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Q8N5J2

- FA63A_HUMAN

UniProt

Q8N5J2 - FA63A_HUMAN

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Protein

Protein FAM63A

Gene

FAM63A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM63A
Gene namesi
Name:FAM63A
Synonyms:KIAA1390
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:25648. FAM63A.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671872.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 469469Protein FAM63APRO_0000344037Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei103 – 1031PhosphoserineBy similarity
Modified residuei441 – 4411PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8N5J2.
PaxDbiQ8N5J2.
PRIDEiQ8N5J2.

PTM databases

PhosphoSiteiQ8N5J2.

Expressioni

Gene expression databases

BgeeiQ8N5J2.
CleanExiHS_FAM63A.
GenevestigatoriQ8N5J2.

Organism-specific databases

HPAiHPA028351.
HPA028358.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NAA38O957771EBI-372322,EBI-347779

Protein-protein interaction databases

BioGridi120906. 5 interactions.
IntActiQ8N5J2. 2 interactions.
STRINGi9606.ENSP00000354814.

Structurei

3D structure databases

ProteinModelPortaliQ8N5J2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi386 – 43146Gln-richAdd
BLAST

Sequence similaritiesi

Belongs to the FAM63 family.Curated

Phylogenomic databases

eggNOGiNOG307988.
GeneTreeiENSGT00390000016607.
HOVERGENiHBG054318.
InParanoidiQ8N5J2.
OMAiVIPENHE.
OrthoDBiEOG7Q5HD8.
PhylomeDBiQ8N5J2.
TreeFamiTF314589.

Family and domain databases

InterProiIPR007518. DUF544.
[Graphical view]
PANTHERiPTHR18063. PTHR18063. 1 hit.
PfamiPF04424. DUF544. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N5J2-1) [UniParc]FASTAAdd to Basket

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
MEYHQPEDPA PGKAGTAEAV IPENHEVLAG PDEHPQDTDA RDADGEARER
60 70 80 90 100
EPADQALLPS QCGDNLESPL PEASSAPPGP TLGTLPEVET IRACSMPQEL
110 120 130 140 150
PQSPRTRQPE PDFYCVKWIP WKGEQTPIIT QSTNGPCPLL AIMNILFLQW
160 170 180 190 200
KVKLPPQKEV ITSDELMAHL GNCLLSIKPQ EKSEGLQLNF QQNVDDAMTV
210 220 230 240 250
LPKLATGLDV NVRFTGVSDF EYTPECSVFD LLGIPLYHGW LVDPQSPEAV
260 270 280 290 300
RAVGKLSYNQ LVERIITCKH SSDTNLVTEG LIAEQFLETT AAQLTYHGLC
310 320 330 340 350
ELTAAAKEGE LSVFFRNNHF STMTKHKSHL YLLVTDQGFL QEEQVVWESL
360 370 380 390 400
HNVDGDSCFC DSDFHLSHSL GKGPGAEGGS GSPETQLQVD QDYLIALSLQ
410 420 430 440 450
QQQPRGPLGL TDLELAQQLQ QEEYQQQQAA QPVRMRTRVL SLQGRGATSG
460
RPAGERRQRP KHESDCILL
Length:469
Mass (Da):51,778
Last modified:November 2, 2010 - v2
Checksum:iFEB658BAF8A878C6
GO
Isoform 2 (identifier: Q8N5J2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-142: Missing.

Show »
Length:327
Mass (Da):36,458
Checksum:iA0B153B6B2217B7A
GO
Isoform 3 (identifier: Q8N5J2-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLLGPPPFNESTKPSPSPCHSFASQAWLRQVPEVSKHLQCPSAKSLLTM

Show »
Length:517
Mass (Da):56,991
Checksum:i6BBA4F7A62BF16FD
GO
Isoform 4 (identifier: Q8N5J2-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:374
Mass (Da):41,833
Checksum:i49C3DA92F5491B1A
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti287 – 2871L → P in BAA92104. (PubMed:14702039)Curated
Sequence conflicti367 – 3671S → R in BAA92104. (PubMed:14702039)Curated
Isoform 3 (identifier: Q8N5J2-3)
Sequence conflicti44 – 441K → E in BAG63364. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti385 – 3851T → K.4 Publications
Corresponds to variant rs2925741 [ dbSNP | Ensembl ].
VAR_044541

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 142142Missing in isoform 2. 1 PublicationVSP_034715Add
BLAST
Alternative sequencei1 – 9595Missing in isoform 4. 1 PublicationVSP_037076Add
BLAST
Alternative sequencei1 – 11M → MLLGPPPFNESTKPSPSPCH SFASQAWLRQVPEVSKHLQC PSAKSLLTM in isoform 3. 1 PublicationVSP_037077

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS30854.1. [Q8N5J2-2]
CCDS53361.1. [Q8N5J2-3]
CCDS55635.1. [Q8N5J2-4]
CCDS976.1. [Q8N5J2-1]
RefSeqiNP_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]
UniGeneiHs.743952.

Genome annotation databases

EnsembliENST00000312210; ENSP00000310923; ENSG00000143409. [Q8N5J2-2]
ENST00000361738; ENSP00000354669; ENSG00000143409. [Q8N5J2-3]
ENST00000361936; ENSP00000354814; ENSG00000143409. [Q8N5J2-1]
ENST00000493834; ENSP00000437174; ENSG00000143409. [Q8N5J2-4]
ENST00000622754; ENSP00000481304; ENSG00000143409. [Q8N5J2-1]
GeneIDi55793.
KEGGihsa:55793.
UCSCiuc001ewf.3. human. [Q8N5J2-1]

Polymorphism databases

DMDMi311033379.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS30854.1. [Q8N5J2-2 ]
CCDS53361.1. [Q8N5J2-3 ]
CCDS55635.1. [Q8N5J2-4 ]
CCDS976.1. [Q8N5J2-1 ]
RefSeqi NP_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 ]
UniGenei Hs.743952.

3D structure databases

ProteinModelPortali Q8N5J2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120906. 5 interactions.
IntActi Q8N5J2. 2 interactions.
STRINGi 9606.ENSP00000354814.

PTM databases

PhosphoSitei Q8N5J2.

Polymorphism databases

DMDMi 311033379.

Proteomic databases

MaxQBi Q8N5J2.
PaxDbi Q8N5J2.
PRIDEi Q8N5J2.

Protocols and materials databases

DNASUi 55793.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000312210 ; ENSP00000310923 ; ENSG00000143409 . [Q8N5J2-2 ]
ENST00000361738 ; ENSP00000354669 ; ENSG00000143409 . [Q8N5J2-3 ]
ENST00000361936 ; ENSP00000354814 ; ENSG00000143409 . [Q8N5J2-1 ]
ENST00000493834 ; ENSP00000437174 ; ENSG00000143409 . [Q8N5J2-4 ]
ENST00000622754 ; ENSP00000481304 ; ENSG00000143409 . [Q8N5J2-1 ]
GeneIDi 55793.
KEGGi hsa:55793.
UCSCi uc001ewf.3. human. [Q8N5J2-1 ]

Organism-specific databases

CTDi 55793.
GeneCardsi GC01M150965.
H-InvDB HIX0001041.
HGNCi HGNC:25648. FAM63A.
HPAi HPA028351.
HPA028358.
neXtProti NX_Q8N5J2.
PharmGKBi PA142671872.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG307988.
GeneTreei ENSGT00390000016607.
HOVERGENi HBG054318.
InParanoidi Q8N5J2.
OMAi VIPENHE.
OrthoDBi EOG7Q5HD8.
PhylomeDBi Q8N5J2.
TreeFami TF314589.

Miscellaneous databases

ChiTaRSi FAM63A. human.
GenomeRNAii 55793.
NextBioi 35535065.
PROi Q8N5J2.

Gene expression databases

Bgeei Q8N5J2.
CleanExi HS_FAM63A.
Genevestigatori Q8N5J2.

Family and domain databases

InterProi IPR007518. DUF544.
[Graphical view ]
PANTHERi PTHR18063. PTHR18063. 1 hit.
Pfami PF04424. DUF544. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.
    , 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.
    , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiFA63A_HUMAN
AccessioniPrimary (citable) accession number: Q8N5J2
Secondary accession number(s): B3KWP4
, B3KWV8, B4DXF2, B4E1S4, D3DV09, J3KP53, Q5SZF0, Q9NUL9, Q9P2F7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: November 2, 2010
Last modified: October 29, 2014
This is version 92 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3