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Protein

Transmembrane protein 245

Gene

TMEM245

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 245
Alternative name(s):
Protein CG-2
Gene namesi
Name:TMEM245
Synonyms:C9orf5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000106771.12
HGNCiHGNC:1363 TMEM245
neXtProtiNX_Q9H330

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei60 – 80HelicalSequence analysisAdd BLAST21
Transmembranei119 – 139HelicalSequence analysisAdd BLAST21
Transmembranei148 – 168HelicalSequence analysisAdd BLAST21
Transmembranei185 – 205HelicalSequence analysisAdd BLAST21
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Transmembranei241 – 261HelicalSequence analysisAdd BLAST21
Transmembranei354 – 374HelicalSequence analysisAdd BLAST21
Transmembranei377 – 397HelicalSequence analysisAdd BLAST21
Transmembranei460 – 480HelicalSequence analysisAdd BLAST21
Transmembranei626 – 646HelicalSequence analysisAdd BLAST21
Transmembranei650 – 670HelicalSequence analysisAdd BLAST21
Transmembranei732 – 752HelicalSequence analysisAdd BLAST21
Transmembranei776 – 796HelicalSequence analysisAdd BLAST21
Transmembranei815 – 835HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi23731
OpenTargetsiENSG00000106771
PharmGKBiPA25980

Polymorphism and mutation databases

BioMutaiTMEM245
DMDMi71152403

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000896702 – 879Transmembrane protein 245Add BLAST878

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineBy similarity1
Modified residuei12PhosphoserineBy similarity1
Modified residuei16PhosphoserineBy similarity1
Modified residuei36PhosphothreonineCombined sources1
Glycosylationi210N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei324PhosphoserineCombined sources1
Modified residuei327PhosphoserineCombined sources1
Modified residuei330PhosphoserineBy similarity1
Modified residuei332PhosphoserineCombined sources1
Modified residuei334PhosphothreonineCombined sources1
Glycosylationi500N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi551N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi575N-linked (GlcNAc...) asparagineSequence analysis1
Isoform 3 (identifier: Q9H330-3)
Modified residuei429PhosphoserineCombined sources1
Isoform 2 (identifier: Q9H330-2)
Modified residuei877PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9H330
MaxQBiQ9H330
PaxDbiQ9H330
PeptideAtlasiQ9H330
PRIDEiQ9H330

PTM databases

iPTMnetiQ9H330
PhosphoSitePlusiQ9H330
SwissPalmiQ9H330

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000106771
CleanExiHS_C9orf5
ExpressionAtlasiQ9H330 baseline and differential
GenevisibleiQ9H330 HS

Organism-specific databases

HPAiHPA023892

Interactioni

Protein-protein interaction databases

BioGridi117237, 15 interactors
IntActiQ9H330, 4 interactors
MINTiQ9H330

Structurei

3D structure databases

ProteinModelPortaliQ9H330
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2365 Eukaryota
ENOG410XRXR LUCA
GeneTreeiENSGT00390000001667
HOGENOMiHOG000049264
HOVERGENiHBG080525
InParanoidiQ9H330
OMAiCFADYGV
OrthoDBiEOG091G0BL2
PhylomeDBiQ9H330
TreeFamiTF315224

Family and domain databases

InterProiView protein in InterPro
IPR002549 AI-2E-like
PANTHERiPTHR21716 PTHR21716, 1 hit
PfamiView protein in Pfam
PF01594 AI-2E_transport, 1 hit

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2 (identifier: Q9H330-2) [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
MADGGGPKDA PSLRSSPGPA PRVPRAVGPS GGGGETPRTA ALALRFDKPI
60 70 80 90 100
KQAFYNTGAV LFVCLCCGAA VLVYFILEAF LRPLLWAVLC GTFLHPFKSS
110 120 130 140 150
LTRLGRHWLQ RLHRAHTPIV LAALLLPLCF VDYGVEALGE QALRRRRLLL
160 170 180 190 200
LLGAGGPLLY GLYCLGSYLG VQVLLVHAAT LICRGLDYFS SLWIWTLVVG
210 220 230 240 250
YVLTVSFKWN ASTERYLRAV SIPVWIILLF HLASLAGSWR IPVFLVIVFL
260 270 280 290 300
MSVGTLYEKQ NGKESSGAEL PGQVISMAAS TLANLAISIT GYESSSEDQP
310 320 330 340 350
STQPAEAVDR GESAPTLSTS PSPSSPSPTS PSPTLGRRRP EIGTFLRKKK
360 370 380 390 400
TSDIYFVSLV WAIVVMQIWL NLWIVQLLPV PIAVWILKKL VIHFGVVDFL
410 420 430 440 450
EKRYHVWWGI IESFLKERQG ALAPWPIVGL GKFLLKVDSK LWHWLNKKMI
460 470 480 490 500
IWLEKMLDKI ISIFIIFLLV IGTLLLALLL TAKVHQESVH MIEVTSNLIN
510 520 530 540 550
ETLANHPEWA NWLPEAQVVQ RALNSAANNV YQYGREWITH KLHKILGDKV
560 570 580 590 600
NNTAVIEKQV LELWDRLYHS WFVKNVTHSG RHKGQKLHVS RQNSWLGDIL
610 620 630 640 650
DWQDIVSFVH ENIETFLSIL ESLWIVMSRN VSLLFTTVTT LLTILFYSGT
660 670 680 690 700
ALLNFVLSLI IFLTTLFYLL SSSDEYYKPV KWVISLTPLS QPGPSSNIIG
710 720 730 740 750
QSVEEAIRGV FDASLKMAGF YGLYTWLTHT MFGINIVFIP SALAAILGAV
760 770 780 790 800
PFLGTYWAAV PAVLDLWLTQ GLGCKAILLL IFHLLPTYFV DTAIYSDISG
810 820 830 840 850
GGHPYLTGLA VAGGAYYLGL EGAIIGPILL CILVVASNIY SAMLVSPTNS
860 870
VPTPNQTPWP AQPQRTFRDI SEDLKSSVG
Length:879
Mass (Da):97,357
Last modified:March 28, 2018 - v3
Checksum:iAD26DE952B1D94AE
GO
Isoform 3 (identifier: Q9H330-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-448: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:431
Mass (Da):48,042
Checksum:i341EA2D18CE658DE
GO
Isoform 4 (identifier: Q9H330-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     440-447: Missing.
     511-511: N → K
     512-879: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:503
Mass (Da):55,433
Checksum:i810DA48BC071FE0E
GO

Sequence cautioni

The sequence AAG43365 differs from that shown. Reason: Frameshift at positions 872 and 878.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti785L → V in BAG61779 (PubMed:14702039).Curated1
Sequence conflicti855N → I in BAD18785 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0596049D → E1 PublicationCorresponds to variant dbSNP:rs12001627Ensembl.1
Natural variantiVAR_056815314A → T. Corresponds to variant dbSNP:rs2271877Ensembl.1
Natural variantiVAR_056816787T → A. Corresponds to variant dbSNP:rs3750455Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0146801 – 448Missing in isoform 3. 1 PublicationAdd BLAST448
Alternative sequenceiVSP_059402440 – 447Missing in isoform 4. 1 Publication8
Alternative sequenceiVSP_059403511N → K in isoform 4. 1 Publication1
Alternative sequenceiVSP_059404512 – 879Missing in isoform 4. 1 PublicationAdd BLAST368

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF153415 mRNA Translation: AAG43365.1 Frameshift.
AK299952 mRNA Translation: BAG61779.1
AK172815 mRNA Translation: BAD18785.1
AL669894 Genomic DNA No translation available.
AL358815 Genomic DNA No translation available.
AL354797 Genomic DNA No translation available.
BC014248 mRNA Translation: AAH14248.2
AL833960 mRNA Translation: CAD38810.1
CCDSiCCDS43858.1 [Q9H330-2]
RefSeqiNP_114401.2, NM_032012.3 [Q9H330-2]
UniGeneiHs.308074
Hs.621479

Genome annotation databases

EnsembliENST00000374586; ENSP00000363714; ENSG00000106771 [Q9H330-2]
GeneIDi23731
KEGGihsa:23731
UCSCiuc004bdt.5 human [Q9H330-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTM245_HUMAN
AccessioniPrimary (citable) accession number: Q9H330
Secondary accession number(s): B4DSW7
, Q5JTQ5, Q5SS43, Q6ZME3, Q8NDJ5, Q96CG6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: March 28, 2018
Last modified: April 25, 2018
This is version 116 of the entry and version 3 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 9
    Human chromosome 9: 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. SIMILARITY comments
    Index of protein domains and families

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