LOCUS       NM_001127890            1718 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens SPG21 abhydrolase domain containing, maspardin
            (SPG21), transcript variant 3, mRNA.
ACCESSION   NM_001127890
VERSION     NM_001127890.5
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 1718)
  AUTHORS   Zhou,P., Yao,W., Liu,L., Yan,Q., Chen,X., Wei,X., Ding,S., Lv,Z.
            and Zhu,F.
  TITLE     SPG21, a potential oncogene targeted by miR-128-3p, amplifies
            HBx-induced carcinogenesis and chemoresistance via activation of
            TRPM7-mediated JNK pathway in hepatocellular carcinoma
  JOURNAL   Cell Oncol (Dordr) 47 (5), 1757-1778 (2024)
   PUBMED   38753154
  REMARK    GeneRIF: SPG21, a potential oncogene targeted by miR-128-3p,
            amplifies HBx-induced carcinogenesis and chemoresistance via
            activation of TRPM7-mediated JNK pathway in hepatocellular
            carcinoma.
REFERENCE   2  (bases 1 to 1718)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1718)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1718)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1718)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 1718)
  AUTHORS   Hanna,M.C. and Blackstone,C.
  TITLE     Interaction of the SPG21 protein ACP33/maspardin with the aldehyde
            dehydrogenase ALDH16A1
  JOURNAL   Neurogenetics 10 (3), 217-228 (2009)
   PUBMED   19184135
  REMARK    GeneRIF: Data report that maspardin localizes prominently to
            cytoplasm as well as to membranes, possibly at trans-Golgi
            network/late endosomal compartments, and that maspardin interacts
            with the aldehyde dehydrogenase ALDH16A1.
REFERENCE   7  (bases 1 to 1718)
  AUTHORS   Simpson,M.A., Cross,H., Proukakis,C., Pryde,A., Hershberger,R.,
            Chatonnet,A., Patton,M.A. and Crosby,A.H.
  TITLE     Maspardin is mutated in mast syndrome, a complicated form of
            hereditary spastic paraplegia associated with dementia
  JOURNAL   Am J Hum Genet 73 (5), 1147-1156 (2003)
   PUBMED   14564668
  REMARK    GeneRIF: frameshift results in the premature termination of the
            encoded product, which is designated 'maspardin' (Mast syndrome,
            spastic paraplegia, autosomal recessive with dementia)
REFERENCE   8  (bases 1 to 1718)
  AUTHORS   Zeitlmann,L., Sirim,P., Kremmer,E. and Kolanus,W.
  TITLE     Cloning of ACP33 as a novel intracellular ligand of CD4
  JOURNAL   J Biol Chem 276 (12), 9123-9132 (2001)
   PUBMED   11113139
REFERENCE   9  (bases 1 to 1718)
  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
REFERENCE   10 (bases 1 to 1718)
  AUTHORS   Cross,H.E. and McKusick,V.A.
  TITLE     The mast syndrome. A recessively inherited form of presenile
            dementia with motor disturbances
  JOURNAL   Arch Neurol 16 (1), 1-13 (1967)
   PUBMED   6024251
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP268459.1, AK301362.1,
            BC000244.1, BI259651.1 and AI161152.1.
            
            On May 31, 2019 this sequence version replaced NM_001127890.4.
            
            Summary: The protein encoded by this gene binds to the hydrophobic
            C-terminal amino acids of CD4 which are involved in repression of T
            cell activation. The interaction with CD4 is mediated by the
            noncatalytic alpha/beta hydrolase fold domain of this protein. It
            is thus proposed that this gene product modulates the stimulatory
            activity of CD4. Mutations in this gene are associated with
            autosomal recessive spastic paraplegia 21 (SPG21), also known as
            mast syndrome. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2014].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. The resulting
            isoform (b) lacks an internal segment and is shorter, compared to
            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 :: AK301362.1, SRR7346977.98287.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                BP268459.1         26-87
            63-392              AK301362.1         60-389
            393-447             BC000244.1         295-349
            448-1194            AK301362.1         445-1191
            1195-1717           BI259651.1         157-679
            1718-1718           AI161152.1         9-9                 c
FEATURES             Location/Qualifiers
     source          1..1718
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..1718
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /note="SPG21 abhydrolase domain containing, maspardin"
                     /db_xref="GeneID:51324"
                     /db_xref="HGNC:HGNC:20373"
                     /db_xref="MIM:608181"
     exon            1..250
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            251..337
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..1120
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /note="isoform b is encoded by transcript variant 3; acid
                     cluster protein 33; spastic paraplegia 21 (autosomal
                     recessive, Mast syndrome); maspardin; SPG21, maspardin"
                     /codon_start=1
                     /product="maspardin isoform b"
                     /protein_id="NP_001121362.1"
                     /db_xref="CCDS:CCDS45279.1"
                     /db_xref="GeneID:51324"
                     /db_xref="HGNC:HGNC:20373"
                     /db_xref="MIM:608181"
                     /translation="MGEIKVSPDYNWFRGTVPLKKIIVDDDDSKIWSLYDAGPRSIRC
                     PLIFLPPVSGTADVFFRQILALTGWGYRVIAVHLFGASLGGFLAQKFAEYTHKSPRVH
                     SLILCNSFSDTSIFNQTWTANSFWLMPAFMLKKIVLGNFSSGPVDPMMADAIDFMVDR
                     LESLGQSELASRLTLNCQNSYVEPHKIRDIPVTIMDVFDQSALSTEAKEEMYKLYPNA
                     RRAHLKTGGNFPYLCRSAEVNLYVQIHLLQFHGTKYAAIDPSMVSAEELEVQKGSLGI
                     SQEEQ"
     exon            338..499
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            500..645
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            646..754
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            755..862
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1003
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1718
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1697..1702
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /note="hexamer: AATAAA"
     polyA_site      1718
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /note="major polyA site"
ORIGIN      
        1 gggagtctcg cgccagctga gcggcggtcg ggcgggggga gcgcggcggc ccaagctcgc
       61 tcggccacgc gccccgcccc ctcagaggcc ggcctcccgc acgcaccgcg cagcctgctg
      121 tgcccgtggg tcccgagtgc tccgccgccc gccccgaccc gggcccagcc gcctccacgg
      181 cccgcgctcg tactggagcg aagagcggcc tcctgaagga ggggaaggga cgtgggggcg
      241 gccacggcag gattaacctc catttcagct aatcatggga gagattaaag tctctcctga
      301 ttataactgg tttagaggta cagttcccct taaaaagatt attgtggatg atgatgacag
      361 taagatatgg tcgctctatg acgcgggccc ccgaagtatc aggtgtcctc tcatattcct
      421 gccccctgtc agtggaactg cagatgtctt tttccggcag attttggctc tgactggatg
      481 gggttaccgg gttatcgctg ttcatctttt tggcgcttct ttgggaggct ttttggccca
      541 gaaatttgct gaatacactc acaaatctcc tagagtccat tccctaatcc tctgcaattc
      601 cttcagtgac acctctatct tcaaccaaac ttggactgca aacagctttt ggctgatgcc
      661 tgcatttatg ctcaaaaaaa tagttcttgg aaatttttca tctggcccgg tggaccctat
      721 gatggctgat gccattgatt tcatggtaga caggctagaa agtttgggtc agagtgaact
      781 ggcttcaaga cttaccttga attgtcaaaa ttcttatgtg gaacctcata aaattcggga
      841 catacctgta actattatgg atgtgtttga tcagagtgcg ctttcaactg aagctaaaga
      901 agaaatgtac aagctgtatc ctaatgcccg aagagctcat ctgaaaacag gaggcaattt
      961 cccatacctg tgcagaagtg cagaggtcaa tctttatgta cagatacatt tgctgcaatt
     1021 ccatggaacc aaatacgcgg ccattgaccc atcaatggtc agtgccgagg agcttgaggt
     1081 gcagaaaggc agccttggca tcagccagga ggagcagtag tgtgtctctc gctgtcaatg
     1141 atgagttgac ccggtgtgtt cttgtatagt cagtggcatc agcacccgtc agccagcctt
     1201 ttccttcagg ttcgtcaggc tcaccggttc tcactgtgtc tgggaagtag gactgatggt
     1261 catcttcatg acaggcggca tctccactaa gcctgtgtaa ctgttccctc tttggttttc
     1321 ttagcttttg aatttgaaga agtacttttg aagactccca ttttaagaac cgtgcaaatt
     1381 ttgctaccaa aagtcttcac cactgtgttc ttaagtgaat gttaatttct gaggtttggg
     1441 actttgtggt ggtttttttc ttcttttctt ttccattctt ctttctttct ttttatgttg
     1501 tttgctgtaa atgctgcaca tccagattgc atatcaggac attggttatt ttatgctttc
     1561 ttggatataa ccatgatcag agtgccatgg ccactacccc actgtttgct ctcctgcaaa
     1621 tcaactgctt ttaatttaca cttaaacaaa ttgttttgag tgttagctac tgcctttcta
     1681 gatattagtc atttggaata aaaattcaat ttaactga
//
