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Q2M2I3 (FA83E_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 56. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein FAM83E
Gene names
Name:FAM83E
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length478 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Belongs to the FAM83 family.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 478478Protein FAM83E
PRO_0000314929

Natural variations

Natural variant911T → A. Ref.1 Ref.3
Corresponds to variant rs447802 [ dbSNP | Ensembl ].
VAR_038130
Natural variant3111P → L. Ref.1
Corresponds to variant rs3745728 [ dbSNP | Ensembl ].
VAR_038131
Natural variant3721R → H.
Corresponds to variant rs3745727 [ dbSNP | Ensembl ].
VAR_038132

Experimental info

Sequence conflict51Q → R in BAA91009. Ref.1
Sequence conflict4251P → S in BAA91009. Ref.1
Sequence conflict4631V → I in BAA91009. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q2M2I3 [UniParc].

Last modified November 2, 2010. Version 2.
Checksum: C5C2264196DED361

FASTA47851,780
        10         20         30         40         50         60 
MAASQLAALE GVDSGPRVPG ASPGFLYSEG QRLALEALLS KGAEAFQTCV QREELWPFLS 

        70         80         90        100        110        120 
ADEVQGLAAA AEDWTVAKQE PSGMAEGATT TDVDAGSLSY WPGQSEQPAP VLRLGWPVDS 

       130        140        150        160        170        180 
AWKGITRAQL YTQPPGEGQP PLKELVRLEI QAAHKLVAVV MDVFTDPDLL LDLVDAATRR 

       190        200        210        220        230        240 
WVPVYLLLDR QQLPAFLELA QQLGVNPWNT ENVDVRVVRG CSFQSRWRRQ VSGTVREKFV 

       250        260        270        280        290        300 
LLDGERVISG SYSFTWSDAR LHRGLVTLLT GEIVDAFSLE FRTLYAASCP LPPAPPQKPS 

       310        320        330        340        350        360 
VIGGLQRGRS PHRVSRRRSV APASPPPPDG PLAHRLAACR VSPATPGPAL SDILRSVQRA 

       370        380        390        400        410        420 
RTPSGPPARP SRSMWDLSRL SQLSGSSDGD NELKKSWGSK DTPAKALMRQ RGTGGGPWGE 

       430        440        450        460        470 
VDSRPPWGGA LPLPPAHRLR YLSPARRRFG GDATFKLQEP RGVRPSDWAP RAGLGGQP 

« Hide

References

[1]"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], VARIANTS ALA-91 AND LEU-311.
Tissue: Colon mucosa.
[2]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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], VARIANT ALA-91.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK000207 mRNA. Translation: BAA91009.1.
AC008403 Genomic DNA. No translation available.
AC022154 Genomic DNA. No translation available.
BC111970 mRNA. Translation: AAI11971.1.
BC111972 mRNA. Translation: AAI11973.1.
RefSeqNP_060178.2. NM_017708.3.
XP_005259076.1. XM_005259019.1.
UniGeneHs.165803.

3D structure databases

ProteinModelPortalQ2M2I3.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ2M2I3.

Polymorphism databases

DMDM311033380.

Proteomic databases

PaxDbQ2M2I3.
PRIDEQ2M2I3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263266; ENSP00000263266; ENSG00000105523.
GeneID54854.
KEGGhsa:54854.
UCSCuc002pjn.2. human.

Organism-specific databases

CTD54854.
GeneCardsGC19M049103.
HGNCHGNC:25972. FAM83E.
HPAHPA049305.
neXtProtNX_Q2M2I3.
PharmGKBPA142671852.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG16596.
HOGENOMHOG000015330.
HOVERGENHBG107906.
InParanoidQ2M2I3.
OMADGDNELK.
OrthoDBEOG7MKW7B.
PhylomeDBQ2M2I3.
TreeFamTF330777.

Gene expression databases

ArrayExpressQ2M2I3.
BgeeQ2M2I3.
CleanExHS_FAM83E.
GenevestigatorQ2M2I3.

Family and domain databases

InterProIPR012461. DUF1669.
[Graphical view]
PANTHERPTHR16181. PTHR16181. 1 hit.
PfamPF07894. DUF1669. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi54854.
NextBio57714.
PROQ2M2I3.

Entry information

Entry nameFA83E_HUMAN
AccessionPrimary (citable) accession number: Q2M2I3
Secondary accession number(s): Q9NXK1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 2, 2010
Last modified: February 19, 2014
This is version 56 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 19

Human chromosome 19: entries, gene names and cross-references to MIM