Version 5.4
| Homo sapiens Gene: MAMLD1 | |||||||||||||||
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| Summary | |||||||||||||||
| InnateDB Gene | IDBG-88738.6 | ||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
| Gene Symbol | MAMLD1 | ||||||||||||||
| Gene Name | mastermind-like domain containing 1 | ||||||||||||||
| Synonyms | CG1; CXorf6; F18; HYSP2 | ||||||||||||||
| Species | Homo sapiens | ||||||||||||||
| Ensembl Gene | ENSG00000013619 | ||||||||||||||
| Encoded Proteins |
mastermind-like domain containing 1
mastermind-like domain containing 1
mastermind-like domain containing 1
mastermind-like domain containing 1
mastermind-like domain containing 1
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||
| Entrez Gene | |||||||||||||||
| Summary |
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] |
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| Gene Information | |||||||||||||||
| Type | Protein coding | ||||||||||||||
| Genomic Location | Chromosome X:150361422-150514178 | ||||||||||||||
| Strand | Forward strand | ||||||||||||||
| Band | q28 | ||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||
| NETPATH | |||||||||||||||
| REACTOME |
NOTCH1 Intracellular Domain Regulates Transcription pathway
Pre-NOTCH Transcription and Translation pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
Notch-HLH transcription pathway pathway
Generic Transcription Pathway pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Pre-NOTCH Expression and Processing pathway
Signaling by NOTCH1 in Cancer pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signal Transduction pathway
Signaling by NOTCH2 pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Signaling by NOTCH pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
NOTCH2 intracellular domain regulates transcription pathway
Gene Expression pathway
Disease pathway
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| KEGG | |||||||||||||||
| INOH | |||||||||||||||
| PID NCI | |||||||||||||||
| Cross-References | |||||||||||||||
| SwissProt | Q13495 | ||||||||||||||
| TrEMBL | |||||||||||||||
| UniProt Splice Variant | |||||||||||||||
| Entrez Gene | 10046 | ||||||||||||||
| UniGene | Hs.20136 | ||||||||||||||
| RefSeq | NM_001177466 XM_005274636 XM_006724803 NM_001177465 NM_005491 XM_006724802 | ||||||||||||||
| HUGO | HGNC:2568 | ||||||||||||||
| OMIM | 300120 | ||||||||||||||
| CCDS | CCDS55525 CCDS14693 CCDS55526 | ||||||||||||||
| HPRD | 02126 | ||||||||||||||
| IMGT | |||||||||||||||
| EMBL | AC109994 AK294478 AK315217 AL034384 BC136324 U46023 | ||||||||||||||
| GenPept | AAC50551 AAI36325 BAG37651 BAG57704 | ||||||||||||||
| RNA Seq Atlas | 10046 | ||||||||||||||