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Protein

Protein FAM69C

Gene

FAM69C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-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.

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.

Expressioni

Gene expression databases

BgeeiENSG00000187773.
CleanExiHS_C18orf51.
GenevisibleiQ0P6D2. HS.

Organism-specific databases

HPAiHPA048928.

Structurei

3D structure databases

ProteinModelPortaliQ0P6D2.
SMRiQ0P6D2.
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.
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

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: September 27, 2017
This is version 90 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 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families