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Protein

Protein FRA10AC1

Gene

FRA10AC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FRA10AC1
Gene namesi
Name:FRA10AC1
Synonyms:C10orf4
ORF Names:PRO2972
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:1162. FRA10AC1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

MIMi608866. gene+phenotype.
OpenTargetsiENSG00000148690.
PharmGKBiPA25476.

Polymorphism and mutation databases

BioMutaiFRA10AC1.
DMDMi296439361.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871481 – 315Protein FRA10AC1Add BLAST315

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei9PhosphoserineBy similarity1
Modified residuei12PhosphoserineCombined sources1
Modified residuei36N6-acetyllysineBy similarity1
Modified residuei251PhosphoserineCombined sources1
Modified residuei252PhosphoserineCombined sources1
Modified residuei278PhosphoserineCombined sources1
Modified residuei283PhosphoserineBy similarity1
Modified residuei285PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ70Z53.
MaxQBiQ70Z53.
PaxDbiQ70Z53.
PeptideAtlasiQ70Z53.
PRIDEiQ70Z53.

PTM databases

iPTMnetiQ70Z53.
PhosphoSitePlusiQ70Z53.

Expressioni

Tissue specificityi

Ubiquitously expressed with higher expression in brain, heart, skeletal muscle, kidney and liver.1 Publication

Gene expression databases

BgeeiENSG00000148690.
CleanExiHS_C10orf4.
GenevisibleiQ70Z53. HS.

Organism-specific databases

HPAiHPA039204.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CHERPQ8IWX82EBI-710176,EBI-2555370
DGCR14Q96DF82EBI-710176,EBI-3928124
IKQ131232EBI-710176,EBI-713456
MAP3K12Q128522EBI-710176,EBI-710223
SF3B2Q134352EBI-710176,EBI-749111

Protein-protein interaction databases

BioGridi125626. 33 interactors.
IntActiQ70Z53. 26 interactors.
MINTiMINT-1416428.
STRINGi9606.ENSP00000360488.

Structurei

3D structure databases

ProteinModelPortaliQ70Z53.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi129 – 269Lys-richAdd BLAST141

Phylogenomic databases

eggNOGiKOG1297. Eukaryota.
ENOG410YN91. LUCA.
GeneTreeiENSGT00390000017833.
HOVERGENiHBG059566.
InParanoidiQ70Z53.
KOiK13121.
OMAiSQLFPVN.
OrthoDBiEOG091G115J.
PhylomeDBiQ70Z53.
TreeFamiTF323667.

Family and domain databases

InterProiIPR019129. Folate-sensitive_fs_Fra10Ac1.
[Graphical view]
PfamiPF09725. Fra10Ac1. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q70Z53-1) [UniParc]FASTAAdd to basket
Also known as: FRA10AC1-1

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
MHGHGGYDSD FSDDERCGES SKRKKRTVED DLLLQKPFQK EKHGKVAHKQ
60 70 80 90 100
VAAELLDREE ARNRRFHLIA MDAYQRHTKF VNDYILYYGG KKEDFKRLGE
110 120 130 140 150
NDKTDLDVIR ENHRFLWNEE DEMDMTWEKR LAKKYYDKLF KEYCIADLSK
160 170 180 190 200
YKENKFGFRW RVEKEVISGK GQFFCGNKYC DKKEGLKSWE VNFGYIEHGE
210 220 230 240 250
KRNALVKLRL CQECSIKLNF HHRRKEIKSK KRKDKTKKDC EESSHKKSRL
260 270 280 290 300
SSAEEASKKK DKGHSSSKKS EDSLLRNSDE EESASESELW KGPLPETDEK
310
SQEEEFDEYF QDLFL
Length:315
Mass (Da):37,548
Last modified:May 18, 2010 - v3
Checksum:i418963E63A34EE9E
GO
Isoform 2 (identifier: Q70Z53-2) [UniParc]FASTAAdd to basket
Also known as: FRA10AC1-2

The sequence of this isoform differs from the canonical sequence as follows:
     276-276: R → N
     277-315: Missing.

Show »
Length:276
Mass (Da):32,896
Checksum:iC49F4A55F0E34BB9
GO
Isoform 3 (identifier: Q70Z53-3) [UniParc]FASTAAdd to basket
Also known as: FRA10AC1-3.1

The sequence of this isoform differs from the canonical sequence as follows:
     276-315: RNSDEEESAS...FDEYFQDLFL → RRMLEELQMF...LSANVTTLKL

Show »
Length:315
Mass (Da):37,486
Checksum:iEDC0813749CAF011
GO
Isoform 4 (identifier: Q70Z53-4) [UniParc]FASTAAdd to basket
Also known as: FRA10AC1-3.2

The sequence of this isoform differs from the canonical sequence as follows:
     276-292: RNSDEEESASESELWKG → KTYFVGLLSESNEKTYM
     293-315: Missing.

Show »
Length:292
Mass (Da):34,774
Checksum:i86E2A92B6C2432B4
GO
Isoform 5 (identifier: Q70Z53-5) [UniParc]FASTAAdd to basket
Also known as: FRA10AC1-3.3

The sequence of this isoform differs from the canonical sequence as follows:
     276-315: RNSDEEESAS...FDEYFQDLFL → NGVMLFHPGW...NNHYWRGVVC

Show »
Length:313
Mass (Da):36,919
Checksum:iAF49C271FE914EAD
GO

Sequence cautioni

The sequence AAK55529 differs from that shown. Chimeric cDNA.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti81V → I in CAD24470 (PubMed:15203205).Curated1
Sequence conflicti81V → I in CAD24471 (PubMed:15203205).Curated1
Sequence conflicti81V → I in CAD24472 (PubMed:15203205).Curated1
Sequence conflicti81V → I in CAD24473 (PubMed:15203205).Curated1
Sequence conflicti81V → I in CAD24474 (PubMed:15203205).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02323716R → H.Combined sources2 PublicationsCorresponds to variant rs726817dbSNPEnsembl.1
Natural variantiVAR_02323878T → R.2 PublicationsCorresponds to variant rs2275438dbSNPEnsembl.1
Natural variantiVAR_056872251S → F.Corresponds to variant rs11187583dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015123276 – 315RNSDE…QDLFL → RRMLEELQMFTWEKSERMGG KRLIIIIGEELSANVTTLKL in isoform 3. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_015124276 – 315RNSDE…QDLFL → NGVMLFHPGWSAVARSQLTA APASQVQTNNHYWRGVVC in isoform 5. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_015125276 – 292RNSDE…ELWKG → KTYFVGLLSESNEKTYM in isoform 4. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_015126276R → N in isoform 2. 1 Publication1
Alternative sequenceiVSP_015127277 – 315Missing in isoform 2. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_015128293 – 315Missing in isoform 4. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ431721 mRNA. Translation: CAD24470.1.
AJ431722 mRNA. Translation: CAD24471.1.
AJ431723 mRNA. Translation: CAD24472.1.
AJ431724 mRNA. Translation: CAD24473.1.
AJ431725 mRNA. Translation: CAD24474.1.
AK090955 mRNA. Translation: BAC03556.1.
AL157396 Genomic DNA. Translation: CAH73836.1.
BC018007 mRNA. Translation: AAH18007.1.
AF305826 mRNA. Translation: AAK55529.1. Sequence problems.
CCDSiCCDS7430.1. [Q70Z53-1]
RefSeqiNP_660289.2. NM_145246.4. [Q70Z53-1]
XP_005269572.1. XM_005269515.4. [Q70Z53-1]
XP_005269573.1. XM_005269516.4. [Q70Z53-1]
XP_011537562.1. XM_011539260.2. [Q70Z53-1]
XP_016871150.1. XM_017015661.1. [Q70Z53-1]
UniGeneiHs.586650.

Genome annotation databases

EnsembliENST00000359204; ENSP00000360488; ENSG00000148690. [Q70Z53-1]
GeneIDi118924.
KEGGihsa:118924.
UCSCiuc001kiz.2. human. [Q70Z53-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ431721 mRNA. Translation: CAD24470.1.
AJ431722 mRNA. Translation: CAD24471.1.
AJ431723 mRNA. Translation: CAD24472.1.
AJ431724 mRNA. Translation: CAD24473.1.
AJ431725 mRNA. Translation: CAD24474.1.
AK090955 mRNA. Translation: BAC03556.1.
AL157396 Genomic DNA. Translation: CAH73836.1.
BC018007 mRNA. Translation: AAH18007.1.
AF305826 mRNA. Translation: AAK55529.1. Sequence problems.
CCDSiCCDS7430.1. [Q70Z53-1]
RefSeqiNP_660289.2. NM_145246.4. [Q70Z53-1]
XP_005269572.1. XM_005269515.4. [Q70Z53-1]
XP_005269573.1. XM_005269516.4. [Q70Z53-1]
XP_011537562.1. XM_011539260.2. [Q70Z53-1]
XP_016871150.1. XM_017015661.1. [Q70Z53-1]
UniGeneiHs.586650.

3D structure databases

ProteinModelPortaliQ70Z53.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125626. 33 interactors.
IntActiQ70Z53. 26 interactors.
MINTiMINT-1416428.
STRINGi9606.ENSP00000360488.

PTM databases

iPTMnetiQ70Z53.
PhosphoSitePlusiQ70Z53.

Polymorphism and mutation databases

BioMutaiFRA10AC1.
DMDMi296439361.

Proteomic databases

EPDiQ70Z53.
MaxQBiQ70Z53.
PaxDbiQ70Z53.
PeptideAtlasiQ70Z53.
PRIDEiQ70Z53.

Protocols and materials databases

DNASUi118924.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359204; ENSP00000360488; ENSG00000148690. [Q70Z53-1]
GeneIDi118924.
KEGGihsa:118924.
UCSCiuc001kiz.2. human. [Q70Z53-1]

Organism-specific databases

CTDi118924.
GeneCardsiFRA10AC1.
H-InvDBHIX0009048.
HGNCiHGNC:1162. FRA10AC1.
HPAiHPA039204.
MIMi608866. gene+phenotype.
neXtProtiNX_Q70Z53.
OpenTargetsiENSG00000148690.
PharmGKBiPA25476.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1297. Eukaryota.
ENOG410YN91. LUCA.
GeneTreeiENSGT00390000017833.
HOVERGENiHBG059566.
InParanoidiQ70Z53.
KOiK13121.
OMAiSQLFPVN.
OrthoDBiEOG091G115J.
PhylomeDBiQ70Z53.
TreeFamiTF323667.

Miscellaneous databases

ChiTaRSiFRA10AC1. human.
GeneWikiiC10orf4.
GenomeRNAii118924.
PROiQ70Z53.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148690.
CleanExiHS_C10orf4.
GenevisibleiQ70Z53. HS.

Family and domain databases

InterProiIPR019129. Folate-sensitive_fs_Fra10Ac1.
[Graphical view]
PfamiPF09725. Fra10Ac1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiF10C1_HUMAN
AccessioniPrimary (citable) accession number: Q70Z53
Secondary accession number(s): C9JCR4
, C9JCR5, C9JMY4, Q70Z49, Q70Z50, Q70Z51, Q70Z52, Q8N293, Q8WVH5, Q96JQ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 110 of the entry and version 3 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

Miscellaneous

Expansion of a polymorphic CGG repeat within the 5'-UTR of this gene FRA10AC1 may be the cause of folate-sensitive fragile site FRA10A expression which is characterized by chromosomal breakage under specific cell culture conditions. No distinct phenotype has been associated with expression of FRA10A. Nevertheless, some studies have proposed that this fragile site expression might be associated with mental retardation, tumorigenesis, or neurological disorders. However, these associations can be attributed to ascertainment bias.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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.