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Protein

Transmembrane protein 114

Gene

TMEM114

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 114Imported
Gene namesi
Name:TMEM114Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:33227. TMEM114.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2721HelicalSequence analysisAdd
BLAST
Transmembranei106 – 12621HelicalSequence analysisAdd
BLAST
Transmembranei134 – 15421HelicalSequence analysisAdd
BLAST
Transmembranei189 – 20921HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & 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).

Organism-specific databases

PharmGKBiPA162405852.

Polymorphism and mutation databases

BioMutaiTMEM114.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 223223Transmembrane protein 114PRO_0000352759Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi55 – 551N-linked (GlcNAc...)By similarity
Glycosylationi89 – 891N-linked (GlcNAc...)By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiB3SHH9.
PRIDEiB3SHH9.

PTM databases

iPTMnetiB3SHH9.
PhosphoSiteiB3SHH9.

Expressioni

Developmental stagei

Detected in the eye at gestational days 53-54 and at gestational week 10.1 Publication

Gene expression databases

CleanExiHS_TMEM114.
ExpressionAtlasiB3SHH9. baseline and differential.

Organism-specific databases

HPAiHPA045671.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000454261.

Structurei

3D structure databases

ProteinModelPortaliB3SHH9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PMP-22/EMP/MP20 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF9Y. Eukaryota.
ENOG4111IMB. LUCA.
GeneTreeiENSGT00390000011615.
HOGENOMiHOG000154605.
HOVERGENiHBG076521.
InParanoidiB3SHH9.
OMAiPLMNPFW.
OrthoDBiEOG091G0OBW.
PhylomeDBiB3SHH9.

Family and domain databases

InterProiIPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PfamiPF13903. Claudin_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

B3SHH9-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:223
Mass (Da):24,166
Last modified:October 14, 2008 - v2
Checksum:i7D5D62698712B3CD
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti205 – 2051A → P in BF727259 (PubMed:12107413).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351I → T.1 Publication
VAR_058707
Natural varianti147 – 1471A → V.1 Publication
Corresponds to variant rs141472774 [ dbSNP | Ensembl ].
VAR_058708
Natural varianti206 – 2061F → L.1 Publication
VAR_058709

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.
CCDSiCCDS73825.1.
RefSeqiNP_001139808.1. NM_001146336.1.
UniGeneiHs.150849.
Hs.459847.
Hs.517683.

Genome annotation databases

EnsembliENST00000620492; ENSP00000484263; ENSG00000232258.
GeneIDi283953.
KEGGihsa:283953.
UCSCiuc032dql.1. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

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.
CCDSiCCDS73825.1.
RefSeqiNP_001139808.1. NM_001146336.1.
UniGeneiHs.150849.
Hs.459847.
Hs.517683.

3D structure databases

ProteinModelPortaliB3SHH9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000454261.

PTM databases

iPTMnetiB3SHH9.
PhosphoSiteiB3SHH9.

Polymorphism and mutation databases

BioMutaiTMEM114.

Proteomic databases

PaxDbiB3SHH9.
PRIDEiB3SHH9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000620492; ENSP00000484263; ENSG00000232258.
GeneIDi283953.
KEGGihsa:283953.
UCSCiuc032dql.1. human.

Organism-specific databases

CTDi283953.
GeneCardsiTMEM114.
H-InvDBHIX0096578.
HGNCiHGNC:33227. TMEM114.
HPAiHPA045671.
MIMi611579. gene.
neXtProtiNX_B3SHH9.
PharmGKBiPA162405852.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF9Y. Eukaryota.
ENOG4111IMB. LUCA.
GeneTreeiENSGT00390000011615.
HOGENOMiHOG000154605.
HOVERGENiHBG076521.
InParanoidiB3SHH9.
OMAiPLMNPFW.
OrthoDBiEOG091G0OBW.
PhylomeDBiB3SHH9.

Miscellaneous databases

GenomeRNAii283953.
PROiB3SHH9.
SOURCEiSearch...

Gene expression databases

CleanExiHS_TMEM114.
ExpressionAtlasiB3SHH9. baseline and differential.

Family and domain databases

InterProiIPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PfamiPF13903. Claudin_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTM114_HUMAN
AccessioniPrimary (citable) accession number: B3SHH9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 14, 2008
Last sequence update: October 14, 2008
Last modified: September 7, 2016
This is version 59 of the entry and version 2 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 16
    Human chromosome 16: 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.