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Protein

Protein FAM86C1

Gene

FAM86C1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

Keywordsi

Molecular functionMethyltransferase, Transferase
LigandS-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

EuPathDBiHostDB:ENSG00000158483.15.
HGNCiHGNC:25561. FAM86C1.

Subcellular locationi

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000158483.
PharmGKBiPA143485461.

Polymorphism and mutation databases

BioMutaiFAM86C1.
DMDMi313104234.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003076401 – 165Protein FAM86C1Add BLAST165

Proteomic databases

PaxDbiQ9NVL1.
PeptideAtlasiQ9NVL1.
PRIDEiQ9NVL1.

PTM databases

iPTMnetiQ9NVL1.
PhosphoSitePlusiQ9NVL1.

Expressioni

Gene expression databases

BgeeiENSG00000158483.
CleanExiHS_FAM86C.
ExpressionAtlasiQ9NVL1. baseline and differential.
GenevisibleiQ9NVL1. HS.

Interactioni

Subunit structurei

Interacts with EEF2KMT.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi120496. 15 interactors.
IntActiQ9NVL1. 18 interactors.
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.
OrthoDBiEOG091G0E1D.
PhylomeDBiQ9NVL1.

Family and domain databases

InterProiView protein in InterPro
IPR029426. FAM86.
PfamiView protein in Pfam
PF14904. FAM86. 1 hit.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0366197A → S1 PublicationCorresponds to variant dbSNP:rs12283300Ensembl.1
Natural variantiVAR_03662030R → P1 PublicationCorresponds to variant dbSNP:rs12283346Ensembl.1
Natural variantiVAR_03662170V → A2 PublicationsCorresponds to variant dbSNP:rs3935309Ensembl.1
Natural variantiVAR_062211135P → L. Corresponds to variant dbSNP:rs57679800Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04206953 – 87KHEAV…RSYLL → KTVKHPVCVKHPPSVKYARC FLSELIKK in isoform 3. CuratedAdd BLAST35
Alternative sequenceiVSP_02875254 – 87Missing in isoform 2. 1 PublicationAdd BLAST34

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

Similar proteinsi

Entry informationi

Entry nameiFA86C_HUMAN
AccessioniPrimary (citable) accession number: Q9NVL1
Secondary accession number(s): Q8N5D3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: November 30, 2010
Last modified: September 27, 2017
This is version 96 of the entry and version 3 of the sequence. See 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