LOCUS       NM_016630               1799 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens SPG21 abhydrolase domain containing, maspardin
            (SPG21), transcript variant 1, mRNA.
ACCESSION   NM_016630 XM_942000 XM_945607 XM_945608 XM_945610 XM_945611
            XM_945612 XM_945613 XM_945615 XM_945617 XM_945619 XM_945622
VERSION     NM_016630.7
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 1799)
  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 1799)
  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 1799)
  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 1799)
  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 1799)
  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 1799)
  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 1799)
  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 1799)
  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 1799)
  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 1799)
  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, BC000244.1,
            BI259651.1 and AI161152.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016630.6.
            
            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 (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1 and 2
            encode the same 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 :: SRR3476690.204367.1,
                                           SRR3476690.385392.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000204566.7/ ENSP00000204566.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-98                BP268459.1         26-123
            99-1275             BC000244.1         1-1177
            1276-1798           BI259651.1         157-679
            1799-1799           AI161152.1         9-9                 c
FEATURES             Location/Qualifiers
     source          1..1799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..1799
                     /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..1201
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /note="isoform a is encoded by transcript variant 1; acid
                     cluster protein 33; spastic paraplegia 21 (autosomal
                     recessive, Mast syndrome); maspardin; SPG21, maspardin"
                     /codon_start=1
                     /product="maspardin isoform a"
                     /protein_id="NP_057714.1"
                     /db_xref="CCDS:CCDS10198.1"
                     /db_xref="GeneID:51324"
                     /db_xref="HGNC:HGNC:20373"
                     /db_xref="MIM:608181"
                     /translation="MGEIKVSPDYNWFRGTVPLKKIIVDDDDSKIWSLYDAGPRSIRC
                     PLIFLPPVSGTADVFFRQILALTGWGYRVIALQYPVYWDHLEFCDGFRKLLDHLQLDK
                     VHLFGASLGGFLAQKFAEYTHKSPRVHSLILCNSFSDTSIFNQTWTANSFWLMPAFML
                     KKIVLGNFSSGPVDPMMADAIDFMVDRLESLGQSELASRLTLNCQNSYVEPHKIRDIP
                     VTIMDVFDQSALSTEAKEEMYKLYPNARRAHLKTGGNFPYLCRSAEVNLYVQIHLLQF
                     HGTKYAAIDPSMVSAEELEVQKGSLGISQEEQ"
     exon            338..499
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            500..580
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            581..726
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            727..835
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            836..943
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1084
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1799
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1778..1783
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPG21"
                     /gene_synonym="ABHD21; ACP33; BM-019; GL010; MAST"
                     /note="hexamer: AATAAA"
     polyA_site      1799
                     /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 gttatcgctt tgcagtatcc agtttattgg gaccatctcg agttctgtga
      541 tggattcaga aaacttttag accatttaca attggataaa gttcatcttt ttggcgcttc
      601 tttgggaggc tttttggccc agaaatttgc tgaatacact cacaaatctc ctagagtcca
      661 ttccctaatc ctctgcaatt ccttcagtga cacctctatc ttcaaccaaa cttggactgc
      721 aaacagcttt tggctgatgc ctgcatttat gctcaaaaaa atagttcttg gaaatttttc
      781 atctggcccg gtggacccta tgatggctga tgccattgat ttcatggtag acaggctaga
      841 aagtttgggt cagagtgaac tggcttcaag acttaccttg aattgtcaaa attcttatgt
      901 ggaacctcat aaaattcggg acatacctgt aactattatg gatgtgtttg atcagagtgc
      961 gctttcaact gaagctaaag aagaaatgta caagctgtat cctaatgccc gaagagctca
     1021 tctgaaaaca ggaggcaatt tcccatacct gtgcagaagt gcagaggtca atctttatgt
     1081 acagatacat ttgctgcaat tccatggaac caaatacgcg gccattgacc catcaatggt
     1141 cagtgccgag gagcttgagg tgcagaaagg cagccttggc atcagccagg aggagcagta
     1201 gtgtgtctct cgctgtcaat gatgagttga cccggtgtgt tcttgtatag tcagtggcat
     1261 cagcacccgt cagccagcct tttccttcag gttcgtcagg ctcaccggtt ctcactgtgt
     1321 ctgggaagta ggactgatgg tcatcttcat gacaggcggc atctccacta agcctgtgta
     1381 actgttccct ctttggtttt cttagctttt gaatttgaag aagtactttt gaagactccc
     1441 attttaagaa ccgtgcaaat tttgctacca aaagtcttca ccactgtgtt cttaagtgaa
     1501 tgttaatttc tgaggtttgg gactttgtgg tggttttttt cttcttttct tttccattct
     1561 tctttctttc tttttatgtt gtttgctgta aatgctgcac atccagattg catatcagga
     1621 cattggttat tttatgcttt cttggatata accatgatca gagtgccatg gccactaccc
     1681 cactgtttgc tctcctgcaa atcaactgct tttaatttac acttaaacaa attgttttga
     1741 gtgttagcta ctgcctttct agatattagt catttggaat aaaaattcaa tttaactga
//
