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Protein

Transmembrane protein 248

Gene

TMEM248

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 248
Gene namesi
Name:TMEM248
Synonyms:C7orf42
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106609.16
HGNCiHGNC:25476 TMEM248
neXtProtiNX_Q9NWD8

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei21 – 41HelicalSequence analysisAdd BLAST21
Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Transmembranei236 – 258HelicalSequence analysisAdd BLAST23
Transmembranei270 – 290HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000106609
PharmGKBiPA147358581

Polymorphism and mutation databases

BioMutaiTMEM248
DMDMi74734652

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002951261 – 314Transmembrane protein 248Add BLAST314

Proteomic databases

EPDiQ9NWD8
MaxQBiQ9NWD8
PaxDbiQ9NWD8
PeptideAtlasiQ9NWD8
PRIDEiQ9NWD8
ProteomicsDBi82927
82928 [Q9NWD8-2]

PTM databases

iPTMnetiQ9NWD8
PhosphoSitePlusiQ9NWD8

Expressioni

Gene expression databases

BgeeiENSG00000106609 Expressed in 223 organ(s), highest expression level in prostate gland
CleanExiHS_C7orf42
ExpressionAtlasiQ9NWD8 baseline and differential
GenevisibleiQ9NWD8 HS

Organism-specific databases

HPAiHPA016495

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SYNE4Q8N2053EBI-10314986,EBI-7131783

Protein-protein interaction databases

BioGridi120386, 20 interactors
IntActiQ9NWD8, 40 interactors
STRINGi9606.ENSP00000340668

Structurei

3D structure databases

ProteinModelPortaliQ9NWD8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM248 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IKT0 Eukaryota
ENOG4110155 LUCA
GeneTreeiENSGT00390000005624
HOGENOMiHOG000111593
HOVERGENiHBG055060
InParanoidiQ9NWD8
OMAiCMTLTAA
OrthoDBiEOG091G0T4G
PhylomeDBiQ9NWD8
TreeFamiTF331542

Family and domain databases

InterProiView protein in InterPro
IPR039493 TMEM248/TMEM219
IPR039587 TMEM248/TMEM219_dom
PANTHERiPTHR16002 PTHR16002, 1 hit
PfamiView protein in Pfam
PF14940 TMEM219, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NWD8-1) [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
MFSINPLENL KVYISSRPPL VVFMISVSAM AIAFLTLGYF FKIKEIKSPE
60 70 80 90 100
MAEDWNTFLL RFNDLDLCVS ENETLKHLTN DTTTPESTMT SGQARASTQS
110 120 130 140 150
PQALEDSGPV NISVSITLTL DPLKPFGGYS RNVTHLYSTI LGHQIGLSGR
160 170 180 190 200
EAHEEINITF TLPTAWSSDD CALHGHCEQV VFTACMTLTA SPGVFPVTVQ
210 220 230 240 250
PPHCVPDTYS NATLWYKIFT TARDANTKYA QDYNPFWCYK GAIGKVYHAL
260 270 280 290 300
NPKLTVIVPD DDRSLINLHL MHTSYFLFVM VITMFCYAVI KGRPSKLRQS
310
NPEFCPEKVA LAEA
Length:314
Mass (Da):35,052
Last modified:October 1, 2000 - v1
Checksum:iB701BDC9B269C1BB
GO
Isoform 2 (identifier: Q9NWD8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     200-203: QPPH → MTVH
     204-314: Missing.

Note: No experimental confirmation available.
Show »
Length:203
Mass (Da):22,318
Checksum:iA69DC524847D1579
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JKP5C9JKP5_HUMAN
Transmembrane protein 248
TMEM248
94Annotation score:
C9J3C8C9J3C8_HUMAN
Transmembrane protein 248
TMEM248
72Annotation score:
U3KQ21U3KQ21_HUMAN
Transmembrane protein 248
TMEM248
114Annotation score:
F8WE75F8WE75_HUMAN
Transmembrane protein 248
TMEM248
139Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti195F → L in BAD96494 (Ref. 2) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_026736200 – 203QPPH → MTVH in isoform 2. 1 Publication4
Alternative sequenceiVSP_026737204 – 314Missing in isoform 2. 1 PublicationAdd BLAST111

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000961 mRNA Translation: BAA91444.1
AK222774 mRNA Translation: BAD96494.1
CH236961 Genomic DNA Translation: EAL23731.1
BC008675 mRNA Translation: AAH08675.1
BC010519 mRNA Translation: AAH10519.1
BC012562 mRNA Translation: AAH12562.1
BC041764 mRNA Translation: AAH41764.1
CCDSiCCDS5536.1 [Q9NWD8-1]
RefSeqiNP_060464.1, NM_017994.4 [Q9NWD8-1]
XP_005250539.1, XM_005250482.3 [Q9NWD8-1]
UniGeneiHs.488478

Genome annotation databases

EnsembliENST00000341567; ENSP00000340668; ENSG00000106609 [Q9NWD8-1]
ENST00000433271; ENSP00000405558; ENSG00000106609 [Q9NWD8-2]
GeneIDi55069
KEGGihsa:55069
UCSCiuc003tvk.4 human [Q9NWD8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000961 mRNA Translation: BAA91444.1
AK222774 mRNA Translation: BAD96494.1
CH236961 Genomic DNA Translation: EAL23731.1
BC008675 mRNA Translation: AAH08675.1
BC010519 mRNA Translation: AAH10519.1
BC012562 mRNA Translation: AAH12562.1
BC041764 mRNA Translation: AAH41764.1
CCDSiCCDS5536.1 [Q9NWD8-1]
RefSeqiNP_060464.1, NM_017994.4 [Q9NWD8-1]
XP_005250539.1, XM_005250482.3 [Q9NWD8-1]
UniGeneiHs.488478

3D structure databases

ProteinModelPortaliQ9NWD8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120386, 20 interactors
IntActiQ9NWD8, 40 interactors
STRINGi9606.ENSP00000340668

PTM databases

iPTMnetiQ9NWD8
PhosphoSitePlusiQ9NWD8

Polymorphism and mutation databases

BioMutaiTMEM248
DMDMi74734652

Proteomic databases

EPDiQ9NWD8
MaxQBiQ9NWD8
PaxDbiQ9NWD8
PeptideAtlasiQ9NWD8
PRIDEiQ9NWD8
ProteomicsDBi82927
82928 [Q9NWD8-2]

Protocols and materials databases

DNASUi55069
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341567; ENSP00000340668; ENSG00000106609 [Q9NWD8-1]
ENST00000433271; ENSP00000405558; ENSG00000106609 [Q9NWD8-2]
GeneIDi55069
KEGGihsa:55069
UCSCiuc003tvk.4 human [Q9NWD8-1]

Organism-specific databases

CTDi55069
EuPathDBiHostDB:ENSG00000106609.16
GeneCardsiTMEM248
HGNCiHGNC:25476 TMEM248
HPAiHPA016495
neXtProtiNX_Q9NWD8
OpenTargetsiENSG00000106609
PharmGKBiPA147358581
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKT0 Eukaryota
ENOG4110155 LUCA
GeneTreeiENSGT00390000005624
HOGENOMiHOG000111593
HOVERGENiHBG055060
InParanoidiQ9NWD8
OMAiCMTLTAA
OrthoDBiEOG091G0T4G
PhylomeDBiQ9NWD8
TreeFamiTF331542

Miscellaneous databases

ChiTaRSiTMEM248 human
GenomeRNAii55069
PROiPR:Q9NWD8

Gene expression databases

BgeeiENSG00000106609 Expressed in 223 organ(s), highest expression level in prostate gland
CleanExiHS_C7orf42
ExpressionAtlasiQ9NWD8 baseline and differential
GenevisibleiQ9NWD8 HS

Family and domain databases

InterProiView protein in InterPro
IPR039493 TMEM248/TMEM219
IPR039587 TMEM248/TMEM219_dom
PANTHERiPTHR16002 PTHR16002, 1 hit
PfamiView protein in Pfam
PF14940 TMEM219, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTM248_HUMAN
AccessioniPrimary (citable) accession number: Q9NWD8
Secondary accession number(s): Q53H07, Q96FR2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 124 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. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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