MAMLD1
entrez
10046
canonical
uniprot
Q13495
canonical
ensembl
ENSG00000013619
resolver
ensp
ENSP00000262858
resolver
ensp
ENSP00000359428
resolver
ensp
ENSP00000397438
resolver
ensp
ENSP00000414517
resolver
ensp
ENSP00000507454
resolver
ensp
ENSP00000507991
resolver
ensp
ENSP00000572989
resolver
ensp
ENSP00000572990
resolver
ensp
ENSP00000637663
resolver
enst
ENST00000262858
resolver
enst
ENST00000682016
resolver
enst
ENST00000683453
resolver
enst
ENST00000902931
resolver
enst
ENST00000967604
resolver
genesymbol
MAMLD1
resolver
genesymbol_syn
CG1
resolver
genesymbol_syn
CXorf6
resolver
hgnc
HGNC:2568
resolver
uniprot
A0A804HJD4
resolver
uniprot
A0A804HKM8
resolver
uniprot
A0A8C8KAR0
resolver
uniprot
B2RCQ4
resolver
uniprot
B4DG93
resolver
uniprot
B9EGA5
resolver
uniprot_entry
A0A804HJD4_HUMAN
resolver
uniprot_entry
A0A804HKM8_HUMAN
resolver
uniprot_entry
A0A8C8KAR0_HUMAN
resolver
uniprot_entry
MAMD1_HUMAN
resolver
uniprot_sec
B2RCQ4
resolver
uniprot_sec
B4DG93
resolver
uniprot_sec
B9EGA5
resolver
amino_acid_sequence
MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGKKPSWMEEEDLSFLYKSSPGRKHQGTVKRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPAAMGVAGQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELLEELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLSTTPKPSVQMSHLESLASSKEFASSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQSKSQVQAMLPVALPPLPVPQWHHAHQLKALAASKQGSATKQQGPTPSWSGLPPPGLSPPYRPVPSPHPPPLPLPPPPPPFSPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQFGPQSSILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLIRSLTPTSNLLSQQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQGMASSSPGATEPFTFGNTKPLSHFVSEPGPQKMPSMPTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQQQQQQQPDHSSFLLQQMMQQPQRFQRSVASDSMPALPRQGCCHLFAWTSAASSVKPQHQHGNSFTSRQDPQPGDVSPSNITHVDKACKLGEARHPQVSLGRQPPSCQALGSESFLPGSSFAHELARVTSSYSTSEAAPWGSWDPKAWRQVPAPLLPSCDATARGTEIRSYGNDP
uniprot
proteins
disease_involvement
DISEASE: Hypospadias 2, X-linked (HYSP2) [MIM:300758]: A 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. {ECO:0000269|PubMed:17086185}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ. {ECO:0000269|PubMed:18162467}.
uniprot
proteins
mass_dalton
83231
uniprot
proteins
mutagenesis
MUTAGEN 176; /note="L->P: Reduces transcriptional activation of the HES3 promoter."; /evidence="ECO:0000269|PubMed:18162467
uniprot
proteins
protein_family
Mastermind family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17086185
uniprot
proteins
pubmed
18162467
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
8640223
uniprot
proteins
sequence_length
774
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18162467}. Note=Punctate nuclear localization.
uniprot
proteins