Guide to the Human Genome
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Name: MMACHC Sequence: fasta or formatted (282aa) NCBI GI: 153070822
Description:

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Referenced in:

Vitamin Pathways, Coenzymes, and 1-Carbon Metabolism

Composition:

amino acid map
 Amino acid        Percentage    Count  Longest homopolymer
 A alanine             9.2         26           2
 C cysteine            1.8          5           1
 D aspartate           4.6         13           1
 E glutamate           5.7         16           2
 F phenylalanine       4.6         13           1
 G glycine             5.0         14           2
 H histidine           2.8          8           1
 I isoleucine          3.5         10           2
 K lysine              3.5         10           2
 L leucine             9.9         28           2
 M methionine          1.1          3           1
 N asparagine          1.8          5           1
 P proline            13.8         39           2
 Q glutamine           4.6         13           1
 R arginine            7.1         20           2
 S serine              5.3         15           2
 T threonine           3.9         11           2
 V valine              6.0         17           2
 W tryptophan          2.1          6           1
 Y tyrosine            3.5         10           3
Comparative genomics:

Search single species RefSeq proteins at NCBI
   H. sapiens
   M. musculus
   D. rerio
   C. intestinalis
   S. purpuratus
   D. melanogaster
   C. elegans
   A. thaliana
   S. cerevisiae
   E. coli W3110
   A. pernix K1

Search summary

comparative genomics plot

   Figure data

Additional searches of
RefSeq proteins at NCBI

   All
   Eukaryotes
   Bacteria
   Archaea
   Viruses
   Primates
   Mammals
   Vertebrates

Related human proteins:
Protein          Relative score         Description

Self-match            1.000   methylmalonic aciduria (cobalamin deficiency) cblC ... 
FAM189A1              0.026   hypothetical protein LOC23359 
FLJ22184              0.023   PREDICTED: hypothetical protein FLJ22184 
FLJ22184              0.023   PREDICTED: hypothetical protein FLJ22184 
FLJ22184              0.023   PREDICTED: hypothetical protein LOC80164 
RGL3                  0.021   ral guanine nucleotide dissociation stimulator-like...
MNT                   0.019   MAX binding protein 
LOC100292378          0.018   PREDICTED: hypothetical protein 
MLL                   0.016   myeloid/lymphoid or mixed-lineage leukemia protein [...
RGL3                  0.016   ral guanine nucleotide dissociation stimulator-like...
RAPH1                 0.016   Ras association and pleckstrin homology domains 1 is...
SORBS2                0.016   sorbin and SH3 domain containing 2 isoform 6 
SORBS2                0.016   sorbin and SH3 domain containing 2 isoform 4 
LOC440829             0.016   PREDICTED: transmembrane protein 46-like 
LOC440829             0.016   PREDICTED: transmembrane protein 46-like 
SYNJ1                 0.016   synaptojanin 1 isoform d 
INPP5E                0.016   inositol polyphosphate-5-phosphatase E 
SYNJ1                 0.014   synaptojanin 1 isoform a 
SYNJ1                 0.014   synaptojanin 1 isoform b 
SYNJ1                 0.014   synaptojanin 1 isoform c 
LOC644246             0.014   PREDICTED: hypothetical protein 
MAST3                 0.014   microtubule associated serine/threonine kinase 3 [H...
LOC100131880          0.014   PREDICTED: hypothetical protein 
PRR19                 0.014   proline rich 19 
SAMD1                 0.014   sterile alpha motif domain containing 1 
LMTK3                 0.012   lemur tyrosine kinase 3 
ZFPM1                 0.012   zinc finger protein, multitype 1 
NACA                  0.012   nascent polypeptide-associated complex alpha subuni...
SH3BP1                0.012   SH3-domain binding protein 1 
IRS4                  0.012   insulin receptor substrate 4 
Human BLASTP results (used to prepare the table)

Gene descriptions are from NCBI RefSeq. Search results were obtained with NCBI BLAST and RefSeq entries. When identical proteins are present, the self-match may not be listed first in BLASTP output. In such cases, the table above has been reordered to place it first.

See About the Figures for the scoring system used in the figure above right. The same scoring system was used in the table of BLASTP results.


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Guide to the Human Genome
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