LOCUS       NP_817090                628 aa            linear   ROD 25-APR-2025
DEFINITION  huntingtin-associated protein 1 isoform B [Mus musculus].
ACCESSION   NP_817090
VERSION     NP_817090.1
DBSOURCE    REFSEQ: accession NM_177981.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 628)
  AUTHORS   Zouaghi,Y., Alpern,D., Gardeux,V., Russeil,J., Deplancke,B.,
            Santoni,F., Pitteloud,N. and Messina,A.
  TITLE     Transcriptomic profiling of murine GnRH neurons reveals
            developmental trajectories linked to human reproduction and
            infertility
  JOURNAL   Theranostics 15 (8), 3673-3692 (2025)
   PUBMED   40093908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 628)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (residues 1 to 628)
  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   4  (residues 1 to 628)
  AUTHORS   Xin,N., Lu,J., Zhou,Y. and Cheng,Y.
  TITLE     Dexamethasone Protects Against Ischaemic Brain Injury via
            Inhibiting the pAkt Signalling Pathway Through Increasing Hap1
  JOURNAL   Neurotox Res 39 (2), 191-197 (2021)
   PUBMED   32876919
  REMARK    GeneRIF: Dexamethasone Protects Against Ischaemic Brain Injury via
            Inhibiting the pAkt Signalling Pathway Through Increasing Hap1.
REFERENCE   5  (residues 1 to 628)
  AUTHORS   Gong,Y.J., Feng,Y., Cao,Y.Y., Zhao,J., Wu,W., Zheng,Y.Y., Wu,J.R.,
            Li,X., Yang,G.Z. and Zhou,X.
  TITLE     Huntingtin-associated protein 1 plays an essential role in the
            pathogenesis of type 2 diabetes by regulating the translocation of
            GLUT4 in mouse adipocytes
  JOURNAL   BMJ Open Diabetes Res Care 8 (1) (2020)
   PUBMED   33060070
  REMARK    GeneRIF: Huntingtin-associated protein 1 plays an essential role in
            the pathogenesis of type 2 diabetes by regulating the translocation
            of GLUT4 in mouse adipocytes.
REFERENCE   6  (residues 1 to 628)
  AUTHORS   Sheng,G., Xu,X., Lin,Y.F., Wang,C.E., Rong,J., Cheng,D., Peng,J.,
            Jiang,X., Li,S.H. and Li,X.J.
  TITLE     Huntingtin-associated protein 1 interacts with Ahi1 to regulate
            cerebellar and brainstem development in mice
  JOURNAL   J Clin Invest 118 (8), 2785-2795 (2008)
   PUBMED   18636121
  REMARK    GeneRIF: Hap1 interacts with Ahi1 to regulate cerebellar and
            brainstem development in mice.
REFERENCE   7  (residues 1 to 628)
  AUTHORS   Martin,E.J., Kim,M., Velier,J., Sapp,E., Lee,H.S., Laforet,G.,
            Won,L., Chase,K., Bhide,P.G., Heller,A., Aronin,N. and Difiglia,M.
  TITLE     Analysis of Huntingtin-associated protein 1 in mouse brain and
            immortalized striatal neurons
  JOURNAL   J Comp Neurol 403 (4), 421-430 (1999)
   PUBMED   9888310
REFERENCE   8  (residues 1 to 628)
  AUTHORS   Nasir,J., Duan,K., Nichol,K., Engelender,S., Ashworth,R.,
            Colomer,V., Thomas,S., Disteche,C.M., Hayden,M.R. and Ross,C.A.
  TITLE     Gene structure and map location of the murine homolog of the
            Huntington-associated protein, Hap1
  JOURNAL   Mamm Genome 9 (7), 565-570 (1998)
   PUBMED   9657855
REFERENCE   9  (residues 1 to 628)
  AUTHORS   Bertaux,F., Sharp,A.H., Ross,C.A., Lehrach,H., Bates,G.P. and
            Wanker,E.
  TITLE     HAP1-huntingtin interactions do not contribute to the molecular
            pathology in Huntington's disease transgenic mice
  JOURNAL   FEBS Lett 426 (2), 229-232 (1998)
   PUBMED   9599014
REFERENCE   10 (residues 1 to 628)
  AUTHORS   Dragatsis,I., Efstratiadis,A. and Zeitlin,S.
  TITLE     Mouse mutant embryos lacking huntingtin are rescued from lethality
            by wild-type extraembryonic tissues
  JOURNAL   Development 125 (8), 1529-1539 (1998)
   PUBMED   9502734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY288360.1 and BC053043.1.
            
            Summary: The protein encoded by this gene was first identified as a
            neuronal protein that binds the HD protein huntingtin. The protein
            also interacts with kinesin light chain, 14-3-3 proteins, and
            Abelson helper integration site 1 protein. The protein is involved
            in intracellular trafficking of vesicles and organelles, and lack
            of the protein results in neuronal death resembling the
            hypothalamic degeneration that occurs in Huntington's disease.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Apr 2009].
            
            Transcript Variant: This variant (2) encodes the longest isoform
            (B).
            
            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 :: BC053043.1, BC034089.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131, SAMN01164138
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate          :: PMID: 18636121
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 63.47 cM"
     Protein         1..628
                     /product="huntingtin-associated protein 1 isoform B"
                     /calculated_mol_wt=69985
     Region          1..62
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O35668.1)"
     Region          80..402
                     /region_name="HAP1_N"
                     /note="HAP1 N-terminal conserved region; pfam04849"
                     /db_xref="CDD:461455"
     Region          152..319
                     /region_name="Sufficient for interaction with KIF5B.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O35668.1)"
     Region          157..261
                     /region_name="Interaction with TBP.
                     /evidence=ECO:0000269|PubMed:17868456"
                     /note="propagated from UniProtKB/Swiss-Prot (O35668.1)"
     Region          212..264
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O35668.1)"
     Region          276..444
                     /region_name="Sufficient for self-association and
                     interaction with HD. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O35668.1)"
     Region          372..411
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O35668.1)"
     Region          451..529
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O35668.1)"
     Region          473..582
                     /region_name="Interaction with TBP.
                     /evidence=ECO:0000269|PubMed:17868456"
                     /note="propagated from UniProtKB/Swiss-Prot (O35668.1)"
     Region          562..628
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O35668.1)"
     Site            598
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P54256; propagated from
                     UniProtKB/Swiss-Prot (O35668.1)"
     CDS             1..628
                     /gene="Hap1"
                     /gene_synonym="HAP-1"
                     /coded_by="NM_177981.2:65..1951"
                     /note="isoform B is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS56806.1"
                     /db_xref="GeneID:15114"
                     /db_xref="MGI:MGI:1261831"
ORIGIN      
        1 mrpkeqvqsg agdgtgsgdp aagtpttqpa vgpapepsae pkpapaqgtg sgqksgsrtk
       61 tgsfcrsmii gdsdapwtry vfqgpygpra tglgtgkaeg iwktpaayig rrpgvsgper
      121 aafirelqea lcpnppptkk iteddvkvml ylleekerdl ntaarigqsl vkqnsvlmee
      181 nnkletmlgs areeilhlrk qvnlrddllq lysdsddddd eedeedeeeg eeeeregqrd
      241 qdqqhdhpyg apkphpkaet ahrcpqletl qqklrlleee ndhlreeash ldnledeeqm
      301 lilecveqfs easqqmaels evlvlrlegy erqqkeitql qaeitklqqr cqsygaqtek
      361 lqqmlasekg ihseslrags ymqdygsrpr drqedgkshr qrssmpagsv thygysvpld
      421 alpsfpetla eelrtslrkf itdpayfmer rdthcregrk keqrampppp aqdlkppedf
      481 eapeelvpee elgaieevgt aedgqaeene qaseeteawe evepevdett rmnvvvsale
      541 asglgpshld mkyvlqqlsn wqdahskrqq kqkvvpkdsp tpqqqtnmgg gileqqprvp
      601 tqdsqrleed rathspsare eegpsgat
//
