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Protein

Protein FAM86C1

Gene

FAM86C1

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

Functioni

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Ligandi

S-adenosyl-L-methionine

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM86C1 (EC:2.1.1.-By similarity)
Alternative name(s):
Protein FAM86C
Gene namesi
Name:FAM86C1
Synonyms:FAM86C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:25561. FAM86C1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485461.

Polymorphism and mutation databases

BioMutaiFAM86C1.
DMDMi313104234.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 165165Protein FAM86C1PRO_0000307640Add
BLAST

Proteomic databases

PaxDbiQ9NVL1.
PRIDEiQ9NVL1.

PTM databases

iPTMnetiQ9NVL1.
PhosphoSiteiQ9NVL1.

Expressioni

Gene expression databases

BgeeiQ9NVL1.
CleanExiHS_FAM86C.
ExpressionAtlasiQ9NVL1. baseline and differential.
GenevisibleiQ9NVL1. HS.

Interactioni

Subunit structurei

Interacts with EEF2KMT.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TRAF1Q130773EBI-751617,EBI-359224

Protein-protein interaction databases

BioGridi120496. 3 interactions.
IntActiQ9NVL1. 2 interactions.
MINTiMINT-1473002.
STRINGi9606.ENSP00000352182.

Structurei

3D structure databases

ProteinModelPortaliQ9NVL1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2497. Eukaryota.
ENOG410ZQK4. LUCA.
GeneTreeiENSGT00510000047003.
HOGENOMiHOG000069870.
HOVERGENiHBG102146.
InParanoidiQ9NVL1.
OMAiTESTWRQ.
OrthoDBiEOG74XS7J.
PhylomeDBiQ9NVL1.

Family and domain databases

InterProiIPR029426. FAM86.
[Graphical view]
PfamiPF14904. FAM86. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NVL1-1) [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
MAPEENAGSE LLLQSFKRRF LAARALRSFR WQSLEAKLRD SSDSELLRDI
60 70 80 90 100
LQKHEAVHTE PLDELYEVLV ETLMAKESTQ GHRSYLLTCC IAQKPSCRWS
110 120 130 140 150
GSCGGWLPAG STSGLLNSTW PLPSATQRCA SCSPPSYAGL GSDGKRKLIM
160
TRNCFPTEST WRWQS
Length:165
Mass (Da):18,454
Last modified:November 30, 2010 - v3
Checksum:i19EA49662C5B4B51
GO
Isoform 2 (identifier: Q9NVL1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     54-87: Missing.

Show »
Length:131
Mass (Da):14,533
Checksum:iCDB4749C6D811BC0
GO
Isoform 3 (identifier: Q9NVL1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-87: KHEAVHTEPLDELYEVLVETLMAKESTQGHRSYLL → KTVKHPVCVKHPPSVKYARCFLSELIKK

Show »
Length:158
Mass (Da):17,623
Checksum:i41D6AB51F58F3EFB
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71A → S.1 Publication
Corresponds to variant rs12283300 [ dbSNP | Ensembl ].
VAR_036619
Natural varianti30 – 301R → P.1 Publication
Corresponds to variant rs12283346 [ dbSNP | Ensembl ].
VAR_036620
Natural varianti70 – 701V → A.2 Publications
Corresponds to variant rs3935309 [ dbSNP | Ensembl ].
VAR_036621
Natural varianti135 – 1351P → L.
Corresponds to variant rs57679800 [ dbSNP | Ensembl ].
VAR_062211

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei53 – 8735KHEAV…RSYLL → KTVKHPVCVKHPPSVKYARC FLSELIKK in isoform 3. CuratedVSP_042069Add
BLAST
Alternative sequencei54 – 8734Missing in isoform 2. 1 PublicationVSP_028752Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001523 mRNA. Translation: BAA91739.1.
AP002495 Genomic DNA. No translation available.
BC032519 mRNA. Translation: AAH32519.1.
CCDSiCCDS41686.1. [Q9NVL1-1]
CCDS44664.1. [Q9NVL1-3]
CCDS8202.1. [Q9NVL1-2]
RefSeqiNP_001093123.1. NM_001099653.1. [Q9NVL1-3]
NP_060642.2. NM_018172.2. [Q9NVL1-1]
NP_689776.1. NM_152563.2. [Q9NVL1-2]
UniGeneiHs.567527.

Genome annotation databases

EnsembliENST00000346333; ENSP00000325662; ENSG00000158483. [Q9NVL1-2]
ENST00000359244; ENSP00000352182; ENSG00000158483. [Q9NVL1-1]
ENST00000426628; ENSP00000391329; ENSG00000158483. [Q9NVL1-3]
GeneIDi55199.
KEGGihsa:55199.
UCSCiuc001oqv.5. human. [Q9NVL1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001523 mRNA. Translation: BAA91739.1.
AP002495 Genomic DNA. No translation available.
BC032519 mRNA. Translation: AAH32519.1.
CCDSiCCDS41686.1. [Q9NVL1-1]
CCDS44664.1. [Q9NVL1-3]
CCDS8202.1. [Q9NVL1-2]
RefSeqiNP_001093123.1. NM_001099653.1. [Q9NVL1-3]
NP_060642.2. NM_018172.2. [Q9NVL1-1]
NP_689776.1. NM_152563.2. [Q9NVL1-2]
UniGeneiHs.567527.

3D structure databases

ProteinModelPortaliQ9NVL1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120496. 3 interactions.
IntActiQ9NVL1. 2 interactions.
MINTiMINT-1473002.
STRINGi9606.ENSP00000352182.

PTM databases

iPTMnetiQ9NVL1.
PhosphoSiteiQ9NVL1.

Polymorphism and mutation databases

BioMutaiFAM86C1.
DMDMi313104234.

Proteomic databases

PaxDbiQ9NVL1.
PRIDEiQ9NVL1.

Protocols and materials databases

DNASUi55199.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000346333; ENSP00000325662; ENSG00000158483. [Q9NVL1-2]
ENST00000359244; ENSP00000352182; ENSG00000158483. [Q9NVL1-1]
ENST00000426628; ENSP00000391329; ENSG00000158483. [Q9NVL1-3]
GeneIDi55199.
KEGGihsa:55199.
UCSCiuc001oqv.5. human. [Q9NVL1-1]

Organism-specific databases

CTDi55199.
GeneCardsiFAM86C1.
HGNCiHGNC:25561. FAM86C1.
MIMi616124. gene.
neXtProtiNX_Q9NVL1.
PharmGKBiPA143485461.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2497. Eukaryota.
ENOG410ZQK4. LUCA.
GeneTreeiENSGT00510000047003.
HOGENOMiHOG000069870.
HOVERGENiHBG102146.
InParanoidiQ9NVL1.
OMAiTESTWRQ.
OrthoDBiEOG74XS7J.
PhylomeDBiQ9NVL1.

Miscellaneous databases

GenomeRNAii55199.
NextBioi59078.
PROiQ9NVL1.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NVL1.
CleanExiHS_FAM86C.
ExpressionAtlasiQ9NVL1. baseline and differential.
GenevisibleiQ9NVL1. HS.

Family and domain databases

InterProiIPR029426. FAM86.
[Graphical view]
PfamiPF14904. FAM86. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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] (ISOFORM 1), VARIANTS SER-7; PRO-30 AND ALA-70.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-70.
  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] (ISOFORM 2).
    Tissue: Eye.
  4. "A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity."
    Cloutier P., Lavallee-Adam M., Faubert D., Blanchette M., Coulombe B.
    PLoS Genet. 9:E1003210-E1003210(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH EEF2KMT.

Entry informationi

Entry nameiFA86C_HUMAN
AccessioniPrimary (citable) accession number: Q9NVL1
Secondary accession number(s): Q8N5D3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: November 30, 2010
Last modified: March 16, 2016
This is version 86 of the entry and version 3 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 11
    Human chromosome 11: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.