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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).By similarity

GO - Molecular functioni

  • potassium channel activity Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4949LumenalSequence analysisAdd
BLAST
Transmembranei50 – 7021HelicalSequence analysisAdd
BLAST
Topological domaini71 – 755CytoplasmicSequence analysis
Transmembranei76 – 9621HelicalSequence analysisAdd
BLAST
Topological domaini97 – 14044CytoplasmicSequence analysisAdd
BLAST
Transmembranei141 – 16121HelicalSequence analysisAdd
BLAST
Topological domaini162 – 20746LumenalSequence analysisAdd
BLAST
Transmembranei208 – 22821HelicalSequence analysisAdd
BLAST
Topological domaini229 – 29163CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

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

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

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

Polymorphism and mutation databases

DMDMi74753001.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 291291Trimeric intracellular cation channel type BPRO_0000291524Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei262 – 2621PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NVV0.
MaxQBiQ9NVV0.
PaxDbiQ9NVV0.
PeptideAtlasiQ9NVV0.
PRIDEiQ9NVV0.

PTM databases

iPTMnetiQ9NVV0.
PhosphoSiteiQ9NVV0.

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA018465.

Interactioni

Subunit structurei

Homotrimer.By similarity

Protein-protein interaction databases

BioGridi120454. 8 interactions.
IntActiQ9NVV0. 4 interactions.
STRINGi9606.ENSP00000363824.

Structurei

3D structure databases

ProteinModelPortaliQ9NVV0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The second transmembrane domain has been proposed to cross only half of the lipid bilayer and to loop back into the cytosol, so that the domains on each side of this domain are both found on the cytosolic face of the membrane. The cytosolic loop may form an ion-conducting pore (By similarity).By similarity

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

InterProiIPR007866. TRIC_channel.
[Graphical view]
PANTHERiPTHR12454. PTHR12454. 1 hit.
PfamiPF05197. TRIC. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti32 – 321A → E in CAG33539 (Ref. 2) Curated
Sequence conflicti291 – 2911E → D in CAG33539 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti254 – 2541C → S.
Corresponds to variant rs35232724 [ dbSNP | Ensembl ].
VAR_032811

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9NVV0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120454. 8 interactions.
IntActiQ9NVV0. 4 interactions.
STRINGi9606.ENSP00000363824.

PTM databases

iPTMnetiQ9NVV0.
PhosphoSiteiQ9NVV0.

Polymorphism and mutation databases

DMDMi74753001.

Proteomic databases

EPDiQ9NVV0.
MaxQBiQ9NVV0.
PaxDbiQ9NVV0.
PeptideAtlasiQ9NVV0.
PRIDEiQ9NVV0.

Protocols and materials databases

DNASUi55151.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55151.
GeneCardsiTMEM38B.
HGNCiHGNC:25535. TMEM38B.
HPAiHPA018465.
MalaCardsiTMEM38B.
MIMi611236. gene.
615066. phenotype.
neXtProtiNX_Q9NVV0.
Orphaneti216820. Osteogenesis imperfecta type 4.
PharmGKBiPA134916126.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiTMEM38B. human.
GenomeRNAii55151.
PROiQ9NVV0.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

InterProiIPR007866. TRIC_channel.
[Graphical view]
PANTHERiPTHR12454. PTHR12454. 1 hit.
PfamiPF05197. TRIC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTM38B_HUMAN
AccessioniPrimary (citable) accession number: Q9NVV0
Secondary accession number(s): Q5JR63
, Q5SVN5, Q5SVN6, Q5VTE2, Q6IA97
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2000
Last modified: September 7, 2016
This is version 118 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.