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Protein Ontology report - cobalamin trafficking protein CblD (human)
PR:Q9H3L0 - http://purl.obolibrary.org/obo/PR_Q9H3L0
 
  Protein Forms      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:Q9H3L0   
  PRO namecobalamin trafficking protein CblD (human) 
  Synonyms
PRO-Short-label: EXACT:hMMADHC
Gene-based: RELATED:C2orf25 | CL25022 | HSPC161 | MMADHC | My011
Other: EXACT:CblD (human) | methylmalonic aciduria and homocystinuria type D protein, mitochondrial (human)
  Definition"A cobalamin trafficking protein CblD that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q9H3L0] 
  PRO Categoryorganism-gene 
  ParentPR:000010464 cobalamin trafficking protein CblD
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:25221 MMADHC (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 1                                        
         Modification0                                                  Organism-Modification 4                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:Q9H3L0
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Protein Forms Switch to Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

Comp. In Complex?
organism-gene


PR:Q9H3L0
cobalamin trafficking protein CblD (human)
hMMADHC
"A cobalamin trafficking protein CblD that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q9H3L0]

organism-sequence


PR:Q9H3L0-1
cobalamin trafficking protein CblD isoform 1 (human)
hMMADHC/iso:1
"A cobalamin trafficking protein CblD isoform 1 that is encoded in the genome of human." [PRO:DNx]

organism-modification


PR:000048391
cobalamin trafficking protein CblD, transit peptide removed form (human)
hMMADHC/TransPep-
"A cobalamin trafficking protein CblD (human) that has had the transit peptide removed. UniProtKB:Q9H3L0, 39-296." [PRO:DNx, Reactome:R-HSA-3149529]

organism-modification


PR:000061709
cobalamin trafficking protein CblD sequence variant L259P, transit peptide removed form (human)
hMMADHC/var:L259P/TransPep-
"A cobalamin trafficking protein CblD (human) that has a Pro residue at the position equivalent to Leu-259 of the amino acid sequence represented by UniProtKB:Q9H3L0 and that has had the transit peptide removed. UniProtKB:Q9H3L0, 39-296, Leu-259, CHEBI:50342." [PRO:DNx, Reactome:R-HSA-3318587]

organism-modification


PR:000062327
cobalamin trafficking protein CblD sequence variant Y249C, transit peptide removed form (human)
hMMADHC/var:Y249C/TransPep-
"A cobalamin trafficking protein CblD (human) that has a Cys residue at the position equivalent to Tyr-249 of the amino acid sequence represented by UniProtKB:Q9H3L0 and that has had the transit peptide removed. UniProtKB:Q9H3L0, 39-296, Tyr-249, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-3318584]

organism-modification


PR:000064477
cobalamin trafficking protein CblD sequence variant T182N, transit peptide removed form (human)
hMMADHC/var:T182N/TransPep-
"A cobalamin trafficking protein CblD (human) that has an Asn residue at the position equivalent to Thr-182 of the amino acid sequence represented by UniProtKB:Q9H3L0 and that has had the transit peptide removed. UniProtKB:Q9H3L0, 39-296, Thr-182, CHEBI:50347." [PRO:DNx, Reactome:R-HSA-3318599]