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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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)

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

RH79121 (e-PCR)
- UniSTS:89951

BENE_8767 (e-PCR)
- UniSTS:467584

RH122303 (e-PCR)
- UniSTS:94853

SHGC-62016 (e-PCR)
- UniSTS:43737

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)

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

Status: VALIDATED

Source sequence(s)

AC013268
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