Seroatlas · Human Serome Atlas

MAMLD1

Mastermind-like domain-containing protein 1

Also known as: CG1, CXorf6, F18, MAMD1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q13495
Gene
MAMLD1
Ensembl
ENSG00000013619
Chromosome
X
Canonical length
774 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

Canonical amino-acid sequenceUniProt

774 residues, UniProt reviewed canonical sequence.

>Q13495|MAMLD1
     1  MDDWKSRLVI KSMLPHFAMV GNRQEPRKLQ ESGKKPSWME EEDLSFLYKS SPGRKHQGTV
    61  KRRQEEDHFQ FPDMADGGYP NKIKRPCLED VTLAMGPGAH PSTACAELQV PPLTINPSPA
   121  AMGVAGQSLL LENNPMNGNI MGSPFVVPQT TEVGLKGPTV PYYEKINSVP AVDQELQELL
   181  EELTKIQDPS PNELDLEKIL GTKPEEPLVL DHPQATLSTT PKPSVQMSHL ESLASSKEFA
   241  SSCSQVTGMS LQIPSSSTGI SYSIPSTSKQ IVSPSSSMAQ SKSQVQAMLP VALPPLPVPQ
   301  WHHAHQLKAL AASKQGSATK QQGPTPSWSG LPPPGLSPPY RPVPSPHPPP LPLPPPPPPF
   361  SPQSLMVSCM SSNTLSGSTL RGSPNALLSS MTSSSNAALG PAMPYAPEKL PSPALTQQPQ
   421  FGPQSSILAN LMSSTIKTPQ GHLMSALPAS NPGPSPPYRP EKLSSPGLPQ QSFTPQCSLI
   481  RSLTPTSNLL SQQQQQQQQQ QQANVIFKPI SSNSSKTLSM IMQQGMASSS PGATEPFTFG
   541  NTKPLSHFVS EPGPQKMPSM PTTSRQPSLL HYLQQPTPTQ ASSATASSTA TATLQLQQQQ
   601  QQQQQQPDHS SFLLQQMMQQ PQRFQRSVAS DSMPALPRQG CCHLFAWTSA ASSVKPQHQH
   661  GNSFTSRQDP QPGDVSPSNI THVDKACKLG EARHPQVSLG RQPPSCQALG SESFLPGSSF
   721  AHELARVTSS YSTSEAAPWG SWDPKAWRQV PAPLLPSCDA TARGTEIRSY GNDP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAMLD1 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)
0.71
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • ovary: 11 nTPM
  • testis: 8.2 nTPM
  • cerebral cortex: 5.9 nTPM
  • seminal vesicle: 5.8 nTPM
  • endometrium: 4.8 nTPM
  • hypothalamus: 4.7 nTPM

Single-cell type

  • sertoli cells: 371 nCPM
  • leydig cells: 194 nCPM
  • oligodendrocyte progenitor cells: 143 nCPM
  • monocytes: 117 nCPM
  • cone photoreceptor cells: 110 nCPM
  • gonadotrophs: 110 nCPM

Immune cell

  • memory B-cell: 0.7 nTPM
  • naive CD8 T-cell: 0.7 nTPM
  • T-reg: 0.5 nTPM
  • memory CD4 T-cell: 0.4 nTPM
  • MAIT T-cell: 0.3 nTPM
  • memory CD8 T-cell: 0.3 nTPM

Brain region

  • hypothalamus: 35 nTPM
  • basal ganglia: 25 nTPM
  • cerebral cortex: 24 nTPM
  • amygdala: 23 nTPM
  • hippocampal formation: 22 nTPM
  • pons: 22 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAMLD1.

Disease | AllUniProt

Conditions MAMLD1 is implicated in, by any mechanism.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 282 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hypospadias 2, X-linked
  • 46,XY ovotesticular disorder of sex development

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)
0.45
gnomAD pLI
0.63
gnomAD missense Z
0.6
DepMap mean gene effect
0.12
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Mastermind-like domain-containing protein 1

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MAMLD1 as an antibody target. Whether an autoantibody or antibody against MAMLD1 could matter depends on whether native MAMLD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAMLD1 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 MAMLD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MAMLD1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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