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Protein

Uncharacterized protein C4orf26

Gene

C4orf26

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

Functioni

Might promote nucleation of hydroxyapatite.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C4orf26
Gene namesi
Name:C4orf26
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:26300. C4orf26.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta, hypomaturation type, 2A4 (AI2A4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
See also OMIM:614832

Keywords - Diseasei

Amelogenesis imperfecta

Organism-specific databases

DisGeNETi152816.
MalaCardsiC4orf26.
MIMi614832. phenotype.
OpenTargetsiENSG00000174792.
Orphaneti100033. Hypomaturation amelogenesis imperfecta.
PharmGKBiPA145008917.

Polymorphism and mutation databases

BioMutaiC4orf26.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000030195924 – 130Uncharacterized protein C4orf26Add BLAST107

Proteomic databases

PaxDbiQ17RF5.
PRIDEiQ17RF5.

PTM databases

iPTMnetiQ17RF5.
PhosphoSitePlusiQ17RF5.

Expressioni

Tissue specificityi

Highly expressed in placenta.1 Publication

Gene expression databases

BgeeiENSG00000174792.
CleanExiHS_C4orf26.
ExpressionAtlasiQ17RF5. baseline and differential.
GenevisibleiQ17RF5. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MDFIQ997505EBI-10239029,EBI-724076

Protein-protein interaction databases

BioGridi127467. 38 interactors.
IntActiQ17RF5. 2 interactors.
STRINGi9606.ENSP00000406925.

Structurei

3D structure databases

ProteinModelPortaliQ17RF5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J25H. Eukaryota.
ENOG4111CNB. LUCA.
GeneTreeiENSGT00560000078715.
HOGENOMiHOG000111465.
InParanoidiQ17RF5.
OMAiFHEGPES.
OrthoDBiEOG091G0MHK.
PhylomeDBiQ17RF5.

Family and domain databases

InterProiIPR031706. DUF4721.
[Graphical view]
PfamiPF15848. DUF4721. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q17RF5-1) [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
MARRHCFSYW LLVCWLVVTV AEGQEEVFTP PGDSQNNADA TDCQIFTLTP
60 70 80 90 100
PPAPRSPVTR AQPITKTPRC PFHFFPRRPR IHFRFPNRPF VPSRCNHRFP
110 120 130
FQPFYWPHRY LTYRYFPRRR LQRGSSSEES
Length:130
Mass (Da):15,556
Last modified:July 25, 2006 - v1
Checksum:i5E0FDD63FB5F2C75
GO
Isoform 2 (identifier: Q17RF5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-130: GQEEVFTPPG...LQRGSSSEES → ALSTFYLQQH...QKDFCFIFRN

Note: No experimental confirmation available.Curated
Show »
Length:176
Mass (Da):20,435
Checksum:i7A72DB6C98635C21
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q17RF5-2)
Sequence conflicti45L → F in BAG61995 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03491530P → L.1 PublicationCorresponds to variant rs2306175dbSNPEnsembl.1
Natural variantiVAR_034916109R → H.Corresponds to variant rs2306174dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04635623 – 130GQEEV…SSEES → ALSTFYLQQHINLHMDKKRY LRLLEIHKIMRTLPTARSLH SPLHLPRGVRSQGPSPSQRH PGVPSIFFHEGPESILGFQT DLSSLQGVTTVFHSSHFIGH TVTLLIGISPEEDSREEAHL RKAEREEKPKHTEAKKSLSF RKKQQKDFCFIFRN in isoform 2. 1 PublicationAdd BLAST108

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074237 mRNA. Translation: BAB85027.1.
AK172776 mRNA. Translation: BAD18758.1.
AK300227 mRNA. Translation: BAG61995.1.
AC096759 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX05738.1.
BC117342 mRNA. Translation: AAI17343.1.
CCDSiCCDS3569.1. [Q17RF5-1]
CCDS56334.1. [Q17RF5-2]
RefSeqiNP_001193910.1. NM_001206981.1. [Q17RF5-2]
NP_001244001.1. NM_001257072.1.
NP_848592.2. NM_178497.3. [Q17RF5-1]
XP_011529970.1. XM_011531668.2. [Q17RF5-2]
UniGeneiHs.24510.

Genome annotation databases

EnsembliENST00000311623; ENSP00000311307; ENSG00000174792. [Q17RF5-1]
ENST00000435974; ENSP00000406925; ENSG00000174792. [Q17RF5-2]
GeneIDi152816.
KEGGihsa:152816.
UCSCiuc003hip.3. human. [Q17RF5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074237 mRNA. Translation: BAB85027.1.
AK172776 mRNA. Translation: BAD18758.1.
AK300227 mRNA. Translation: BAG61995.1.
AC096759 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX05738.1.
BC117342 mRNA. Translation: AAI17343.1.
CCDSiCCDS3569.1. [Q17RF5-1]
CCDS56334.1. [Q17RF5-2]
RefSeqiNP_001193910.1. NM_001206981.1. [Q17RF5-2]
NP_001244001.1. NM_001257072.1.
NP_848592.2. NM_178497.3. [Q17RF5-1]
XP_011529970.1. XM_011531668.2. [Q17RF5-2]
UniGeneiHs.24510.

3D structure databases

ProteinModelPortaliQ17RF5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127467. 38 interactors.
IntActiQ17RF5. 2 interactors.
STRINGi9606.ENSP00000406925.

PTM databases

iPTMnetiQ17RF5.
PhosphoSitePlusiQ17RF5.

Polymorphism and mutation databases

BioMutaiC4orf26.

Proteomic databases

PaxDbiQ17RF5.
PRIDEiQ17RF5.

Protocols and materials databases

DNASUi152816.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311623; ENSP00000311307; ENSG00000174792. [Q17RF5-1]
ENST00000435974; ENSP00000406925; ENSG00000174792. [Q17RF5-2]
GeneIDi152816.
KEGGihsa:152816.
UCSCiuc003hip.3. human. [Q17RF5-1]

Organism-specific databases

CTDi152816.
DisGeNETi152816.
GeneCardsiC4orf26.
HGNCiHGNC:26300. C4orf26.
MalaCardsiC4orf26.
MIMi614829. gene.
614832. phenotype.
neXtProtiNX_Q17RF5.
OpenTargetsiENSG00000174792.
Orphaneti100033. Hypomaturation amelogenesis imperfecta.
PharmGKBiPA145008917.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J25H. Eukaryota.
ENOG4111CNB. LUCA.
GeneTreeiENSGT00560000078715.
HOGENOMiHOG000111465.
InParanoidiQ17RF5.
OMAiFHEGPES.
OrthoDBiEOG091G0MHK.
PhylomeDBiQ17RF5.

Miscellaneous databases

ChiTaRSiC4orf26. human.
GenomeRNAii152816.
PROiQ17RF5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174792.
CleanExiHS_C4orf26.
ExpressionAtlasiQ17RF5. baseline and differential.
GenevisibleiQ17RF5. HS.

Family and domain databases

InterProiIPR031706. DUF4721.
[Graphical view]
PfamiPF15848. DUF4721. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCD026_HUMAN
AccessioniPrimary (citable) accession number: Q17RF5
Secondary accession number(s): B4DTI3, E7ETQ0, Q8TEC3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: July 25, 2006
Last modified: November 30, 2016
This is version 78 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 4
    Human chromosome 4: 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.