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

Gene ID: 10046, updated on 12-Sep-2021

Summary

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
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

See MAMLD1 in Genome Data Viewer
Location:
Xq28
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (150361564..150514178)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149531584..149682448)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene microRNA 2114 Neighboring gene X-ray repair cross complementing 6 pseudogene 2 Neighboring gene myotubularin 1 Neighboring gene myotubularin related protein 1 Neighboring gene cytochrome P450 family 2 subfamily C member 64, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available
Hypospadias 2, X-linked
MedGen: C2677879 OMIM: 300758 GeneReviews: Not available
Compare labs

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mastermind-like domain-containing protein 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001177465.3NP_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_001177466.2NP_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)
    AK094563, AK294478, AW594465, BC136324
    Consensus CDS
    CCDS55525.1
    UniProtKB/Swiss-Prot
    Q13495
  3. NM_005491.5NP_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.
    Source sequence(s)
    AC136957, AC235697, AC235953
    Consensus CDS
    CCDS14693.2
    UniProtKB/Swiss-Prot
    Q13495
    Related
    ENSP00000359428.2, ENST00000370401.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    150361564..150514178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029189.2XP_016884678.1  mastermind-like domain-containing protein 1 isoform X5

    Related
    ENSP00000507454.1, ENST00000683453.1
  2. XM_017029188.1XP_016884677.1  mastermind-like domain-containing protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q13495
    Related
    ENSP00000397438.2, ENST00000426613.5
  3. XM_006724802.4XP_006724865.1  mastermind-like domain-containing protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006724865.1

    UniProtKB/Swiss-Prot
    Q13495
    Related
    ENSP00000506890.1, ENST00000682253.1
  4. XM_011531095.3XP_011529397.1  mastermind-like domain-containing protein 1 isoform X4

    Related
    ENSP00000262858.6, ENST00000262858.8
  5. XM_011531092.3XP_011529394.1  mastermind-like domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011529394.1

  6. XM_024452320.1XP_024308088.1  mastermind-like domain-containing protein 1 isoform X5

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

    Related
    ENSP00000507991.1, ENST00000682016.1
  8. XM_011531093.3XP_011529395.1  mastermind-like domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011529395.1

  9. XM_006724803.4XP_006724866.1  mastermind-like domain-containing protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006724866.1

    UniProtKB/Swiss-Prot
    Q13495
  10. XM_024452318.1XP_024308086.1  mastermind-like domain-containing protein 1 isoform X1

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