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Gene Model: Cyba

NomenclatureGenomic Location
SymbolCybaChromosome2
NameCytochrome b-245 light chainLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 14 Mbp

Molecular Function

Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding
   protein binding
      protein domain specific binding
         SH3 domain binding
   tetrapyrrole binding
      heme binding

catalytic activity
   oxidoreductase activity
      oxidoreductase activity, acting on NADH or NADPH
         oxidoreductase activity, acting on NADH or NADPH, oxygen as acceptor
            superoxide-generating NADPH oxidase activity

electron carrier activity

Human Disease Association

Defects in CYBA are a cause of chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]. Chronic granulomatous disease is a genetically heterogeneous disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.

Predicted Transcript
     1 ATGGGGCGCATCGAGTGGGCCATGTGGGCCAACGAGCAGGCGCTGGCTTCGGGGCTGATT
    61 CTAGTGGCCGGCGGCATCGTGGCCGTTTCGGGCCAGTTCAAACGTTGGGAATTTGCAGCA
   121 TATGCCATAGCAGCCGGGGTTTTTATTTGCCTGCTGGAATATCCGAGAGGGAAGCGGAAA
   181 AAGGGATCCACGATGCAGAGATGCGGCCAGCAGTATTTCACTCCCGTCGTGAAGGTGTTT
   241 GGACCCCTGACCCGGAATTACTATGTCCGGTCCATCTTACATGCATGCCTGGCCGTGCCA
   301 GCAGGATTCCTCTTGGCCACGATCCTGGGGACGGTTTGCCTTGCCATCGCGAGCGGCATC
   361 TACTTACTGGCGGCCACCCGCGGCGAAGAGTGGCAACCCATTGAGTCCAAGCCCAAGGAG
   421 CGGCCCCAAGTCGGGGGCACCATCAAGCACCCCCCAACCAACCCCCCGCCTCGGCCCCCG
   481 CCGGACGCCCGCAAGAAGCCCCCCGAGGACGGTGCCGGCGGTCAAGAAAACCCCATCGCG
   541 GTCGAAGTGGAAGCGGAGTGA

Predicted Protein Product
MGRIEWAMWANEQALASGLILVAGGIVAVSGQFKRWEFAAYAIAAGVFICLLEYPRGKRK
KGSTMQRCGQQYFTPVVKVFGPLTRNYYVRSILHACLAVPAGFLLATILGTVCLAIASGI
YLLAATRGEEWQPIESKPKERPQVGGTIKHPPTNPPPRPPPDARKKPPEDGAGGQENPIA
VEVEAE
Protein Alignment to Mouse
tr|Q8C5D4|Q8C5D4_MOUSE Putative uncharacterized protein OS=Mus musculus
            GN=Cyba PE=2 SV=1
      MGI:1922020 Hhatl hedgehog acyltransferase-like (Chr 9)
        Length = 187

 Score = 651 (234.2 bits), Expect = 1.6e-64, P = 1.6e-64
 Identities = 130/185 (70%), Positives = 143/185 (77%)

Query:     1 MGRIEWAMWANEQALASGLILVAGGIVAVSGQFKRWEFAAYAIAAGVFICLLEYPRGKRK 60
             MG+IEWAMWANEQALASGLIL+ GGIVA +G+F +W F AY+IAAGV ICLLEYPRGKRK
Sbjct:     1 MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIAAGVLICLLEYPRGKRK 60

Query:    61 KGSTMQRCGQQYFTPVVKVFGPLTRNYYVRSILHACLAVPAGFLLATILGTVCLAIASGI 120
             KGSTM+RCGQ+Y T VVK+FGPLTRNYYVR+ LH  L+VPAGFLLATILGTVCLAIAS I
Sbjct:    61 KGSTMERCGQKYLTSVVKLFGPLTRNYYVRAALHFLLSVPAGFLLATILGTVCLAIASVI 120

Query:   121 YLLAATRGEEWQPIESKPKERPQVGGTIKHXXXXXXXXXXXXXXXXXXEDGAGG-QENPI 179
             YLLAA RGE+W PIE KPKERPQVGGTIK                      AGG Q NP+
Sbjct:   121 YLLAAIRGEQWTPIEPKPKERPQVGGTIKQPPRPPAEVRKKPSEGEKEAASAGGPQVNPM 180

Query:   180 AVEVE 184
              V  E
Sbjct:   181 PVTDE 185