Q8IX21 (F178A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FAM178A

Gene names

Name:	FAM178A
Synonyms:	C10orf6

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	1173 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Widely expressed. Expressed at higher level in skeletal muscle and at slightly lower level in brain, liver and heart, than in lung, kidney, spleen and thymus. Ref.1
Post-translational modification	Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.4 Ref.5
Miscellaneous	Localized in the locus associated with inherited infantile onset spinocerebellar ataxia (IOSCA). No mutation were found associated with IOSCA compared to control subjects. The expression level in the brain was not different between the 2 populations.
Sequence similarities	Belongs to the FAM178 family.
Sequence caution	The sequence BAA91657.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1173	1173	Protein FAM178A		PRO_0000089778
Regions
	Compositional bias	616 – 619	4	Poly-Glu
Amino acid modifications
	Modified residue	444	1	Phosphoserine Ref.5
	Modified residue	701	1	Phosphoserine Ref.4
	Modified residue	710	1	Phosphoserine Ref.4
	Modified residue	711	1	Phosphothreonine Ref.4
Natural variations
	Natural variant	541	1	S → Y. Ref.1 Corresponds to variant rs10883563 [ dbSNP | Ensembl ].		VAR_023112

Sequences

	Sequence		Length	Mass (Da)
	Q8IX21 [UniParc]. Last modified August 16, 2005. Version 2. Checksum: 0A9FB5662185A633	FASTA	1,173	131,873
	10 20 30 40 50 60 MTRRCMPARP GFPSSPAPGS SPPRCHLRPG STAHAAAGKR TESPGDRKQS IIDFFKPASK 70 80 90 100 110 120 QDRHMLDSPQ KSNIKYGGSR LSITGTEQFE RKLSSPKESK PKRVPPEKSP IIEAFMKGVK 130 140 150 160 170 180 EHHEDHGIHE SRRPCLSLAS KYLAKGTNIY VPSSYHLPKE MKSLKKKHRS PERRKSLFIH 190 200 210 220 230 240 ENNEKNDRDR GKTNADSKKQ TTVAEADIFN NSSRSLSSRS SLSRHHPEES PLGAKFQLSL 250 260 270 280 290 300 ASYCRERELK RLRKEQMEQR INSENSFSEA SSLSLKSSIE RKYKPRQEQR KQNDIIPGKN 310 320 330 340 350 360 NLSNVENGHL SRKRSSSDSW EPTSAGSKQN KFPEKRKRNS VDSDLKSTRE SMIPKARESF 370 380 390 400 410 420 LEKRPDGPHQ KEKFIKHIAL KTPGDVLRLE DISKEPSDET DGSSAGLAPS NSGNSGHHST 430 440 450 460 470 480 RNSDQIQVAG TKETKMQKPH LPLSQEKSAI KKASNLQKNK TASSTTKEKE TKLPLLSRVP 490 500 510 520 530 540 SAGSSLVPLN AKNCALPVSK KDKERSSSKE CSGHSTESTK HKEHKAKTNK ADSNVSSGKI 550 560 570 580 590 600 SGGPLRSEYG TPTKSPPAAL EVVPCIPSPA APSDKAPSEG ESSGNSNAGS SALKRKLRGD 610 620 630 640 650 660 FDSDEESLGY NLDSDEEEET LKSLEEIMAL NFNQTPAATG KPPALSKGLR SQSSDYTGHV 670 680 690 700 710 720 HPGTYTNTLE RLVKEMEDTQ RLDELQKQLQ EDIRQGRGIK SPIRIGEEDS TDDEDGLLEE 730 740 750 760 770 780 HKEFLKKFSV TIDAIPDHHP GEEIFNFLNS GKIFNQYTLD LRDSGFIGQS AVEKLILKSG 790 800 810 820 830 840 KTDQIFLTTQ GFLTSAYHYV QCPVPVLKWL FRMMSVHTDC IVSVQILSTL MEITIRNDTF 850 860 870 880 890 900 SDSPVWPWIP SLSDVAAVFF NMGIDFRSLF PLENLQPDFN EDYLVSETQT TSRGKESEDS 910 920 930 940 950 960 SYKPIFSTLP ETNILNVVKF LGLCTSIHPE GYQDREIMLL ILMLFKMSLE KQLKQIPLVD 970 980 990 1000 1010 1020 FQSLLINLMK NIRDWNTKVP ELCLGINELS SHPHNLLWLV QLVPNWTSRG RQLRQCLSLV 1030 1040 1050 1060 1070 1080 IISKLLDEKH EDVPNASNLQ VSVLHRYLVQ MKPSDLLKKM VLKKKAEQPD GIIDDSLHLE 1090 1100 1110 1120 1130 1140 LEKQAYYLTY ILLHLVGEVS CSHSFSSGQR KHFVLLCGAL EKHVKCDIRE DARLFYRTKV 1150 1160 1170 KDLVARIHGK WQEIIQNCRP TQGQLHDFWV PDS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia." Nikali K., Saharinen J., Peltonen L. Gene 299:111-115(2002) [PubMed: 12459258] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT TYR-541, TISSUE SPECIFICITY. Tissue: Lymphoblast.
[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]. Tissue: Testis.
[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]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-701; SER-710 AND THR-711, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[5]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-444, MASS SPECTROMETRY. Tissue: Embryonic kidney.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF460991 mRNA. Translation: AAN84475.1. AK001374 mRNA. Translation: BAA91657.1. Different initiation. AK292565 mRNA. Translation: BAF85254.1. AL138762, AL133215 Genomic DNA. Translation: CAH70950.1. AL133215, AL138762 Genomic DNA. Translation: CAI10933.1.
IPI	IPI00293188.
RefSeq	NP_001230699.1. NM_001243770.1. NP_060591.3. NM_018121.3.
UniGene	Hs.447458.
3D structure databases
ProteinModelPortal	Q8IX21.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IX21. 4 interactions.
MINT	MINT-7034517.
STRING	Q8IX21.
PTM databases
PhosphoSite	Q8IX21.
Polymorphism databases
DMDM	73620064.
Proteomic databases
PRIDE	Q8IX21.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000238961; ENSP00000238961; ENSG00000119906.
GeneID	55719.
KEGG	hsa:55719.
NMPDR	fig|9606.3.peg.4511.
UCSC	uc001krt.2. human.
Organism-specific databases
CTD	55719.
GeneCards	GC10P102663.
HGNC	HGNC:17814. FAM178A.
HPA	HPA038499.
MIM	610348. gene.
neXtProt	NX_Q8IX21.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000064017.
HOVERGEN	HBG059392.
OrthoDB	EOG4GQQ46.
PhylomeDB	Q8IX21.
Gene expression databases
ArrayExpress	Q8IX21.
Bgee	Q8IX21.
CleanEx	HS_FAM178A.
Genevestigator	Q8IX21.
GermOnline	ENSG00000119906. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	60615.
SOURCE	Search...

Entry information

Entry name

F178A_HUMAN

Accession

Primary (citable) accession number: Q8IX21
Secondary accession number(s): A8K950, Q5W0L8, Q9NPE8

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2005
Last sequence update:	August 16, 2005
Last modified:	January 25, 2012
This is version 62 of the entry and version 2 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.