LOCUS       NM_001127713            2821 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 3, mRNA.
ACCESSION   NM_001127713
VERSION     NM_001127713.1
KEYWORDS    RefSeq.
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 2821)
  AUTHORS   Hamamie-Chaar,A., Renaud,M., Gencpinar,P., Bruel,A.L., Philippe,C.,
            Maraval,J., Racine,C., Hadouiri,N., Lambert,L., Schmitt,E.,
            Banneau,G., Hocquel,A., Thauvin-Robinet,C., Faivre,L. and Thomas,Q.
  TITLE     Patients with complex and very-early-onset ATL1-related spastic
            paraplegia offer insights on genotype/phenotype correlations and
            support for autosomal recessive forms of SPG3A
  JOURNAL   J Neurol 271 (9), 6343-6348 (2024)
   PUBMED   39003427
  REMARK    GeneRIF: Patients with complex and very-early-onset ATL1-related
            spastic paraplegia offer insights on genotype/phenotype
            correlations and support for autosomal recessive forms of SPG3A.
REFERENCE   2  (bases 1 to 2821)
  AUTHORS   Zlamalova,E., Rodger,C., Greco,F., Cheers,S.R., Kleniuk,J.,
            Nadadhur,A.G., Kadlecova,Z. and Reid,E.
  TITLE     Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis
            in human cortical neurons
  JOURNAL   Neurobiol Dis 199, 106556 (2024)
   PUBMED   38851544
  REMARK    GeneRIF: Atlastin-1 regulates endosomal tubulation and lysosomal
            proteolysis in human cortical neurons.
REFERENCE   3  (bases 1 to 2821)
  AUTHORS   Rashmi,D., Gupta,S., Kausar,T. and Sau,A.K.
  TITLE     Helical domain of hGBP3 cannot stimulate the second phosphate
            cleavage of GTP
  JOURNAL   J Biol Chem 300 (3), 105696 (2024)
   PUBMED   38301888
  REMARK    GeneRIF: Helical domain of hGBP3 cannot stimulate the second
            phosphate cleavage of GTP.
REFERENCE   4  (bases 1 to 2821)
  AUTHORS   Wu,Y.C., Huang,C.S., Hsieh,M.S., Huang,C.M., Setiawan,S.A.,
            Yeh,C.T., Kuo,K.T. and Liu,S.C.
  TITLE     Targeting of FSP1 regulates iron homeostasis in drug-tolerant
            persister head and neck cancer cells via lipid-metabolism-driven
            ferroptosis
  JOURNAL   Aging (Albany NY) 16 (1), 627-647 (2024)
   PUBMED   38206305
  REMARK    GeneRIF: Targeting of FSP1 regulates iron homeostasis in
            drug-tolerant persister head and neck cancer cells via
            lipid-metabolism-driven ferroptosis.
REFERENCE   5  (bases 1 to 2821)
  AUTHORS   Muglia,M., Magariello,A., Nicoletti,G., Patitucci,A.,
            Gabriele,A.L., Conforti,F.L., Mazzei,R., Caracciolo,M., Ardito,B.,
            Lastilla,M., Tedeschi,G. and Quattrone,A.
  TITLE     Further evidence that SPG3A gene mutations cause autosomal dominant
            hereditary spastic paraplegia
  JOURNAL   Ann Neurol 51 (6), 794-795 (2002)
   PUBMED   12112092
  REMARK    GeneRIF: This study reports a novel mutation in the SPG3A gene in a
            family with spastic paraplegia, further confirming that mutations
            in this gene cause autosomal dominant hereditary spastic
            paraplegia.
REFERENCE   6  (bases 1 to 2821)
  AUTHORS   Zhao,X., Alvarado,D., Rainier,S., Lemons,R., Hedera,P., Weber,C.H.,
            Tukel,T., Apak,M., Heiman-Patterson,T., Ming,L., Bui,M. and
            Fink,J.K.
  TITLE     Mutations in a newly identified GTPase gene cause autosomal
            dominant hereditary spastic paraplegia
  JOURNAL   Nat Genet 29 (3), 326-331 (2001)
   PUBMED   11685207
REFERENCE   7  (bases 1 to 2821)
  AUTHORS   Gispert,S., Santos,N., Damen,R., Voit,T., Schulz,J.,
            Klockgether,T., Orozco,G., Kreuz,F., Weissenbach,J. and Auburger,G.
  TITLE     Autosomal dominant familial spastic paraplegia: reduction of the
            FSP1 candidate region on chromosome 14q to 7 cM and locus
            heterogeneity
  JOURNAL   Am J Hum Genet 56 (1), 183-187 (1995)
   PUBMED   7825576
REFERENCE   8  (bases 1 to 2821)
  AUTHORS   Hazan,J., Lamy,C., Melki,J., Munnich,A., de Recondo,J. and
            Weissenbach,J.
  TITLE     Autosomal dominant familial spastic paraplegia is genetically
            heterogeneous and one locus maps to chromosome 14q
  JOURNAL   Nat Genet 5 (2), 163-167 (1993)
   PUBMED   8252041
REFERENCE   9  (bases 1 to 2821)
  AUTHORS   Hedera,P.
  TITLE     Spastic Paraplegia 3A
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20862796
REFERENCE   10 (bases 1 to 2821)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA397302.1, AL833591.1,
            AK290185.1, AK223436.1 and R61338.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a GTPase and a Golgi
            body transmembrane protein. The encoded protein can form a
            homotetramer and has been shown to interact with spastin and with
            mitogen-activated protein kinase kinase kinase kinase 4. This
            protein may be involved in axonal maintenance as evidenced by the
            fact that defects in this gene are a cause of spastic paraplegia
            type 3. Three transcript variants encoding two different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon and differs in the 5' UTR compared to variant 1. The resulting
            isoform (b) has the same N- and C-termini but is shorter compared
            to isoform a. Variants 2 and 3 both encode 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 :: SRR1660805.184614.1, AL833591.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-523               DA397302.1         57-579
            524-2074            AL833591.1         308-1858
            2075-2644           AK290185.1         1819-2388
            2645-2793           AK223436.1         2389-2537
            2794-2821           R61338.1           1-28                c
FEATURES             Location/Qualifiers
     source          1..2821
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     gene            1..2821
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="atlastin GTPase 1"
                     /db_xref="GeneID:51062"
                     /db_xref="HGNC:HGNC:11231"
                     /db_xref="MIM:606439"
     exon            1..286
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            287..459
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     CDS             426..2087
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="isoform b is encoded by transcript variant 3;
                     guanylate-binding protein 3; atlastin-1; GTP-binding
                     protein 3; guanine nucleotide-binding protein 3;
                     brain-specific GTP-binding protein; GBP-3; hGBP3; spastic
                     paraplegia 3 protein A"
                     /codon_start=1
                     /product="atlastin-1 isoform b"
                     /protein_id="NP_001121185.1"
                     /db_xref="CCDS:CCDS32077.1"
                     /db_xref="GeneID:51062"
                     /db_xref="HGNC:HGNC:11231"
                     /db_xref="MIM:606439"
                     /translation="MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDH
                     SFELDETALNRILLSEAVRDKEVVAVSVAGAFRKGKSFLMDFMLRYMYNQESVDWVGD
                     YNEPLTGFSWRGGSERETTGIQIWSEIFLINKPDGKKVAVLLMDTQGTFDSQSTLRDS
                     ATVFALSTMISSIQVYNLSQNVQEDDLQHLQLFTEYGRLAMEETFLKPFQSLIFLVRD
                     WSFPYEFSYGADGGAKFLEKRLKVSGNQHEELQNVRKHIHSCFTNISCFLLPHPGLKV
                     ATNPNFDGKLKEIDDEFIKNLKILIPWLLSPESLDIKEINGNKITCRGLVEYFKAYIK
                     IYQGEELPHPKSMLQATAEANNLAAVATAKDTYNKKMEEICGGDKPFLAPNDLQTKHL
                     QLKEESVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKHNDSKNIFHAARTPAT
                     LFVVIFITYVIAGVTGFIGLDIIASLCNMIMGLTLITLCTWAYIRYSGEYRELGAVID
                     QVAAALWDQALYKLYSAAATHRHLYHQAFPTPKSESTEQSEKKKM"
     exon            460..707
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            708..842
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            843..947
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            948..998
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1055
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1148
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1287
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1415
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..1472
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1544
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1976
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1977..2816
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2401..2406
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="hexamer: ATTAAA"
     polyA_site      2421
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="major polyA site"
     regulatory      2761..2766
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="hexamer: ATTAAA"
     regulatory      2792..2797
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="hexamer: AACAAA"
     polyA_site      2793
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
     polyA_site      2816
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
ORIGIN      
        1 agtttgaggc tgcactgcac acctgcacaa cctgccttct acttagttct tctgagacat
       61 ttctgaaagt ctgaattcct aggactgctc aatgaccttt gtccctgttg ggcacacgca
      121 gtgtctcatc gctggtattg cacctttaat gagaccagga gttccgcaaa agtaaaacaa
      181 aggggtcaca gactggttct ggttctacca cttcctcagt atgtgctctg ggacaaaaca
      241 gcatatttgg caacatctcg gtgtccttat ctgcagcttg aagaggcgcc acagcaacat
      301 cctcagagtc tgagcgaact gcgcccagcg cgggcacgga gcctcccacc gccagcaacc
      361 tgcggccccg gagaaggcag cgagcgcagt gacagcgcct caccgccacc agctcctgga
      421 ccaccatggc caagaaccgc agggacagaa acagttgggg tggattttcg gaaaagacat
      481 atgaatggag ctcagaagag gaggagccag tgaaaaaggc aggaccagtc caagtcctca
      541 ttgtcaaaga tgaccattcc tttgagttag atgaaactgc attaaatcgg atccttctct
      601 cggaggctgt cagagacaag gaggttgttg ctgtatctgt tgctggagca tttagaaaag
      661 gaaaatcatt cctgatggac ttcatgttga gatacatgta caaccaggaa tcagttgatt
      721 gggttggaga ctacaatgaa ccattgactg gtttttcatg gagaggtgga tctgagcgag
      781 agaccacagg aattcagata tggagtgaaa tcttccttat caataaacct gatggtaaaa
      841 aggttgcagt gttattgatg gatactcagg gaacctttga tagtcagtca actttgagag
      901 attcagccac agtatttgcc cttagcacaa tgatcagctc aatacaggta tataacttat
      961 cccaaaatgt ccaggaggat gatcttcagc acctccagct tttcactgag tatggcagac
     1021 tggcaatgga ggaaacattc ctgaagccat ttcagagtct gatatttctt gttcgagact
     1081 ggagtttccc atacgaattt tcatatggag ccgatggtgg tgccaaattc ttggaaaaac
     1141 gcctcaaggt ctcagggaac cagcatgaag aactacagaa cgtcagaaaa cacatccatt
     1201 cctgtttcac caacatttcc tgttttctgc tacctcatcc tggcttaaaa gtagctacca
     1261 atccaaactt tgatggaaaa ttgaaagaaa tagatgatga attcatcaaa aacttgaaaa
     1321 tactgattcc ttggctactt agtcccgaga gcctagatat taaagagatc aatgggaata
     1381 aaatcacctg ccggggtctg gtggagtact tcaaggctta tataaagatc tatcaaggtg
     1441 aagaattacc acatcccaaa tccatgttac aggccacagc agaagctaac aatttagcag
     1501 ccgtggcaac tgccaaggac acatacaaca aaaaaatgga agagatttgt ggtggtgaca
     1561 aaccatttct ggccccaaat gacttgcaga ccaaacacct gcaacttaag gaagaatctg
     1621 tgaagctatt ccgaggggtg aagaagatgg gtggggaaga atttagccgg cgttacctgc
     1681 agcagttgga gagtgaaata gatgaacttt acatccaata tatcaagcac aatgatagca
     1741 aaaatatctt ccatgcagct cgtaccccag ccacactgtt tgtagtcatc tttatcacat
     1801 atgtgattgc tggtgtgact ggattcattg gtttggacat catagctagc ctatgcaata
     1861 tgataatggg actgaccctt atcaccctgt gcacttgggc atatatccgg tactctggag
     1921 aataccgaga gctgggagct gtaatagacc aggtggctgc agctctgtgg gaccaggctt
     1981 tgtacaagct ttacagtgca gcagcaaccc acagacatct gtatcatcaa gctttcccta
     2041 caccaaagtc ggaatctact gaacaatcag aaaagaaaaa aatgtaatgc aaattttaag
     2101 aaatacaggt gcatgaccaa ttgtcaatta aatattcagt tttatgtctc catgcaaaca
     2161 ttcaaagtgc ttccatcaga acggagtaaa atactaaaca cctctgaaga ctgcaaactg
     2221 gattagttct tttacttcag tgtttaataa gcagatgtat gtatgcatgg ttatactatt
     2281 ttgttaacat gtacaatttc ctgatttttc ttcaaaaatg ctgttataaa gtatttgtct
     2341 atttatgata acagtacacg tgttctgctt gaatttacta aattctacta ctgggttata
     2401 attaaatcat gtgatattcc acgtttggat atgctcattt aatttctaca gaaaaaattt
     2461 taaattattt cacattagcc atttgttaaa acacagcatc ataactcagc aggctggatt
     2521 taatctgtat catcttatat atatcacaat cttattttta agcacatttt agagttcctt
     2581 agttgcttta tcaaaaacca gatattgctt ttacatggtt taatagaata taaacctctt
     2641 gataaaaaat gcacaaaaaa tcactttgta tatgtgagtt tcactgcatt gtatattttt
     2701 tcatttggta cacaaagaat gtattcttca taggtttatt cttttaatat gtgaactatt
     2761 attaaagttt actctggttc ctaagattaa aaacaaatgc ttactgaatt tgaaaaaaaa
     2821 a
//
