Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Mastermind-like domain-containing protein 1

Gene

MAMLD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000013619-MONOMER.
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.

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

HGNCiHGNC:2568. MAMLD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.

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

IntActiQ13495. 1 interactor.

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.
OMAiAFNNAAW.
OrthoDBiEOG091G01SE.
PhylomeDBiQ13495.
TreeFamiTF332922.

Family and domain databases

InterProiIPR026131. MAMLD1.
[Graphical view]
PANTHERiPTHR15275. PTHR15275. 2 hits.

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 → S.1 PublicationCorresponds to variant rs41313406dbSNPEnsembl.1
Natural variantiVAR_030025580Q → R.1 Publication1
Natural variantiVAR_020273662N → S.1 PublicationCorresponds to variant rs2073043dbSNPEnsembl.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

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

IntActiQ13495. 1 interactor.

PTM databases

iPTMnetiQ13495.
PhosphoSitePlusiQ13495.

Polymorphism and mutation databases

BioMutaiMAMLD1.
DMDMi215274020.

Proteomic databases

MaxQBiQ13495.
PaxDbiQ13495.
PeptideAtlasiQ13495.
PRIDEiQ13495.

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

CTDi10046.
DisGeNETi10046.
GeneCardsiMAMLD1.
HGNCiHGNC:2568. MAMLD1.
HPAiHPA003923.
MalaCardsiMAMLD1.
MIMi300120. gene.
300758. phenotype.
neXtProtiNX_Q13495.
OpenTargetsiENSG00000013619.
Orphaneti440. Familial hypospadias.
596. X-linked centronuclear myopathy.
PharmGKBiPA162394950.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000013619-MONOMER.
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.

Miscellaneous databases

ChiTaRSiMAMLD1. human.
GenomeRNAii10046.
PROiQ13495.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000013619.
CleanExiHS_MAMLD1.
ExpressionAtlasiQ13495. baseline and differential.
GenevisibleiQ13495. HS.

Family and domain databases

InterProiIPR026131. MAMLD1.
[Graphical view]
PANTHERiPTHR15275. PTHR15275. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiMAMD1_HUMAN
AccessioniPrimary (citable) accession number: Q13495
Secondary accession number(s): B2RCQ4, B4DG93, B9EGA5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 25, 2008
Last modified: November 2, 2016
This is version 123 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.