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Q8N5J2 (FA63A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein FAM63A
Gene names
Name:FAM63A
Synonyms:KIAA1390
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length469 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Belongs to the FAM63 family.

Sequence caution

The sequence BAA92628.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NAA38O957771EBI-372322,EBI-347779

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N5J2-1)

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: Q8N5J2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-142: Missing.
Isoform 3 (identifier: Q8N5J2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLLGPPPFNESTKPSPSPCHSFASQAWLRQVPEVSKHLQCPSAKSLLTM
Isoform 4 (identifier: Q8N5J2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 469469Protein FAM63A
PRO_0000344037

Regions

Compositional bias386 – 43146Gln-rich

Amino acid modifications

Modified residue1031Phosphoserine By similarity
Modified residue4411Phosphoserine By similarity

Natural variations

Alternative sequence1 – 142142Missing in isoform 2.
VSP_034715
Alternative sequence1 – 9595Missing in isoform 4.
VSP_037076
Alternative sequence11M → MLLGPPPFNESTKPSPSPCH SFASQAWLRQVPEVSKHLQC PSAKSLLTM in isoform 3.
VSP_037077
Natural variant3851T → K. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs2925741 [ dbSNP | Ensembl ].
VAR_044541

Experimental info

Sequence conflict2871L → P in BAA92104. Ref.2
Sequence conflict3671S → R in BAA92104. Ref.2
Isoform 3:
Sequence conflict441K → E in BAG63364. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 2.
Checksum: FEB658BAF8A878C6

FASTA46951,778
        10         20         30         40         50         60 
MEYHQPEDPA PGKAGTAEAV IPENHEVLAG PDEHPQDTDA RDADGEARER EPADQALLPS 

        70         80         90        100        110        120 
QCGDNLESPL PEASSAPPGP TLGTLPEVET IRACSMPQEL PQSPRTRQPE PDFYCVKWIP 

       130        140        150        160        170        180 
WKGEQTPIIT QSTNGPCPLL AIMNILFLQW KVKLPPQKEV ITSDELMAHL GNCLLSIKPQ 

       190        200        210        220        230        240 
EKSEGLQLNF QQNVDDAMTV LPKLATGLDV NVRFTGVSDF EYTPECSVFD LLGIPLYHGW 

       250        260        270        280        290        300 
LVDPQSPEAV RAVGKLSYNQ LVERIITCKH SSDTNLVTEG LIAEQFLETT AAQLTYHGLC 

       310        320        330        340        350        360 
ELTAAAKEGE LSVFFRNNHF STMTKHKSHL YLLVTDQGFL QEEQVVWESL HNVDGDSCFC 

       370        380        390        400        410        420 
DSDFHLSHSL GKGPGAEGGS GSPETQLQVD QDYLIALSLQ QQQPRGPLGL TDLELAQQLQ 

       430        440        450        460 
QEEYQQQQAA QPVRMRTRVL SLQGRGATSG RPAGERRQRP KHESDCILL 

« Hide

Isoform 2 [UniParc].

Checksum: A0B153B6B2217B7A
Show »

FASTA32736,458
Isoform 3 [UniParc].

Checksum: 6BBA4F7A62BF16FD
Show »

FASTA51756,991
Isoform 4 [UniParc].

Checksum: 49C3DA92F5491B1A
Show »

FASTA37441,833

References

[1]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LYS-385.
Tissue: Brain.
[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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 4), VARIANT LYS-385.
Tissue: Placenta, Testis and Trachea.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LYS-385.
[5]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LYS-385.
Tissue: Brain.
[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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB037811 mRNA. Translation: BAA92628.1. Different initiation.
AK002142 mRNA. Translation: BAA92104.1.
AK125493 mRNA. Translation: BAG54206.1.
AK125959 mRNA. Translation: BAG54270.1.
AK301946 mRNA. Translation: BAG63364.1.
AK303962 mRNA. Translation: BAG64886.1.
AL590133 Genomic DNA. Translation: CAI13336.1.
CH471121 Genomic DNA. Translation: EAW53491.1.
CH471121 Genomic DNA. Translation: EAW53492.1.
CH471121 Genomic DNA. Translation: EAW53493.1.
CH471121 Genomic DNA. Translation: EAW53495.1.
BC032321 mRNA. Translation: AAH32321.1.
CCDSCCDS30854.1. [Q8N5J2-2]
CCDS53361.1. [Q8N5J2-3]
CCDS55635.1. [Q8N5J2-4]
CCDS976.1. [Q8N5J2-1]
RefSeqNP_001035307.1. NM_001040217.2.
NP_001156730.1. NM_001163258.1.
NP_001156731.1. NM_001163259.1.
NP_001156732.1. NM_001163260.1.
NP_060849.2. NM_018379.4.
XP_005245380.1. XM_005245323.1. [Q8N5J2-1]
XP_006711511.1. XM_006711448.1. [Q8N5J2-3]
UniGeneHs.743952.

3D structure databases

ProteinModelPortalQ8N5J2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120906. 2 interactions.
IntActQ8N5J2. 2 interactions.
STRING9606.ENSP00000354814.

PTM databases

PhosphoSiteQ8N5J2.

Polymorphism databases

DMDM311033379.

Proteomic databases

MaxQBQ8N5J2.
PaxDbQ8N5J2.
PRIDEQ8N5J2.

Protocols and materials databases

DNASU55793.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312210; ENSP00000310923; ENSG00000143409. [Q8N5J2-2]
ENST00000361738; ENSP00000354669; ENSG00000143409. [Q8N5J2-3]
ENST00000361936; ENSP00000354814; ENSG00000143409. [Q8N5J2-1]
ENST00000493834; ENSP00000437174; ENSG00000143409. [Q8N5J2-4]
GeneID55793.
KEGGhsa:55793.
UCSCuc001ewf.3. human. [Q8N5J2-1]

Organism-specific databases

CTD55793.
GeneCardsGC01M150965.
H-InvDBHIX0001041.
HGNCHGNC:25648. FAM63A.
HPAHPA028351.
HPA028358.
neXtProtNX_Q8N5J2.
PharmGKBPA142671872.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG307988.
HOVERGENHBG054318.
InParanoidQ8N5J2.
OMAVIPENHE.
OrthoDBEOG7Q5HD8.
PhylomeDBQ8N5J2.
TreeFamTF314589.

Gene expression databases

ArrayExpressQ8N5J2.
BgeeQ8N5J2.
CleanExHS_FAM63A.
GenevestigatorQ8N5J2.

Family and domain databases

InterProIPR007518. DUF544.
[Graphical view]
PANTHERPTHR18063. PTHR18063. 1 hit.
PfamPF04424. DUF544. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFAM63A. human.
GenomeRNAi55793.
NextBio35535065.
PROQ8N5J2.

Entry information

Entry nameFA63A_HUMAN
AccessionPrimary (citable) accession number: Q8N5J2
Secondary accession number(s): B3KWP4 expand/collapse secondary AC list , B3KWV8, B4DXF2, B4E1S4, D3DV09, J3KP53, Q5SZF0, Q9NUL9, Q9P2F7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 89 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM