Seroatlas · Human Serome Atlas

MAML1

Mastermind-like protein 1

Also known as: KIAA0200, Mam-1, MAML1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q92585
Gene: MAML1
Ensembl: ENSG00000161021
Chromosome: 5
Canonical length: 1016 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1016 residues, UniProt reviewed canonical sequence.

>Q92585|MAML1
     1  MVLPTCPMAE FALPRHSAVM ERLRRRIELC RRHHSTCEAR YEAVSPERLE LERQHTFALH
    61  QRCIQAKAKR AGKHRQPPAA TAPAPAAPAP RLDAADGPEH GRPATHLHDT VKRNLDSATS
   121  PQNGDQQNGY GDLFPGHKKT RREAPLGVAI SSNGLPPASP LGQSDKPSGA DALQSSGKHS
   181  LGLDSLNKKR LADSSLHLNG GSNPSESFPL SLNKELKQEP VEDLPCMITG TVGSISQSNL
   241  MPDLNLNEQE WKELIEELNR SVPDEDMKDL FNEDFEEKKD PESSGSATQT PLAQDINIKT
   301  EFSPAAFEQE QLGSPQVRAG SAGQTFLGPS SAPVSTDSPS LGGSQTLFHT SGQPRADNPS
   361  PNLMPASAQA QNAQRALAGV VLPSQGPGGA SELSSAHQLQ QIAAKQKREQ MLQNPQQATP
   421  APAPGQMSTW QQTGPSHSSL DVPYPMEKPA SPSSYKQDFT NSKLLMMPSV NKSSPRPGGP
   481  YLQPSHVNLL SHQPPSNLNQ NSANNQGSVL DYGNTKPLSH YKADCGQGSP GSGQSKPALM
   541  AYLPQQLSHI SHEQNSLFLM KPKPGNMPFR SLVPPGQEQN PSSVPVQAQA TSVGTQPPAV
   601  SVASSHNSSP YLSSQQQAAV MKQHQLLLDQ QKQREQQQKH LQQQQFLQRQ QHLLAEQEKQ
   661  QFQRHLTRPP PQYQDPTQGS FPQQVGQFTG SSAAVPGMNT LGPSNSSCPR VFPQAGNLMP
   721  MGPGHASVSS LPTNSGQQDR GVAQFPGSQN MPQSSLYGMA SGITQIVAQP PPQATNGHAH
   781  IPRQTNVGQN TSVSAAYGQN SLGSSGLSQQ HNKGTLNPGL TKPPVPRVSP AMGGQNSSWQ
   841  HQGMPNLSGQ TPGNSNVSPF TAASSFHMQQ QAHLKMSSPQ FSQAVPNRPM APMSSAAAVG
   901  SLLPPVSAQQ RTSAPAPAPP PTAPQQGLPG LSPAGPELGA FSQSPASQMG GRAGLHCTQA
   961  YPVRTAGQEL PFAYSGQPGG SGLSSVAGHT DLIDSLLKNR TSEEWMSDLD DLLGSQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAML1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.68
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 22 nTPM
ovary: 19 nTPM
endometrium: 17 nTPM
cervix: 17 nTPM
colon: 17 nTPM
fallopian tube: 17 nTPM

Single-cell type

choroid plexus epithelial cells: 39 nCPM
microglia: 39 nCPM
distal convoluted tubule cells: 38 nCPM
proximal tubule cells: 37 nCPM
brain excitatory neurons: 32 nCPM
renal collecting duct intercalated cells: 32 nCPM

Immune cell

eosinophil: 1 nTPM
memory B-cell: 0.7 nTPM
neutrophil: 0.7 nTPM
classical monocyte: 0.5 nTPM
naive B-cell: 0.5 nTPM
non-classical monocyte: 0.5 nTPM

Brain region

basal ganglia: 1.7 nTPM
medulla oblongata: 1.6 nTPM
white matter: 1.5 nTPM
cerebellum: 1.4 nTPM
cerebral cortex: 1.2 nTPM
choroid plexus: 1.2 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.15
gnomAD pLI: 1
gnomAD missense Z: 0.48
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MAML1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MAML1 as an antibody target. Whether an autoantibody or antibody against MAML1 could matter depends on whether native MAML1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAML1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MAML1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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