UniProtKB - Q9NVV0 (TM38B_HUMAN)
Protein
Trimeric intracellular cation channel type B
Gene
TMEM38B
Organism
Homo sapiens (Human)
Status
Functioni
Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores.By similarity
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 118 | Phosphatidylinositol 4,5-bisphosphate (PIP2)By similarity | 1 | |
Binding sitei | 122 | Phosphatidylinositol 4,5-bisphosphate (PIP2)By similarity | 1 |
GO - Molecular functioni
- potassium channel activity Source: BHF-UCL
GO - Biological processi
- bone development Source: Ensembl
- bone mineralization Source: Ensembl
- cellular response to caffeine Source: Ensembl
- endoplasmic reticulum organization Source: Ensembl
- extracellular matrix constituent secretion Source: Ensembl
- lung alveolus development Source: Ensembl
- lung epithelial cell differentiation Source: Ensembl
- phospholipid biosynthetic process Source: Ensembl
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: Ensembl
- release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: Ensembl
- secretion by lung epithelial cell involved in lung growth Source: Ensembl
Keywordsi
Molecular function | Ion channel, Potassium channel |
Biological process | Ion transport, Potassium transport, Transport |
Ligand | Potassium |
Enzyme and pathway databases
PathwayCommonsi | Q9NVV0 |
Protein family/group databases
TCDBi | 1.A.62.1.3, the homotrimeric cation channel (tric) family |
Names & Taxonomyi
Protein namesi | Recommended name: Trimeric intracellular cation channel type BShort name: TRIC-B Short name: TRICB Alternative name(s): Transmembrane protein 38B |
Gene namesi | Name:TMEM38B Synonyms:C9orf87 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25535, TMEM38B |
MIMi | 611236, gene |
neXtProti | NX_Q9NVV0 |
VEuPathDBi | HostDB:ENSG00000095209.11 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity
Endoplasmic reticulum
- sarcoplasmic reticulum membrane Source: BHF-UCL
Nucleus
- nuclear membrane Source: BHF-UCL
- nucleus Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 19 | LumenalCuratedAdd BLAST | 19 | |
Transmembranei | 20 – 33 | Helical;Name=1Sequence analysisAdd BLAST | 14 | |
Topological domaini | 34 – 50 | CytoplasmicCuratedAdd BLAST | 17 | |
Transmembranei | 51 – 70 | Helical;Name=2Sequence analysisAdd BLAST | 20 | |
Topological domaini | 71 – 82 | LumenalCuratedAdd BLAST | 12 | |
Transmembranei | 83 – 99 | Helical;Name=3Sequence analysisAdd BLAST | 17 | |
Topological domaini | 100 – 104 | CytoplasmicCurated | 5 | |
Transmembranei | 105 – 121 | Helical;Name=4Sequence analysisAdd BLAST | 17 | |
Topological domaini | 122 – 139 | LumenalCuratedAdd BLAST | 18 | |
Transmembranei | 140 – 156 | Helical;Name=5Sequence analysisAdd BLAST | 17 | |
Topological domaini | 157 – 179 | CytoplasmicCuratedAdd BLAST | 23 | |
Transmembranei | 180 – 195 | Helical;Name=6Sequence analysisAdd BLAST | 16 | |
Topological domaini | 196 – 207 | LumenalCuratedAdd BLAST | 12 | |
Transmembranei | 208 – 227 | Helical;Name=7Sequence analysisAdd BLAST | 20 | |
Topological domaini | 228 – 291 | CytoplasmicCuratedAdd BLAST | 64 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Osteogenesis imperfecta 14 (OI14)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.
Related information in OMIMKeywords - Diseasei
Osteogenesis imperfectaOrganism-specific databases
DisGeNETi | 55151 |
MalaCardsi | TMEM38B |
MIMi | 615066, phenotype |
OpenTargetsi | ENSG00000095209 |
Orphaneti | 216820, Osteogenesis imperfecta type 4 |
PharmGKBi | PA134916126 |
Miscellaneous databases
Pharosi | Q9NVV0, Tbio |
Genetic variation databases
BioMutai | TMEM38B |
DMDMi | 74753001 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000291524 | 1 – 291 | Trimeric intracellular cation channel type BAdd BLAST | 291 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 262 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9NVV0 |
jPOSTi | Q9NVV0 |
MassIVEi | Q9NVV0 |
MaxQBi | Q9NVV0 |
PaxDbi | Q9NVV0 |
PeptideAtlasi | Q9NVV0 |
PRIDEi | Q9NVV0 |
ProteomicsDBi | 82862 |
PTM databases
iPTMneti | Q9NVV0 |
PhosphoSitePlusi | Q9NVV0 |
SwissPalmi | Q9NVV0 |
Expressioni
Gene expression databases
Bgeei | ENSG00000095209, Expressed in sperm and 222 other tissues |
ExpressionAtlasi | Q9NVV0, baseline and differential |
Genevisiblei | Q9NVV0, HS |
Organism-specific databases
HPAi | ENSG00000095209, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Homotrimer; trimerization probably requires binding to phosphatidylinositol 4,5-bisphosphate (PIP2).
By similarityBinary interactionsi
Q9NVV0
With | #Exp. | IntAct |
---|---|---|
AQP1 [P29972] | 3 | EBI-1055114,EBI-745213 |
Protein-protein interaction databases
BioGRIDi | 120454, 28 interactors |
IntActi | Q9NVV0, 9 interactors |
MINTi | Q9NVV0 |
STRINGi | 9606.ENSP00000363824 |
Miscellaneous databases
RNActi | Q9NVV0, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the TMEM38 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3944, Eukaryota |
GeneTreei | ENSGT00390000018845 |
HOGENOMi | CLU_076376_0_0_1 |
InParanoidi | Q9NVV0 |
OMAi | IAVGWAR |
OrthoDBi | 1319985at2759 |
PhylomeDBi | Q9NVV0 |
TreeFami | TF313483 |
Family and domain databases
InterProi | View protein in InterPro IPR007866, TRIC_channel |
PANTHERi | PTHR12454, PTHR12454, 1 hit |
Pfami | View protein in Pfam PF05197, TRIC, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
Q9NVV0-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDSPWDELAL AFSRTSMFPF FDIAHYLVSV MAVKRQPGAA ALAWKNPISS
60 70 80 90 100
WFTAMLHCFG GGILSCLLLA EPPLKFLANH TNILLASSIW YITFFCPHDL
110 120 130 140 150
VSQGYSYLPV QLLASGMKEV TRTWKIVGGV THANSYYKNG WIVMIAIGWA
160 170 180 190 200
RGAGGTIITN FERLVKGDWK PEGDEWLKMS YPAKVTLLGS VIFTFQHTQH
210 220 230 240 250
LAISKHNLMF LYTIFIVATK ITMMTTQTST MTFAPFEDTL SWMLFGWQQP
260 270 280 290
FSSCEKKSEA KSPSNGVGSL ASKPVDVASD NVKKKHTKKN E
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MRS4 | A0A0A0MRS4_HUMAN | Transmembrane protein 38B, isoform ... | TMEM38B hCG_1738357 | 237 | Annotation score: | ||
H7C3B3 | H7C3B3_HUMAN | Trimeric intracellular cation chann... | TMEM38B | 162 | Annotation score: | ||
H7C4C1 | H7C4C1_HUMAN | Trimeric intracellular cation chann... | TMEM38B | 81 | Annotation score: | ||
X6RGH1 | X6RGH1_HUMAN | Trimeric intracellular cation chann... | TMEM38B | 35 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 32 | A → E in CAG33539 (Ref. 2) Curated | 1 | |
Sequence conflicti | 291 | E → D in CAG33539 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032811 | 254 | C → S. Corresponds to variant dbSNP:rs35232724EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001355 mRNA Translation: BAA91645.1 CR457258 mRNA Translation: CAG33539.1 AL592437 Genomic DNA No translation available. AL592488 Genomic DNA No translation available. AL627247 Genomic DNA No translation available. BC000049 mRNA Translation: AAH00049.1 |
CCDSi | CCDS6768.1 |
RefSeqi | NP_060582.1, NM_018112.2 |
Genome annotation databases
Ensembli | ENST00000374692; ENSP00000363824; ENSG00000095209 |
GeneIDi | 55151 |
KEGGi | hsa:55151 |
UCSCi | uc004bcu.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001355 mRNA Translation: BAA91645.1 CR457258 mRNA Translation: CAG33539.1 AL592437 Genomic DNA No translation available. AL592488 Genomic DNA No translation available. AL627247 Genomic DNA No translation available. BC000049 mRNA Translation: AAH00049.1 |
CCDSi | CCDS6768.1 |
RefSeqi | NP_060582.1, NM_018112.2 |
3D structure databases
SMRi | Q9NVV0 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120454, 28 interactors |
IntActi | Q9NVV0, 9 interactors |
MINTi | Q9NVV0 |
STRINGi | 9606.ENSP00000363824 |
Protein family/group databases
TCDBi | 1.A.62.1.3, the homotrimeric cation channel (tric) family |
PTM databases
iPTMneti | Q9NVV0 |
PhosphoSitePlusi | Q9NVV0 |
SwissPalmi | Q9NVV0 |
Genetic variation databases
BioMutai | TMEM38B |
DMDMi | 74753001 |
Proteomic databases
EPDi | Q9NVV0 |
jPOSTi | Q9NVV0 |
MassIVEi | Q9NVV0 |
MaxQBi | Q9NVV0 |
PaxDbi | Q9NVV0 |
PeptideAtlasi | Q9NVV0 |
PRIDEi | Q9NVV0 |
ProteomicsDBi | 82862 |
Protocols and materials databases
Antibodypediai | 14850, 97 antibodies |
DNASUi | 55151 |
Genome annotation databases
Ensembli | ENST00000374692; ENSP00000363824; ENSG00000095209 |
GeneIDi | 55151 |
KEGGi | hsa:55151 |
UCSCi | uc004bcu.3, human |
Organism-specific databases
CTDi | 55151 |
DisGeNETi | 55151 |
GeneCardsi | TMEM38B |
HGNCi | HGNC:25535, TMEM38B |
HPAi | ENSG00000095209, Tissue enhanced (skeletal) |
MalaCardsi | TMEM38B |
MIMi | 611236, gene 615066, phenotype |
neXtProti | NX_Q9NVV0 |
OpenTargetsi | ENSG00000095209 |
Orphaneti | 216820, Osteogenesis imperfecta type 4 |
PharmGKBi | PA134916126 |
VEuPathDBi | HostDB:ENSG00000095209.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3944, Eukaryota |
GeneTreei | ENSGT00390000018845 |
HOGENOMi | CLU_076376_0_0_1 |
InParanoidi | Q9NVV0 |
OMAi | IAVGWAR |
OrthoDBi | 1319985at2759 |
PhylomeDBi | Q9NVV0 |
TreeFami | TF313483 |
Enzyme and pathway databases
PathwayCommonsi | Q9NVV0 |
Miscellaneous databases
BioGRID-ORCSi | 55151, 8 hits in 997 CRISPR screens |
ChiTaRSi | TMEM38B, human |
GenomeRNAii | 55151 |
Pharosi | Q9NVV0, Tbio |
PROi | PR:Q9NVV0 |
RNActi | Q9NVV0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000095209, Expressed in sperm and 222 other tissues |
ExpressionAtlasi | Q9NVV0, baseline and differential |
Genevisiblei | Q9NVV0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007866, TRIC_channel |
PANTHERi | PTHR12454, PTHR12454, 1 hit |
Pfami | View protein in Pfam PF05197, TRIC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TM38B_HUMAN | |
Accessioni | Q9NVV0Primary (citable) accession number: Q9NVV0 Secondary accession number(s): Q5JR63 Q6IA97 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 26, 2007 |
Last sequence update: | October 1, 2000 | |
Last modified: | April 7, 2021 | |
This is version 147 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families