UniProtKB - B3SHH9 (TM114_HUMAN)
Protein
Transmembrane protein 114
Gene
TMEM114
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: Transmembrane protein 114Imported |
Gene namesi | Name:TMEM114Imported |
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
EuPathDBi | HostDB:ENSG00000232258.6 |
HGNCi | HGNC:33227 TMEM114 |
MIMi | 611579 gene |
neXtProti | NX_B3SHH9 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein Sequence analysis
Plasma Membrane
- apical plasma membrane Source: Ensembl
- apicolateral plasma membrane Source: Ensembl
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 7 – 27 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 106 – 126 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 134 – 154 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 189 – 209 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Chromosomal aberrations involving TMEM114 may be a cause of congenital and juvenile cataracts. Translocation t(16;22) (p13.3;q11.2).1 Publication
Organism-specific databases
DisGeNETi | 283953 |
OpenTargetsi | ENSG00000232258 |
PharmGKBi | PA162405852 |
Polymorphism and mutation databases
BioMutai | TMEM114 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000352759 | 1 – 223 | Transmembrane protein 114Add BLAST | 223 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 55 | N-linked (GlcNAc...) asparagineBy similarity | 1 | |
Glycosylationi | 89 | N-linked (GlcNAc...) asparagineBy similarity | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
PaxDbi | B3SHH9 |
PRIDEi | B3SHH9 |
ProteomicsDBi | 3838 |
PTM databases
iPTMneti | B3SHH9 |
PhosphoSitePlusi | B3SHH9 |
Expressioni
Developmental stagei
Detected in the eye at gestational days 53-54 and at gestational week 10.1 Publication
Gene expression databases
Bgeei | ENSG00000232258 Expressed in 31 organ(s), highest expression level in hypothalamus |
ExpressionAtlasi | B3SHH9 baseline and differential |
Interactioni
Protein-protein interaction databases
IntActi | B3SHH9, 1 interactor |
STRINGi | 9606.ENSP00000454261 |
Family & Domainsi
Sequence similaritiesi
Belongs to the PMP-22/EMP/MP20 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG410IF9Y Eukaryota ENOG4111IMB LUCA |
GeneTreei | ENSGT00390000011615 |
HOGENOMi | HOG000154605 |
HOVERGENi | HBG076521 |
InParanoidi | B3SHH9 |
OMAi | MIFGGMT |
OrthoDBi | 1265742at2759 |
PhylomeDBi | B3SHH9 |
Family and domain databases
InterProi | View protein in InterPro IPR004031 PMP22/EMP/MP20/Claudin IPR039951 TMEM114/TMEM235 |
PANTHERi | PTHR20516 PTHR20516, 1 hit |
Pfami | View protein in Pfam PF13903 Claudin_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
B3SHH9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MRVHLGGLAG AAALTGALSF VLLAAAIGTD FWYIIDTERL ERTGPGAQDL
60 70 80 90 100
LGSINRSQPE PLSSHSGLWR TCRVQSPCTP LMNPFRLENV TVSESSRQLL
110 120 130 140 150
TMHGTFVILL PLSLILMVFG GMTGFLSFLL QAYLLLLLTG ILFLFGAMVT
160 170 180 190 200
LAGISVYIAY SAAAFREALC LLEEKALLDQ VDISFGWSLA LGWISFIAEL
210 220
LTGAAFLAAA RELSLRRRQD QAI
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BM71 | H3BM71_HUMAN | HCG15406 | TMEM114 hCG_15406 | 142 | Annotation score: | ||
A0A096LNY9 | A0A096LNY9_HUMAN | Transmembrane protein 114 | TMEM114 | 177 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 205 | A → P in BF727259 (PubMed:12107413).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058707 | 35 | I → T1 PublicationCorresponds to variant dbSNP:rs1048548807Ensembl. | 1 | |
Natural variantiVAR_058708 | 147 | A → V1 PublicationCorresponds to variant dbSNP:rs141472774Ensembl. | 1 | |
Natural variantiVAR_058709 | 206 | F → L1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | EF424218 Genomic DNA Translation: ABN55916.1 BF727259 mRNA No translation available. BC150511 mRNA No translation available. |
CCDSi | CCDS73825.1 |
RefSeqi | NP_001139808.1, NM_001146336.1 |
UniGenei | Hs.150849 Hs.459847 Hs.517683 |
Genome annotation databases
Ensembli | ENST00000620492; ENSP00000484263; ENSG00000232258 |
GeneIDi | 283953 |
KEGGi | hsa:283953 |
UCSCi | uc032dql.1 human |
Keywords - Coding sequence diversityi
Chromosomal rearrangement, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | EF424218 Genomic DNA Translation: ABN55916.1 BF727259 mRNA No translation available. BC150511 mRNA No translation available. |
CCDSi | CCDS73825.1 |
RefSeqi | NP_001139808.1, NM_001146336.1 |
UniGenei | Hs.150849 Hs.459847 Hs.517683 |
3D structure databases
ProteinModelPortali | B3SHH9 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
IntActi | B3SHH9, 1 interactor |
STRINGi | 9606.ENSP00000454261 |
PTM databases
iPTMneti | B3SHH9 |
PhosphoSitePlusi | B3SHH9 |
Polymorphism and mutation databases
BioMutai | TMEM114 |
Proteomic databases
PaxDbi | B3SHH9 |
PRIDEi | B3SHH9 |
ProteomicsDBi | 3838 |
Protocols and materials databases
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000620492; ENSP00000484263; ENSG00000232258 |
GeneIDi | 283953 |
KEGGi | hsa:283953 |
UCSCi | uc032dql.1 human |
Organism-specific databases
CTDi | 283953 |
DisGeNETi | 283953 |
EuPathDBi | HostDB:ENSG00000232258.6 |
GeneCardsi | TMEM114 |
H-InvDBi | HIX0096578 |
HGNCi | HGNC:33227 TMEM114 |
MIMi | 611579 gene |
neXtProti | NX_B3SHH9 |
OpenTargetsi | ENSG00000232258 |
PharmGKBi | PA162405852 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IF9Y Eukaryota ENOG4111IMB LUCA |
GeneTreei | ENSGT00390000011615 |
HOGENOMi | HOG000154605 |
HOVERGENi | HBG076521 |
InParanoidi | B3SHH9 |
OMAi | MIFGGMT |
OrthoDBi | 1265742at2759 |
PhylomeDBi | B3SHH9 |
Miscellaneous databases
ChiTaRSi | TMEM114 human |
GenomeRNAii | 283953 |
PROi | PR:B3SHH9 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000232258 Expressed in 31 organ(s), highest expression level in hypothalamus |
ExpressionAtlasi | B3SHH9 baseline and differential |
Family and domain databases
InterProi | View protein in InterPro IPR004031 PMP22/EMP/MP20/Claudin IPR039951 TMEM114/TMEM235 |
PANTHERi | PTHR20516 PTHR20516, 1 hit |
Pfami | View protein in Pfam PF13903 Claudin_2, 1 hit |
ProtoNeti | Search... |
Entry informationi
Entry namei | TM114_HUMAN | |
Accessioni | B3SHH9Primary (citable) accession number: B3SHH9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 14, 2008 |
Last sequence update: | October 14, 2008 | |
Last modified: | February 13, 2019 | |
This is version 74 of the entry and version 2 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
Complete proteome, Reference proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations