gtgtgtgggt gggtgagggc ccctctgccc agtggtgtgt ctcctctccc
     3661 tccctccctc ttctgccagt ggcctggggg tgtccaggct cccatccgtg gcccagcccc
     3721 tctcccctct gtcttgatcc ccccctccct gcccctggct tcctcttcca tgttctgccc
     3781 tttcccacac ctttgttcct caatagctgg gggctgggac tgaggcctcc tgcaggtacc
     3841 tgcccccctt cacacagcac ctctcaatct cctattgctt gtcagcctgt gtgcgtgtgg
     3901 tgcaggaaat aaaggatcta taccctcctg
//
