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Protein

Mastermind-like domain-containing protein 1

Gene

MAMLD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

Keywordsi

Molecular functionActivator
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1912408 Pre-NOTCH Transcription and Translation
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

Names & Taxonomyi

Protein namesi
Recommended name:
Mastermind-like domain-containing protein 1
Alternative name(s):
F18
Protein CG1
Gene namesi
Name:MAMLD1
Synonyms:CG1, CXorf6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000013619.13
HGNCiHGNC:2568 MAMLD1
MIMi300120 gene
neXtProtiNX_Q13495

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

Pathology & Biotechi

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
Mutagenesisi176L → P: Reduces transcriptional activation of the HES3 promoter. 1 Publication1

Organism-specific databases

DisGeNETi10046
MalaCardsiMAMLD1
MIMi300758 phenotype
OpenTargetsiENSG00000013619
Orphaneti440 Familial hypospadias
596 X-linked centronuclear myopathy
PharmGKBiPA162394950

Polymorphism and mutation databases

BioMutaiMAMLD1
DMDMi215274020

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000895921 – 774Mastermind-like domain-containing protein 1Add BLAST774

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei676PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ13495
PhosphoSitePlusiQ13495

Expressioni

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

Inductioni

By NR5A1.1 Publication

Gene expression databases

BgeeiENSG00000013619
CleanExiHS_MAMLD1
ExpressionAtlasiQ13495 baseline and differential
GenevisibleiQ13495 HS

Organism-specific databases

HPAiHPA003923

Interactioni

Protein-protein interaction databases

BioGridi115357, 1 interactor
IntActiQ13495, 1 interactor
STRINGi9606.ENSP00000414517

Structurei

3D structure databases

ProteinModelPortaliQ13495
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi348 – 359Poly-ProAdd BLAST12
Compositional biasi492 – 502Poly-GlnAdd BLAST11
Compositional biasi595 – 606Poly-GlnAdd BLAST12

Sequence similaritiesi

Belongs to the mastermind family.Curated

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR026131 MAMLD1
PANTHERiPTHR15275 PTHR15275, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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
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
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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMAMD1_HUMAN
AccessioniPrimary (citable) accession number: Q13495
Secondary accession number(s): B2RCQ4, B4DG93, B9EGA5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 25, 2008
Last modified: June 20, 2018
This is version 132 of the entry and version 2 of the sequence. See complete history.
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.

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

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