LOCUS       NM_144607               3489 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens cytochrome b5 domain containing 1 (CYB5D1), transcript
            variant 1, mRNA.
ACCESSION   NM_144607
VERSION     NM_144607.6
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 3489)
  AUTHORS   Zhao,L., Xie,H., Kang,Y., Lin,Y., Liu,G., Sakato-Antoku,M.,
            Patel-King,R.S., Wang,B., Wan,C., King,S.M., Zhao,C. and Huang,K.
  TITLE     Heme-binding protein CYB5D1 is a radial spoke component required
            for coordinated ciliary beating
  JOURNAL   Proc Natl Acad Sci U S A 118 (17) (2021)
   PUBMED   33875586
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC060779.1, AK289520.1 and AC104581.22.
            
            On Nov 23, 2018 this sequence version replaced NM_144607.5.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC060779.1, SRR1803611.204307.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332439.5/ ENSP00000331479.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-916               BC060779.1         10-925
            917-1366            AK289520.1         857-1306
            1367-1708           AK289520.1         1309-1650
            1709-2485           BC060779.1         1717-2493
            2486-2486           AC104581.22        24516-24516
            2487-3489           BC060779.1         2495-3497
FEATURES             Location/Qualifiers
     source          1..3489
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..3489
                     /gene="CYB5D1"
                     /note="cytochrome b5 domain containing 1"
                     /db_xref="GeneID:124637"
                     /db_xref="HGNC:HGNC:26516"
     exon            1..292
                     /gene="CYB5D1"
                     /inference="alignment:Splign:2.1.0"
     CDS             133..819
                     /gene="CYB5D1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytochrome b5 domain-containing protein 1"
                     /codon_start=1
                     /product="cytochrome b5 domain-containing protein 1
                     isoform 1"
                     /protein_id="NP_653208.2"
                     /db_xref="CCDS:CCDS11123.1"
                     /db_xref="GeneID:124637"
                     /db_xref="HGNC:HGNC:26516"
                     /translation="MPRRGLVAGPDLEYFQRRYFTPAEVAQHNRPEDLWVSYLGRVYD
                     LTSLAQEYKGNLLLKPIVEVAGQDISHWFDPKTRDIRKHIDPLTGCLRYCTPRGRFVH
                     VPPQLPCSDWANDFGKPWWQGSYYEVGRLSAKTRSIRIINTLTSQEHTLEVGVLESIW
                     EILHRYLPYNSHAASYTWKYEGKNLNMDFTLEENGIRDEEEEFDYLSMDGTLHTPAIL
                     LYFNDDLTEL"
     exon            293..369
                     /gene="CYB5D1"
                     /inference="alignment:Splign:2.1.0"
     exon            370..588
                     /gene="CYB5D1"
                     /inference="alignment:Splign:2.1.0"
     exon            589..3489
                     /gene="CYB5D1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3467..3472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5D1"
                     /note="hexamer: AATAAA"
     polyA_site      3489
                     /gene="CYB5D1"
                     /note="major polyA site"
ORIGIN      
        1 aatggtttcc atgtcagcgg ataaacgctc tcccctcggc tcccggacgc gacggaggtc
       61 gtagtagtag tgagtacgtg ctgaggagca aaggagtaac caagagatcc agtgaccgac
      121 agagcaagag ccatgccgcg ccggggcctg gtggctgggc cagacttgga gtattttcag
      181 cgtcgctatt tcacgccggc ggaggtggcc caacataaca ggcccgaaga cctctgggta
      241 tcttacctgg gacgcgtgta cgacctaacg tcattggcac aggaatacaa ggggaacctg
      301 ctgctgaaac ccatcgtgga agttgcaggc caggatatca gccactggtt tgatccaaag
      361 accagagaca tccgcaagca catagatccg ctgaccggct gcctgaggta ctgcaccccg
      421 cggggccgct ttgtgcacgt tccgcctcag ctgccctgtt cggactgggc caacgatttt
      481 gggaagccct ggtggcaggg gtcgtattat gaggtggggc ggctgtctgc caagacccgg
      541 agcatccgca tcattaacac gctcacgtcg caggagcaca cactggaggt gggggttctg
      601 gagtccatat gggaaatcct acaccgctat ctcccctata actcacatgc tgccagctac
      661 acgtggaaat atgaagggaa gaacctgaac atggatttta ccctggaaga gaatgggatc
      721 cgggatgagg aggaagaatt tgactatctc agtatggacg gtacacttca cacacctgca
      781 atacttctgt acttcaatga tgatctcacg gagttgtagg caaggagatg tacactcgtg
      841 tagactcaag acgtatttcg agtttggctt tttctgtgcc ttgaggaaaa gtggtggggc
      901 cgaggggtgc ctggacccag atctccactc ctctccagga gctagcctgt gcccttctga
      961 agtgtaaagg ccctattccc tgccttcatt acagtttgct ctgagaaaat tagtgaatta
     1021 atctttggga atgatacaag aagatcaagt accttggttt agggagatgt agaagaggat
     1081 agtcagagtt caggcagaac tgtttgatag ttaagagaga gtagttctac aggggtgagg
     1141 gatggaagga cttttttggc aatgatggaa atgagatgtc tgcaggaaga tgggatttac
     1201 aaagaaatag gaaatgttta tcattgacca tacaaagctg gcttatctta cttgtagaag
     1261 agtgtttggc agctgaaacc caagggaaag aaaggaagtg cgtcattata ggcaattcag
     1321 gctagatatt atactaggta cttcatatac cctctttttt ttttttgccc ccaacaaaga
     1381 gaaggggtct tgctctgtca cccagtctgg agtgcagtgg caaaatcatg gctcactgca
     1441 gcctggagct cctgggcaca agtgatcctc ccatctctgc cttgagtagc tgggacttca
     1501 ggtgcacgcc acaatgccta attttttaat tttttgtaga cacagggtct cgctgtgttg
     1561 cccaggctgg tttcaacctc ctggcctcaa gtgatcctct tgcctcagcc tcccaaatag
     1621 cctcttcaag acaactaccc cataaggtgg attaccatta ctatgttaca gataagtcct
     1681 tcgaaacttt ggaaagttta atagctcaaa gccacactag gtagtaacca ctagagccag
     1741 aatgcaaatt caagtctgcc caactccaaa gtccatgttc tctcaatata aagggaccat
     1801 ctcaatgtct aatctcatgt taacatttgt agccactgct ctcagcaagt atttgggatg
     1861 tggctttgtc ctaggatccc tgcacaatag gaaattgtgg tcctattgta tagtttgcag
     1921 ttattgtctc tggaagggag tttgcagagt tctcctgtgg cgaagaggag gcaaggaagg
     1981 ctaagtgtca gttaagcaat agctattggg gctacttctt tgttaatccc ataccccaga
     2041 tttctctcct gaccttttgg ggcaaagagg tgggtattta ctaacttgaa ggaaaactag
     2101 agtggggaaa aggccggcaa attagtgaca ctttggcgag ggagaaaaag gaggcagttt
     2161 gccacttgga gaagatgagg aagacagggt tgcaagacgg tgactccaaa agagggagct
     2221 cgacaggggt aatgtaaaca gagatgctaa ctaagtcaga aaactctcct ggtgaccaaa
     2281 agagaaccac tattgggggt aatggctaga tttggtctcc tttaacttaa ggaggggaga
     2341 tttgagaatg acagacagtt gaacttcctg gcagcagcaa gcaaaaaaca aatcaggaag
     2401 agtttagtgt gtcttctggc aggggacacc agggcccagc acaggagaag gtggcccctg
     2461 tgagatactg gtgggctata taggcatttt ctgaggggct ttgggaggca tgaacaaagg
     2521 tggaaacatt gctgttggct tcggcagtat ctgaatttac tgtgagatgg agggtttaaa
     2581 tctaacccca tggaatgcag gagtccatga attatctaaa tcgatcattt tgatctttaa
     2641 tcaactctgc aattatgtgt accttgtttg ctcaattaaa ccctgaacta tttgagaatg
     2701 aaagctatgc tgttcctcta gtgcaagcct cagggcctgt cctgtgccta caggatgtcc
     2761 ccattctgcc aaaacctgtc cctcttccag agactcctac ttcaatgtct cttgctagaa
     2821 acacatccct ttcctcacac atccagtcac tcatcaagtg taatctgtct cctaaatatc
     2881 tctggaacct atcttctttt ctccaagtta ccatcacctc ttgtctaaac tgctacggaa
     2941 acttcctaac ctgttctccc atttccactt ctgacttcca tgctgcaatg agagtcagct
     3001 atgaaaaaca aacctaaaca tcgaactttc cttagcttct tcagtggctt ccaactgctt
     3061 ttggaataaa gtcctaaatt caaagatctt gtataaatca ggctcatctc gcaacacccc
     3121 tctttgttct ctatggccta gacacactgg ctttcagttc attacatgtc ttgcctcaga
     3181 ccctcacaca ctgtcctctc tgcctgcaac actcttcctt tcactttcca cctagctgat
     3241 cctaaatgtt ccttcctcag ggaggtcttt tctgatttct tggtgggtca agactttctg
     3301 ataaatcagt tagcaccatg cattttccag agtttttatt acaattgtaa aattatggct
     3361 gtaataggct ggctgcgctg ctagattgta agctcacgag ggcagagatc ttgttcacat
     3421 cttgctcact gctatattct cattgctgag cacacagttg cagctcaata aattttgaat
     3481 gaactccaa
//
