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Protein

Trimeric intracellular cation channel type B

Gene

TMEM38B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei118Phosphatidylinositol 4,5-bisphosphate (PIP2)By similarity1
Binding sitei122Phosphatidylinositol 4,5-bisphosphate (PIP2)By similarity1

GO - Molecular functioni

  • calcium-activated potassium channel activity Source: GO_Central
  • potassium channel activity Source: BHF-UCL

Keywordsi

Molecular functionIon channel, Potassium channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Protein family/group databases

TCDBi1.A.62.1.3. the homotrimeric cation channel (tric) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Trimeric intracellular cation channel type B
Short name:
TRIC-B
Short name:
TRICB
Alternative name(s):
Transmembrane protein 38B
Gene namesi
Name:TMEM38B
Synonyms:C9orf87
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:25535. TMEM38B.

Subcellular locationi

  • Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 19LumenalCuratedAdd BLAST19
Transmembranei20 – 33Helical;Name=1Sequence analysisAdd BLAST14
Topological domaini34 – 50CytoplasmicCuratedAdd BLAST17
Transmembranei51 – 70Helical;Name=2Sequence analysisAdd BLAST20
Topological domaini71 – 82LumenalCuratedAdd BLAST12
Transmembranei83 – 99Helical;Name=3Sequence analysisAdd BLAST17
Topological domaini100 – 104CytoplasmicCurated5
Transmembranei105 – 121Helical;Name=4Sequence analysisAdd BLAST17
Topological domaini122 – 139LumenalCuratedAdd BLAST18
Transmembranei140 – 156Helical;Name=5Sequence analysisAdd BLAST17
Topological domaini157 – 179CytoplasmicCuratedAdd BLAST23
Transmembranei180 – 195Helical;Name=6Sequence analysisAdd BLAST16
Topological domaini196 – 207LumenalCuratedAdd BLAST12
Transmembranei208 – 227Helical;Name=7Sequence analysisAdd BLAST20
Topological domaini228 – 291CytoplasmicCuratedAdd BLAST64

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • nuclear membrane Source: BHF-UCL
  • nucleus Source: UniProtKB
  • sarcoplasmic reticulum membrane Source: BHF-UCL

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 14 (OI14)2 Publications
The disease is caused by mutations 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.
See also OMIM:615066

Keywords - Diseasei

Osteogenesis imperfecta

Organism-specific databases

DisGeNETi55151.
MalaCardsiTMEM38B.
MIMi615066. phenotype.
OpenTargetsiENSG00000095209.
Orphaneti216820. Osteogenesis imperfecta type 4.
PharmGKBiPA134916126.

Polymorphism and mutation databases

DMDMi74753001.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002915241 – 291Trimeric intracellular cation channel type BAdd BLAST291

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei262PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NVV0.
MaxQBiQ9NVV0.
PaxDbiQ9NVV0.
PeptideAtlasiQ9NVV0.
PRIDEiQ9NVV0.

PTM databases

iPTMnetiQ9NVV0.
PhosphoSitePlusiQ9NVV0.

Expressioni

Gene expression databases

BgeeiENSG00000095209.
CleanExiHS_TMEM38B.
ExpressionAtlasiQ9NVV0. baseline and differential.
GenevisibleiQ9NVV0. HS.

Organism-specific databases

HPAiHPA018465.

Interactioni

Subunit structurei

Homotrimer; trimerization probably requires binding to phosphatidylinositol 4,5-bisphosphate (PIP2).By similarity

Protein-protein interaction databases

BioGridi120454. 11 interactors.
IntActiQ9NVV0. 4 interactors.
STRINGi9606.ENSP00000363824.

Structurei

3D structure databases

ProteinModelPortaliQ9NVV0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM38 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3944. Eukaryota.
ENOG410XQ0P. LUCA.
GeneTreeiENSGT00390000018845.
HOGENOMiHOG000037929.
HOVERGENiHBG059853.
InParanoidiQ9NVV0.
OMAiKMSYPSK.
OrthoDBiEOG091G0GQP.
PhylomeDBiQ9NVV0.
TreeFamiTF313483.

Family and domain databases

InterProiView protein in InterPro
IPR007866. TRIC_channel.
PANTHERiPTHR12454. PTHR12454. 1 hit.
PfamiView protein in Pfam
PF05197. TRIC. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9NVV0-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:291
Mass (Da):32,510
Last modified:October 1, 2000 - v1
Checksum:i1975F1E0053EAE7B
GO

Sequence cautioni

The sequence CAH71458 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI12390 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI12391 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI12392 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI39690 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI39691 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI39692 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti32A → E in CAG33539 (Ref. 2) Curated1
Sequence conflicti291E → D in CAG33539 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032811254C → S. Corresponds to variant dbSNP:rs35232724Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001355 mRNA. Translation: BAA91645.1.
CR457258 mRNA. Translation: CAG33539.1.
AL592488, AL592437, AL627247 Genomic DNA. Translation: CAH71457.1.
AL592488, AL592437, AL627247 Genomic DNA. Translation: CAH71458.1. Sequence problems.
AL627247, AL592437, AL592488 Genomic DNA. Translation: CAI12389.1.
AL627247, AL592437, AL592488 Genomic DNA. Translation: CAI12390.1. Sequence problems.
AL627247 Genomic DNA. Translation: CAI12391.1. Sequence problems.
AL627247, AL592437 Genomic DNA. Translation: CAI12392.1. Sequence problems.
AL592437, AL592488, AL627247 Genomic DNA. Translation: CAI39689.1.
AL592437 Genomic DNA. Translation: CAI39690.1. Different initiation.
AL592437, AL592488, AL627247 Genomic DNA. Translation: CAI39691.1. Sequence problems.
AL592437, AL627247 Genomic DNA. Translation: CAI39692.1. Sequence problems.
BC000049 mRNA. Translation: AAH00049.1.
CCDSiCCDS6768.1.
RefSeqiNP_060582.1. NM_018112.2.
UniGeneiHs.411925.
Hs.618078.

Genome annotation databases

EnsembliENST00000374692; ENSP00000363824; ENSG00000095209.
GeneIDi55151.
KEGGihsa:55151.
UCSCiuc004bcu.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTM38B_HUMAN
AccessioniPrimary (citable) accession number: Q9NVV0
Secondary accession number(s): Q5JR63
, Q5SVN5, Q5SVN6, Q5VTE2, Q6IA97
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2000
Last modified: August 30, 2017
This is version 124 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families