LOCUS       NM_001163692            1707 bp    mRNA    linear   PRI 31-OCT-2024
DEFINITION  Homo sapiens ubiquitin associated protein 1 like (UBAP1L), mRNA.
ACCESSION   NM_001163692 XM_001718742 XM_372574 XM_940509
VERSION     NM_001163692.2
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 1707)
  AUTHORS   Han,J.H., Rodenburg,K., Hayman,T., Calzetti,G., Kaminska,K.,
            Quinodoz,M., Marra,M., Wallerich,S., Allon,G., Nagy,Z.Z., Knezy,K.,
            Li,Y., Chen,R., Barboni,M.T.S., Yang,P., Pennesi,M.E., van den
            Born,L.I., Varsanyi,B., Szabo,V., Sharon,D., Banin,E.,
            Ben-Yosef,T., Roosing,S., Koenekoop,R.K. and Rivolta,C.
  TITLE     Loss-of-function variants in UBAP1L cause autosomal recessive
            retinal degeneration
  JOURNAL   Genet Med 26 (6), 101106 (2024)
   PUBMED   38420906
  REMARK    GeneRIF: Loss-of-function variants in UBAP1L cause autosomal
            recessive retinal degeneration.
REFERENCE   2  (bases 1 to 1707)
  AUTHORS   Zeitz,C., Navarro,J., Azizzadeh Pormehr,L., Mejecase,C.,
            Neves,L.M., Letellier,C., Condroyer,C., Albadri,S., Amprou,A.,
            Antonio,A., Ben-Yacoub,T., Wohlschlegel,J., Andrieu,C.,
            Serafini,M., Bianco,L., Antropoli,A., Nassisi,M., El Shamieh,S.,
            Chantot-Bastaraud,S., Mohand-Said,S., Smirnov,V., Sahel,J.A., Del
            Bene,F. and Audo,I.
  TITLE     Variants in UBAP1L lead to autosomal recessive rod-cone and
            cone-rod dystrophy
  JOURNAL   Genet Med 26 (6), 101081 (2024)
   PUBMED   38293907
  REMARK    GeneRIF: Variants in UBAP1L lead to autosomal recessive rod-cone
            and cone-rod dystrophy.
REFERENCE   3  (bases 1 to 1707)
  AUTHORS   de Souza,R.F. and Aravind,L.
  TITLE     UMA and MABP domains throw light on receptor endocytosis and
            selection of endosomal cargoes
  JOURNAL   Bioinformatics 26 (12), 1477-1480 (2010)
   PUBMED   20448139
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013553.14.
            
            On May 1, 2020 this sequence version replaced NM_001163692.1.
            
            Sequence Note:.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.3704365.1,
                                           SRR14038192.44801.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000559089.6/ ENSP00000454012.1
            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
            1-51                AC013553.14        124285-124335       c
            52-344              AC013553.14        115231-115523       c
            345-923             AC013553.14        111241-111819       c
            924-1133            AC013553.14        108640-108849       c
            1134-1235           AC013553.14        103610-103711       c
            1236-1707           AC013553.14        101895-102366       c
FEATURES             Location/Qualifiers
     source          1..1707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..1707
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /note="ubiquitin associated protein 1 like"
                     /db_xref="GeneID:390595"
                     /db_xref="HGNC:HGNC:40028"
     exon            1..51
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /inference="alignment:Splign:2.1.0"
     exon            52..344
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             225..1370
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /codon_start=1
                     /product="ubiquitin-associated protein 1-like"
                     /protein_id="NP_001157164.1"
                     /db_xref="CCDS:CCDS53948.1"
                     /db_xref="GeneID:390595"
                     /db_xref="HGNC:HGNC:40028"
                     /translation="MNALDGVPFKLPKGFVIGTEPLPGPELSVPACGEVLLGSMHDFS
                     LERTALFWVEAAGQGPSPYQCGDPGTASAPPAWLLLVSPEHGLAPAPTTIRDPEAGHQ
                     ERPEEEGEDEAEASSGSEEEPAPSSLQPGSPASPGPGRRLCSLDVLRGVRLELAGARR
                     RLSEGKLVSRPRALLHGLRGHRALSLCPSPAQSPRSASPPGPAPQHPAAPASPPRPST
                     AGAIPPLRSHKPTVASLSPYTCLPPLGGAPQPLNPHKSHPDTAADLLSALSQEEQDLI
                     GPVVALGYPLRRAIIALQKTGRQSLSQFLSYLSACDRLLRQGYEEGLVDEAMEMFQFS
                     ESQAGEFLRLWEQFSDMGFQQDRIKEVLLVHGNRREQALEELVACAQ"
     exon            345..923
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1133
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1235
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1707
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1443..1448
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /note="hexamer: ATTAAA"
     polyA_site      1463
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /note="major polyA site"
     regulatory      1683..1688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /note="hexamer: AATAAA"
     regulatory      1687..1692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
                     /note="hexamer: AATAAT"
     polyA_site      1697
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
     polyA_site      1707
                     /gene="UBAP1L"
                     /gene_synonym="UBAP-1L"
ORIGIN      
        1 attcatttat acacgctttg tctgcaggga agttctcctg gtaattacaa gcactggccc
       61 cctcaccttt tcctttccag ctgtttgggg ctcagctaag tgaccacaca ggagagcagt
      121 gaggccattt gaggcctgag cctggtcctc aggactcgac tctctctccc tgccatcaag
      181 cagcctgccc cagccctgcc agccatctcc acactcctga cagaatgaat gccctcgatg
      241 gtgttccttt caagttgccc aagggctttg tgataggcac agagcctctc cctgggccag
      301 aactcagcgt cccggcctgc ggggaagttc tgctgggttc tatgcacgac ttcagcctgg
      361 agaggacggc actcttctgg gtggaggccg ccggccaggg acccagcccg taccagtgcg
      421 gtgacccggg gacagcgtca gcccctccag cctggctctt gctagtcagc cccgaacatg
      481 ggctggcgcc tgcgcccacc acaatcagag acccggaggc cggacaccag gagaggccgg
      541 aggaggaggg tgaggacgag gcagaagcct cctctggcag cgaggaagag ccggccccca
      601 gcagcctcca accgggctcc ccggcgagcc ccggccccgg ccgtcgcctg tgctcgctgg
      661 acgtgctacg cggcgtgcgg ttggagctgg caggggcgcg gcggcggctc tccgagggga
      721 agctggtctc ccggccccgc gccctcctgc atggcctccg cggccaccgc gcgctgagcc
      781 tgtgcccgag ccctgcgcag tcccccaggt ctgcatcacc cccggggccc gcgccccagc
      841 accccgccgc ccccgcgtcg cccccgcggc cctccacggc aggcgccatc cccccgctgc
      901 ggagccacaa gcctacggtc gcgtccctca gcccgtacac ctgtctgcca cctcttgggg
      961 gggcacccca acctctcaac ccccacaagt cacaccctga tactgcggct gacctgctgt
     1021 ccgccctgag ccaggaggag caagacctca ttgggccagt ggtcgccctg ggatatcccc
     1081 tgcgaagggc catcatagct ctgcagaaga cagggaggca gagcctgagc cagtttctca
     1141 gctacctcag tgcctgtgac cgcctgttac gtcagggata tgaggaaggc ctggtggatg
     1201 aggccatgga gatgttccag ttctccgaga gccaggcagg ggagttcctg cgcctctggg
     1261 agcagttcag tgacatgggc ttccagcagg accggatcaa ggaggtgctg ctggtccatg
     1321 gcaaccgccg agagcaagcc ctggaggagc tggtggcctg tgcccagtga ccacggaggc
     1381 actccacgat gcctgggcat ctaggcccaa tgccagacct ggcaacccat cctaactgta
     1441 ttattaaaac caagtaagag taacaaagtg atgcatactt attgtaaaaa cacaaataat
     1501 accaagggtg acagttaaca gcagcagaat ctgctgaaag agttgaaata gttgcctctg
     1561 cagaggggca gatgggagag ccggacgggg agctatgttc ttcatgcatg cctgtgaaac
     1621 cacctgattt gactctttac actgtgtgca ttagtaacct tgattttaag aaaattaaaa
     1681 caaataaata atgggcagtt cttctga
//
