LOCUS       NM_148923               3231 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens cytochrome b5 type A (CYB5A), transcript variant 1,
            mRNA.
ACCESSION   NM_148923
VERSION     NM_148923.4
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 3231)
  AUTHORS   Benson,D.R., Deng,B., Kashipathy,M.M., Lovell,S., Battaile,K.P.,
            Cooper,A., Gao,P., Fenton,A.W. and Zhu,H.
  TITLE     The N-terminal intrinsically disordered region of Ncb5or docks with
            the cytochrome b5 core to form a helical motif that is of ancient
            origin
  JOURNAL   Proteins 92 (4), 554-566 (2024)
   PUBMED   38041394
  REMARK    GeneRIF: The N-terminal intrinsically disordered region of Ncb5or
            docks with the cytochrome b5 core to form a helical motif that is
            of ancient origin.
REFERENCE   2  (bases 1 to 3231)
  AUTHORS   Tateishi,Y., Webb,S.N., Li,B., Liu,L., Lindsey Rose,K., Leser,M.,
            Patel,P. and Guengerich,F.P.
  TITLE     Proteomics, modeling, and fluorescence assays delineate cytochrome
            b5 residues involved in binding and stimulation of cytochrome P450
            17A1 17,20-lyase
  JOURNAL   J Biol Chem 300 (3), 105688 (2024)
   PUBMED   38280431
  REMARK    GeneRIF: Proteomics, modeling, and fluorescence assays delineate
            cytochrome b5 residues involved in binding and stimulation of
            cytochrome P450 17A1 17,20-lyase.
REFERENCE   3  (bases 1 to 3231)
  AUTHORS   Machaj,F., Rosik,J., Szostak,B., Malinowski,D., Safranow,K.,
            Oledzka,G., Wiechec,E. and Pawlik,A.
  TITLE     The association between CYB5A gene rs1790834 polymorphism and
            clinical improvement after 6 months of leflunomide treatment in
            women with rheumatoid arthritis
  JOURNAL   Clin Rheumatol 42 (9), 2477-2483 (2023)
   PUBMED   37289314
  REMARK    GeneRIF: The association between CYB5A gene rs1790834 polymorphism
            and clinical improvement after 6 months of leflunomide treatment in
            women with rheumatoid arthritis.
REFERENCE   4  (bases 1 to 3231)
  AUTHORS   Tong,X.Y., Yang,X.Z., Gao,S.Q., Wang,X.J., Wen,G.B. and Lin,Y.W.
  TITLE     Regulating Effect of Cytochrome b5 Overexpression on Human Breast
            Cancer Cells
  JOURNAL   Molecules 27 (14), 4556 (2022)
   PUBMED   35889429
  REMARK    GeneRIF: Regulating Effect of Cytochrome b5 Overexpression on Human
            Breast Cancer Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3231)
  AUTHORS   Bartsch,L., Schroeder,M.P., Hanzelmann,S., Bastian,L.,
            Lazaro-Navarro,J., Schlee,C., Tanchez,J.O., Schulze,V.,
            Isaakidis,K., Rieger,M.A., Gokbuget,N., Eckert,C., Serve,H.,
            Horstmann,M., Schrappe,M., Bruggemann,M., Baldus,C.D. and
            Neumann,M.
  TITLE     An alternative CYB5A transcript is expressed in aneuploid ALL and
            enriched in relapse
  JOURNAL   BMC Genom Data 23 (1), 30 (2022)
   PUBMED   35436854
  REMARK    GeneRIF: An alternative CYB5A transcript is expressed in aneuploid
            ALL and enriched in relapse.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3231)
  AUTHORS   Mitoma,J. and Ito,A.
  TITLE     The carboxy-terminal 10 amino acid residues of cytochrome b5 are
            necessary for its targeting to the endoplasmic reticulum
  JOURNAL   EMBO J 11 (11), 4197-4203 (1992)
   PUBMED   1396600
REFERENCE   7  (bases 1 to 3231)
  AUTHORS   Shephard,E.A., Povey,S., Spurr,N.K. and Phillips,I.R.
  TITLE     Chromosomal localization of a cytochrome b5 gene to human
            chromosome 18 and a cytochrome b5 pseudogene to the X chromosome
  JOURNAL   Genomics 11 (2), 302-308 (1991)
   PUBMED   1840560
REFERENCE   8  (bases 1 to 3231)
  AUTHORS   Giordano,S.J. and Steggles,A.W.
  TITLE     The human liver and reticulocyte cytochrome b5 mRNAs are products
            from a single gene
  JOURNAL   Biochem Biophys Res Commun 178 (1), 38-44 (1991)
   PUBMED   1712589
REFERENCE   9  (bases 1 to 3231)
  AUTHORS   Dailey,H.A. and Strittmatter,P.
  TITLE     Modification and identification of cytochrome b5 carboxyl groups
            involved in protein-protein interaction with cytochrome b5
            reductase
  JOURNAL   J Biol Chem 254 (12), 5388-5396 (1979)
   PUBMED   221468
REFERENCE   10 (bases 1 to 3231)
  AUTHORS   Ng,S., Smith,M.B., Smith,H.T. and Millett,F.
  TITLE     Effect of modification of individual cytochrome c lysines on the
            reaction with cytochrome b5
  JOURNAL   Biochemistry 16 (23), 4975-4978 (1977)
   PUBMED   199233
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB112646.1, BC015182.1,
            BG196223.1 and AC090398.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_148923.3.
            
            Summary: The protein encoded by this gene is a membrane-bound
            cytochrome that reduces ferric hemoglobin (methemoglobin) to
            ferrous hemoglobin, which is required for stearyl-CoA-desaturase
            activity. Defects in this gene are a cause of type IV hereditary
            methemoglobinemia. Three transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jun
            2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: BF700496.1, SRR1660807.220050.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474, SAMEA2154405
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340533.9/ ENSP00000341625.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                CB112646.1         54-72
            20-781              BC015182.1         1-762
            782-785             BG196223.1         571-574
            786-3231            AC090398.12        57111-59556         c
FEATURES             Location/Qualifiers
     source          1..3231
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.3"
     gene            1..3231
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /note="cytochrome b5 type A"
                     /db_xref="GeneID:1528"
                     /db_xref="HGNC:HGNC:2570"
                     /db_xref="MIM:613218"
     exon            1..217
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..493
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /note="isoform 1 is encoded by transcript variant 1; type
                     1 cyt-b5; cytochrome b5 type A (microsomal); epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="cytochrome b5 isoform 1"
                     /protein_id="NP_683725.1"
                     /db_xref="CCDS:CCDS12004.1"
                     /db_xref="GeneID:1528"
                     /db_xref="HGNC:HGNC:2570"
                     /db_xref="MIM:613218"
                     /translation="MAEQSDEAVKYYTLEEIQKHNHSKSTWLILHHKVYDLTKFLEEH
                     PGGEEVLREQAGGDATENFEDVGHSTDAREMSKTFIIGELHPDDRPKLNKPPETLITT
                     IDSSSSWWTNWVIPAISAVAVALMYRLYMAED"
     exon            218..346
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /inference="alignment:Splign:2.1.0"
     exon            347..376
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /inference="alignment:Splign:2.1.0"
     exon            377..411
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /inference="alignment:Splign:2.1.0"
     exon            412..3231
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      760..765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /note="hexamer: AATATA"
     polyA_site      781
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /note="major polyA site"
     regulatory      3209..3214
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
                     /note="hexamer: AATAAA"
     polyA_site      3231
                     /gene="CYB5A"
                     /gene_synonym="CYB5; MCB5; METAG"
ORIGIN      
        1 gaatgtcccg ggtggagctg gctgagtcgc gcgctctgct ccacccgacg gggctgtgtg
       61 tgctgggcct ggctcgcggc gaaccgagat ggcagagcag tcggacgagg ccgtgaagta
      121 ctacacccta gaggagattc agaagcacaa ccacagcaag agcacctggc tgatcctgca
      181 ccacaaggtg tacgatttga ccaaatttct ggaagagcat cctggtgggg aagaagtttt
      241 aagggaacaa gctggaggtg acgctactga gaactttgag gatgtcgggc actctacaga
      301 tgccagggaa atgtccaaaa cattcatcat tggggagctc catccagatg acagaccaaa
      361 gttaaacaag cctccggaaa ctcttatcac tactattgat tctagttcca gttggtggac
      421 caactgggtg atccctgcca tctctgcagt ggccgtcgcc ttgatgtatc gcctatacat
      481 ggcagaggac tgaacacctc ctcagaagtc agcgcaggaa gagcctgctt tggacacggg
      541 agaaaagaag ccattgctaa ctacttcaac tgacagaaac cttcacttga aaacaatgat
      601 tttaatatat ctctttcttt ttcttccgac attagaaaca aaacaaaaag aactgtcctt
      661 tctgcgctca aatttttcga gtgtgccttt ttattcatct actttatttt gatgtttcct
      721 taatgtgtaa tttacttatt ataagcatga tcttttaaaa atatatttgg cttttaaagt
      781 atgcaccgtg tttgcctgtt tggtgtataa ttgtctttaa tgtttagaat ctggttattt
      841 agaggattcc ttcaatgtgt tactcatcca gacccacaga ggccatatga ctggaggtgc
      901 gggaaatagg tttgagtgtc tcctttcaca tcgtcacatc tcattgagta accatgtatt
      961 gtatgcttcc gatatagttt ctttttttca aggaaattaa gaaaggccag aaattatagt
     1021 ttaaggattt ctaataattg tcctacttga aatagatctt aaaaagaaag tagcggctgg
     1081 gcatcgtggc tcacacctgt aagcccagca ctttgggagg ctgaggtggg tggatcactt
     1141 gaggtcagga gttcaagacc agcctgacca acatggtgaa accctgtctc tactaaaaat
     1201 acaaaattag cagggcgtag tggcgcatgc ctgtaatccc ggctacttgg gaggctgagg
     1261 caggagaatt gcttgaaccc aggaggcaga ggttgtagtg agctgagatc gcgccgttga
     1321 actccagctg ggcaacaaga gtgaaactct gtctcaaaaa aaaaagaaag tagcctacag
     1381 ggcctataag agagacttct tatcttcact gattgaaaaa catcagcaac ttaaaaacac
     1441 atgaaccatg agagggcatc gcaactgtcc attctctcag cttacacgta tcattgcaaa
     1501 ggcactcaca gcttcatagg ttctaaagtt ttaagaattc ctcattcaga gagtagaatt
     1561 gtttgtaaac tcttctaagg aaaggctggt tttctaattt gtaaggagat tgtgggacat
     1621 tggaatctga tctttgaaga aatttagcgg ctagtgtcaa gctctgaaga gttctggtgt
     1681 ggctctgtct cctcctgggg gctctaaggg gctgattcag tcatcttact tcccatttat
     1741 tattctctgc cttatgtgtt attcttttaa atgtggaaac ttgaaagctg aatttgttag
     1801 aacccagtac atgtgtcatt ggctgtgact gcatttgcac tggcatgagc tgacaaacca
     1861 cgaggttctt cagaagtgac cgcgtgcagt ggaaaggaat tgtgttgttc ttacagagta
     1921 caacctttat aatcaaatag gatgcaccgc ctttgccttc tttagtcact gaaagttgac
     1981 aagtagtttc tatttcaaaa taaattacaa cacttgttaa gggacctatg taaatatttc
     2041 aatatttttg gttgtgattt ttagctataa agcttcacat tttagtagtt tttaaaacat
     2101 tgctcctaaa tcaactatga agtgaatcga agtgggtcag tcgtacctta gatgacatta
     2161 aagggttaac ttgtaaatca tttttaagat gttgagtaat agcatctgta tatcgttaag
     2221 aaacataaca gttgaacttt gacattttta tcagtgactc agcaatttgc tgctgtggct
     2281 ggcaatgttt cttcatgtgt tttgggaaca acatgtggag taaaggagag tttacttcct
     2341 aattttaaca tttacagttt gtgcagccag actctcaagg aaagatattt gacacttttt
     2401 tctctattgc tttcccttca gagaggtgag agacttcaga ggctgccctt tcttttcatc
     2461 tgctgcttgt gaaaggaaaa catcttgggc ccccagaatc actaaggaaa actcaagctg
     2521 gaaactgctt agggccaacc tgcctcccat tctactcagt caagcctctg ctcactgaga
     2581 gagaggcata tctgattgct tcctttggaa aggctaatca gaaactcaga agaatgcaac
     2641 cctttgtgtc tcacctctct gtgacctgga agctccctcc tgctttgagt cttcctgcct
     2701 ttgcttcaag gtgtcccgcc tttccaaaca gaaccaatgt acttcttaca tatattgatc
     2761 aatgtctcat gtctccctaa aatgcataaa accaagctgt gccctgacca ccttgggtac
     2821 atgtcattag gacctcctga tgctttgtca cgggcatgtc ctcaaccttg gcaaagtaaa
     2881 ctttcttttt tttttttttt tgtttttgag acagagtctc actctgtcgc ccaggctgga
     2941 gtgcagtggt atgatcttgg ctcactgcaa cctccgactc ccaggttcaa gtgattctcc
     3001 tgccccagcc tcctgagtag ctgggactac aggcgtatgc caccatgcct agctaatttt
     3061 tttgtatttt tagtagagac gggatttcac catgttagcc aggctggtct tgaactcctg
     3121 acctcaggca atccacccgc ctcaggctcg caaagtgctg gaattacagg catgagccac
     3181 tgtgccgggc ctattccttg actttcttaa taaagttgtt ttcactttgc a
//
