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Protein

UPF0690 protein C1orf52

Gene

C1orf52

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

Functioni

GO - Molecular functioni

Names & Taxonomyi

Protein namesi
Recommended name:
UPF0690 protein C1orf52
Alternative name(s):
BCL10-associated gene protein
Gene namesi
Name:C1orf52
Synonyms:BAG
ORF Names:GM117
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162642.13
HGNCiHGNC:24871 C1orf52
neXtProtiNX_Q8N6N3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi148423
OpenTargetsiENSG00000162642
PharmGKBiPA142672503

Polymorphism and mutation databases

BioMutaiC1orf52

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002546301 – 182UPF0690 protein C1orf52Add BLAST182

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei67PhosphothreonineCombined sources1
Modified residuei132PhosphotyrosineCombined sources1
Modified residuei158PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N6N3
MaxQBiQ8N6N3
PaxDbiQ8N6N3
PeptideAtlasiQ8N6N3
PRIDEiQ8N6N3
ProteomicsDBi72204
72205 [Q8N6N3-2]
72206 [Q8N6N3-3]

PTM databases

iPTMnetiQ8N6N3
PhosphoSitePlusiQ8N6N3

Expressioni

Tissue specificityi

Expressed in all tissues tested including heart, placenta, liver, skeletal muscle, kidney and pancreas. Weak expression in brain and lung.1 Publication

Gene expression databases

BgeeiENSG00000162642
CleanExiHS_C1orf52
GenevisibleiQ8N6N3 HS

Organism-specific databases

HPAiHPA036072
HPA061790

Interactioni

Protein-protein interaction databases

BioGridi127149, 21 interactors
IntActiQ8N6N3, 18 interactors
MINTiQ8N6N3

Structurei

3D structure databases

ProteinModelPortaliQ8N6N3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UPF0690 family.Curated

Phylogenomic databases

eggNOGiENOG410IH5J Eukaryota
ENOG4111NBN LUCA
GeneTreeiENSGT00390000017398
HOGENOMiHOG000111220
HOVERGENiHBG066291
InParanoidiQ8N6N3
OMAiRVETFQQ
OrthoDBiEOG091G12Z3
PhylomeDBiQ8N6N3
TreeFamiTF333299

Family and domain databases

InterProiView protein in InterPro
IPR029089 DUF4660
PfamiView protein in Pfam
PF15559 DUF4660, 1 hit

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N6N3-1) [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
MAAEEKDPLS YFAAYGSSSS GSSDEEDNIE PEETSRRTPD PAKSAGGCRN
60 70 80 90 100
KAEKRLPGPD ELFRSVTRPA FLYNPLNKQI DWERHVVKAP EEPPKEFKIW
110 120 130 140 150
KSNYVPPPET YTTEKKPPPP ELDMAIKWSN IYEDNGDDAP QNAKKARLLP
160 170 180
EGEETLESDD EKDEHTSKKR KVEPGEPAKK KK
Length:182
Mass (Da):20,599
Last modified:October 1, 2002 - v1
Checksum:i77CFC1D3300C9329
GO
Isoform 2 (identifier: Q8N6N3-2) [UniParc]FASTAAdd to basket
Also known as: GM117 form A

The sequence of this isoform differs from the canonical sequence as follows:
     159-167: DDEKDEHTS → ALEDLEIQN
     168-182: Missing.

Show »
Length:167
Mass (Da):18,835
Checksum:iCDFAC828FC3E10A3
GO
Isoform 3 (identifier: Q8N6N3-3) [UniParc]FASTAAdd to basket
Also known as: GM117 form B

The sequence of this isoform differs from the canonical sequence as follows:
     93-100: PPKEFKIW → LLPETPSL
     101-182: Missing.

Show »
Length:100
Mass (Da):11,107
Checksum:i327B62B9A6F9E537
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02126793 – 100PPKEFKIW → LLPETPSL in isoform 3. 3 Publications8
Alternative sequenceiVSP_021268101 – 182Missing in isoform 3. 3 PublicationsAdd BLAST82
Alternative sequenceiVSP_021269159 – 167DDEKDEHTS → ALEDLEIQN in isoform 2. 1 Publication9
Alternative sequenceiVSP_021270168 – 182Missing in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF387611 mRNA Translation: AAL91352.1
AF387612 mRNA Translation: AAL91353.1
AY486331 mRNA Translation: AAS57906.1
AY486332 mRNA Translation: AAS57907.1
AK126929 mRNA Translation: BAG54401.1
AL590113 Genomic DNA No translation available.
BC029538 mRNA Translation: AAH29538.1
CCDSiCCDS703.1 [Q8N6N3-1]
RefSeqiNP_932343.1, NM_198077.3 [Q8N6N3-1]
UniGeneiHs.26226

Genome annotation databases

EnsembliENST00000344356; ENSP00000345092; ENSG00000162642 [Q8N6N3-2]
ENST00000471115; ENSP00000419417; ENSG00000162642 [Q8N6N3-1]
GeneIDi148423
KEGGihsa:148423
UCSCiuc001dkv.4 human [Q8N6N3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCA052_HUMAN
AccessioniPrimary (citable) accession number: Q8N6N3
Secondary accession number(s): B3KX89, Q8TDK5, Q8TDK6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 1, 2002
Last modified: June 20, 2018
This is version 116 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

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