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Protein

Transmembrane protein 246

Gene

TMEM246

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 246
Gene namesi
Name:TMEM246
Synonyms:C9orf125
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000165152.8
HGNCiHGNC:28180 TMEM246
neXtProtiNX_Q9BRR3

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Transmembranei260 – 280HelicalSequence analysisAdd BLAST21
Transmembranei288 – 308HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000165152
PharmGKBiPA134867545

Polymorphism and mutation databases

BioMutaiTMEM246
DMDMi71152417

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000897311 – 403Transmembrane protein 246Add BLAST403

Proteomic databases

EPDiQ9BRR3
MaxQBiQ9BRR3
PaxDbiQ9BRR3
PeptideAtlasiQ9BRR3
PRIDEiQ9BRR3
ProteomicsDBi78811

PTM databases

iPTMnetiQ9BRR3
PhosphoSitePlusiQ9BRR3

Expressioni

Gene expression databases

BgeeiENSG00000165152 Expressed in 216 organ(s), highest expression level in cerebellar vermis
CleanExiHS_C9orf125
ExpressionAtlasiQ9BRR3 baseline and differential
GenevisibleiQ9BRR3 HS

Organism-specific databases

HPAiHPA011318
HPA054041

Interactioni

Protein-protein interaction databases

BioGridi124028, 15 interactors
IntActiQ9BRR3, 2 interactors
STRINGi9606.ENSP00000363980

Structurei

3D structure databases

ProteinModelPortaliQ9BRR3
SMRiQ9BRR3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM246 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF9Z Eukaryota
ENOG4111M4Y LUCA
GeneTreeiENSGT00500000045018
HOGENOMiHOG000231607
HOVERGENiHBG080346
InParanoidiQ9BRR3
OMAiECCTPAM
OrthoDBiEOG091G0ER9
PhylomeDBiQ9BRR3
TreeFamiTF313998

Family and domain databases

InterProiView protein in InterPro
IPR029675 TMEM246
PANTHERiPTHR31410 PTHR31410, 1 hit

Sequencei

Sequence statusi: Complete.

Q9BRR3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSTSTSPAAM LLRRLRRLSW GSTAVQLFIL TVVTFGLLAP LACHRLLHSY
60 70 80 90 100
FYLRHWHLNQ MSQEFLQQSL KEGEAALHYF EELPSANGSV PIVWQATPRP
110 120 130 140 150
WLVITIITVD RQPGFHYVLQ VVSQFHRLLQ QCGPQCEGHQ LFLCNVERSV
160 170 180 190 200
SHFDAKLLSK YVPVANRYEG TEDDYGDDPS TNSFEKEKQD YVYCLESSLQ
210 220 230 240 250
TYNPDYVLMV EDDAVPEEQI FPVLEHLLRA RFSEPHLRDA LYLKLYHPER
260 270 280 290 300
LQHYINPEPM RILEWVGVGM LLGPLLTWIY MRFASRPGFS WPVMLFFSLY
310 320 330 340 350
SMGLVELVGR HYFLELRRLS PSLYSVVPAS QCCTPAMLFP APAARRTLTY
360 370 380 390 400
LSQVYCHKGF GKDMALYSLL RAKGERAYVV EPNLVKHIGL FSSLRYNFHP

SLL
Length:403
Mass (Da):46,588
Last modified:June 1, 2001 - v1
Checksum:i82987435CDE27216
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL353621 Genomic DNA No translation available.
BC006115 mRNA Translation: AAH06115.1
BC033550 mRNA Translation: AAH33550.1
CCDSiCCDS6757.1
RefSeqiNP_001290036.1, NM_001303107.1
NP_001290037.1, NM_001303108.1
NP_115718.1, NM_032342.2
XP_016870695.1, XM_017015206.1
UniGeneiHs.388742
Hs.655738

Genome annotation databases

EnsembliENST00000374847; ENSP00000363980; ENSG00000165152
ENST00000374848; ENSP00000363981; ENSG00000165152
ENST00000374851; ENSP00000363984; ENSG00000165152
GeneIDi84302
KEGGihsa:84302
UCSCiuc004bbm.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL353621 Genomic DNA No translation available.
BC006115 mRNA Translation: AAH06115.1
BC033550 mRNA Translation: AAH33550.1
CCDSiCCDS6757.1
RefSeqiNP_001290036.1, NM_001303107.1
NP_001290037.1, NM_001303108.1
NP_115718.1, NM_032342.2
XP_016870695.1, XM_017015206.1
UniGeneiHs.388742
Hs.655738

3D structure databases

ProteinModelPortaliQ9BRR3
SMRiQ9BRR3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124028, 15 interactors
IntActiQ9BRR3, 2 interactors
STRINGi9606.ENSP00000363980

PTM databases

iPTMnetiQ9BRR3
PhosphoSitePlusiQ9BRR3

Polymorphism and mutation databases

BioMutaiTMEM246
DMDMi71152417

Proteomic databases

EPDiQ9BRR3
MaxQBiQ9BRR3
PaxDbiQ9BRR3
PeptideAtlasiQ9BRR3
PRIDEiQ9BRR3
ProteomicsDBi78811

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374847; ENSP00000363980; ENSG00000165152
ENST00000374848; ENSP00000363981; ENSG00000165152
ENST00000374851; ENSP00000363984; ENSG00000165152
GeneIDi84302
KEGGihsa:84302
UCSCiuc004bbm.4 human

Organism-specific databases

CTDi84302
EuPathDBiHostDB:ENSG00000165152.8
GeneCardsiTMEM246
HGNCiHGNC:28180 TMEM246
HPAiHPA011318
HPA054041
neXtProtiNX_Q9BRR3
OpenTargetsiENSG00000165152
PharmGKBiPA134867545
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF9Z Eukaryota
ENOG4111M4Y LUCA
GeneTreeiENSGT00500000045018
HOGENOMiHOG000231607
HOVERGENiHBG080346
InParanoidiQ9BRR3
OMAiECCTPAM
OrthoDBiEOG091G0ER9
PhylomeDBiQ9BRR3
TreeFamiTF313998

Miscellaneous databases

ChiTaRSiTMEM246 human
GenomeRNAii84302
PROiPR:Q9BRR3

Gene expression databases

BgeeiENSG00000165152 Expressed in 216 organ(s), highest expression level in cerebellar vermis
CleanExiHS_C9orf125
ExpressionAtlasiQ9BRR3 baseline and differential
GenevisibleiQ9BRR3 HS

Family and domain databases

InterProiView protein in InterPro
IPR029675 TMEM246
PANTHERiPTHR31410 PTHR31410, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTM246_HUMAN
AccessioniPrimary (citable) accession number: Q9BRR3
Secondary accession number(s): Q49AQ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 112 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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