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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

Functioni

GO - Molecular functioni

  1. transferase activity, transferring phosphorus-containing groups Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM69C
Gene namesi
Name:FAM69C
Synonyms:C18orf51
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:31729. FAM69C.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2222CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei23 – 4321HelicalSequence AnalysisAdd
BLAST
Topological domaini44 – 419376LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165428999.

Polymorphism and mutation databases

BioMutaiFAM69C.
DMDMi296439351.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 419419Protein FAM69CPRO_0000286707Add
BLAST

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.
PRIDEiQ0P6D2.

Expressioni

Gene expression databases

BgeeiQ0P6D2.
CleanExiHS_C18orf51.
GenevestigatoriQ0P6D2.

Organism-specific databases

HPAiHPA048928.

Structurei

3D structure databases

ProteinModelPortaliQ0P6D2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi16 – 172May mediate ER retentionBy similarity

Sequence similaritiesi

Belongs to the FAM69 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG71854.
GeneTreeiENSGT00730000111308.
HOGENOMiHOG000111953.
HOVERGENiHBG094879.
InParanoidiQ0P6D2.
OMAiCEDLCVA.
OrthoDBiEOG779NZ7.
PhylomeDBiQ0P6D2.
TreeFamiTF313319.

Family and domain databases

InterProiIPR022049. FAM69_kinase_dom.
IPR029244. FAM69_N.
IPR011009. Kinase-like_dom.
[Graphical view]
PfamiPF12260. PIP49_C. 1 hit.
PF14875. PIP49_N. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 299299Missing in isoform 2. 1 PublicationVSP_025146Add
BLAST

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.3. human. [Q0P6D2-1]

Polymorphism and mutation databases

BioMutaiFAM69C.

Keywords - Coding sequence diversityi

Alternative splicing

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.
PRIDEiQ0P6D2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343998; ENSP00000344331; ENSG00000187773. [Q0P6D2-1]
ENST00000400291; ENSP00000383148; ENSG00000187773. [Q0P6D2-2]
GeneIDi125704.
KEGGihsa:125704.
UCSCiuc002llk.3. human. [Q0P6D2-1]

Organism-specific databases

CTDi125704.
GeneCardsiGC18M072102.
HGNCiHGNC:31729. FAM69C.
HPAiHPA048928.
MIMi614544. gene.
neXtProtiNX_Q0P6D2.
PharmGKBiPA165428999.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG71854.
GeneTreeiENSGT00730000111308.
HOGENOMiHOG000111953.
HOVERGENiHBG094879.
InParanoidiQ0P6D2.
OMAiCEDLCVA.
OrthoDBiEOG779NZ7.
PhylomeDBiQ0P6D2.
TreeFamiTF313319.

Miscellaneous databases

GenomeRNAii125704.
NextBioi81548.
PROiQ0P6D2.
SOURCEiSearch...

Gene expression databases

BgeeiQ0P6D2.
CleanExiHS_C18orf51.
GenevestigatoriQ0P6D2.

Family and domain databases

InterProiIPR022049. FAM69_kinase_dom.
IPR029244. FAM69_N.
IPR011009. Kinase-like_dom.
[Graphical view]
PfamiPF12260. PIP49_C. 1 hit.
PF14875. PIP49_N. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
ProtoNetiSearch...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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: Testis.

Entry informationi

Entry nameiFA69C_HUMAN
AccessioniPrimary (citable) accession number: Q0P6D2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 18, 2010
Last modified: April 29, 2015
This is version 73 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 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

External Data

Dasty 3

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 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.