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SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008]
SHPRH (SNF2 Histone Linker PHD RING Helicase) is a Protein Coding gene. Diseases associated with SHPRH include Xeroderma Pigmentosum, Variant Type. Gene Ontology (GO) annotations related to this gene include ligase activity and helicase activity. An important paralog of this gene is CHD7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0004386 | helicase activity | IEA | -- |
GO:0004842 | ubiquitin-protein transferase activity | IDA | 17108083 |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000786 | nucleosome | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0042025 | host cell nucleus | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IDA | 17108083 |
GO:0006281 | DNA repair | IEA | -- |
GO:0006334 | nucleosome assembly | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IDA | 25023518 |
GO:0016567 | protein ubiquitination | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - |
ExUns: | 21a | · | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | · | 32c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SHPRH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SHPRH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SHPRH 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Shprh 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Shprh 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SHPRH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SHPRH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SHPRH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SHPRH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | shprh 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | shprh 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7376 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007417 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | T05A12.4 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IRC20 31 33 33 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs117008643 | Benign: not provided | 145,919,501(-) |
T/C NM_001042683.3(SHPRH):c.4009-10A>G |
INTRON | |
rs117586623 | Benign: not provided | 145,954,847(-) |
T/G NM_001042683.3(SHPRH):c.476A>C (p.Asp159Ala) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
rs1411096648 | An ovarian cancer cell line |
p.Gln438Arg |
|||
rs1582754487 | Likely Benign: not provided | 145,934,999(-) |
A/G NM_001042683.3(SHPRH):c.2898T>C (p.Thr966=) |
SYNONYMOUS | |
rs200336760 | Likely Benign: not provided | 145,922,843(-) |
C/G NM_001042683.3(SHPRH):c.3546-7G>C |
INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
xeroderma pigmentosum, variant type |
|
|