TMEM121B (transmembrane protein 121B)

symbol
TMEM121B
locus group
protein-coding gene
location
22q11.1
gene_family
-
alias symbol
-
alias name
None
entrez id
27439
ensembl gene id
ENSG00000183307
ucsc gene id
uc002zmb.3
refseq accession
NM_031890
hgnc_id
HGNC:1844
approved reserved
2000-01-31
22q11.1
ChineseEnglish

TMEM121B, a member of the transmembrane protein 121 family, encodes a conserved integral membrane protein primarily localized to the endomembrane system, including the endoplasmic reticulum and Golgi apparatus. While its precise molecular function remains under investigation, current evidence suggests that TMEM121B plays a critical role in maintaining the structural integrity and dynamic homeostasis of intracellular membranes, potentially by facilitating vesicular trafficking, protein sorting, or the modulation of organelle morphology through protein-protein interactions. As a typical member of the TMEM superfamily, which is characterized by conserved transmembrane domains and involvement in membrane-associated processes such as transport and signaling, TMEM121B likely contributes to the regulation of lipid metabolism and the secretory pathway. Disruptions in TMEM121B expression or function, whether through loss-of-function mutations that compromise membrane stability or gain-of-function events that perturb endomembrane equilibrium, may lead to endoplasmic reticulum stress, aberrant vesicle transport, and broader cellular dysfunction, highlighting its importance in understanding the mechanistic underpinnings of endomembrane regulation and its potential implications in cellular physiology and pathology.

Nucleotide sequence of TMEM121B:[NCBI]
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Protein Sequence
1MRPALGHPRS VSSASGSFPP PPAAARLQPL FLRGGSFRGR
41RGSGDSSTST STSRGGGGGR RGGGGGSPSS STGAEREDDD
81 ESLSVSKPL VPNAALLGPP AQVGAPAGPA PVAFSSSAAT
121SSSTSTPTSS CSMTAADFGG GAAAGAVGGP GSRSAGGAGG
161T GTGSGASC CPCCCCCGCP DRPGRRGRRR GCAPSPRCRW
201GYQALSVVLL LAQGGLLDLY LIAVTDLYWC SWIATDLVVV
241VG WAIFFAK NSRGRRGGAA SGAHNHHLHH HHAAPPLHLP
281APSAATAGAK ARGARGGAGG AGGGLGAAAA AGEFAFAYLA
321WLI YSIAFT PKVVLILGTS ILDLIELRAP FGTTGFRLTM
361ALSVPLLYSL VRAISEAGAP PGSAGPLLLQ PQRHRAAGCF
401LGTC LDLLD SFTLVELMLE GRVPLPAHLR YLLIAVYFLT
441LASPVLWLYE LNAAAAAAAS WGQASGPGSC SRLLRLLGGC
481LVDVP LLAL RCLLVVSYQQ PLSIFMLKNL FFLGCRGLEA
521LEGCWDRGNR ASPSRARGGY GAPPSAPPPP PPPPQGGSQL
561GHCISE NEG GAHGYVNTLA VASQN
Structure predicted by AlphaFold DB(UniProt: Q9BXQ6). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).
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