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Protein

Transmembrane protein 246

Gene

TMEM246

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-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

HGNCiHGNC:28180. TMEM246.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei23 – 4321HelicalSequence analysisAdd
BLAST
Transmembranei260 – 28021HelicalSequence analysisAdd
BLAST
Transmembranei288 – 30821HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134867545.

Polymorphism and mutation databases

BioMutaiTMEM246.
DMDMi71152417.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 403403Transmembrane protein 246PRO_0000089731Add
BLAST

Proteomic databases

EPDiQ9BRR3.
MaxQBiQ9BRR3.
PaxDbiQ9BRR3.
PRIDEiQ9BRR3.

PTM databases

iPTMnetiQ9BRR3.
PhosphoSiteiQ9BRR3.

Expressioni

Gene expression databases

BgeeiQ9BRR3.
CleanExiHS_C9orf125.
ExpressionAtlasiQ9BRR3. baseline and differential.
GenevisibleiQ9BRR3. HS.

Organism-specific databases

HPAiHPA011318.
HPA054041.

Interactioni

Protein-protein interaction databases

BioGridi124028. 14 interactions.
IntActiQ9BRR3. 2 interactions.
STRINGi9606.ENSP00000363980.

Structurei

3D structure databases

ProteinModelPortaliQ9BRR3.
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.
OrthoDBiEOG7X0VHC.
PhylomeDBiQ9BRR3.
TreeFamiTF313998.

Family and domain databases

InterProiIPR029675. TMEM246.
[Graphical view]
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. Translation: CAI14616.1.
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.
UniGeneiHs.388742.
Hs.655738.

Genome annotation databases

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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL353621 Genomic DNA. Translation: CAI14616.1.
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.
UniGeneiHs.388742.
Hs.655738.

3D structure databases

ProteinModelPortaliQ9BRR3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124028. 14 interactions.
IntActiQ9BRR3. 2 interactions.
STRINGi9606.ENSP00000363980.

PTM databases

iPTMnetiQ9BRR3.
PhosphoSiteiQ9BRR3.

Polymorphism and mutation databases

BioMutaiTMEM246.
DMDMi71152417.

Proteomic databases

EPDiQ9BRR3.
MaxQBiQ9BRR3.
PaxDbiQ9BRR3.
PRIDEiQ9BRR3.

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.
GeneCardsiTMEM246.
HGNCiHGNC:28180. TMEM246.
HPAiHPA011318.
HPA054041.
neXtProtiNX_Q9BRR3.
PharmGKBiPA134867545.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF9Z. Eukaryota.
ENOG4111M4Y. LUCA.
GeneTreeiENSGT00500000045018.
HOGENOMiHOG000231607.
HOVERGENiHBG080346.
InParanoidiQ9BRR3.
OMAiECCTPAM.
OrthoDBiEOG7X0VHC.
PhylomeDBiQ9BRR3.
TreeFamiTF313998.

Miscellaneous databases

ChiTaRSiTMEM246. human.
GenomeRNAii84302.
NextBioi73972.
PROiQ9BRR3.

Gene expression databases

BgeeiQ9BRR3.
CleanExiHS_C9orf125.
ExpressionAtlasiQ9BRR3. baseline and differential.
GenevisibleiQ9BRR3. HS.

Family and domain databases

InterProiIPR029675. TMEM246.
[Graphical view]
PANTHERiPTHR31410. PTHR31410. 1 hit.
ProtoNetiSearch...

Publicationsi

  1. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Testis.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTM246_HUMAN
AccessioniPrimary (citable) accession number: Q9BRR3
Secondary accession number(s): Q49AQ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: June 1, 2001
Last modified: April 13, 2016
This is version 96 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. 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.