LOCUS       NM_015915               2504 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.
ACCESSION   NM_015915
VERSION     NM_015915.5
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 2504)
  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 2504)
  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 2504)
  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 2504)
  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 2504)
  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 2504)
  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 2504)
  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 2504)
  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 2504)
  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 2504)
  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 DA088230.1, AK290185.1 and
            AK223436.1.
            
            On Nov 20, 2019 this sequence version replaced NM_015915.4.
            
            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 (1) encodes the longer isoform
            (a).
            
            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 :: AK223436.1, AK290185.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358385.12/ ENSP00000351155.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-167               DA088230.1         121-287
            168-2355            AK290185.1         201-2388
            2356-2504           AK223436.1         2389-2537
FEATURES             Location/Qualifiers
     source          1..2504
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     gene            1..2504
                     /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..155
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..1798
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="isoform a is encoded by transcript variant 1;
                     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 a"
                     /protein_id="NP_056999.2"
                     /db_xref="CCDS:CCDS9700.1"
                     /db_xref="GeneID:51062"
                     /db_xref="HGNC:HGNC:11231"
                     /db_xref="MIM:606439"
                     /translation="MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDH
                     SFELDETALNRILLSEAVRDKEVVAVSVAGAFRKGKSFLMDFMLRYMYNQESVDWVGD
                     YNEPLTGFSWRGGSERETTGIQIWSEIFLINKPDGKKVAVLLMDTQGTFDSQSTLRDS
                     ATVFALSTMISSIQVYNLSQNVQEDDLQHLQLFTEYGRLAMEETFLKPFQSLIFLVRD
                     WSFPYEFSYGADGGAKFLEKRLKVSGNQHEELQNVRKHIHSCFTNISCFLLPHPGLKV
                     ATNPNFDGKLKEIDDEFIKNLKILIPWLLSPESLDIKEINGNKITCRGLVEYFKAYIK
                     IYQGEELPHPKSMLQATAEANNLAAVATAKDTYNKKMEEICGGDKPFLAPNDLQTKHL
                     QLKEESVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKHNDSKNIFHAARTPAT
                     LFVVIFITYVIAGVTGFIGLDIIASLCNMIMGLTLITLCTWAYIRYSGEYRELGAVID
                     QVAAALWDQGSTNEALYKLYSAAATHRHLYHQAFPTPKSESTEQSEKKKM"
     exon            156..403
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            404..538
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            539..643
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            644..694
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            695..751
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            752..844
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            845..983
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1111
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1168
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1240
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1672
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1673..1687
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..2504
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2112..2117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="hexamer: ATTAAA"
     polyA_site      2132
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="major polyA site"
     regulatory      2472..2477
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
                     /note="hexamer: ATTAAA"
     polyA_site      2504
                     /gene="ATL1"
                     /gene_synonym="AD-FSP; atlastin1; FSP1; GBP3; HSN1D; SPG3;
                     SPG3A"
ORIGIN      
        1 agagtctgag cgaactgcgc ccagcgcggg cacggagcct cccaccgcca gcaacctgcg
       61 gccccggaga aggcagcgag cgcagtgaca gcgcctcacc gccaccagct cctggaccac
      121 catggccaag aaccgcaggg acagaaacag ttggggtgga ttttcggaaa agacatatga
      181 atggagctca gaagaggagg agccagtgaa aaaggcagga ccagtccaag tcctcattgt
      241 caaagatgac cattcctttg agttagatga aactgcatta aatcggatcc ttctctcgga
      301 ggctgtcaga gacaaggagg ttgttgctgt atctgttgct ggagcattta gaaaaggaaa
      361 atcattcctg atggacttca tgttgagata catgtacaac caggaatcag ttgattgggt
      421 tggagactac aatgaaccat tgactggttt ttcatggaga ggtggatctg agcgagagac
      481 cacaggaatt cagatatgga gtgaaatctt ccttatcaat aaacctgatg gtaaaaaggt
      541 tgcagtgtta ttgatggata ctcagggaac ctttgatagt cagtcaactt tgagagattc
      601 agccacagta tttgccctta gcacaatgat cagctcaata caggtatata acttatccca
      661 aaatgtccag gaggatgatc ttcagcacct ccagcttttc actgagtatg gcagactggc
      721 aatggaggaa acattcctga agccatttca gagtctgata tttcttgttc gagactggag
      781 tttcccatac gaattttcat atggagccga tggtggtgcc aaattcttgg aaaaacgcct
      841 caaggtctca gggaaccagc atgaagaact acagaacgtc agaaaacaca tccattcctg
      901 tttcaccaac atttcctgtt ttctgctacc tcatcctggc ttaaaagtag ctaccaatcc
      961 aaactttgat ggaaaattga aagaaataga tgatgaattc atcaaaaact tgaaaatact
     1021 gattccttgg ctacttagtc ccgagagcct agatattaaa gagatcaatg ggaataaaat
     1081 cacctgccgg ggtctggtgg agtacttcaa ggcttatata aagatctatc aaggtgaaga
     1141 attaccacat cccaaatcca tgttacaggc cacagcagaa gctaacaatt tagcagccgt
     1201 ggcaactgcc aaggacacat acaacaaaaa aatggaagag atttgtggtg gtgacaaacc
     1261 atttctggcc ccaaatgact tgcagaccaa acacctgcaa cttaaggaag aatctgtgaa
     1321 gctattccga ggggtgaaga agatgggtgg ggaagaattt agccggcgtt acctgcagca
     1381 gttggagagt gaaatagatg aactttacat ccaatatatc aagcacaatg atagcaaaaa
     1441 tatcttccat gcagctcgta ccccagccac actgtttgta gtcatcttta tcacatatgt
     1501 gattgctggt gtgactggat tcattggttt ggacatcata gctagcctat gcaatatgat
     1561 aatgggactg acccttatca ccctgtgcac ttgggcatat atccggtact ctggagaata
     1621 ccgagagctg ggagctgtaa tagaccaggt ggctgcagct ctgtgggacc agggaagtac
     1681 aaatgaggct ttgtacaagc tttacagtgc agcagcaacc cacagacatc tgtatcatca
     1741 agctttccct acaccaaagt cggaatctac tgaacaatca gaaaagaaaa aaatgtaatg
     1801 caaattttaa gaaatacagg tgcatgacca attgtcaatt aaatattcag ttttatgtct
     1861 ccatgcaaac attcaaagtg cttccatcag aacggagtaa aatactaaac acctctgaag
     1921 actgcaaact ggattagttc ttttacttca gtgtttaata agcagatgta tgtatgcatg
     1981 gttatactat tttgttaaca tgtacaattt cctgattttt cttcaaaaat gctgttataa
     2041 agtatttgtc tatttatgat aacagtacac gtgttctgct tgaatttact aaattctact
     2101 actgggttat aattaaatca tgtgatattc cacgtttgga tatgctcatt taatttctac
     2161 agaaaaaatt ttaaattatt tcacattagc catttgttaa aacacagcat cataactcag
     2221 caggctggat ttaatctgta tcatcttata tatatcacaa tcttattttt aagcacattt
     2281 tagagttcct tagttgcttt atcaaaaacc agatattgct tttacatggt ttaatagaat
     2341 ataaacctct tgataaaaaa tgcacaaaaa atcactttgt atatgtgagt ttcactgcat
     2401 tgtatatttt ttcatttggt acacaaagaa tgtattcttc ataggtttat tcttttaata
     2461 tgtgaactat tattaaagtt tactctggtt cctaagatta aaaa
//
