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Protein

Uncharacterized protein C8orf48

Gene

C8orf48

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164743-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C8orf48
Gene namesi
Name:C8orf48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:26345. C8orf48.

Pathology & Biotechi

Organism-specific databases

DisGeNETi157773.
OpenTargetsiENSG00000164743.
PharmGKBiPA142672367.

Polymorphism and mutation databases

BioMutaiC8orf48.
DMDMi296434445.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002856311 – 319Uncharacterized protein C8orf48Add BLAST319

Proteomic databases

EPDiQ96LL4.
PaxDbiQ96LL4.
PeptideAtlasiQ96LL4.
PRIDEiQ96LL4.

PTM databases

iPTMnetiQ96LL4.
PhosphoSitePlusiQ96LL4.

Expressioni

Gene expression databases

BgeeiENSG00000164743.
CleanExiHS_C8orf48.
GenevisibleiQ96LL4. HS.

Organism-specific databases

HPAiHPA025068.
HPA026107.
HPA027431.
HPA027440.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KRT40Q6A1623EBI-751596,EBI-10171697
MDFIQ997505EBI-751596,EBI-724076

Protein-protein interaction databases

BioGridi127623. 4 interactors.
IntActiQ96LL4. 6 interactors.
MINTiMINT-1475655.
STRINGi9606.ENSP00000297324.

Structurei

3D structure databases

ProteinModelPortaliQ96LL4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IZFK. Eukaryota.
ENOG41128SB. LUCA.
GeneTreeiENSGT00390000008508.
HOGENOMiHOG000111617.
HOVERGENiHBG107144.
InParanoidiQ96LL4.
OMAiQEKIDEH.
OrthoDBiEOG091G0MIA.
PhylomeDBiQ96LL4.
TreeFamiTF328632.

Family and domain databases

InterProiIPR027932. DUF4606.
[Graphical view]
PfamiPF15379. DUF4606. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96LL4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAICPELAQT DKSALANLSD ETETLKNSTD EVQTSSSFSS SGGRQSSPLT
60 70 80 90 100
SGSKLEREKQ TPSLEQGDTQ SELLDYKNYE KKLSKKWINY LKLKDSNFER
110 120 130 140 150
HQPDTKLPTE ITRVSDEELN ALQSYCTMKI NLIHRRGDSK KKTSSRHKKL
160 170 180 190 200
HLGLDVEASE RDAFSCTVPD ELLNRIYFKN MRTTPKQEAA AKQHISYQCP
210 220 230 240 250
YCNRKRAELA LSAFLKQKKT LLESFLLQER IDEHLHTKDF LTRIGEAHQD
260 270 280 290 300
FPRLSDDPRI IWKRLTEKSH IRYSGFERSE TEQKLQRDGN SACHLPFSLP
310
FLKRLTLIKP ELVIVNDNV
Length:319
Mass (Da):36,790
Last modified:May 18, 2010 - v2
Checksum:i982FBEF36007A38A
GO

Sequence cautioni

The sequence BAB71692 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti158A → T in BAB71692 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06313428S → F.3 PublicationsCorresponds to variant rs13273355dbSNPEnsembl.1
Natural variantiVAR_063135285L → M.3 PublicationsCorresponds to variant rs11203497dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF394908 mRNA. Translation: AAQ02889.1.
AK058131 mRNA. Translation: BAB71677.1.
AK058156 mRNA. Translation: BAB71692.1. Different initiation.
AC022832 Genomic DNA. No translation available.
BC031245 mRNA. Translation: AAH31245.1.
CCDSiCCDS47809.1.
RefSeqiNP_001007091.1. NM_001007090.2.
UniGeneiHs.104941.

Genome annotation databases

EnsembliENST00000297324; ENSP00000297324; ENSG00000164743.
GeneIDi157773.
KEGGihsa:157773.
UCSCiuc003wwp.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF394908 mRNA. Translation: AAQ02889.1.
AK058131 mRNA. Translation: BAB71677.1.
AK058156 mRNA. Translation: BAB71692.1. Different initiation.
AC022832 Genomic DNA. No translation available.
BC031245 mRNA. Translation: AAH31245.1.
CCDSiCCDS47809.1.
RefSeqiNP_001007091.1. NM_001007090.2.
UniGeneiHs.104941.

3D structure databases

ProteinModelPortaliQ96LL4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127623. 4 interactors.
IntActiQ96LL4. 6 interactors.
MINTiMINT-1475655.
STRINGi9606.ENSP00000297324.

PTM databases

iPTMnetiQ96LL4.
PhosphoSitePlusiQ96LL4.

Polymorphism and mutation databases

BioMutaiC8orf48.
DMDMi296434445.

Proteomic databases

EPDiQ96LL4.
PaxDbiQ96LL4.
PeptideAtlasiQ96LL4.
PRIDEiQ96LL4.

Protocols and materials databases

DNASUi157773.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297324; ENSP00000297324; ENSG00000164743.
GeneIDi157773.
KEGGihsa:157773.
UCSCiuc003wwp.4. human.

Organism-specific databases

CTDi157773.
DisGeNETi157773.
GeneCardsiC8orf48.
HGNCiHGNC:26345. C8orf48.
HPAiHPA025068.
HPA026107.
HPA027431.
HPA027440.
neXtProtiNX_Q96LL4.
OpenTargetsiENSG00000164743.
PharmGKBiPA142672367.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZFK. Eukaryota.
ENOG41128SB. LUCA.
GeneTreeiENSGT00390000008508.
HOGENOMiHOG000111617.
HOVERGENiHBG107144.
InParanoidiQ96LL4.
OMAiQEKIDEH.
OrthoDBiEOG091G0MIA.
PhylomeDBiQ96LL4.
TreeFamiTF328632.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164743-MONOMER.

Miscellaneous databases

GenomeRNAii157773.
PROiQ96LL4.

Gene expression databases

BgeeiENSG00000164743.
CleanExiHS_C8orf48.
GenevisibleiQ96LL4. HS.

Family and domain databases

InterProiIPR027932. DUF4606.
[Graphical view]
PfamiPF15379. DUF4606. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCH048_HUMAN
AccessioniPrimary (citable) accession number: Q96LL4
Secondary accession number(s): Q96LJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 96 of the entry and version 2 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 8
    Human chromosome 8: 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

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.