LOCUS       NM_006795               4453 bp    mRNA    linear   PRI 23-MAR-2024
DEFINITION  Homo sapiens EH domain containing 1 (EHD1), transcript variant 2,
            mRNA.
ACCESSION   NM_006795
VERSION     NM_006795.4
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 4453)
  AUTHORS   Zhang,H., Kong,L., Cao,Z., Zhu,Y., Jiang,Y., Wang,X., Jiang,R.,
            Liu,Y., Zhou,J., Kang,Y., Zhen,X., Kong,N., Wu,M., Yan,G. and
            Sun,H.
  TITLE     EHD1 impaired decidualization of endometrial stromal cells in
            recurrent implantation failure: role of SENP1 in modulating
            progesterone receptor signallingdagger
  JOURNAL   Biol Reprod 110 (3), 536-547 (2024)
   PUBMED   38011671
  REMARK    GeneRIF: EHD1 impaired decidualization of endometrial stromal cells
            in recurrent implantation failure: role of SENP1 in modulating
            progesterone receptor signallingdagger.
REFERENCE   2  (bases 1 to 4453)
  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   3  (bases 1 to 4453)
  AUTHORS   Xie,S., Naslavsky,N. and Caplan,S.
  TITLE     EHD1 promotes CP110 ubiquitination by centriolar satellite delivery
            of HERC2 to the mother centriole
  JOURNAL   EMBO Rep 24 (6), e56317 (2023)
   PUBMED   37074924
  REMARK    GeneRIF: EHD1 promotes CP110 ubiquitination by centriolar satellite
            delivery of HERC2 to the mother centriole.
REFERENCE   4  (bases 1 to 4453)
  AUTHORS   Lu,Y., Wang,W. and Tan,S.
  TITLE     EHD1 promotes the cancer stem cell (CSC)-like traits of glioma
            cells via interacting with CD44 and suppressing CD44 degradation
  JOURNAL   Environ Toxicol 37 (9), 2259-2268 (2022)
   PUBMED   35616188
  REMARK    GeneRIF: EHD1 promotes the cancer stem cell (CSC)-like traits of
            glioma cells via interacting with CD44 and suppressing CD44
            degradation.
REFERENCE   5  (bases 1 to 4453)
  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
  REMARK    GeneRIF: A Founder Mutation in EHD1 Presents with Tubular
            Proteinuria and Deafness.
REFERENCE   6  (bases 1 to 4453)
  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   7  (bases 1 to 4453)
  AUTHORS   Haider,N.B., Searby,C., Galperin,E., Mintz,L., Horowitz,M.,
            Stone,E.M. and Sheffield,V.C.
  TITLE     Evaluation and molecular characterization of EHD1, a candidate gene
            for Bardet-Biedl syndrome 1 (BBS1)
  JOURNAL   Gene 240 (1), 227-232 (1999)
   PUBMED   10564830
REFERENCE   8  (bases 1 to 4453)
  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
REFERENCE   9  (bases 1 to 4453)
  AUTHORS   Di Fiore,P.P., Pelicci,P.G. and Sorkin,A.
  TITLE     EH: a novel protein-protein interaction domain potentially involved
            in intracellular sorting
  JOURNAL   Trends Biochem Sci 22 (11), 411-413 (1997)
   PUBMED   9397678
  REMARK    Review article
REFERENCE   10 (bases 1 to 4453)
  AUTHORS   Guru,S.C., Agarwal,S.K., Manickam,P., Olufemi,S.E., Crabtree,J.S.,
            Weisemann,J.M., Kester,M.B., Kim,Y.S., Wang,Y., Emmert-Buck,M.R.,
            Liotta,L.A., Spiegel,A.M., Boguski,M.S., Roe,B.A., Collins,F.S.,
            Marx,S.J., Burns,L. and Chandrasekharappa,S.C.
  TITLE     A transcript map for the 2.8-Mb region containing the multiple
            endocrine neoplasia type 1 locus
  JOURNAL   Genome Res 7 (7), 725-735 (1997)
   PUBMED   9253601
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001187.5 and KF455404.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006795.3.
            
            Summary: This gene belongs to a highly conserved gene family
            encoding EPS15 homology (EH) domain-containing proteins. The
            protein-binding EH domain was first noted in EPS15, a substrate for
            the epidermal growth factor receptor. The EH domain has been shown
            to be an important motif in proteins involved in protein-protein
            interactions and in intracellular sorting. The protein encoded by
            this gene is thought to play a role in the endocytosis of IGF1
            receptors. Alternatively spliced transcript variants have been
            found for this gene. [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            encodes the same isoform (1), compared to variant 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on 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 :: SRR1803611.137509.1, AF001434.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320631.8/ ENSP00000320516.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-561               AP001187.5         83861-84421         c
            562-659             AP001187.5         80221-80318         c
            660-1072            AP001187.5         65724-66136         c
            1073-1237           AP001187.5         61122-61286         c
            1238-1511           AP001187.5         60384-60657         c
            1512-1908           KF455404.1         1-397               c
            1909-4453           AP001187.5         57442-59986         c
FEATURES             Location/Qualifiers
     source          1..4453
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..4453
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /note="EH domain containing 1"
                     /db_xref="GeneID:10938"
                     /db_xref="HGNC:HGNC:3242"
                     /db_xref="MIM:605888"
     exon            1..561
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..1762
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /note="isoform 1 is encoded by transcript variant 2;
                     testilin; EH domain-containing protein 1; PAST homolog 1"
                     /codon_start=1
                     /product="EH domain-containing protein 1 isoform 1"
                     /protein_id="NP_006786.2"
                     /db_xref="CCDS:CCDS8084.1"
                     /db_xref="GeneID:10938"
                     /db_xref="HGNC:HGNC:3242"
                     /db_xref="MIM:605888"
                     /translation="MFSWVSKDARRKKEPELFQTVAEGLRQLYAQKLLPLEEHYRFHE
                     FHSPALEDADFDNKPMVLLVGQYSTGKTTFIRHLIEQDFPGMRIGPEPTTDSFIAVMH
                     GPTEGVVPGNALVVDPRRPFRKLNAFGNAFLNRFMCAQLPNPVLDSISIIDTPGILSG
                     EKQRISRGYDFAAVLEWFAERVDRIILLFDAHKLDISDEFSEVIKALKNHEDKIRVVL
                     NKADQIETQQLMRVYGALMWSLGKIINTPEVVRVYIGSFWSHPLLIPDNRKLFEAEEQ
                     DLFKDIQSLPRNAALRKLNDLIKRARLAKVHAYIISSLKKEMPNVFGKESKKKELVNN
                     LGEIYQKIEREHQISPGDFPSLRKMQELLQTQDFSKFQALKPKLLDTVDDMLANDIAR
                     LMVMVRQEESLMPSQVVKGGAFDGTMNGPFGHGYGEGAGEGIDDVEWVVGKDKPTYDE
                     IFYTLSPVNGKITGANAKKEMVKSKLPNTVLGKIWKLADVDKDGLLDDEEFALANHLI
                     KVKLEGHELPADLPPHLVPPSKRRHE"
     exon            562..659
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            660..1072
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1237
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..4453
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3340..3345
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /note="hexamer: ATTAAA"
     polyA_site      3359
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /note="major polyA site"
     regulatory      4428..4433
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
                     /note="hexamer: ATTAAA"
     polyA_site      4453
                     /gene="EHD1"
                     /gene_synonym="H-PAST; HPAST1; PAST; PAST1"
ORIGIN      
        1 attcggcaga gggcgcttcg acgggctggg ctgtgcgcct gcgcagtgtg ggtcgctccc
       61 gattccctgc cccggccggc cccgcctcgg ctccgcaccc tcgccccgct ctcagccgcc
      121 gctctgcccc gcagcagcca gccccgtgtc cggcagtatg ttcagctggg tcagcaagga
      181 tgcccgccgc aagaaggagc cggagctctt ccagacggtg gctgaggggc tgcggcagct
      241 gtacgcgcag aagctgctac ccctggagga gcactaccgc ttccacgagt tccactcgcc
      301 cgcgctggag gacgctgact tcgacaacaa gcctatggtg ctcctcgtgg ggcagtacag
      361 cacgggcaag accaccttca tccgacacct gatcgagcag gacttcccgg ggatgcgcat
      421 cgggcccgag cccaccaccg actccttcat cgccgtcatg cacggcccca ctgagggcgt
      481 ggtgccgggc aacgcgctcg tggtggaccc gcggcgcccc ttccgcaagc tcaacgcgtt
      541 tggcaacgct ttcctcaaca ggttcatgtg tgcccagctg cccaaccccg tcctggacag
      601 catcagcatc atcgacaccc ccgggatcct gtctggagag aagcagcgga tcagcagagg
      661 ctatgacttt gcagccgtcc tggagtggtt cgcggagcgt gtggaccgca tcatcctgct
      721 cttcgacgcc cacaagctgg acatctccga tgagttctcg gaagtgatca aggctctgaa
      781 gaaccatgag gacaagatcc gcgtggtgct gaacaaggca gaccagatcg agacgcagca
      841 gctgatgcgg gtgtacgggg ccctcatgtg gtccctgggc aagatcatca acacccccga
      901 ggtggtcagg gtctacatcg gctccttctg gtcccacccg ctcctcatcc ccgacaaccg
      961 caagctcttt gaggccgagg agcaggacct cttcaaggac atccagtcac tgccccgaaa
     1021 cgccgccctc aggaagctca atgacctgat caagcgggca cggctggcca aggttcacgc
     1081 ctacatcatc agctccctca agaaagagat gcccaatgtc tttggtaaag agagcaaaaa
     1141 gaaagagctg gtgaacaacc tcggagagat ctaccagaag attgagcgcg agcaccagat
     1201 ctcccctggg gacttcccga gcctccgcaa gatgcaggaa ctcctgcaga cccaggactt
     1261 cagcaagttc caggcgctga agcccaagct gctggacacg gtggatgaca tgctggccaa
     1321 cgacatcgcg cggctgatgg tgatggtgcg gcaggaggag tccctgatgc cttcccaggt
     1381 ggtcaagggc ggcgcctttg acggcaccat gaacgggccg ttcgggcacg gctacggcga
     1441 gggggccggc gagggcatcg acgacgtgga gtgggtggtg ggcaaggaca agcccaccta
     1501 cgacgagatc ttctacacgc tgtcccctgt caacggcaag atcacgggcg ccaacgccaa
     1561 gaaggagatg gtgaagtcca agctccccaa caccgtgcta gggaagatct ggaagctggc
     1621 cgacgtggac aaggacgggc tgctggacga cgaggagttc gcgctggcca accacctcat
     1681 caaggtcaag ctggagggcc acgagctgcc cgccgacctg cccccgcacc tggtgccgcc
     1741 ctccaagcgc agacatgagt gatggcgccc ggccccgcac ctgccatttg cacgcccggc
     1801 cgggaggcag agacgggggg aggggaagcc tcaccatttc tcaaggtcca taaagactga
     1861 gcggatgttt cctcgcctct cgaaaaggaa aaccaccatc tttcttttaa ggctgttcct
     1921 gggcctggcg ggggaggcag gggtgagagg atggaattgt gtgcacaaga actgtggcta
     1981 ttttaatata taacgttaga ggctgcgttc tttgtcgccg cctcccctgt gtgccagccc
     2041 tgtgtgcacg gcctctgccc cccggccttt gctgtggctg gagctggaca gtgcagcgac
     2101 tgcgaccgtg ggggagccag gtcgcccttt tggcagctgc taggctgagg ctgcatggac
     2161 aggaacacca ggcaccctcc gtgtgcttct gagctgaggt tgcttcacgg gaccgtggct
     2221 tccttcctca cctggctctg cctcccccgt gctctcgggc gaagtgggtt cttgtgcctt
     2281 cccctcccgg gcccaggctc cccgtgcgcg ggccctgccc tttcctcccg cgccccaccg
     2341 gctccgacgc gcaaccccgc tcagcagtca cagaagcagg gcccagccac cttggtcttt
     2401 ttttgggagt tcaggggagt aggagaatgt cttccagaaa aatacataag ctagtttctg
     2461 ttctgtaaag tgatatcttt catacttgac caaagttccc aataacttcc caaccactgt
     2521 tcaaaagctg tgatttttgt ctccccttcc caccctccag ccaaggagca gccctgccca
     2581 gggggcatta ggtgtgggta cccggggagc accccgttcc tggaccccag tgttgcattt
     2641 cctggctgag gaagggtggt catcccagct cctgccctac cctctcactt aactggagct
     2701 ttgggacgca ccctccacag tgggaggtgg tggtgggtgg cggtggcggg gcctcacgac
     2761 agcttggtgc tggtaagagg aagcccgtgg ttctggctag gctctcatgt ccagacagcg
     2821 gggaccaggg gaaaacccag ccccttctgt aatccccctt catttcctac cttccttcct
     2881 cctctgttta gcaaaggagg gcagctcact tggatgtcct tacaacgccc ctggccccca
     2941 ggttgagcaa taagaaacca gaaccttgcg gcccagtggc ccgggccagt tcaggccgcc
     3001 tccccctcct ctgcctgggg ccattgagcc cagcctccag ggcccgggcg cgtttgcagg
     3061 ccagtggcca ctgtccgggc tgtgatggca ccaaggcagg tggagcacca ggtaccacac
     3121 agctgggctt cccaccaggc tttcccgcgg gggtctcagg gagcttctcc ccagcgctgc
     3181 tcggagtctg caggaactgg ccttgttctc cttagcccgt cactccatac agtattaggt
     3241 gaggatggat gcgggcgctg tccttgccgg gaagtcactg ttgaagttgc agtggcttgt
     3301 tcacacctgt gggaagagaa gtgaagactt tctccttgca ttaaaaagtc tgaactgtgc
     3361 gaaagcttcg ggtgcttcct tgtcttttcc aggggcagca gtcctgggcc atcctcccct
     3421 ggtgtctgag ggggtgatgc cagcagggac agagtggcaa ggcagccggg gcaaggtgac
     3481 caaccctgcc cagtcctgct ctgctgggca gtagctgccc cctcctacta agagggccag
     3541 gcctgtaggg aaaagggttt ctggggtgat gcccccttcc ctgagcaagg tgggagctga
     3601 gcagttcact tggggtgggg aggggggaaa cagttgggag gatgttgata gctgaggcct
     3661 aggctggcac ccctcagcca cagacggatg agtgggcacc tgcaggccct cggcactggg
     3721 tggcatcaag taaacaaggg tttctgggct ttggagccag actggctcct tgctagcccc
     3781 aaggacggtt taagtacagg gaagccgggc ctctgaagac aaagcagata gcctgtgaca
     3841 aacatgcaac taagggtggg gccagtcagg cccaggtgat gtcacagatg ggggactgtt
     3901 tataccagca gagggaaggg tgactgatta gtgacccttc ataaaagggt gcagacttga
     3961 ggtgccatgg gtagaggctg ctccagcccc tctggcagaa ggcaggacag aaacaagttc
     4021 ctgagggttt cagggaccca gttgtgtgct ccgagcctag ctggtgtggt ggtgtctggt
     4081 cctatgacca gcacttgagg tgccagtgga tgcttcagtt gctgcagggc tggccggccc
     4141 tccctgcgtc actcagctgc cacctgtggg cattcaccct gtgccaggtg gagctgcgct
     4201 gtcacgatct gaggaagttc atgttccccc atttcacaga gggagagtcc gagactgagg
     4261 actgccgaaa taacaaaggt ggtagaagca gatgcaaacc aggccgtcca actccagcgt
     4321 gctttccatc aggttactaa tccaaagcac acactaagag gaaaaaacgg tagatccccc
     4381 caaccccacc cttagactgc agctgtactc agggctgaga gacccacatt aaaggttaaa
     4441 tgctgtcact cca
//
