Q9BQC3 · DPH2_HUMAN

  • Protein
    2-(3-amino-3-carboxypropyl)histidine synthase subunit 2
  • Gene
    DPH2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:32576952).
DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase (By similarity).
Facilitates the reduction of the catalytic iron-sulfur cluster found in the DPH1 subunit (By similarity).

Cofactor

[4Fe-4S] cluster (UniProtKB | Rhea| CHEBI:49883 )

Note: Binds 1 [4Fe-4S] cluster per subunit. The cluster facilitates the reduction of the catalytic iron-sulfur cluster in the DPH1 subunit.

Pathway

Protein modification; peptidyl-diphthamide biosynthesis.

Features

Showing features for binding site.

148950100150200250300350400450
TypeIDPosition(s)Description
Binding site89[4Fe-4S] cluster (UniProtKB | ChEBI)
Binding site110[4Fe-4S] cluster (UniProtKB | ChEBI)
Binding site341[4Fe-4S] cluster (UniProtKB | ChEBI)

GO annotations

AspectTerm
Cellular Componentcytosol
Cellular Componentprotein-containing complex
Molecular Function2-(3-amino-3-carboxypropyl)histidine synthase activity
Molecular Function4 iron, 4 sulfur cluster binding
Molecular Functionmetal ion binding
Biological Processprotein histidyl modification to diphthamide

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    2-(3-amino-3-carboxypropyl)histidine synthase subunit 2
  • Alternative names
    • Diphthamide biosynthesis protein 2
    • Diphtheria toxin resistance protein 2
    • S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2

Gene names

    • Name
      DPH2
    • Synonyms
      DPH2L2

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q9BQC3
  • Secondary accessions
    • A8MVC9
    • B2RDE3
    • B4DNI8
    • O60623

Proteomes

Organism-specific databases

Subcellular Location

Disease & Variants

Involvement in disease

Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 (DEDSSH2)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive syndrome characterized by developmental delay with variably impaired intellectual development and speech delay, short stature, abnormal head circumference, dysmorphic facial features, and sparse scalp hair. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies.
  • See also
    MIM:620062
Natural variants in DEDSSH2
Variant IDPosition(s)ChangeDescription
VAR_086299201R>Cin DEDSSH2; severely impairs diphthamide modification of elongation factor 2; dbSNP:rs767455462
VAR_086300308-489missingin DEDSSH2; severely impairs diphthamide modification of elongation factor 2; dbSNP:rs755058688

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_086299201in DEDSSH2; severely impairs diphthamide modification of elongation factor 2; dbSNP:rs767455462
Natural variantVAR_086300308-489in DEDSSH2; severely impairs diphthamide modification of elongation factor 2; dbSNP:rs755058688

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 580 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for modified residue, chain, modified residue (large scale data).

TypeIDPosition(s)SourceDescription
Modified residue1UniProtN-acetylmethionine
ChainPRO_00003078891-489UniProt2-(3-amino-3-carboxypropyl)histidine synthase subunit 2
Modified residue7UniProtPhosphoserine
Modified residue (large scale data)7PRIDEPhosphoserine
Modified residue435UniProtPhosphothreonine
Modified residue (large scale data)435PRIDEPhosphothreonine
Modified residue446UniProtPhosphoserine
Modified residue (large scale data)446PRIDEPhosphoserine
Modified residue456UniProtPhosphoserine
Modified residue467UniProtPhosphothreonine
Modified residue (large scale data)467PRIDEPhosphothreonine
Modified residue (large scale data)474PRIDEPhosphoserine
Modified residue488UniProtPhosphoserine
Modified residue (large scale data)488PRIDEPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Strongly expressed in skeletal muscle. Moderately expressed in heart, small intestine, liver, pancreas, testis and colon. Weakly expressed in brain, placenta, kidney, spleen, thymus, prostate, ovary and lymphocytes.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Component of the 2-(3-amino-3-carboxypropyl)histidine synthase complex composed of DPH1, DPH2, DPH3 and a NADH-dependent reductase (By similarity).
Interacts with DPH1 (By similarity).

Binary interactions

View interactors in UniProtKB
View CPX-7849 in Complex Portal

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Sequence similarities

Belongs to the DPH1/DPH2 family. DPH2 subfamily.

Phylogenomic databases

Family and domain databases

Sequence & Isoforms

Align isoforms (3)
  • Sequence status
    Complete

This entry describes 3 isoforms produced by Alternative splicing.

Q9BQC3-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    489
  • Mass (Da)
    52,083
  • Last updated
    2001-06-01 v1
  • Checksum
    2908FB7E816E3AEF
MESMFSSPAEAALQRETGVPGLLTPLPDLDGVYELERVAGFVRDLGCERVALQFPDQLLGDAVAVAARLEETTGSKMFILGDTAYGSCCVDVLGAEQAGAQALIHFGPACLSPPARPLPVAFVLRQRSVALELCVKAFEAQNPDPKAPVVLLSEPACAHALEALATLLRPRYLDLLVSSPAFPQPVGSLSPEPMPLERFGRRFPLAPGRRLEEYGAFYVGGSKASPDPDLDPDLSRLLLGWAPGQPFSSCCPDTGKTQDEGARAGRLRARRRYLVERARDARVVGLLAGTLGVAQHREALAHLRNLTQAAGKRSYVLALGRPTPAKLANFPEVDVFVLLACPLGALAPQLSGSFFQPILAPCELEAACNPAWPPPGLAPHLTHYADLLPGSPFHVALPPPESELWETPDVSLITGDLRPPPAWKSSNDHGSLALTPRPQLELAESSPAASFLSSRSWQGLEPRLGQTPVTEAVSGRRGIAIAYEDEGSG

Q9BQC3-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Q9BQC3-3

  • Name
    3
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 1-26: MESMFSSPAEAALQRETGVPGLLTPL → MLWLWLHDWRRRQGQRCSFWVTQPTA
    • 27-161: Missing

Computationally mapped potential isoform sequences

There are 6 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
H0YCR5H0YCR5_HUMANDPH2262
E9PPU3E9PPU3_HUMANDPH2102
E9PLL2E9PLL2_HUMANDPH2100
E9PMH7E9PMH7_HUMANDPH2147
E9PIY4E9PIY4_HUMANDPH293
E9PJH6E9PJH6_HUMANDPH252

Features

Showing features for alternative sequence, sequence conflict.

TypeIDPosition(s)Description
Alternative sequenceVSP_0560521-26in isoform 3
Alternative sequenceVSP_05605327-161in isoform 3
Sequence conflict125-153in Ref. 1; AAC18086
Alternative sequenceVSP_047151162-389in isoform 2
Sequence conflict266in Ref. 1; AAC18086
Sequence conflict435in Ref. 1; AAC18086
Sequence conflict449in Ref. 1; AAC18086

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AF053003
EMBL· GenBank· DDBJ
AAC18086.1
EMBL· GenBank· DDBJ
mRNA
AK297933
EMBL· GenBank· DDBJ
BAG60250.1
EMBL· GenBank· DDBJ
mRNA
AK315506
EMBL· GenBank· DDBJ
BAG37890.1
EMBL· GenBank· DDBJ
mRNA
BT007431
EMBL· GenBank· DDBJ
AAP36099.1
EMBL· GenBank· DDBJ
mRNA
AL357079
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
CH471059
EMBL· GenBank· DDBJ
EAX07070.1
EMBL· GenBank· DDBJ
Genomic DNA
BC001389
EMBL· GenBank· DDBJ
AAH01389.1
EMBL· GenBank· DDBJ
mRNA
BC003181
EMBL· GenBank· DDBJ
AAH03181.1
EMBL· GenBank· DDBJ
mRNA
BC016956
EMBL· GenBank· DDBJ
AAH16956.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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