LOCUS       NM_002617               2835 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 10 (PEX10), transcript
            variant 2, mRNA.
ACCESSION   NM_002617
VERSION     NM_002617.4
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 2835)
  AUTHORS   Feng,P., Wu,X., Erramilli,S.K., Paulo,J.A., Knejski,P., Gygi,S.P.,
            Kossiakoff,A.A. and Rapoport,T.A.
  TITLE     A peroxisomal ubiquitin ligase complex forms a retrotranslocation
            channel
  JOURNAL   Nature 607 (7918), 374-380 (2022)
   PUBMED   35768507
REFERENCE   2  (bases 1 to 2835)
  AUTHORS   Cervan-Martin,M., Bossini-Castillo,L., Rivera-Egea,R., Garrido,N.,
            Lujan,S., Romeu,G., Santos-Ribeiro,S., Castilla,J.A.,
            Gonzalvo,M.D.C., Clavero,A., Vicente,F.J., Guzman-Jimenez,A.,
            Burgos,M., Barrionuevo,F.J., Jimenez,R., Sanchez-Curbelo,J.,
            Lopez-Rodrigo,O., Peraza,M.F., Pereira-Caetano,I., Marques,P.I.,
            Carvalho,F., Barros,A., Bassas,L., Seixas,S., Goncalves,J.,
            Larriba,S., Lopes,A.M., Carmona,F.D. and Palomino-Morales,R.J.
  CONSRTM   IVIRMA Group, Lisbon Clinical Group
  TITLE     Effect and in silico characterization of genetic variants
            associated with severe spermatogenic disorders in a large Iberian
            cohort
  JOURNAL   Andrology 9 (4), 1151-1165 (2021)
   PUBMED   33784440
  REMARK    GeneRIF: Effect and in silico characterization of genetic variants
            associated with severe spermatogenic disorders in a large Iberian
            cohort.
REFERENCE   3  (bases 1 to 2835)
  AUTHORS   Gu,X., Li,H., Chen,X., Zhang,X., Mei,F., Jia,M. and Xiong,C.
  TITLE     PEX10, SIRPA-SIRPG, and SOX5 gene polymorphisms are strongly
            associated with nonobstructive azoospermia susceptibility
  JOURNAL   J Assist Reprod Genet 36 (4), 759-768 (2019)
   PUBMED   30863997
  REMARK    GeneRIF: Collectively, the rs2477686 in PEX10 , rs6080550 in
            SIRPA-SIRPG, and rs10842262 in SOX5 gene may indeed be the genetic
            risk factors for nonobstructive azoospermia (NOA), which requires
            further investigation using larger independent sets of samples in
            different ethnic populations.
REFERENCE   4  (bases 1 to 2835)
  AUTHORS   Renaud,M., Guissart,C., Mallaret,M., Ferdinandusse,S., Cheillan,D.,
            Drouot,N., Muller,J., Claustres,M., Tranchant,C., Anheim,M. and
            Koenig,M.
  TITLE     Expanding the spectrum of PEX10-related peroxisomal biogenesis
            disorders: slowly progressive recessive ataxia
  JOURNAL   J Neurol 263 (8), 1552-1558 (2016)
   PUBMED   27230853
  REMARK    GeneRIF: This study demonstrated that two mutations in PEX10 were
            found in the three peroxisomal biogenesis disorders patients:
            c.827G>T (novel) causing the missense change p.Cys276Phe and
            c.932G>A causing the missense change p.Arg311Gln.
REFERENCE   5  (bases 1 to 2835)
  AUTHORS   South,S.T. and Gould,S.J.
  TITLE     Peroxisome synthesis in the absence of preexisting peroxisomes
  JOURNAL   J Cell Biol 144 (2), 255-266 (1999)
   PUBMED   9922452
REFERENCE   6  (bases 1 to 2835)
  AUTHORS   Okumoto,K., Itoh,R., Shimozawa,N., Suzuki,Y., Tamura,S., Kondo,N.
            and Fujiki,Y.
  TITLE     Mutations in PEX10 is the cause of Zellweger peroxisome deficiency
            syndrome of complementation group B
  JOURNAL   Hum Mol Genet 7 (9), 1399-1405 (1998)
   PUBMED   9700193
REFERENCE   7  (bases 1 to 2835)
  AUTHORS   Warren,D.S., Morrell,J.C., Moser,H.W., Valle,D. and Gould,S.J.
  TITLE     Identification of PEX10, the gene defective in complementation
            group 7 of the peroxisome-biogenesis disorders
  JOURNAL   Am J Hum Genet 63 (2), 347-359 (1998)
   PUBMED   9683594
REFERENCE   8  (bases 1 to 2835)
  AUTHORS   Chang,C.C., Lee,W.H., Moser,H., Valle,D. and Gould,S.J.
  TITLE     Isolation of the human PEX12 gene, mutated in group 3 of the
            peroxisome biogenesis disorders
  JOURNAL   Nat Genet 15 (4), 385-388 (1997)
   PUBMED   9090384
REFERENCE   9  (bases 1 to 2835)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (bases 1 to 2835)
  AUTHORS   Steinberg,S.J., Raymond,G.V., Braverman,N.E. and Moser,A.B.
  TITLE     Zellweger Spectrum Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301621
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL513477.21.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 27, 2019 this sequence version replaced NM_002617.3.
            
            Summary: This gene encodes a protein involved in import of
            peroxisomal matrix proteins. This protein localizes to the
            peroxisomal membrane. Mutations in this gene result in phenotypes
            within the Zellweger spectrum of peroxisomal biogenesis disorders,
            ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.
            Alternative splicing results in two transcript variants encoding
            different isoforms. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AB013818.1, BC018198.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155371, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000447513.7/ ENSP00000407922.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-174               AL513477.21        34251-34424
            175-255             AL513477.21        36364-36444
            256-662             AL513477.21        37957-38363
            663-838             AL513477.21        39920-40095
            839-974             AL513477.21        40196-40331
            975-2835            AL513477.21        40981-42841
FEATURES             Location/Qualifiers
     source          1..2835
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     gene            1..2835
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /note="peroxisomal biogenesis factor 10"
                     /db_xref="GeneID:5192"
                     /db_xref="HGNC:HGNC:8851"
                     /db_xref="MIM:602859"
     exon            1..174
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..1043
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /EC_number="2.3.2.27"
                     /note="isoform 2 is encoded by transcript variant 2;
                     peroxisome biogenesis factor 10; peroxin 10; peroxisome
                     assembly protein 10; RING finger protein 69"
                     /codon_start=1
                     /product="peroxisome biogenesis factor 10 isoform 2"
                     /protein_id="NP_002608.1"
                     /db_xref="CCDS:CCDS44045.1"
                     /db_xref="GeneID:5192"
                     /db_xref="HGNC:HGNC:8851"
                     /db_xref="MIM:602859"
                     /translation="MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLE
                     WRKEVELLSDVAYFGLTTLAGYQTLGEEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVL
                     PYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSGARRWMRHHTATLTEQQRRAL
                     LRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITYLRVRSLPGEDLRARVSYR
                     LLGVISLLHLVLSMGLQLYGFRQRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLC
                     LEERRHPTATPCGHLFCWECITAWCSSKAECPLCREKFPPQKLIYLRHYR"
     exon            175..255
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /inference="alignment:Splign:2.1.0"
     exon            256..662
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /inference="alignment:Splign:2.1.0"
     exon            663..838
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /inference="alignment:Splign:2.1.0"
     exon            839..974
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /inference="alignment:Splign:2.1.0"
     exon            975..2835
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1970..1975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /note="hexamer: AATAAA"
     polyA_site      1990
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /note="major polyA site"
     regulatory      2814..2819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
                     /note="hexamer: AGTAAA"
     polyA_site      2835
                     /gene="PEX10"
                     /gene_synonym="NALD; PBD6A; PBD6B; RNF69"
ORIGIN      
        1 ctcgcccgtc tgggcgtggg cgtggccggc gtggctgctc gggaccaccc gaacccgcgg
       61 ccatggcccc ggccgccgcc agccccccgg aggtgatccg cgcggcgcag aaggacgagt
      121 actaccgcgg tgggctgcgg agcgcggcgg gcggcgccct gcacagcctg gcgggtgcga
      181 ggaagtggct ggagtggagg aaggaggttg agctgctctc agatgtggcc tactttggcc
      241 tcaccacact tgcaggctac cagaccctgg gggaggagta cgtcagcatc atccaggtgg
      301 acccatcgcg gatacatgtg ccctcctcgc tgcgccgtgg cgtgctggtg acactgcatg
      361 ccgtcctgcc ctacctgctg gacaaggccc tgctccccct ggagcaggag ctgcaggctg
      421 accccgacag tgggcgaccc ttgcagggga gcctggggcc aggtgggcgt ggctgctcag
      481 gggcgcggcg ctggatgcgt caccacacgg ccaccctgac tgagcagcag aggagggcgc
      541 tgctgcgggc ggtcttcgtc ctcagacagg gcctcgcctg cctccagcgg ctacatgttg
      601 cctggtttta catccacggt gtcttctacc acctggccaa gaggctcacg gggatcacgt
      661 acctccgtgt ccgcagcctg cccggagagg acctgagggc ccgtgttagc tacaggctgc
      721 tgggggtcat ctcactgctg cacctggtgc tgtccatggg gctgcagctg tacggtttca
      781 ggcagcggca gcgagccagg aaggagtgga ggctgcaccg cggcctgtct caccgcaggg
      841 cctccttgga ggagagagcc gtttccagaa accccctgtg caccctgtgc ctggaggagc
      901 gcaggcaccc aacagccacg ccctgcggcc acctgttctg ctgggagtgc atcaccgcgt
      961 ggtgcagcag caaggcggag tgtcccctct gccgggagaa gttccctccc cagaagctca
     1021 tctaccttcg gcactaccgc tgagccggcg cccgggtggg cctggacaca gatgacctct
     1081 acgggagtct gaacgccaag atttagtctc aggattaacc ttgcttgcac agaagttaga
     1141 acactctcag ttttttgtca tgtaagatac taacctagcc accctgggag agaacagaaa
     1201 gctgtccctg gctgcgcttt ctcagccctg ggaggggcgc ctgaacccag aacatttccc
     1261 taaccccaac ctggtaggac tcagccactt cttcaggaat ttcacttatt tggacgggat
     1321 tttaggtttc cctcccttcc ccaaaccata cagttgagaa gtaattcaga agtaggccag
     1381 aagacacttt attcgtttat attgtgagaa aacagcccca tcaggcttgt gttaaggcaa
     1441 tggactgaat gagtgcgtgc tgggtggggt ggggcacgga ggctggcggg ttgcttcagc
     1501 cagtgcagtg agaacagcag ccccacggcc ccatgggagg cggcgctgct ctccccgagg
     1561 gcggctgggc agagcacatc ccccaggact tgatgaccac acggggcaga gagaaaccaa
     1621 ccaaggccag cacctccgtc ggaagcattt ggcacacaca ccttcaatac acgtcaaggt
     1681 cgcttccagt tttagaaaac agaaatctgc atctcagcct gagacgcaca gagaggtctc
     1741 ttcctgaccc agacgcactc acgagccagg tcctgggggt atgggggctg ccaggggcgc
     1801 ccgagccctc tcctgggggg cctgctgggc aggcgacctg ctgacccacg gtcactgctg
     1861 tgttcagccc ctcagctcgg ccccagccta tttcccgcct ccatttgatg tttccaggtt
     1921 ttcaaaactg catttaacct gcgccagaga gttcaccgta ggcatcttta ataaactaac
     1981 tccagcaaaa tgtgggtacg ttactaacac aagatggaac ttgagatttc ctgaagcgca
     2041 gtgttaaaat gcctcgaggg cgtgtgccac atttccctgc tgacgtaaaa cacctggcca
     2101 gcaggaccgg cttccggcaa agacccgcgc aaaccatgtc ttgctgtttg acttacttag
     2161 gaatgaggat gaccctgtat tcctgggtta gtcaaggtca gcttgccaga gacggaggag
     2221 ggcggggggg ccgtgaccct ctagactggg aggaccacca ggagaggcac tgggggctgc
     2281 ggccgggtgg gcagatgccg ccgtggctcc atccatcagc acccagtcct ttgcttcact
     2341 gtgctctggc caagcgcgtg cgacttcctg tcacacctta ggcctgagcg cttattaaga
     2401 aaacagtatg aaaaatgaca aacactcctg tccacagtct gagaatccca agtgtctcaa
     2461 cacggtacca gaagtaccac ctgggagcag cactggctat cttgggtcag ggacacacaa
     2521 gcttgaacgt ggcctcttag aggagctcga tgtcagatat gtaaacactg gtacaagaaa
     2581 atccagacac taagcattca ccgtgtcaat tctgagacag gaaacaccgc ccagagtgag
     2641 gagcctgcgc agcccggggc ccaggaggag aggccttcac tcgcatgtca gtgtctcatc
     2701 tgggaccaca gctgtgatgt tctgctgtgc aatatgggtc acctttcgaa aaggccaaac
     2761 aaaaggtggg ctttcctgtg tccagcgact gccatgtttt aggtaaagac tttagtaaag
     2821 gtggaggtaa aatca
//
