Q0P6D2 (FA69C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FAM69C

Gene names

Name:	FAM69C
Synonyms:	C18orf51

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	419 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Endoplasmic reticulum membrane; Single-pass type II membrane protein By similarity.
Post-translational modification	Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds By similarity.
Sequence similarities	Belongs to the FAM69 family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing
Domain	Signal-anchor Transmembrane Transmembrane helix
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q0P6D2-1)

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.

Isoform 2 (identifier: Q0P6D2-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 419	419	Protein FAM69C		PRO_0000286707
Regions
	Topological domain	1 – 22	22	Cytoplasmic Potential
	Transmembrane	23 – 43	21	Helical; Potential
	Topological domain	44 – 419	376	Lumenal Potential
	Motif	16 – 17	2	May mediate ER retention By similarity
Natural variations
	Alternative sequence	1 – 299	299	Missing in isoform 2.		VSP_025146

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 320959B6D70EA7DF	FASTA	419	46,420
	10 20 30 40 50 60 MARAAGARGP AGWCRRRGRC GRGTLLAFAA WTAGWVLAAA LLLRAHPGVL SERCTDEKSR 70 80 90 100 110 120 RILAALCQDY QGGTLAGDLC EDLCVAGELL FQRCLHYNRG KKVLQADWRG RPVVLKSKEE 130 140 150 160 170 180 AFSSFPPLSL LEEEAGEGGQ DMPEAELLLM VAGEVKSALG LELSNSSLGP WWPGRRGPRW 190 200 210 220 230 240 RGQLASLWAL LQQEEYVYFS LLQDLSPHVL PVLGSCGHFY AVEFLAAGSP HHRALFPLDR 250 260 270 280 290 300 APGAPGGGQA KAISDIALSF LDMVNHFDSD FSHRLHLCDI KPENFAIRSD FTVVAIDVDM 310 320 330 340 350 360 AFFEPKMREI LEQNCTGDED CNFFDCFSRC DLRVNKCGAQ RVNNNLQVIC DKIFRHWFSA 370 380 390 400 410 PLKSSAVSFQ LQLQLQEAVQ ECADPGVPSG NTRRAASSVF WKLRQLLQAT LRELQEAEK
	Isoform 2 [UniParc]. Checksum: 7723C3C9CAA09489	FASTA	120	13,791
	10 20 30 40 50 60 MAFFEPKMRE ILEQNCTGDE DCNFFDCFSR CDLRVNKCGA QRVNNNLQVI CDKIFRHWFS 70 80 90 100 110 120 APLKSSAVSF QLQLQLQEAV QECADPGVPS GNTRRAASSV FWKLRQLLQA TLRELQEAEK

References

[1]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract] 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC009704 Genomic DNA. No translation available. BC019628 mRNA. Translation: AAH19628.1.
IPI	IPI00845367. IPI00926509.
RefSeq	NP_001037834.2. NM_001044369.2.
UniGene	Hs.371690.
3D structure databases
ProteinModelPortal	Q0P6D2.
SMR	Q0P6D2. Positions 194-301.
ModBase	Search...
Polymorphism databases
DMDM	296439351.
Proteomic databases
PaxDb	Q0P6D2.
PRIDE	Q0P6D2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000343998; ENSP00000344331; ENSG00000187773. ENST00000400291; ENSP00000383148; ENSG00000187773.
GeneID	125704.
KEGG	hsa:125704.
UCSC	uc002llk.3. human.
Organism-specific databases
CTD	125704.
GeneCards	GC18M072102.
HGNC	HGNC:31729. FAM69C.
HPA	HPA048928.
MIM	614544. gene.
neXtProt	NX_Q0P6D2.
PharmGKB	PA165428999.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG71854.
HOGENOM	HOG000111953.
HOVERGEN	HBG094879.
InParanoid	Q0P6D2.
OMA	CEDLCVA.
OrthoDB	EOG4KKZ3W.
Gene expression databases
Bgee	Q0P6D2.
CleanEx	HS_C18orf51.
Genevestigator	Q0P6D2.
Family and domain databases
InterPro	IPR022049. Uncharacterised_FAM69. [Graphical view]
Pfam	PF12260. PIP49_C. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	125704.
NextBio	81548.
SOURCE	Search...

Entry information

Entry name

FA69C_HUMAN

Accession

Primary (citable) accession number: Q0P6D2

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 58 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.