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MAMLD1 mastermind like domain containing 1 [ Homo sapiens (human) ]

Gene ID: 10046, updated on 3-Apr-2024

Summary

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Official Symbol
MAMLD1provided by HGNC
Official Full Name
mastermind like domain containing 1provided by HGNC
Primary source
HGNC:HGNC:2568
See related
Ensembl:ENSG00000013619 MIM:300120; AllianceGenome:HGNC:2568
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CG1; F18; HYSP2; CXorf6
Summary
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]
Expression
Broad expression in testis (RPKM 8.2), ovary (RPKM 6.7) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
Xq28
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (150361572..150514173)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (148629198..148781835)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149529839..149682443)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:149406763-149407264 Neighboring gene microRNA 2114 Neighboring gene X-ray repair cross complementing 6 pseudogene 2 Neighboring gene uncharacterized LOC124905223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:149733744-149734666 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:149734667-149735588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30022 Neighboring gene myotubularin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30024 Neighboring gene myotubularin related protein 1 Neighboring gene cytochrome P450 family 2 subfamily C member 64, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MAMLD1 and Differences/Disorders of Sex Development: An Update. Miyado M, et al. Sex Dev, 2022. PMID 34695834
  2. [Advance in research on the role of MAMLD1 gene in disorders of sex development]. Gao F, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2021 Sep 10. PMID 34487543
  3. Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. Li L, et al. Front Endocrinol (Lausanne), 2020. PMID 33424767, Free PMC Article
  4. Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature. Li L, et al. Orphanet J Rare Dis, 2020 Jul 20. PMID 32690052, Free PMC Article
  5. Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome. Aloui C, et al. J Med Genet, 2020 May. PMID 31924698

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.
    Title: Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.
  2. MAMLD1 and Differences/Disorders of Sex Development: An Update.
    Title: MAMLD1 and Differences/Disorders of Sex Development: An Update.
  3. The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease.
    Title: The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease.
  4. [Advance in research on the role of MAMLD1 gene in disorders of sex development].
    Title: [Advance in research on the role of MAMLD1 gene in disorders of sex development].
  5. Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.
    Title: Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.
  6. Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
    Title: Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
  7. Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.
    Title: Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.
  8. Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas.
    Title: Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas.
  9. Nuclear localization of Yes associated protein 1 (YAP1)-mastermind like domain containing 1 (MAMLD1) protein is mediated by MAMLD1 and independent of YAP1-Ser127 phosphorylation.
    Title: YAP1 subgroup supratentorial ependymoma requires TEAD and nuclear factor I-mediated transcriptional programmes for tumorigenesis.
  10. Study provides evidence that MAMLD1 transcription is up-regulated in patients with 46,XX testicular and ovotesticular disorders of sex development.
    Title: NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hypospadias 2, X-linked
MedGen: C2677879 OMIM: 300758 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of mastermind-like domain containing 1 (MAMLD1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in male gonad development IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
  
is_active_in nuclear body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
mastermind-like domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017093.2 RefSeqGene

    Range
    87157..155881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001177465.3 → NP_001170936.1  mastermind-like domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001170936.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK094563, AK294478, AW594465, DC320452
    Consensus CDS
    CCDS55526.1
    UniProtKB/Swiss-Prot
    Q13495
    Related
    ENSP00000414517.2, ENST00000432680.7

  2. NM_001177466.3 → NP_001170937.1  mastermind-like domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001170937.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a shorter 5' UTR and multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC136957, AC235697, AC235953
    Consensus CDS
    CCDS55525.1
    UniProtKB/TrEMBL
    A0A804HJ96
    Related
    ENSP00000397438.2, ENST00000426613.5

  3. NM_001400512.1 → NP_001387441.1  mastermind-like domain-containing protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC136957, AC235697, AC235953
    Consensus CDS
    CCDS94683.1
    UniProtKB/TrEMBL
    A0A804HKM8

  4. NM_001400513.1 → NP_001387442.1  mastermind-like domain-containing protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC136957, AC235697, AC235953
    Consensus CDS
    CCDS94682.1
    UniProtKB/TrEMBL
    A0A8C8KAR0
    Related
    ENSP00000262858.6, ENST00000262858.8

  5. NM_001400514.1 → NP_001387443.1  mastermind-like domain-containing protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC136957, AC235697, AC235953
    Consensus CDS
    CCDS94684.1
    UniProtKB/TrEMBL
    A0A804HJD4
    Related
    ENSP00000507454.1, ENST00000683453.1

  6. NM_001400515.1 → NP_001387444.1  mastermind-like domain-containing protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: Variants 2 and 7 encode the same isoform (2).
    Source sequence(s)
    AC136957, AC235697, AC235953
    Consensus CDS
    CCDS14693.2
    UniProtKB/Swiss-Prot
    B2RCQ4, B4DG93, B9EGA5, Q13495
    Related
    ENSP00000506890.1, ENST00000682253.1

  7. NM_005491.5 → NP_005482.2  mastermind-like domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_005482.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a shorter 5' UTR and has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. Variants 2 and 7 encode the same isoform (2).
    Source sequence(s)
    AC136957, AC235697, AC235953
    Consensus CDS
    CCDS14693.2
    UniProtKB/Swiss-Prot
    B2RCQ4, B4DG93, B9EGA5, Q13495
    UniProtKB/TrEMBL
    A0A804HJ96
    Related
    ENSP00000359428.2, ENST00000370401.7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    150361572..150514173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441709.1 → XP_047297665.1  mastermind-like domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A804HKM8

  2. XM_024452317.2 → XP_024308085.1  mastermind-like domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A804HKM8
    Related
    ENSP00000507991.1, ENST00000682016.1

  3. XM_011531092.4 → XP_011529394.1  mastermind-like domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011529394.1

    UniProtKB/TrEMBL
    A0A804HKM8

  4. XM_047441710.1 → XP_047297666.1  mastermind-like domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A804HKM8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    148629198..148781835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326280.1 → XP_054182255.1  mastermind-like domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A804HKM8

  2. XM_054326279.1 → XP_054182254.1  mastermind-like domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A804HKM8

  3. XM_054326278.1 → XP_054182253.1  mastermind-like domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A804HKM8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13495.2 GenPept UniProtKB/Swiss-Prot:Q13495

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