Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein FAM69C

Gene

FAM69C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM69C
Gene namesi
Name:FAM69C
Synonyms:C18orf51
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000187773.8
HGNCiHGNC:31729 FAM69C
MIMi614544 gene
neXtProtiNX_Q0P6D2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Topological domaini44 – 419LumenalSequence analysisAdd BLAST376

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi125704
OpenTargetsiENSG00000187773
PharmGKBiPA165428999

Polymorphism and mutation databases

BioMutaiFAM69C
DMDMi296439351

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002867071 – 419Protein FAM69CAdd BLAST419

Post-translational modificationi

Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds.By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ0P6D2
PeptideAtlasiQ0P6D2
PRIDEiQ0P6D2
ProteomicsDBi58776
58777 [Q0P6D2-2]

Expressioni

Gene expression databases

BgeeiENSG00000187773 Expressed in 93 organ(s), highest expression level in putamen
CleanExiHS_C18orf51
GenevisibleiQ0P6D2 HS

Organism-specific databases

HPAiHPA048928

Structurei

3D structure databases

ProteinModelPortaliQ0P6D2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi16 – 17May mediate ER retentionBy similarity2

Sequence similaritiesi

Belongs to the FAM69 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IH7Q Eukaryota
ENOG410ZZZ5 LUCA
GeneTreeiENSGT00730000111308
HOGENOMiHOG000111953
HOVERGENiHBG094879
InParanoidiQ0P6D2
OMAiHIILAYN
OrthoDBiEOG091G06T4
PhylomeDBiQ0P6D2
TreeFamiTF313319

Family and domain databases

InterProiView protein in InterPro
IPR022049 FAM69_kinase_dom
IPR029244 FAM69_N
IPR011009 Kinase-like_dom_sf
PfamiView protein in Pfam
PF12260 PIP49_C, 1 hit
PF14875 PIP49_N, 1 hit
SMARTiView protein in SMART
SM01299 PIP49_N, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q0P6D2-1) [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
MARAAGARGP AGWCRRRGRC GRGTLLAFAA WTAGWVLAAA LLLRAHPGVL
60 70 80 90 100
SERCTDEKSR RILAALCQDY QGGTLAGDLC EDLCVAGELL FQRCLHYNRG
110 120 130 140 150
KKVLQADWRG RPVVLKSKEE AFSSFPPLSL LEEEAGEGGQ DMPEAELLLM
160 170 180 190 200
VAGEVKSALG LELSNSSLGP WWPGRRGPRW RGQLASLWAL LQQEEYVYFS
210 220 230 240 250
LLQDLSPHVL PVLGSCGHFY AVEFLAAGSP HHRALFPLDR APGAPGGGQA
260 270 280 290 300
KAISDIALSF LDMVNHFDSD FSHRLHLCDI KPENFAIRSD FTVVAIDVDM
310 320 330 340 350
AFFEPKMREI LEQNCTGDED CNFFDCFSRC DLRVNKCGAQ RVNNNLQVIC
360 370 380 390 400
DKIFRHWFSA PLKSSAVSFQ LQLQLQEAVQ ECADPGVPSG NTRRAASSVF
410
WKLRQLLQAT LRELQEAEK
Length:419
Mass (Da):46,420
Last modified:May 18, 2010 - v3
Checksum:i320959B6D70EA7DF
GO
Isoform 2 (identifier: Q0P6D2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-299: Missing.

Show »
Length:120
Mass (Da):13,791
Checksum:i7723C3C9CAA09489
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0251461 – 299Missing in isoform 2. 1 PublicationAdd BLAST299

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009704 Genomic DNA No translation available.
BC019628 mRNA Translation: AAH19628.1
CCDSiCCDS42445.2 [Q0P6D2-1]
RefSeqiNP_001037834.2, NM_001044369.2 [Q0P6D2-1]
UniGeneiHs.371690

Genome annotation databases

EnsembliENST00000343998; ENSP00000344331; ENSG00000187773 [Q0P6D2-1]
ENST00000400291; ENSP00000383148; ENSG00000187773 [Q0P6D2-2]
GeneIDi125704
KEGGihsa:125704
UCSCiuc002llk.4 human [Q0P6D2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009704 Genomic DNA No translation available.
BC019628 mRNA Translation: AAH19628.1
CCDSiCCDS42445.2 [Q0P6D2-1]
RefSeqiNP_001037834.2, NM_001044369.2 [Q0P6D2-1]
UniGeneiHs.371690

3D structure databases

ProteinModelPortaliQ0P6D2
ModBaseiSearch...
MobiDBiSearch...

Polymorphism and mutation databases

BioMutaiFAM69C
DMDMi296439351

Proteomic databases

PaxDbiQ0P6D2
PeptideAtlasiQ0P6D2
PRIDEiQ0P6D2
ProteomicsDBi58776
58777 [Q0P6D2-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343998; ENSP00000344331; ENSG00000187773 [Q0P6D2-1]
ENST00000400291; ENSP00000383148; ENSG00000187773 [Q0P6D2-2]
GeneIDi125704
KEGGihsa:125704
UCSCiuc002llk.4 human [Q0P6D2-1]

Organism-specific databases

CTDi125704
DisGeNETi125704
EuPathDBiHostDB:ENSG00000187773.8
GeneCardsiFAM69C
HGNCiHGNC:31729 FAM69C
HPAiHPA048928
MIMi614544 gene
neXtProtiNX_Q0P6D2
OpenTargetsiENSG00000187773
PharmGKBiPA165428999
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH7Q Eukaryota
ENOG410ZZZ5 LUCA
GeneTreeiENSGT00730000111308
HOGENOMiHOG000111953
HOVERGENiHBG094879
InParanoidiQ0P6D2
OMAiHIILAYN
OrthoDBiEOG091G06T4
PhylomeDBiQ0P6D2
TreeFamiTF313319

Miscellaneous databases

GenomeRNAii125704
PROiPR:Q0P6D2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187773 Expressed in 93 organ(s), highest expression level in putamen
CleanExiHS_C18orf51
GenevisibleiQ0P6D2 HS

Family and domain databases

InterProiView protein in InterPro
IPR022049 FAM69_kinase_dom
IPR029244 FAM69_N
IPR011009 Kinase-like_dom_sf
PfamiView protein in Pfam
PF12260 PIP49_C, 1 hit
PF14875 PIP49_N, 1 hit
SMARTiView protein in SMART
SM01299 PIP49_N, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFA69C_HUMAN
AccessioniPrimary (citable) accession number: Q0P6D2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 18, 2010
Last modified: October 10, 2018
This is version 94 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again