LOCUS       NM_147129               4913 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 1,
            mRNA.
ACCESSION   NM_147129 XM_351548
VERSION     NM_147129.5
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 4913)
  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   2  (bases 1 to 4913)
  AUTHORS   Jouan,L., Girard,S.L., Dobrzeniecka,S., Ambalavanan,A., Krebs,M.O.,
            Joober,R., Gauthier,J., Dion,P.A. and Rouleau,G.A.
  TITLE     Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480
            genes in schizophrenia patients reflects genetic heterogeneity of
            the disease
  JOURNAL   Behav Brain Funct 9, 9 (2013)
   PUBMED   23425335
  REMARK    GeneRIF: This supports the notion that de novo mutations in ALS2CL
            are extremely rare in schizophrenia
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4913)
  AUTHORS   Lee,D.J., Schonleben,F., Banuchi,V.E., Qiu,W., Close,L.G.,
            Assaad,A.M. and Su,G.H.
  TITLE     Multiple tumor-suppressor genes on chromosome 3p contribute to head
            and neck squamous cell carcinoma tumorigenesis
  JOURNAL   Cancer Biol Ther 10 (7), 689-693 (2010)
   PUBMED   20657180
  REMARK    GeneRIF: Data provide further support that ALS2CL, EPHA3, and CMYA1
            are bona-fide tumor-suppressor genes and contribute to the
            tumorigenesis of HNSCC.
REFERENCE   4  (bases 1 to 4913)
  AUTHORS   Suzuki-Utsunomiya,K., Hadano,S., Otomo,A., Kunita,R., Mizumura,H.,
            Osuga,H. and Ikeda,J.E.
  TITLE     ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome
            dynamics
  JOURNAL   Biochem Biophys Res Commun 354 (2), 491-497 (2007)
   PUBMED   17239822
  REMARK    GeneRIF: ALS2CL is a novel ALS2-interacting protein implicated in
            ALS2-mediated endosome dynamics.
REFERENCE   5  (bases 1 to 4913)
  AUTHORS   Hadano,S., Otomo,A., Suzuki-Utsunomiya,K., Kunita,R.,
            Yanagisawa,Y., Showguchi-Miyata,J., Mizumura,H. and Ikeda,J.E.
  TITLE     ALS2CL, the novel protein highly homologous to the carboxy-terminal
            half of ALS2, binds to Rab5 and modulates endosome dynamics
  JOURNAL   FEBS Lett 575 (1-3), 64-70 (2004)
   PUBMED   15388334
  REMARK    GeneRIF: These results suggest that amyotrophic lateral sclerosis 2
            C-terminal like (ALS2CL), a novel ALS2 homologue, modulates
            Rab5-mediated endosome dynamics in HeLa cells.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB107015.1, AC134504.2, AK126505.1 and DB350037.1.
            
            On Nov 23, 2018 this sequence version replaced NM_147129.4.
            
            Transcript Variant: This variant (1) encodes the same isoform (1)
            as variant 2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB107015.1, SRR1803616.104285.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318962.9/ ENSP00000313670.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1204              AB107015.1         23-1226
            1205-1205           AC134504.2         73693-73693
            1206-3547           AB107015.1         1228-3569
            3548-4911           AK126505.1         3252-4615
            4912-4913           DB350037.1         1-2                 c
FEATURES             Location/Qualifiers
     source          1..4913
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..4913
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /note="ALS2 C-terminal like"
                     /db_xref="GeneID:259173"
                     /db_xref="HGNC:HGNC:20605"
                     /db_xref="MIM:612402"
     exon            1..37
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            38..165
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..2924
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /note="isoform 1 is encoded by transcript variant 1; ALS2
                     C-terminal-like protein"
                     /codon_start=1
                     /product="ALS2 C-terminal-like protein isoform 1"
                     /protein_id="NP_667340.2"
                     /db_xref="CCDS:CCDS2743.1"
                     /db_xref="GeneID:259173"
                     /db_xref="HGNC:HGNC:20605"
                     /db_xref="MIM:612402"
                     /translation="MCNPEEAALLRLEEVFSATLAHVNSLVLQPLLPAAPDPSDPWGR
                     ECLRLLQQLHKSSQQLWEVTEESLHSLQERLRYPDSTGLESLLLLRGADRVLQAHIEY
                     IESYTSCMVVQAFQKAAKRRSEYWRGQRKALRQLLSGVSSEGSVGASLGQALHQPLAH
                     HVQQYVLLLLSLGDTIGEHHPTRELVVNAVTLFGNLQSFMKQELDQAVATQALWHTLR
                     GRLRDVLCTPAHRLLQDSQDVPVTVAPLRAERVLLFDDALVLLQGHNVHTFDLKLVWV
                     DPGQDGCTFHLLTPEEEFSFCAKDSQGQAVWQWKVTWAVHQALHGKKDFPVLGAGLEP
                     SQPPDCRCAEYTFQAEGRLCQATYEGEWCRGRPHGKGTLKWPDGRNHVGNFCQGLEHG
                     FGIRLLPQASEDKFDCYKCHWREGSMCGYGICEYSTDEVYKGYFQEGLRHGFGVLESG
                     PQAPQPFRYTGHWERGQRSGYGIEEDGDRGERYIGMWQAGQRHGPGVMVTQAGVCYQG
                     TFQADKTVGPGILLSEDDSLYEGTFTRDLTLMGKGKVTFPNGFTLEGSFGSGAGRGLH
                     TQGVLDTAALPPDPSSTCKRQLGVGAFPVESRWQGVYSPFRDFVCAGCPRDLQEALLG
                     FDVQSSRELRRSQDYLSCERTHPEDSVGSMEDILEELLQHREPKALQLYLRKALSNSL
                     HPLGKLLRTLMLTFQATYAGVGANKHLQELAQEEVKQHAQELWAAYRGLLRVALERKG
                     QALEEDEDTETRDLQVHGLVLPLMLPSFYSELFTLYLLLHEREDSFYSQGIANLSLFP
                     DTQLLEFLDVQKHLWPLKDLTLTSNQRYSLVRDKCFLSATECLQKIMTTVDPREKLEV
                     LERTYGEIEGTVSRVLGREYKLPMDDLLPLLIYVVSRARIQHLGAEIHLIRDMMDPNH
                     TGGLYDFLLTALESCYEHIQKEDMRLHRLPGHWHSRELW"
     exon            166..364
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            365..430
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            431..596
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            597..728
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            729..848
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            849..907
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            908..974
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1171
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1237
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1336
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..1498
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            1499..1610
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1688
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1819
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            1820..1993
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            1994..2090
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            2091..2248
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            2249..2317
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            2318..2491
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            2492..2534
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            2535..2596
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            2597..2746
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            2747..2843
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     exon            2844..4913
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3606..3611
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /note="hexamer: AATAAA"
     polyA_site      3626
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /note="major polyA site"
     regulatory      4701..4706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /note="hexamer: AATAAA"
     polyA_site      4719
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /note="major polyA site"
     regulatory      4889..4894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
                     /note="hexamer: AATAAA"
     polyA_site      4913
                     /gene="ALS2CL"
                     /gene_synonym="RN49018"
ORIGIN      
        1 acaggcagtc ccggcgcggg gcaaccacag cgctcaggag gccctgagtc cggcacctgg
       61 ccatgtgcaa ccctgaggag gcagctctgc tgcggctgga ggaggtcttc tcagccaccc
      121 tcgcccatgt caacagcctt gtcctccagc ccctgctccc agccgcccca gatccctcgg
      181 atccctgggg cagagagtgc ctgcggctct tgcaacagct gcacaagagc tcccagcaac
      241 tctgggaggt gacggaggaa agcctgcact cactgcagga gaggctgcgt tacccggact
      301 ccaccggtct ggagtccctg ctgctgctgc gaggtgctga ccgtgtactg caggcccaca
      361 tagagtacat tgagtcctac acaagctgca tggtggtgca ggccttccag aaggcagcaa
      421 agaggagaag cgagtactgg cggggccagc ggaaggcgct gcggcagctg ctttcaggtg
      481 tgagctcaga gggctcggtg ggcgcatcgc tgggccaggc cctccaccag ccactcgccc
      541 atcacgtgca acagtacgtg ctcctcctgc tgagcctcgg ggacaccatt ggggagcatc
      601 acccaacccg ggagctggtg gtgaacgcag tcaccctctt tgggaacctg cagtccttca
      661 tgaagcagga gttggaccag gctgtggcca cacaggctct ctggcacacc ctgagaggcc
      721 ggctgaggga tgtgctctgc acccctgctc acagactcct tcaggacagc caggacgtac
      781 ccgtgacggt cgcaccgttg cgggctgagc gtgtgctgct ctttgatgat gccctcgtcc
      841 tgctgcaggg ccacaatgtc cacacctttg atctgaagct ggtgtgggtg gatcctgggc
      901 aggacgggtg cacgtttcac ctcctcacgc ccgaagaaga gttctccttt tgtgccaagg
      961 actcccaggg ccaggcagtc tggcagtgga aggtgacctg ggctgttcac caggccctgc
     1021 atgggaagaa ggacttcccc gtgctggggg ctggcctgga gccctcccag cctcccgact
     1081 gccgctgcgc agaatatacc ttccaggcag agggccggct ctgccaggcc acctacgagg
     1141 gcgagtggtg caggggccgg ccccacggca agggaaccct gaaatggccg gatgggcgga
     1201 atcacgtggg gaatttctgc cagggcctgg agcatggctt cggcatccgc ctgctgcccc
     1261 aggcctctga ggacaagttc gactgttaca agtgtcactg gcgagaaggc agcatgtgtg
     1321 gctacggcat ctgtgagtac agcaccgacg aggtgtacaa gggctacttc caggagggcc
     1381 tgcggcacgg atttggggtc cttgagagtg gtccgcaggc cccccagccc ttcaggtaca
     1441 cgggccactg ggagaggggc cagaggagcg gctatggcat tgaggaggat ggtgacagag
     1501 gtgagcgcta cattggcatg tggcaggctg gtcagcgcca cggcccaggg gtcatggtca
     1561 cccaggcagg tgtctgctac cagggcacct tccaggcgga caagacggtg ggcccgggca
     1621 tcctcctctc tgaagacgac tccctgtatg agggcacctt caccagggac ctgaccctca
     1681 tggggaaggg caaggtcacc ttccccaatg gcttcaccct ggagggctcg ttcggcagtg
     1741 gggcagggag aggactgcac acacagggtg tgctggacac ggctgccctc ccaccagacc
     1801 cgagcagtac ctgcaagagg cagctgggcg tgggtgcctt ccccgtggaa agccgctggc
     1861 agggagtcta cagccccttc cgggactttg tgtgtgctgg ctgccccagg gacctgcagg
     1921 aggccctgct gggcttcgac gtgcagagct ccagggagct gcgtaggtct caggattacc
     1981 tgtcctgcga gaggacccac cctgaggaca gtgtgggcag tatggaagac atcctggagg
     2041 agctgctgca gcaccgggag cccaaggccc tgcagctgta cctcaggaag gctctgagca
     2101 actcactgca ccccctggga aagctgctcc ggacactgat gctgaccttc caggctacct
     2161 acgcaggtgt cggggccaac aagcacctgc aggagctggc ccaggaggag gtgaagcagc
     2221 atgcccagga actctgggct gcctacaggg gtctgctgcg agttgcctta gagcgcaagg
     2281 gccaggccct ggaggaggat gaagacacag agacaaggga cctccaggtg catggattgg
     2341 tgctgcccct catgctgccc agcttctact cagagctctt cacgctctac ctgctgcttc
     2401 atgagcggga ggacagcttc tacagccagg gcattgccaa cttgagcctc tttcctgata
     2461 cccaactgct cgagttcctg gatgtgcaga agcacttgtg gcccctcaag gacctcacgc
     2521 tgacgagcaa tcagaggtac tccctggtca gggacaagtg tttcctgtca gccaccgagt
     2581 gcctgcagaa gatcatgacc acggtggacc cacgggagaa gctggaggtg ctggagagga
     2641 catacgggga aattgagggc acggtgtcga gggtattggg ccgggagtac aagctgccca
     2701 tggacgacct gctgccactt ctcatctacg tggtgtcgcg cgcccgaatt cagcacctgg
     2761 gagccgagat ccacctgatc cgtgacatga tggaccccaa ccacacagga ggcctgtatg
     2821 acttcctgct cacagccctg gagtcctgtt acgagcacat ccagaaagaa gacatgaggc
     2881 tgcaccgctt acctggccac tggcactcca gggagctctg gtagcctggc ctttcctgga
     2941 cagactgaag agctgagcag ggcactgcca gcctgtccct cattacccaa ggcaaggggc
     3001 aggacaggcc ctcagaagca gctcttggag gagatgagca ttttgttttg cacaggaaga
     3061 tgctgctgct gccctgactg ggatgagggt gaggggtgac gggtgtggcc ctggatgtgg
     3121 tggttttccc ttggccacta gcccatcttc aatgacccct taatctgcag cagctcacag
     3181 gctgggggtg aggagtccct ggcttctctt agcctgagcc tttctcccaa gttccagagc
     3241 ctctccgggc ctcagtgctg ccatctgtac aatggtggag tgagtacgct gtaaaggacc
     3301 ttccattcat tttgctgaat tccagagtcc ttttggaaaa ctgactttag tctgctgggc
     3361 tgtattgacc tctggcaggc tcgaagcctc actgggtatg cagtcaacag gatgggcctg
     3421 gagatccgtg aactgcaggc cacgtaccca tgacgtaaac ggcggcactg gagcaagctg
     3481 gggcgggggg tgggtaaacc ctcactgcca gcaggcccca agtggcttgt aaatcattct
     3541 cctgtgatgt ctgtgggcct gcgtggggac aacaggggca catgacatct gcctgggccc
     3601 tgaccaataa accctcagac ccaggaccca ggaccctgct gtagttgggg agcaggagta
     3661 cctttgggag gggaggactt tatttaaaca gtggttctag tgtgggacca agagaggcag
     3721 gagctgggtc ttggggcagc tttattcctg ttgggcctca gtttctcttc cccacacagt
     3781 ttatcttccg tcacattgtg ccgggtgacg tgcacggtct ccctctgccc tagccggaga
     3841 tgcatgatga caggcagtgt gatgtgttct gaaagtgtcc agggcaaagc gtagggagag
     3901 ggtggatttg tgcagggtgc agctctggag aagaagctgg atcactcttg gtcccattcc
     3961 ctaggccctg agcaagtcag gctcctggct ctgggtgtgg ctcccccaaa cgaagtactg
     4021 acttcagcct gtgaggggag ggttgaggga ggctctggaa agcccagcca cacctgagtc
     4081 cctggcagta gccttggggc agagggcacc cgcagagtcc cagagatgat gtgggcagtg
     4141 ggcagagaga gccttggcgc ctctgtttgc caccacttcc ccaggaagga gggacagcat
     4201 ttctctggct ggttccacta aatgtgccag cccaaatgca gggcatgggc tctggttctg
     4261 ccaggagcct gtgacacccc caggaagggg gtggaactga ggaagagcga ggatatgcag
     4321 gcactcatgc ttaccgggac tggggcagct cactaggatt ctatcctttc caatcggcat
     4381 cagccagctc ttgtcccctg ataagtgagg acagcctgac cctggcctca aatgcagcca
     4441 tccctgagtt catgcgatgc tgacgggacc ccagcacact tccctgcctc ctttgagatc
     4501 tgcgagccct tgctgcagtt cagattcaac aaggccctct gcccaccctc tcactaggcc
     4561 tcacccaaca ccagtggaac tggagcctct ggctgggcac agtggctcac tttgggaggc
     4621 tgaggcagga aggctgctgg aaactgagag ttcaagacca gcctgggcaa catagtgaga
     4681 ccctgtctct acaaatacaa aataaaataa ttagctgggt gtgttggtgt gtgcctgtgg
     4741 tcccagctac tcgggaggct gaggtgggaa gatccctgag cctggagggt cgaggttgca
     4801 gtgagcggag atcgcacctc tgcactcaat cctgggtgac aaaatgaaac cctgcctcaa
     4861 aaataaaaat aaaaataaaa ataaaataaa taaaaaagag catctggaca gag
//
