LOCUS       NM_010119               3182 bp    mRNA    linear   ROD 01-AUG-2024
DEFINITION  Mus musculus EH-domain containing 1 (Ehd1), mRNA.
ACCESSION   NM_010119
VERSION     NM_010119.5
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  (bases 1 to 3182)
  AUTHORS   Martinez-Mayer,J., Brinkmeier,M.L., O'Connell,S.P., Ukagwu,A.,
            Marti,M.A., Miras,M., Forclaz,M.V., Benzrihen,M.G., Cheung,L.Y.M.,
            Camper,S.A., Ellsworth,B.S., Raetzman,L.T., Perez-Millan,M.I. and
            Davis,S.W.
  TITLE     Knockout mice with pituitary malformations help identify human
            cases of hypopituitarism
  JOURNAL   Genome Med 16 (1), 75 (2024)
   PUBMED   38822427
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3182)
  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  (bases 1 to 3182)
  AUTHORS   Meindl,K., Issler,N., Afonso,S., Cebrian-Serrano,A., Muller,K.,
            Sterner,C., Othmen,H., Tegtmeier,I., Witzgall,R., Klootwijk,E.,
            Davies,B., Kleta,R. and Warth,R.
  TITLE     A missense mutation in Ehd1 associated with defective
            spermatogenesis and male infertility
  JOURNAL   Front Cell Dev Biol 11, 1240558 (2023)
   PUBMED   37900275
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3182)
  AUTHORS   Chakraborty,S., Bhat,A.M., Mushtaq,I., Luan,H., Kalluchi,A.,
            Mirza,S., Storck,M.D., Chaturvedi,N., Lopez-Guerrero,J.A.,
            Llombart-Bosch,A., Machado,I., Scotlandi,K., Meza,J.L., Ghosal,G.,
            Coulter,D.W., Jordan Rowley,M., Band,V., Mohapatra,B.C. and Band,H.
  TITLE     EHD1-dependent traffic of IGF-1 receptor to the cell surface is
            essential for Ewing sarcoma tumorigenesis and metastasis
  JOURNAL   Commun Biol 6 (1), 758 (2023)
   PUBMED   37474760
  REMARK    GeneRIF: EHD1-dependent traffic of IGF-1 receptor to the cell
            surface is essential for Ewing sarcoma tumorigenesis and
            metastasis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3182)
  AUTHORS   Issler,N., Afonso,S., Weissman,I., Jordan,K., Cebrian-Serrano,A.,
            Meindl,K., Dahlke,E., Tziridis,K., Yan,G., Robles-Lopez,J.M.,
            Tabernero,L., Patel,V., Kesselheim,A., Klootwijk,E.D.,
            Stanescu,H.C., Dumitriu,S., Iancu,D., Tekman,M., Mozere,M.,
            Jaureguiberry,G., Outtandy,P., Russell,C., Forst,A.L., Sterner,C.,
            Heinl,E.S., Othmen,H., Tegtmeier,I., Reichold,M., Schiessl,I.M.,
            Limm,K., Oefner,P., Witzgall,R., Fu,L., Theilig,F., Schilling,A.,
            Shuster Biton,E., Kalfon,L., Fedida,A., Arnon-Sheleg,E., Ben
            Izhak,O., Magen,D., Anikster,Y., Schulze,H., Ziegler,C., Lowe,M.,
            Davies,B., Bockenhauer,D., Kleta,R., Falik Zaccai,T.C. and Warth,R.
  TITLE     A Founder Mutation in EHD1 Presents with Tubular Proteinuria and
            Deafness
  JOURNAL   J Am Soc Nephrol 33 (4), 732-745 (2022)
   PUBMED   35149593
REFERENCE   6  (bases 1 to 3182)
  AUTHORS   Guilherme,A., Soriano,N.A., Furcinitti,P.S. and Czech,M.P.
  TITLE     Role of EHD1 and EHBP1 in perinuclear sorting and insulin-regulated
            GLUT4 recycling in 3T3-L1 adipocytes
  JOURNAL   J Biol Chem 279 (38), 40062-40075 (2004)
   PUBMED   15247266
  REMARK    GeneRIF: EHD1 and EHBP1, but not EHD2, are required for perinuclear
            localization of GLUT4 and reveal that loss of EHBP1 disrupts
            insulin-regulated GLUT4 recycling in cultured adipocytes.
REFERENCE   7  (bases 1 to 3182)
  AUTHORS   Galperin,E., Benjamin,S., Rapaport,D., Rotem-Yehudar,R.,
            Tolchinsky,S. and Horowitz,M.
  TITLE     EHD3: a protein that resides in recycling tubular and vesicular
            membrane structures and interacts with EHD1
  JOURNAL   Traffic 3 (8), 575-589 (2002)
   PUBMED   12121420
  REMARK    GeneRIF: EHD3: a protein that resides in recycling tubular and
            vesicular membrane structures and interacts with EHD1.
REFERENCE   8  (bases 1 to 3182)
  AUTHORS   Lin,S.X., Grant,B., Hirsh,D. and Maxfield,F.R.
  TITLE     Rme-1 regulates the distribution and function of the endocytic
            recycling compartment in mammalian cells
  JOURNAL   Nat Cell Biol 3 (6), 567-572 (2001)
   PUBMED   11389441
REFERENCE   9  (bases 1 to 3182)
  AUTHORS   Pohl,U., Smith,J.S., Tachibana,I., Ueki,K., Lee,H.K., Ramaswamy,S.,
            Wu,Q., Mohrenweiser,H.W., Jenkins,R.B. and Louis,D.N.
  TITLE     EHD2, EHD3, and EHD4 encode novel members of a highly conserved
            family of EH domain-containing proteins
  JOURNAL   Genomics 63 (2), 255-262 (2000)
   PUBMED   10673336
REFERENCE   10 (bases 1 to 3182)
  AUTHORS   Mintz,L., Galperin,E., Pasmanik-Chor,M., Tulzinsky,S., Bromberg,Y.,
            Kozak,C.A., Joyner,A., Fein,A. and Horowitz,M.
  TITLE     EHD1--an EH-domain-containing protein with a specific expression
            pattern
  JOURNAL   Genomics 59 (1), 66-76 (1999)
   PUBMED   10395801
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC127556.4.
            
            On Jul 6, 2007 this sequence version replaced NM_010119.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: AF099186.1, AK166701.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-483               AC127556.4         119284-119766
            484-581             AC127556.4         123606-123703
            582-994             AC127556.4         136602-137014
            995-1159            AC127556.4         139921-140085
            1160-3182           AC127556.4         140462-142484
FEATURES             Location/Qualifiers
     source          1..3182
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 4.4 cM"
     gene            1..3182
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /note="EH-domain containing 1"
                     /db_xref="GeneID:13660"
                     /db_xref="MGI:MGI:1341878"
     exon            1..483
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1684
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /note="mPAST1; PAST homolog 1"
                     /codon_start=1
                     /product="EH domain-containing protein 1"
                     /protein_id="NP_034249.1"
                     /db_xref="CCDS:CCDS29501.1"
                     /db_xref="GeneID:13660"
                     /db_xref="MGI:MGI:1341878"
                     /translation="MFSWVSKDARRKKEPELFQTVAEGLRQLYAQKLLPLEEHYRFHE
                     FHSPALEDADFDNKPMVLLVGQYSTGKTTFIRHLIEQDFPGMRIGPEPTTDSFIAVMH
                     GPTEGVVPGNALVVDPRRPFRKLNAFGNAFLNRFMCAQLPNPVLDSISIIDTPGILSG
                     EKQRISRGYDFAAVLEWFAERVDRIILLFDAHKLDISDEFSEVIKALKNHEDKIRVVL
                     NKADQIETQQLMRVYGALMWSLGKIINTPEVVRVYIGSFWSHPLLIPDNRKLFEAEEQ
                     DLFKDIQSLPRNAALRKLNDLIKRARLAKVHAYIISSLKKEMPNVFGKESKKKELVNN
                     LGEIYQKIEREHQISSGDFPSLRKMQELLQTQDFSKFQALKPKLLDTVDDMLANDIAR
                     LMVMVRQEESLMPSQAVKGGAFDGTMNGPFGHGYGEGAGEGIDDVEWVVGKDKPTYDE
                     IFYTLSPVNGKITGANAKKEMVKSKLPNTVLGKIWKLADVDKDGLLDDEEFALANHLI
                     KVKLEGHELPADLPPHLIPPSKRRHE"
     exon            484..581
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /inference="alignment:Splign:2.1.0"
     exon            582..994
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1159
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..3182
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1966..1971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /note="hexamer: AATATA"
     polyA_site      1985
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /note="major polyA site"
     regulatory      3154..3159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /note="hexamer: ATTAAA"
     polyA_site      3179
                     /gene="Ehd1"
                     /gene_synonym="Past1; RME-1"
                     /note="major polyA site"
ORIGIN      
        1 cggcccctcc tcggccgcgc gccccagtcc cgctcagcca ccgctccgtc ctgtagcagc
       61 cagccccgtc tccggcatca tgttcagctg ggtgagcaag gatgcccgcc gcaagaagga
      121 gccggagctc ttccagacgg tggccgaggg gctgcggcag ctgtacgcgc agaagctgct
      181 gccgctggag gagcactatc gcttccacga gttccactcg cccgcgctgg aggacgctga
      241 cttcgacaac aagccgatgg tgctcctggt cggccagtac agcaccggca agaccacctt
      301 catccgccac ctgatcgagc aggacttccc ggggatgcgc atcgggccgg agcccaccac
      361 cgactccttc atcgcggtca tgcacggccc caccgagggc gtggtgcccg gcaacgcgct
      421 cgtcgtggac ccgcggcgcc ccttccgcaa gctcaacgcc ttcggcaacg ccttcctcaa
      481 caggttcatg tgtgcacagc tgcccaaccc agtactggac agcatcagca tcattgacac
      541 tcctgggatc ctgtctgggg agaagcagcg catcagccga ggttatgact ttgcggctgt
      601 ccttgagtgg ttcgcagagc gtgtggaccg catcatcttg ttgttcgacg cccacaagct
      661 ggacatctca gacgagttct cagaagtcat caaggccctc aaaaatcacg aggacaagat
      721 ccgtgtggtg ctgaacaagg ctgatcagat cgagacgcag cagctgatgc gagtatacgg
      781 ggccctcatg tggtccctgg ggaagatcat caacaccccc gaggtggtca gagtctacat
      841 cggctccttc tggtcacacc cactgctcat ccctgacaac cggaagctct tcgaggcaga
      901 ggagcaggac ctcttcaaag acatccagtc tctgccgaga aacgccgccc tcaggaagct
      961 caatgacctc atcaagcggg ccaggctggc caaggtccat gcctacatca tcagctccct
     1021 caagaaggag atgcccaatg ttttcgggaa agagagcaag aagaaagagc tggtgaacaa
     1081 cctgggagag atctaccaga agatcgagcg ggagcaccag atctcctccg gcgacttccc
     1141 aagcctgcgt aagatgcagg aactcctgca gacccaggac ttcagcaagt tccaggcctt
     1201 gaagcccaag ctgctggata cagtggatga tatgctggcc aacgatatag ctcggctgat
     1261 ggtgatggtg cgccaggagg agtccctgat gccctcacag gctgtgaagg gtggtgcttt
     1321 tgatggcacc atgaatgggc cctttgggca tggctacggc gagggggctg gcgagggcat
     1381 tgatgatgtt gagtgggtag ttggcaagga caagcccacc tatgatgaga tcttctacac
     1441 actgtctcct gtcaacggca agatcacagg tgctaatgcc aagaaggaga tggtgaagtc
     1501 caagctgccc aacacagtgc tggggaagat ctggaagttg gcagatgtgg acaaggatgg
     1561 cctgctggat gacgaggagt ttgccctggc caaccacctt atcaaggtga agctagaggg
     1621 ccacgagctg cccgctgacc ttcctccaca tctcattcca ccctccaaac ggaggcacga
     1681 gtgacttcca tgcctgagat accctacaac ccccagggct gctgccactt tctacccacc
     1741 agctccttgt ctgcccaggt gggctggggc ctggaggggc agaaattggg ggagggaaag
     1801 ggtcaccatt tttcaaggtc cataaagact gagcggtgtt tcctcagctc ttgaatagga
     1861 aaaccaccat ctttctttta aagctgttcc ggggttcagc gggaggcatg ggtgatgctt
     1921 ggatatgaac agtgggattt tgtgcacagg aaccatgata tttttaatat ataacattag
     1981 aggcagcctt ctttcttgcc tcttctgtct gacagcccca cactcatcct ctcccctatc
     2041 caagccaggc acctctccac cccaccctgg cacccctgtg cccgatgccc cagggctgtg
     2101 taagcaggag gtccctgctc cttcagcttg tttttagact ggggctccct caagggcagc
     2161 aggttgtttc ctgctagccg tgttctgtgc tccagtcctc tgctgtgctg tggggtgcac
     2221 accttactct gtccacatcc cctgacaccc cagccagcac agcagccaca ggtagaagac
     2281 ccaaccactg ttatttgttg tggaggcagg aggagttgcg agacagtcca tgacgtctag
     2341 gaaaatgcat aagctactta gtgttctgta gtgacacttg atacttgacc aagactttga
     2401 gtaacttaca tcactcgttc aaaactgtga tttttgtctc ctctttccta tactccagcc
     2461 ttggagcatt tccaccccag agccagcata gagctgacat cctagggctt gagtttgctt
     2521 tctggctgag gggaggtcat cccagcttct gctcagaggg gtctgaaatg tagccccccc
     2581 acccccgccc caaggtcaac ctttatggca gcttcctgga gcccctctct gccttgggac
     2641 aggcagtagg ccctgtgacc tggggtggtc tggggctggt aagaggaagc ctgtggctct
     2701 ggcctgggtg tagtgtccat gcagcacgac aggggaaaac ccagcccctt ccctcgccct
     2761 gtcatttcct tcctctcctc ctctgctgag ccaaggaggt ctgggtgtcc tgagagcccc
     2821 agactgagca gtaagaagcc tgagctagca aatgaccact ttagtcaccc cactgtagcc
     2881 tggggacccg gacacatcct gtggccagtg gttggctgtc agggtgggct ttccactgag
     2941 ctgggtaggg cattgcagcc tgctcctctg acactgtagg tgggcttcag ggagctgcct
     3001 gccaaccccc cagcactgtt ctgggccctg ctgagggtga gctccagcct ggcctgttac
     3061 ctccctgcct cagccctcca ctccttggct gagggtgaga gagatgtcat cctcagctgt
     3121 agagggagtg gccgaatgaa gactggttct cgcattaaag gaagtttaat tgtgccaaag
     3181 cc
//
