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    MALL mal, T cell differentiation protein like [ Homo sapiens (human) ]

    Gene ID: 7851, updated on 11-Apr-2024

    Summary

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    Official Symbol
    MALLprovided by HGNC
    Official Full Name
    mal, T cell differentiation protein likeprovided by HGNC
    Primary source
    HGNC:HGNC:6818
    See related
    Ensembl:ENSG00000144063 MIM:602022; AllianceGenome:HGNC:6818
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BENE
    Summary
    This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in esophagus (RPKM 101.4), duodenum (RPKM 83.6) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (110083870..110118139, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (110506185..110514140, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (110841447..110875716, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110800236-110800801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:110804612-110805458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:110806307-110807152 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:110811814-110812352 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:110812353-110812891 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:110821474-110821974 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:110839142-110839642 Neighboring gene microRNA 4267 Neighboring gene microRNA 4436b-1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:110863055-110864254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:110872579-110873386 Neighboring gene nephrocystin 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:110906815-110908014 Neighboring gene NANOG hESC enhancer GRCh37_chr2:110925133-110925634 Neighboring gene ACTR1A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16369 Neighboring gene mitoregulin

    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. Searching for non-V kappa transcripts from the human immunoglobulin kappa locus. Lautner-Rieske A, et al. Gene, 1995 Jul 4. PMID 7622049
    2. Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding. Kang HG, et al. Clin Exp Ophthalmol, 2015 Jul. PMID 25401970
    3. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Saunier S, et al. Hum Mol Genet, 1997 Dec. PMID 9361039
    4. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Hildebrandt F, et al. Nat Genet, 1997 Oct. PMID 9326933
    5. Myelin and lymphocyte protein (MAL/MVP17/VIP17) and plasmolipin are members of an extended gene family. Magyar JP, et al. Gene, 1997 Apr 21. PMID 9168137

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort.
      Title: Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding.
    2. in colonic serrated adenomas three genes (TNFRSF10A, BENE, RARA) with strongly significant expression intensities in the oligonucleotide microarray
      Title: Gene profiling of colonic serrated adenomas by using oligonucleotide microarray.
    Submit: New GeneRIF Correction

    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

    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
    Nef nef Genome-wide shRNA screening identifies MALL, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ 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

    Clone Names

    • MGC4419

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cholesterol homeostasis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    MAL-like protein

    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.

    mRNA and Protein(s)

    1. NM_001371559.1 → NP_001358488.1  MAL-like protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC013268
      Conserved Domains (1) summary
      pfam01284
      Location:31 → 144
      MARVEL; Membrane-associating domain

    2. NM_001371560.1 → NP_001358489.1  MAL-like protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC013268

    3. NM_005434.5 → NP_005425.1  MAL-like protein isoform 1

      See identical proteins and their annotated locations for NP_005425.1

      Status: VALIDATED

      Source sequence(s)
      AC013268
      Consensus CDS
      CCDS2085.1
      UniProtKB/Swiss-Prot
      B3KWR6, Q13021, Q9BTU0
      UniProtKB/TrEMBL
      B3KPQ3
      Related
      ENSP00000272462.2, ENST00000272462.3
      Conserved Domains (1) summary
      pfam01284
      Location:23 → 148
      MARVEL; Membrane-associating domain

    RNA

    1. NR_189746.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CP068276

    2. NR_189747.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CP068276

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      110083870..110118139 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445801.1 → XP_047301757.1  MAL-like protein isoform X1

      UniProtKB/Swiss-Prot
      B3KWR6, Q13021, Q9BTU0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      110506185..110514140 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13021.2 GenPept UniProtKB/Swiss-Prot:Q13021

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
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