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Protein

Transmembrane protein 99

Gene

TMEM99

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 99
Gene namesi
Name:TMEM99
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000167920.8
HGNCiHGNC:28305 TMEM99
neXtProtiNX_Q8N816

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei94 – 114HelicalSequence analysisAdd BLAST21
Transmembranei197 – 217HelicalSequence analysisAdd BLAST21
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000167920
PharmGKBiPA142670748

Polymorphism and mutation databases

BioMutaiTMEM99
DMDMi212276470

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000025455120 – 258Transmembrane protein 99Add BLAST239

Proteomic databases

PaxDbiQ8N816
PeptideAtlasiQ8N816
PRIDEiQ8N816
TopDownProteomicsiQ8N816-2 [Q8N816-2]

Expressioni

Gene expression databases

BgeeiENSG00000167920
CleanExiHS_TMEM99
ExpressionAtlasiQ8N816 baseline and differential
GenevisibleiQ8N816 HS

Organism-specific databases

HPAiHPA076359

Interactioni

Protein-protein interaction databases

IntActiQ8N816, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ8N816
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410KC5K Eukaryota
ENOG411131T LUCA
GeneTreeiENSGT00390000016445
HOGENOMiHOG000208459
InParanoidiQ8N816
OMAiDFCLILG
OrthoDBiEOG091G0KEM
PhylomeDBiQ8N816

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N816-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVGILPLCCS GCVPSLCCSS YVPSVAPTAA HSVRVPHSAG HCGQRVLACS
60 70 80 90 100
LPQVFLKPWI FVEHFSSWLS LELFSFLRYL GTLLCACGHR LREGLLLPCL
110 120 130 140 150
LGVGSWLLFN NWTGGSWFSL HLQQVSLSQG SHVAAFLPEA IGPGVPVPVS
160 170 180 190 200
GESTSAQQSH AGWQLSAEAD ACPSVLYSEV LEWNKNINTY TSFHDFCLIL
210 220 230 240 250
GIFLFCFVLA VIGLPYIKPG LSLSVALLWQ SLILLSSLVQ QDSQVHTWGC

LFSTFTST
Length:258
Mass (Da):27,975
Last modified:November 4, 2008 - v2
Checksum:i857594EF02E0FA38
GO
Isoform 2 (identifier: Q8N816-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     190-258: Missing.

Show »
Length:189
Mass (Da):20,291
Checksum:i3C0C235FE3864179
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0288354I → M. Corresponds to variant dbSNP:rs17474506Ensembl.1
Natural variantiVAR_02883679Y → H. Corresponds to variant dbSNP:rs10558Ensembl.1
Natural variantiVAR_02883795L → R1 PublicationCorresponds to variant dbSNP:rs1044806Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_035635190 – 258Missing in isoform 2. 2 PublicationsAdd BLAST69

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097454 mRNA Translation: BAC05059.1
AK298616 mRNA Translation: BAG60796.1
CH471152 Genomic DNA Translation: EAW60682.1
BC015365 mRNA Translation: AAH15365.1
CCDSiCCDS42319.1 [Q8N816-1]
RefSeqiNP_001182315.1, NM_001195386.1 [Q8N816-1]
NP_001182316.1, NM_001195387.1 [Q8N816-1]
NP_660317.2, NM_145274.3 [Q8N816-1]
XP_005257146.1, XM_005257089.4 [Q8N816-1]
XP_016879742.1, XM_017024253.1 [Q8N816-1]
UniGeneiHs.353163
Hs.744059

Genome annotation databases

EnsembliENST00000301665; ENSP00000301665; ENSG00000167920 [Q8N816-1]
ENST00000436612; ENSP00000390036; ENSG00000167920 [Q8N816-2]
ENST00000622451; ENSP00000482364; ENSG00000167920 [Q8N816-1]
GeneIDi147184
KEGGihsa:147184
UCSCiuc002hvj.2 human [Q8N816-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTMM99_HUMAN
AccessioniPrimary (citable) accession number: Q8N816
Secondary accession number(s): B4DQ34, Q96BP9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: November 4, 2008
Last modified: September 27, 2017
This is version 94 of the entry and version 2 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 17
    Human chromosome 17: 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

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