TMEM41B transmembrane protein 41B [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM41Bprovided by HGNC
Official Full Name: transmembrane protein 41Bprovided by HGNC
Primary source: HGNC:HGNC:28948
See related: Ensembl:ENSG00000166471 MIM:620271; AllianceGenome:HGNC:28948
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
Summary: Enables phospholipid scramblase activity. Involved in autophagosome assembly and intracellular lipid transport. Located in mitochondria-associated endoplasmic reticulum membrane contact site. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression: Ubiquitous expression in duodenum (RPKM 11.2), thyroid (RPKM 10.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (9280654..9314593, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (9365480..9400673, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (9302201..9336140, complement)

Chromosome 11 - NC_000011.10 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 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?

VMP1 and TMEM41B are essential for DMV formation during beta-coronavirus infection.
Title: VMP1 and TMEM41B are essential for DMV formation during β-coronavirus infection.
TMEM41B is a host factor required for the replication of diverse coronaviruses including SARS-CoV-2.
Title: TMEM41B is a host factor required for the replication of diverse coronaviruses including SARS-CoV-2.
TMEM41B Is a Pan-flavivirus Host Factor.
Title: TMEM41B Is a Pan-flavivirus Host Factor.
TMEM41B is an integral endoplasmic reticulum (ER) membrane protein distantly related to the established autophagy factor vacuole membrane protein 1 (VMP1), and the data show that these two factors play related, albeit not fully overlapping, roles in autophagosome biogenesis.
Title: CRISPR screening using an expanded toolkit of autophagy reporters identifies TMEM41B as a novel autophagy factor.
These results suggest that TMEM41B and VMP1 function together at an early step of autophagosome formation.
Title: Genome-wide CRISPR screen identifies TMEM41B as a gene required for autophagosome formation.
TMEM41B is a novel ER-localized regulator of autophagosome biogenesis and lipid mobilization.
Title: TMEM41B is a novel regulator of autophagy and lipid mobilization.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-53040 (e-PCR)
- UniSTS:51806

RH46487 (e-PCR)
- UniSTS:25192

D11S2390 (e-PCR)
- UniSTS:81258

D10S16 (e-PCR)
- UniSTS:155756

D1S1425 (e-PCR)
- UniSTS:149621

RH36905 (e-PCR)
- UniSTS:87932

D11S3114 (e-PCR)
- UniSTS:152207

RH94006 (e-PCR)
- UniSTS:86691

D11S2268E (e-PCR)
- UniSTS:28866

RH17400 (e-PCR)
- UniSTS:46310

RH25271 (e-PCR)
- UniSTS:90367

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phospholipid scramblase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular lipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation by host of viral RNA genome replication	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane phospholipid scrambling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondria-associated endoplasmic reticulum membrane contact site	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transmembrane protein 41B

Names: protein stasimon; stasimon

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_001165030.3 → NP_001158502.1 transmembrane protein 41B isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and lacks a large portion of the 3' coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

BE673436, DA149513, DR157551

Consensus CDS

CCDS53600.1

UniProtKB/Swiss-Prot

Q5BJD5

Related

ENSP00000436480.1, ENST00000533723.1
NM_015012.4 → NP_055827.1 transmembrane protein 41B isoform 1

See identical proteins and their annotated locations for NP_055827.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC055845, BI829492, D26067

Consensus CDS

CCDS31424.1

UniProtKB/Swiss-Prot

D3DQU9, E9PP29, Q15055, Q4G0P0, Q5BJD5

UniProtKB/TrEMBL

B4E0E0

Related

ENSP00000433126.1, ENST00000528080.6

Conserved Domains (1) summary

pfam09335
Location:129 → 248

SNARE_assoc; SNARE associated Golgi protein

RNA

NR_028491.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC091524, BI829492, N54391