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Protein

Protein FRA10AC1

Gene

FRA10AC1

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

Functioni

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.

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

EuPathDBiHostDB:ENSG00000148690.11
HGNCiHGNC:1162 FRA10AC1
MIMi608866 gene+phenotype
neXtProtiNX_Q70Z53

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

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
ProteomicsDBi68583
68584 [Q70Z53-2]
68585 [Q70Z53-3]
68586 [Q70Z53-4]
68587 [Q70Z53-5]

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 Expressed in 203 organ(s), highest expression level in caudate nucleus
CleanExiHS_C10orf4
GenevisibleiQ70Z53 HS

Organism-specific databases

HPAiHPA039204

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi125626, 38 interactors
IntActiQ70Z53, 26 interactors
MINTiQ70Z53
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
OMAiDEMDMNW
OrthoDBiEOG091G115J
PhylomeDBiQ70Z53
TreeFamiTF323667

Family and domain databases

InterProiView protein in InterPro
IPR019129 Folate-sensitive_fs_Fra10Ac1
PfamiView protein in Pfam
PF09725 Fra10Ac1, 1 hit

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 → HCombined sources2 PublicationsCorresponds to variant dbSNP:rs726817Ensembl.1
Natural variantiVAR_02323878T → R2 PublicationsCorresponds to variant dbSNP:rs2275438Ensembl.1
Natural variantiVAR_056872251S → F. Corresponds to variant dbSNP:rs11187583Ensembl.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 No translation available.
BC018007 mRNA Translation: AAH18007.1
AF305826 mRNA Translation: AAK55529.1 Sequence problems.
CCDSiCCDS7430.1 [Q70Z53-1]
RefSeqiNP_001334641.1, NM_001347712.1 [Q70Z53-1]
NP_001334642.1, NM_001347713.1 [Q70Z53-1]
NP_001334643.1, NM_001347714.1 [Q70Z53-1]
NP_001334644.1, NM_001347715.1 [Q70Z53-1]
NP_660289.2, NM_145246.4 [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

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 122 of the entry and version 3 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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