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Protein

Mastermind-like domain-containing protein 1

Gene

MAMLD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

  • male gonad development Source: UniProtKB

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1912408 Pre-NOTCH Transcription and Translation
R-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2197563 NOTCH2 intracellular domain regulates transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-350054 Notch-HLH transcription pathway
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mastermind-like domain-containing protein 1
Alternative name(s):
F18
Protein CG1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MAMLD1
Synonyms:CG1, CXorf6
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000013619.13

Human Gene Nomenclature Database

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HGNCi
HGNC:2568 MAMLD1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300120 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q13495

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypospadias 2, X-linked (HYSP2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome.
See also OMIM:300758

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi176L → P: Reduces transcriptional activation of the HES3 promoter. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
10046

MalaCards human disease database

More...
MalaCardsi
MAMLD1
MIMi300758 phenotype

Open Targets

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OpenTargetsi
ENSG00000013619

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
440 Familial hypospadias
456328 X-linked myotubular myopathy-abnormal genitalia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162394950

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MAMLD1

Domain mapping of disease mutations (DMDM)

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DMDMi
215274020

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000895921 – 774Mastermind-like domain-containing protein 1Add BLAST774

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei676PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
Q13495

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q13495

PeptideAtlas

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PeptideAtlasi
Q13495

PRoteomics IDEntifications database

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PRIDEi
Q13495

ProteomicsDB human proteome resource

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ProteomicsDBi
59492
59493 [Q13495-3]
59494 [Q13495-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13495

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q13495

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin, testis, uterus. Highly expressed in skeletal muscle.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By NR5A1.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000013619 Expressed in 147 organ(s), highest expression level in right testis

CleanEx database of gene expression profiles

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CleanExi
HS_MAMLD1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13495 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13495 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA003923

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115357, 1 interactor

Protein interaction database and analysis system

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IntActi
Q13495, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000414517

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q13495

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi348 – 359Poly-ProAdd BLAST12
Compositional biasi492 – 502Poly-GlnAdd BLAST11
Compositional biasi595 – 606Poly-GlnAdd BLAST12

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the mastermind family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IF3V Eukaryota
ENOG4111FBA LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00730000111366

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113472

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG106752

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13495

KEGG Orthology (KO)

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KOi
K19512

Identification of Orthologs from Complete Genome Data

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OMAi
SGCQTVH

Database of Orthologous Groups

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OrthoDBi
EOG091G01SE

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q13495

TreeFam database of animal gene trees

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TreeFami
TF332922

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026131 MAMLD1

The PANTHER Classification System

More...
PANTHERi
PTHR15275 PTHR15275, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13495-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MDDWKSRLVI KSMLPHFAMV GNRQEPRKLQ ESGKKPSWME EEDLSFLYKS
60 70 80 90 100
SPGRKHQGTV KRRQEEDHFQ FPDMADGGYP NKIKRPCLED VTLAMGPGAH
110 120 130 140 150
PSTACAELQV PPLTINPSPA AMGVAGQSLL LENNPMNGNI MGSPFVVPQT
160 170 180 190 200
TEVGLKGPTV PYYEKINSVP AVDQELQELL EELTKIQDPS PNELDLEKIL
210 220 230 240 250
GTKPEEPLVL DHPQATLSTT PKPSVQMSHL ESLASSKEFA SSCSQVTGMS
260 270 280 290 300
LQIPSSSTGI SYSIPSTSKQ IVSPSSSMAQ SKSQVQAMLP VALPPLPVPQ
310 320 330 340 350
WHHAHQLKAL AASKQGSATK QQGPTPSWSG LPPPGLSPPY RPVPSPHPPP
360 370 380 390 400
LPLPPPPPPF SPQSLMVSCM SSNTLSGSTL RGSPNALLSS MTSSSNAALG
410 420 430 440 450
PAMPYAPEKL PSPALTQQPQ FGPQSSILAN LMSSTIKTPQ GHLMSALPAS
460 470 480 490 500
NPGPSPPYRP EKLSSPGLPQ QSFTPQCSLI RSLTPTSNLL SQQQQQQQQQ
510 520 530 540 550
QQANVIFKPI SSNSSKTLSM IMQQGMASSS PGATEPFTFG NTKPLSHFVS
560 570 580 590 600
EPGPQKMPSM PTTSRQPSLL HYLQQPTPTQ ASSATASSTA TATLQLQQQQ
610 620 630 640 650
QQQQQQPDHS SFLLQQMMQQ PQRFQRSVAS DSMPALPRQG CCHLFAWTSA
660 670 680 690 700
ASSVKPQHQH GNSFTSRQDP QPGDVSPSNI THVDKACKLG EARHPQVSLG
710 720 730 740 750
RQPPSCQALG SESFLPGSSF AHELARVTSS YSTSEAAPWG SWDPKAWRQV
760 770
PAPLLPSCDA TARGTEIRSY GNDP
Length:774
Mass (Da):83,231
Last modified:November 25, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF8CDD865CBD86AF7
GO
Isoform 2 (identifier: Q13495-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     33-57: Missing.
     640-774: GCCHLFAWTS...TEIRSYGNDP → QEEQRSGLMA...GQVTQDAGAL

Show »
Length:998
Mass (Da):106,498
Checksum:i3F79B3016694B544
GO
Isoform 3 (identifier: Q13495-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     33-57: Missing.

Show »
Length:749
Mass (Da):80,284
Checksum:i9F877335BCA4FCD4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WAK3F8WAK3_HUMAN
Mastermind-like domain-containing p...
MAMLD1
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC50551 differs from that shown. Reason: Frameshift at position 59.Curated
The sequence BAG37651 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti61K → N in AAC50551 (PubMed:8640223).Curated1
Sequence conflicti340Y → S in AAC50551 (PubMed:8640223).Curated1
Sequence conflicti346 – 347PH → LQ in AAC50551 (PubMed:8640223).Curated2
Sequence conflicti520M → T in BAG37651 (PubMed:14702039).Curated1
Sequence conflicti640G → V in AAC50551 (PubMed:8640223).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_030024359P → S1 PublicationCorresponds to variant dbSNP:rs41313406Ensembl.1
Natural variantiVAR_030025580Q → R1 Publication1
Natural variantiVAR_020273662N → S1 PublicationCorresponds to variant dbSNP:rs2073043Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03765433 – 57Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_037655640 – 774GCCHL…YGNDP → QEEQRSGLMAMTPERQNAYI SQQMSPFEAVQEQVTSKCSR IKASPPSSKHLMPPRTGLLQ NNLSPGMIPLTRHQSCEGMG VISPTLGKRQGIFTSSPQCP ILSHSGQTPLGRLDSVCQHM QSPKATPPEVPLPGFCPSSL GTQSLSPHQLRRPSVPRMPT AFNNAAWVTAAAAVTTAVSG KTPLSQVDNSVQQHSPSGQA CLQRPSDWEAQVPAAMGTQV PLANNPSFSLLGSQSLRQSP VQGPVPVANTTKFLQQGMAS FSPLSPIQGIEPPSYVAAAA TAAAASAVAASQFPGPFDRT DIPPELPPADFLRQPQPPLN DLISSPDCNEVDFIEALLKG SCVSPDEDWVCNLRLIDDIL EQHAAAQNATAQNSGQVTQD AGAL in isoform 2. 1 PublicationAdd BLAST135

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U46023 mRNA Translation: AAC50551.1 Frameshift.
AK294478 mRNA Translation: BAG57704.1
AK315217 mRNA Translation: BAG37651.1 Different initiation.
AC109994 Genomic DNA No translation available.
AL034384 Genomic DNA No translation available.
BC136324 mRNA Translation: AAI36325.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14693.2 [Q13495-1]
CCDS55525.1 [Q13495-4]
CCDS55526.1 [Q13495-3]

NCBI Reference Sequences

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RefSeqi
NP_001170936.1, NM_001177465.2 [Q13495-3]
NP_001170937.1, NM_001177466.2 [Q13495-4]
NP_005482.2, NM_005491.4 [Q13495-1]
XP_006724865.1, XM_006724802.3 [Q13495-1]
XP_006724866.1, XM_006724803.3 [Q13495-4]
XP_016884677.1, XM_017029188.1 [Q13495-4]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.20136

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262858; ENSP00000262858; ENSG00000013619 [Q13495-1]
ENST00000370401; ENSP00000359428; ENSG00000013619 [Q13495-1]
ENST00000426613; ENSP00000397438; ENSG00000013619 [Q13495-4]
ENST00000432680; ENSP00000414517; ENSG00000013619 [Q13495-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10046

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10046

UCSC genome browser

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UCSCi
uc004fee.2 human [Q13495-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U46023 mRNA Translation: AAC50551.1 Frameshift.
AK294478 mRNA Translation: BAG57704.1
AK315217 mRNA Translation: BAG37651.1 Different initiation.
AC109994 Genomic DNA No translation available.
AL034384 Genomic DNA No translation available.
BC136324 mRNA Translation: AAI36325.1
CCDSiCCDS14693.2 [Q13495-1]
CCDS55525.1 [Q13495-4]
CCDS55526.1 [Q13495-3]
RefSeqiNP_001170936.1, NM_001177465.2 [Q13495-3]
NP_001170937.1, NM_001177466.2 [Q13495-4]
NP_005482.2, NM_005491.4 [Q13495-1]
XP_006724865.1, XM_006724802.3 [Q13495-1]
XP_006724866.1, XM_006724803.3 [Q13495-4]
XP_016884677.1, XM_017029188.1 [Q13495-4]
UniGeneiHs.20136

3D structure databases

ProteinModelPortaliQ13495
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115357, 1 interactor
IntActiQ13495, 1 interactor
STRINGi9606.ENSP00000414517

PTM databases

iPTMnetiQ13495
PhosphoSitePlusiQ13495

Polymorphism and mutation databases

BioMutaiMAMLD1
DMDMi215274020

Proteomic databases

MaxQBiQ13495
PaxDbiQ13495
PeptideAtlasiQ13495
PRIDEiQ13495
ProteomicsDBi59492
59493 [Q13495-3]
59494 [Q13495-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262858; ENSP00000262858; ENSG00000013619 [Q13495-1]
ENST00000370401; ENSP00000359428; ENSG00000013619 [Q13495-1]
ENST00000426613; ENSP00000397438; ENSG00000013619 [Q13495-4]
ENST00000432680; ENSP00000414517; ENSG00000013619 [Q13495-3]
GeneIDi10046
KEGGihsa:10046
UCSCiuc004fee.2 human [Q13495-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10046
DisGeNETi10046
EuPathDBiHostDB:ENSG00000013619.13

GeneCards: human genes, protein and diseases

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GeneCardsi
MAMLD1
HGNCiHGNC:2568 MAMLD1
HPAiHPA003923
MalaCardsiMAMLD1
MIMi300120 gene
300758 phenotype
neXtProtiNX_Q13495
OpenTargetsiENSG00000013619
Orphaneti440 Familial hypospadias
456328 X-linked myotubular myopathy-abnormal genitalia syndrome
PharmGKBiPA162394950

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF3V Eukaryota
ENOG4111FBA LUCA
GeneTreeiENSGT00730000111366
HOGENOMiHOG000113472
HOVERGENiHBG106752
InParanoidiQ13495
KOiK19512
OMAiSGCQTVH
OrthoDBiEOG091G01SE
PhylomeDBiQ13495
TreeFamiTF332922

Enzyme and pathway databases

ReactomeiR-HSA-1912408 Pre-NOTCH Transcription and Translation
R-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2197563 NOTCH2 intracellular domain regulates transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-350054 Notch-HLH transcription pathway
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MAMLD1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10046

Protein Ontology

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PROi
PR:Q13495

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000013619 Expressed in 147 organ(s), highest expression level in right testis
CleanExiHS_MAMLD1
ExpressionAtlasiQ13495 baseline and differential
GenevisibleiQ13495 HS

Family and domain databases

InterProiView protein in InterPro
IPR026131 MAMLD1
PANTHERiPTHR15275 PTHR15275, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMAMD1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13495
Secondary accession number(s): B2RCQ4, B4DG93, B9EGA5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 134 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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