LOCUS       NM_001144960            2207 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens ankyrin repeat and ubiquitin domain containing 1
            (ANKUB1), transcript variant 1, mRNA.
ACCESSION   NM_001144960 XM_001131739 XM_001132074 XM_001717444
VERSION     NM_001144960.3
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 2207)
  AUTHORS   Zhang,L., Chen,X., Xu,L., Guan,S., Wang,D., Lin,Y. and Wang,Z.
  TITLE     Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated
            with polysyndactyly in a Chinese family
  JOURNAL   Mol Genet Genomic Med 8 (6), e1223 (2020)
   PUBMED   32253825
  REMARK    GeneRIF: Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3
            associated with polysyndactyly in a Chinese family.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC171805.1, AK304359.1 and AC069216.13.
            
            On May 17, 2019 this sequence version replaced NM_001144960.2.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000446160.7/ ENSP00000387907.1
            RefSeq Select criteria    :: based on conservation, expression,
                                         longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-141               BC171805.1         270-410
            142-385             AK304359.1         142-385
            386-386             BC171805.1         627-627
            387-1666            AK304359.1         387-1666
            1667-1792           BC171805.1         1824-1949
            1793-2207           AC069216.13        104668-105082
FEATURES             Location/Qualifiers
     source          1..2207
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.1"
     gene            1..2207
                     /gene="ANKUB1"
                     /gene_synonym="C3orf16"
                     /note="ankyrin repeat and ubiquitin domain containing 1"
                     /db_xref="GeneID:389161"
                     /db_xref="HGNC:HGNC:29642"
     exon            1..278
                     /gene="ANKUB1"
                     /gene_synonym="C3orf16"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..1823
                     /gene="ANKUB1"
                     /gene_synonym="C3orf16"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein ANKUB1"
                     /codon_start=1
                     /product="protein ANKUB1 isoform 1"
                     /protein_id="NP_001138432.1"
                     /db_xref="GeneID:389161"
                     /db_xref="HGNC:HGNC:29642"
                     /translation="MRIFIAFEGSFEPFDVSADETVEVVKLMIKDYFHIPLSEDKQGR
                     RYLELMYAGAALKDSWSLADVGISFCSTLKCFVKEEDKPTLYVFNAVTQDTMPVMESI
                     SLLDKTVSDLRTLVTLRCGLPVSVYCLRTPRGLEMYDCNTLKDYQTDIGTTLRLDVWD
                     GWKEFLMGCLLGQKLKVQRYLSKEGPVLKYQKRVALYIAAFCGYIELTEWALKQGARP
                     HEAVGVHPYRAWCHEALHADVSKCPIHAAAEAGQLLILKAFVNYSVLCLECKNAAGQT
                     PLTIVFKHKHKDCVLYLLSKMWSTVSFPKISVPMRIYIKIKQWILRAQSHSLHKSQFC
                     GARVFGAKVGDTVMVDGFTKPKMTSKSWHKAGNSDSQSIVLKLPSLSKQTASSKPVNP
                     LAISQPDTRKQALKFHPLVNASSFSELQKHQQQNQKKITATARKKEKLIKNTYLPQVP
                     LPPVSRVGYSHPSFFYATPSADFLLKSSFSSFLEHSGKTPWENAIYCLAVASAFKEKR
                     WLQQLEIARVLAKKSISNLTTRGGLTACENSLETVL"
     exon            279..422
                     /gene="ANKUB1"
                     /gene_synonym="C3orf16"
                     /inference="alignment:Splign:2.1.0"
     exon            423..639
                     /gene="ANKUB1"
                     /gene_synonym="C3orf16"
                     /inference="alignment:Splign:2.1.0"
     exon            640..754
                     /gene="ANKUB1"
                     /gene_synonym="C3orf16"
                     /inference="alignment:Splign:2.1.0"
     exon            755..1693
                     /gene="ANKUB1"
                     /gene_synonym="C3orf16"
                     /inference="alignment:Splign:2.1.0"
     exon            1694..2207
                     /gene="ANKUB1"
                     /gene_synonym="C3orf16"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gtgttgcctg atactgtggc actgtgggac taggctcttc acattctaca acttaccttt
       61 gaggctagac agtgacagct gcctctggct atcatttttg tccttaattg tgaaccggaa
      121 tttttctagc catccaggag aatctttgaa aaagttggat attttttgtt tgaaaaggta
      181 attgtacaat gaggattttc atcgcctttg aaggatcttt tgaaccgttt gatgtttcag
      241 cagatgaaac tgtggaggtt gtcaagctga tgataaagga ttatttccac attcctctct
      301 ctgaagacaa acaaggcagg cggtatctgg agttaatgta tgctggagct gctctaaagg
      361 acagttggag tcttgctgat gttggaatat ctttctgttc aactctcaaa tgctttgtta
      421 aggaagaaga caagcctact ctatacgtgt tcaatgctgt aactcaagac acaatgccag
      481 taatggagag catttccctt cttgataaaa cagtgtctga tctgagaaca ctggtaactc
      541 tgagatgtgg cctccccgtg agtgtctact gtctccgaac cccaaggggc ctggagatgt
      601 atgattgcaa caccctcaag gactaccaga ctgatattgg cacaacactt cgcttggatg
      661 tctgggatgg atggaaggaa tttctgatgg gttgtctcct tggacaaaaa cttaaagtcc
      721 aacgctactt atcaaaagaa ggaccagtac tcaagtatca gaaaagggta gccctgtaca
      781 ttgctgcttt ttgtgggtac attgaactca ctgaatgggc cctgaagcag ggtgcgcggc
      841 cccacgaggc agtcggtgtt cacccctatc gagcatggtg ccatgaagcc cttcatgcag
      901 atgtctctaa atgccccatt catgcagccg cagaagcagg ccaactgttg attctgaagg
      961 cctttgtcaa ctacagtgtg ctgtgcctgg aatgcaaaaa tgcagcagga caaactcccc
     1021 tgaccattgt gttcaaacac aagcataaag actgtgtatt atatttgctc agtaaaatgt
     1081 ggtccacagt ttcttttcca aaaatttcag tcccaatgag gatttatatt aaaataaaac
     1141 aatggatcct cagagctcag agtcacagtc ttcataaaag ccagttttgt ggagcaaggg
     1201 tctttggggc aaaagttgga gacactgtga tggtggatgg tttcaccaaa ccaaaaatga
     1261 cctccaagag ctggcataag gctgggaaca gcgactcaca aagcatcgtg ctcaagctac
     1321 catctctcag caaacaaact gcaagcagca aacctgtcaa tcctttggca atttcacagc
     1381 cggacacaag aaaacaagcc ctcaaatttc atccactggt gaatgcaagt tcattctctg
     1441 aattacaaaa acatcaacaa caaaatcaga aaaaaattac tgccacagct aggaaaaaag
     1501 aaaagctcat aaaaaacaca tatcttcccc aagtccccct ccctccagtt tcaagagtgg
     1561 gatattcaca tccatcgttt ttctatgcaa cacccagtgc tgacttttta ctgaagtcct
     1621 ccttctcatc tttcttagag cacagtggga agactccatg ggagaacgca atctactgct
     1681 tagctgtggc aagtgccttt aaagagaaac gatggcttca gcagttagaa atagcaagag
     1741 tcctggccaa aaagagcatt tctaacttga ctacccgagg aggtctgaca gcgtgtgaaa
     1801 actctctaga aactgtgctt tgaaaagtca tgacaacttc agtttggaca aagacctgat
     1861 caaacagaat gtccagttct aatgttaaca tttctaataa cagttctaat gttatcatct
     1921 ctagtaacag ttataatgcc acataacttt taataggata tttaacacca tgttttctca
     1981 gacttcatca cactaagtga aactttagtg ctatttttgc ataaagaata tgaggaagaa
     2041 ttcagaagaa acttagaata gtagttgtcc acagggtagg ggagctgaga caatggaaaa
     2101 caaggaagtg ggaattttta cagttccttt gtttgttttt cttttttttt cctaaaaaaa
     2161 tgtgttttgg ttttttaagc catatgaatg tagaacatat ttaaaaa
//
