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This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]
SHCBP1L (SHC Binding And Spindle Associated 1 Like) is a Protein Coding gene. Diseases associated with SHCBP1L include Myoclonic Cerebellar Dyssynergia. Among its related pathways are Jak Stat Signaling Pathway and MAPK Erk Pathway. An important paralog of this gene is SHCBP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005819 | spindle | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0072687 | meiotic spindle | IEA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Jak Stat Signaling Pathway | ||
2 | MAPK Erk Pathway |
.32
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007112 | male meiosis cytokinesis | IBA | 21873635 |
GO:0007283 | spermatogenesis | IBA,ISS | -- |
GO:0030154 | cell differentiation | IEA | -- |
GO:2001252 | positive regulation of chromosome organization | IEA,ISS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SHCBP1L 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SHCBP1L 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SHCBP1L 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SHCBP1L 30 |
|
||
C16H1ORF14 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Shcbp1l 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Shcbp1l 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C1ORF14 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2784 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | nesd 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs193921086 | Uncertain Significance: Malignant tumor of prostate | 182,939,371(-) | G/T | MISSENSE_VARIANT | |
rs12138972 | - | p.Val491Met |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv477n100 | CNV | gain | 25217958 |
nsv1113200 | CNV | deletion | 24896259 |
nsv548358 | CNV | gain | 21841781 |
nsv946534 | CNV | duplication | 23825009 |
nsv998656 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myoclonic cerebellar dyssynergia |
|
|