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Protein

Transmembrane protein 147

Gene

TMEM147

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

  • protein destabilization Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 147
Alternative name(s):
Protein NIFIE 14
Gene namesi
Name:TMEM147
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:30414. TMEM147.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1 – 2121HelicalSequence analysisAdd
BLAST
Transmembranei38 – 5821HelicalSequence analysisAdd
BLAST
Transmembranei99 – 11921HelicalSequence analysisAdd
BLAST
Transmembranei137 – 15721HelicalSequence analysisAdd
BLAST
Transmembranei167 – 18721HelicalSequence analysisAdd
BLAST
Transmembranei202 – 22221HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA144596255.

Polymorphism and mutation databases

BioMutaiTMEM147.
DMDMi74733336.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 224224Transmembrane protein 147PRO_0000271701Add
BLAST

Proteomic databases

EPDiQ9BVK8.
MaxQBiQ9BVK8.
PaxDbiQ9BVK8.
PeptideAtlasiQ9BVK8.
PRIDEiQ9BVK8.

PTM databases

iPTMnetiQ9BVK8.
PhosphoSiteiQ9BVK8.

Expressioni

Gene expression databases

BgeeiQ9BVK8.
CleanExiHS_TMEM147.
ExpressionAtlasiQ9BVK8. baseline and differential.
GenevisibleiQ9BVK8. HS.

Interactioni

Subunit structurei

Forms a complex with NCLN and NOMO2, resulting in a stabilization of the 3 proteins, which are otherwise quickly degraded by the proteasome. Due to the strong similarity between NOMO1, NOMO2 and NOMO3, probably also interacts with NOMO1 and NOMO3.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CREB3L1Q96BA83EBI-348587,EBI-6942903
LDLRAD1Q5T7003EBI-348587,EBI-10173166
SYNE4Q8N2053EBI-348587,EBI-7131783

Protein-protein interaction databases

BioGridi115698. 9 interactions.
IntActiQ9BVK8. 5 interactions.
MINTiMINT-1036854.
STRINGi9606.ENSP00000222284.

Structurei

3D structure databases

ProteinModelPortaliQ9BVK8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3236. Eukaryota.
ENOG41101UF. LUCA.
GeneTreeiENSGT00390000013276.
HOGENOMiHOG000005667.
HOVERGENiHBG094059.
InParanoidiQ9BVK8.
OMAiFVGEFMK.
OrthoDBiEOG7KDFC1.
PhylomeDBiQ9BVK8.
TreeFamiTF314086.

Family and domain databases

InterProiIPR019164. DUF2053_membrane.
[Graphical view]
PANTHERiPTHR12869. PTHR12869. 1 hit.
PfamiPF09767. DUF2053. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9BVK8-1) [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
MTLFHFGNCF ALAYFPYFIT YKCSGLSEYN AFWKCVQAGV TYLFVQLCKM
60 70 80 90 100
LFLATFFPTW EGGIYDFIGE FMKASVDVAD LIGLNLVMSR NAGKGEYKIM
110 120 130 140 150
VAALGWATAE LIMSRCIPLW VGARGIEFDW KYIQMSIDSN ISLVHYIVAS
160 170 180 190 200
AQVWMITRYD LYHTFRPAVL LLMFLSVYKA FVMETFVHLC SLGSWAALLA
210 220
RAVVTGLLAL STLALYVAVV NVHS
Length:224
Mass (Da):25,261
Last modified:June 1, 2001 - v1
Checksum:i90122F32C34F16AE
GO
Isoform 2 (identifier: Q9BVK8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.

Note: No experimental confirmation available.
Show »
Length:175
Mass (Da):19,543
Checksum:i4505CC6AF16C6518
GO

Sequence cautioni

The sequence BG697070 differs from that shown. Reason: Frameshift at position 213. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti24 – 252SG → TD in CAA77013 (Ref. 1) Curated
Sequence conflicti144 – 1452VH → GP in CAA77013 (Ref. 1) Curated
Sequence conflicti176 – 1761S → R in CAA77013 (Ref. 1) Curated
Sequence conflicti197 – 2059ALLARAVVT → VLMAGVVVK in CAA77013 (Ref. 1) Curated
Sequence conflicti209 – 2157ALSTLAL → VIRNLAM in CAA77013 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321Y → H.
Corresponds to variant rs1269215 [ dbSNP | Ensembl ].
VAR_051429

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4949Missing in isoform 2. 1 PublicationVSP_047210Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y18007 mRNA. Translation: CAA77013.1.
AC002389 Genomic DNA. No translation available.
BC001118 mRNA. Translation: AAH01118.1.
BG697070 mRNA. No translation available.
CCDSiCCDS12466.1. [Q9BVK8-1]
CCDS56091.1. [Q9BVK8-2]
RefSeqiNP_001229526.1. NM_001242597.1. [Q9BVK8-2]
NP_116024.1. NM_032635.3. [Q9BVK8-1]
UniGeneiHs.9234.

Genome annotation databases

EnsembliENST00000222284; ENSP00000222284; ENSG00000105677. [Q9BVK8-1]
ENST00000392204; ENSP00000376040; ENSG00000105677. [Q9BVK8-2]
GeneIDi10430.
KEGGihsa:10430.
UCSCiuc002oai.3. human. [Q9BVK8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y18007 mRNA. Translation: CAA77013.1.
AC002389 Genomic DNA. No translation available.
BC001118 mRNA. Translation: AAH01118.1.
BG697070 mRNA. No translation available.
CCDSiCCDS12466.1. [Q9BVK8-1]
CCDS56091.1. [Q9BVK8-2]
RefSeqiNP_001229526.1. NM_001242597.1. [Q9BVK8-2]
NP_116024.1. NM_032635.3. [Q9BVK8-1]
UniGeneiHs.9234.

3D structure databases

ProteinModelPortaliQ9BVK8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115698. 9 interactions.
IntActiQ9BVK8. 5 interactions.
MINTiMINT-1036854.
STRINGi9606.ENSP00000222284.

PTM databases

iPTMnetiQ9BVK8.
PhosphoSiteiQ9BVK8.

Polymorphism and mutation databases

BioMutaiTMEM147.
DMDMi74733336.

Proteomic databases

EPDiQ9BVK8.
MaxQBiQ9BVK8.
PaxDbiQ9BVK8.
PeptideAtlasiQ9BVK8.
PRIDEiQ9BVK8.

Protocols and materials databases

DNASUi10430.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222284; ENSP00000222284; ENSG00000105677. [Q9BVK8-1]
ENST00000392204; ENSP00000376040; ENSG00000105677. [Q9BVK8-2]
GeneIDi10430.
KEGGihsa:10430.
UCSCiuc002oai.3. human. [Q9BVK8-1]

Organism-specific databases

CTDi10430.
GeneCardsiTMEM147.
HGNCiHGNC:30414. TMEM147.
MIMi613585. gene.
neXtProtiNX_Q9BVK8.
PharmGKBiPA144596255.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3236. Eukaryota.
ENOG41101UF. LUCA.
GeneTreeiENSGT00390000013276.
HOGENOMiHOG000005667.
HOVERGENiHBG094059.
InParanoidiQ9BVK8.
OMAiFVGEFMK.
OrthoDBiEOG7KDFC1.
PhylomeDBiQ9BVK8.
TreeFamiTF314086.

Miscellaneous databases

ChiTaRSiTMEM147. human.
GenomeRNAii10430.
PROiQ9BVK8.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BVK8.
CleanExiHS_TMEM147.
ExpressionAtlasiQ9BVK8. baseline and differential.
GenevisibleiQ9BVK8. HS.

Family and domain databases

InterProiIPR019164. DUF2053_membrane.
[Graphical view]
PANTHERiPTHR12869. PTHR12869. 1 hit.
PfamiPF09767. DUF2053. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of a novel putative seven transmembrane domain protein from human lingual tissue."
    Daniell S.J., Perry B.N., Connerton I.F.
    Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Tongue epithelium.
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORMS 1 AND 2).
    Tissue: Ovary and Skin.
  4. "Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex."
    Dettmer U., Kuhn P.H., Abou-Ajram C., Lichtenthaler S.F., Kruger M., Kremmer E., Haass C., Haffner C.
    J. Biol. Chem. 285:26174-26181(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NCLN AND NOMO2, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiTM147_HUMAN
AccessioniPrimary (citable) accession number: Q9BVK8
Secondary accession number(s): A8MWW0, O75790
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: June 1, 2001
Last modified: July 6, 2016
This is version 97 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 19
    Human chromosome 19: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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.