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Entry version 118 (07 Apr 2021)
Sequence version 2 (18 May 2010)
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Protein

Uncharacterized protein C8orf48

Gene

C8orf48

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96LL4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Uncharacterized protein C8orf48
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:C8orf48
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:26345, C8orf48

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96LL4

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000164743.4

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

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OpenTargetsi
ENSG00000164743

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672367

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96LL4, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C8orf48

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434445

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002856311 – 319Uncharacterized protein C8orf48Add BLAST319

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96LL4

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96LL4

PeptideAtlas

More...
PeptideAtlasi
Q96LL4

PRoteomics IDEntifications database

More...
PRIDEi
Q96LL4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77222

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96LL4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96LL4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164743, Expressed in testis and 130 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96LL4, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000164743, Tissue enhanced (brain, testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
127623, 6 interactors

Protein interaction database and analysis system

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IntActi
Q96LL4, 24 interactors

Molecular INTeraction database

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MINTi
Q96LL4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000297324

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96LL4, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502S4XK, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000008508

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_073087_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96LL4

Identification of Orthologs from Complete Genome Data

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OMAi
EHLHTKD

Database of Orthologous Groups

More...
OrthoDBi
1261511at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96LL4

TreeFam database of animal gene trees

More...
TreeFami
TF328632

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027932, DUF4606

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15379, DUF4606, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i982FBEF36007A38A
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB71692 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti158A → T in BAB71692 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06313428S → F3 PublicationsCorresponds to variant dbSNP:rs13273355Ensembl.1
Natural variantiVAR_063135285L → M3 PublicationsCorresponds to variant dbSNP:rs11203497Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS47809.1

NCBI Reference Sequences

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RefSeqi
NP_001007091.1, NM_001007090.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000297324; ENSP00000297324; ENSG00000164743

Database of genes from NCBI RefSeq genomes

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GeneIDi
157773

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:157773

UCSC genome browser

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UCSCi
uc003wwp.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi127623, 6 interactors
IntActiQ96LL4, 24 interactors
MINTiQ96LL4
STRINGi9606.ENSP00000297324

PTM databases

iPTMnetiQ96LL4
PhosphoSitePlusiQ96LL4

Genetic variation databases

BioMutaiC8orf48
DMDMi296434445

Proteomic databases

MassIVEiQ96LL4
PaxDbiQ96LL4
PeptideAtlasiQ96LL4
PRIDEiQ96LL4
ProteomicsDBi77222

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
21009, 94 antibodies

The DNASU plasmid repository

More...
DNASUi
157773

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
157773

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C8orf48
HGNCiHGNC:26345, C8orf48
HPAiENSG00000164743, Tissue enhanced (brain, testis)
neXtProtiNX_Q96LL4
OpenTargetsiENSG00000164743
PharmGKBiPA142672367
VEuPathDBiHostDB:ENSG00000164743.4

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502S4XK, Eukaryota
GeneTreeiENSGT00390000008508
HOGENOMiCLU_073087_0_0_1
InParanoidiQ96LL4
OMAiEHLHTKD
OrthoDBi1261511at2759
PhylomeDBiQ96LL4
TreeFamiTF328632

Enzyme and pathway databases

PathwayCommonsiQ96LL4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
157773, 8 hits in 977 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
157773
PharosiQ96LL4, Tdark

Protein Ontology

More...
PROi
PR:Q96LL4
RNActiQ96LL4, protein

Gene expression databases

BgeeiENSG00000164743, Expressed in testis and 130 other tissues
GenevisibleiQ96LL4, HS

Family and domain databases

InterProiView protein in InterPro
IPR027932, DUF4606
PfamiView protein in Pfam
PF15379, DUF4606, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCH048_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96LL4
Secondary accession number(s): Q96LJ9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 18, 2010
Last modified: April 7, 2021
This is version 118 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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