Q70Z53 (F10C1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FRA10AC1

Gene names

Name:	FRA10AC1
Synonyms:	C10orf4
ORF Names:	PRO2972

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	315 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Nucleus Ref.1.
Tissue specificity	Ubiquitously expressed with higher expression in brain, heart, skeletal muscle, kidney and liver. Ref.1
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.
Sequence caution	The sequence AAK55529.1 differs from that shown. Reason: Chimeric cDNA.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
MAP3K12	Q12852	2	EBI-710176,EBI-710223

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q70Z53-1)

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.

Isoform 2 (identifier: Q70Z53-2)

Also known as: FRA10AC1-2;

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

Isoform 3 (identifier: Q70Z53-3)

Also known as: FRA10AC1-3.1;

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

Isoform 4 (identifier: Q70Z53-4)

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.

Isoform 5 (identifier: Q70Z53-5)

Also known as: FRA10AC1-3.3;

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 315	315	Protein FRA10AC1		PRO_0000087148
Regions
	Compositional bias	129 – 269	141	Lys-rich
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.7
	Modified residue	9	1	Phosphoserine Ref.7
	Modified residue	12	1	Phosphoserine Ref.7
	Modified residue	251	1	Phosphoserine Ref.6
	Modified residue	252	1	Phosphoserine Ref.6
	Modified residue	278	1	Phosphoserine Ref.7 Ref.8
	Modified residue	283	1	Phosphoserine Ref.7
	Modified residue	285	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	276 – 315	40	RNSDE…QDLFL → RRMLEELQMFTWEKSERMGG KRLIIIIGEELSANVTTLKL in isoform 3.		VSP_015123
	Alternative sequence	276 – 315	40	RNSDE…QDLFL → NGVMLFHPGWSAVARSQLTA APASQVQTNNHYWRGVVC in isoform 5.		VSP_015124
	Alternative sequence	276 – 292	17	RNSDE…ELWKG → KTYFVGLLSESNEKTYM in isoform 4.		VSP_015125
	Alternative sequence	276	1	R → N in isoform 2.		VSP_015126
	Alternative sequence	277 – 315	39	Missing in isoform 2.		VSP_015127
	Alternative sequence	293 – 315	23	Missing in isoform 4.		VSP_015128
	Natural variant	16	1	R → H. Ref.1 Ref.4 Corresponds to variant rs726817 [ dbSNP | Ensembl ].		VAR_023237
	Natural variant	78	1	T → R. Ref.1 Ref.4 Corresponds to variant rs2275438 [ dbSNP | Ensembl ].		VAR_023238
	Natural variant	251	1	S → F. Corresponds to variant rs11187583 [ dbSNP | Ensembl ].		VAR_056872
Experimental info
	Sequence conflict	81	1	V → I in CAD24470. Ref.1
	Sequence conflict	81	1	V → I in CAD24471. Ref.1
	Sequence conflict	81	1	V → I in CAD24472. Ref.1
	Sequence conflict	81	1	V → I in CAD24473. Ref.1
	Sequence conflict	81	1	V → I in CAD24474. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (FRA10AC1-1) [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 418963E63A34EE9E	FASTA	315	37,548
	10 20 30 40 50 60 MHGHGGYDSD FSDDERCGES SKRKKRTVED DLLLQKPFQK EKHGKVAHKQ VAAELLDREE 70 80 90 100 110 120 ARNRRFHLIA MDAYQRHTKF VNDYILYYGG KKEDFKRLGE NDKTDLDVIR ENHRFLWNEE 130 140 150 160 170 180 DEMDMTWEKR LAKKYYDKLF KEYCIADLSK YKENKFGFRW RVEKEVISGK GQFFCGNKYC 190 200 210 220 230 240 DKKEGLKSWE VNFGYIEHGE KRNALVKLRL CQECSIKLNF HHRRKEIKSK KRKDKTKKDC 250 260 270 280 290 300 EESSHKKSRL SSAEEASKKK DKGHSSSKKS EDSLLRNSDE EESASESELW KGPLPETDEK 310 SQEEEFDEYF QDLFL
	Isoform 2 (FRA10AC1-2) [UniParc]. Checksum: C49F4A55F0E34BB9	FASTA	276	32,896
	10 20 30 40 50 60 MHGHGGYDSD FSDDERCGES SKRKKRTVED DLLLQKPFQK EKHGKVAHKQ VAAELLDREE 70 80 90 100 110 120 ARNRRFHLIA MDAYQRHTKF VNDYILYYGG KKEDFKRLGE NDKTDLDVIR ENHRFLWNEE 130 140 150 160 170 180 DEMDMTWEKR LAKKYYDKLF KEYCIADLSK YKENKFGFRW RVEKEVISGK GQFFCGNKYC 190 200 210 220 230 240 DKKEGLKSWE VNFGYIEHGE KRNALVKLRL CQECSIKLNF HHRRKEIKSK KRKDKTKKDC 250 260 270 EESSHKKSRL SSAEEASKKK DKGHSSSKKS EDSLLN
	Isoform 3 (FRA10AC1-3.1) [UniParc]. Checksum: EDC0813749CAF011	FASTA	315	37,486
	10 20 30 40 50 60 MHGHGGYDSD FSDDERCGES SKRKKRTVED DLLLQKPFQK EKHGKVAHKQ VAAELLDREE 70 80 90 100 110 120 ARNRRFHLIA MDAYQRHTKF VNDYILYYGG KKEDFKRLGE NDKTDLDVIR ENHRFLWNEE 130 140 150 160 170 180 DEMDMTWEKR LAKKYYDKLF KEYCIADLSK YKENKFGFRW RVEKEVISGK GQFFCGNKYC 190 200 210 220 230 240 DKKEGLKSWE VNFGYIEHGE KRNALVKLRL CQECSIKLNF HHRRKEIKSK KRKDKTKKDC 250 260 270 280 290 300 EESSHKKSRL SSAEEASKKK DKGHSSSKKS EDSLLRRMLE ELQMFTWEKS ERMGGKRLII 310 IIGEELSANV TTLKL
	Isoform 4 (FRA10AC1-3.2) [UniParc]. Checksum: 86E2A92B6C2432B4	FASTA	292	34,774
	10 20 30 40 50 60 MHGHGGYDSD FSDDERCGES SKRKKRTVED DLLLQKPFQK EKHGKVAHKQ VAAELLDREE 70 80 90 100 110 120 ARNRRFHLIA MDAYQRHTKF VNDYILYYGG KKEDFKRLGE NDKTDLDVIR ENHRFLWNEE 130 140 150 160 170 180 DEMDMTWEKR LAKKYYDKLF KEYCIADLSK YKENKFGFRW RVEKEVISGK GQFFCGNKYC 190 200 210 220 230 240 DKKEGLKSWE VNFGYIEHGE KRNALVKLRL CQECSIKLNF HHRRKEIKSK KRKDKTKKDC 250 260 270 280 290 EESSHKKSRL SSAEEASKKK DKGHSSSKKS EDSLLKTYFV GLLSESNEKT YM
	Isoform 5 (FRA10AC1-3.3) [UniParc]. Checksum: AF49C271FE914EAD	FASTA	313	36,919
	10 20 30 40 50 60 MHGHGGYDSD FSDDERCGES SKRKKRTVED DLLLQKPFQK EKHGKVAHKQ VAAELLDREE 70 80 90 100 110 120 ARNRRFHLIA MDAYQRHTKF VNDYILYYGG KKEDFKRLGE NDKTDLDVIR ENHRFLWNEE 130 140 150 160 170 180 DEMDMTWEKR LAKKYYDKLF KEYCIADLSK YKENKFGFRW RVEKEVISGK GQFFCGNKYC 190 200 210 220 230 240 DKKEGLKSWE VNFGYIEHGE KRNALVKLRL CQECSIKLNF HHRRKEIKSK KRKDKTKKDC 250 260 270 280 290 300 EESSHKKSRL SSAEEASKKK DKGHSSSKKS EDSLLNGVML FHPGWSAVAR SQLTAAPASQ 310 VQTNNHYWRG VVC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein." Sarafidou T., Kahl C., Martinez-Garay I., Mangelsdorf M., Gesk S., Baker E., Kokkinaki M., Talley P., Maltby E.L., French L., Harder L., Hinzmann B., Nobile C., Richkind K., Finnis M., Deloukas P., Sutherland G.R., Kutsche K. , Moschonas N.K., Siebert R., Gecz J. Genomics 84:69-81(2004) [PubMed: 15203205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS HIS-16 AND ARG-78.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Amygdala.
[3]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-16 AND ARG-78. Tissue: Brain.
[5]	"Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs." Yu Y., Zhang C., Zhou G., Wu S., Qu X., Wei H., Xing G., Dong C., Zhai Y., Wan J., Ouyang S., Li L., Zhang S., Zhou K., Zhang Y., Wu C., He F. Genome Res. 11:1392-1403(2001) [PubMed: 11483580] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 123-315. Tissue: Fetal liver.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-251 AND SER-252, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-9; SER-12; SER-278 AND SER-283, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[8]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-278, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00425669. IPI00425670. IPI00429177. IPI00429178. IPI00429179.
RefSeq	NP_660289.2. NM_145246.4.
UniGene	Hs.586650.
3D structure databases
ProteinModelPortal	Q70Z53.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q70Z53. 10 interactions.
MINT	MINT-1416428.
STRING	Q70Z53.
PTM databases
PhosphoSite	Q70Z53.
Polymorphism databases
DMDM	296439361.
Proteomic databases
PRIDE	Q70Z53.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000359204; ENSP00000360488; ENSG00000148690.
GeneID	118924.
KEGG	hsa:118924.
UCSC	uc001kiz.1. human.
Organism-specific databases
CTD	118924.
GeneCards	GC10M095427.
H-InvDB	HIX0009048.
HGNC	HGNC:1162. FRA10AC1.
HPA	HPA039204.
MIM	608866. gene+phenotype.
neXtProt	NX_Q70Z53.
PharmGKB	PA165548704. PA25476.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19525.
GeneTree	ENSGT00390000017833.
HOVERGEN	HBG059566.
InParanoid	Q70Z53.
OMA	NWEKRLA.
OrthoDB	EOG4X6C94.
PhylomeDB	Q70Z53.
Gene expression databases
ArrayExpress	Q70Z53.
Bgee	Q70Z53.
CleanEx	HS_C10orf4.
Genevestigator	Q70Z53.
GermOnline	ENSG00000148690. Homo sapiens.
Family and domain databases
InterPro	IPR019129. Folate-sensitive_fs_Fra10Ac1. [Graphical view]
KO	K13121.
Pfam	PF09725. Fra10Ac1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	80366.
SOURCE	Search...

Entry information

Entry name

F10C1_HUMAN

Accession

Primary (citable) accession number: Q70Z53
Secondary accession number(s): C9JCR4 , C9JCR5, C9JMY4, Q70Z49, Q70Z50, Q70Z51, Q70Z52, Q8N293, Q8WVH5, Q96JQ8

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2005
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 67 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.