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This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
MAMLD1 (Mastermind Like Domain Containing 1) is a Protein Coding gene. Diseases associated with MAMLD1 include Hypospadias 2, X-Linked and Posterior Hypospadias. Among its related pathways are Signaling by GPCR and Pre-NOTCH Expression and Processing.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005794 | Golgi apparatus | IDA | -- |
GO:0005813 | centrosome | IDA | -- |
GO:0016604 | nuclear body | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Pre-NOTCH Expression and Processing | ||
3 | HIV Life Cycle |
.45
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4 | Gene Expression |
.48
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5 | NOTCH2 Activation and Transmission of Signal to the Nucleus |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0008584 | male gonad development | IEP | 17848411 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAMLD1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAMLD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAMLD1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mamld1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MAMLD1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MAMLD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAMLD1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAMLD1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712305 | Benign: not provided | 150,470,614(+) | C/A | MISSENSE_VARIANT | |
714971 | Benign: not provided | 150,462,831(+) | A/G | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
717644 | Benign: not provided | 150,473,801(+) | T/C | MISSENSE_VARIANT,INTRON_VARIANT | |
724749 | Benign: not provided | 150,503,525(+) | A/T | INTRON_VARIANT | |
726221 | Benign: not provided | 150,470,178(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypospadias 2, x-linked |
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posterior hypospadias |
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hypospadias |
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myotubular myopathy with abnormal genital development |
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androgen insensitivity syndrome |
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