Reviewed, UniProtKB/Swiss-Prot O15165 (CR001_HUMAN)

Names and origin

Protein names

Recommended name:
    Uncharacterized protein C18orf1

Gene names

Name:

C18orf1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	306 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Subcellular location	Cell membrane; Single-pass membrane protein Potential.
Sequence similarities	Belongs to the PMEPA1 family. Contains 1 LDL-receptor class A domain.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane
PTM	Disulfide bond
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	integral to membrane Ref.1 Non-traceable author statement. Source: UniProtKB plasma membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform Alpha-1 (identifier: O15165-1)

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 Alpha-2 (identifier: O15165-2)

The sequence of this isoform differs from the canonical sequence as follows:
     113-130: Missing.

Isoform Beta-1 (identifier: O15165-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: MPEAGFQATNAFTECKFTCTSGKCLYLGSLVCNQQNDCGDNSDEENCLLVTEHPPPGIFNS → MAA

Isoform Beta-2 (identifier: O15165-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: MPEAGFQATNAFTECKFTCTSGKCLYLGSLVCNQQNDCGDNSDEENCLLVTEHPPPGIFNS → MAA
     113-130: Missing.

Isoform 5 (identifier: O15165-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 306	306	Uncharacterized protein C18orf1		PRO_0000185444
Regions
	Topological domain	1 – 64	64	Extracellular Potential
	Transmembrane	65 – 85	21	Potential
	Topological domain	86 – 306	221	Cytoplasmic Potential
	Domain	16 – 48	33	LDL-receptor class A
Amino acid modifications
	Disulfide bond	19 ↔ 38		By similarity
	Disulfide bond	32 ↔ 47		By similarity
Natural variations
	Alternative sequence	1 – 77	77	Missing in isoform 5.		VSP_013901
	Alternative sequence	1 – 61	61	MPEAG…GIFNS → MAA in isoform Beta-1 and isoform Beta-2.		VSP_006439
	Alternative sequence	113 – 130	18	Missing in isoform Alpha-2 and isoform Beta-2.		VSP_006440
Experimental info
	Sequence conflict	125	1	R → Q in AAH66971. Ref.3
	Sequence conflict	135	1	P → T in AAH66971. Ref.3
	Sequence conflict	194	1	P → T in AAH66971. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform Alpha-1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: F48EF66E329201BD	FASTA	306	33,900
	10 20 30 40 50 60 MPEAGFQATN AFTECKFTCT SGKCLYLGSL VCNQQNDCGD NSDEENCLLV TEHPPPGIFN 70 80 90 100 110 120 SELEFAQIII IVVVVTVMVV VIVCLLNHYK VSTRSFINRP NQSRRREDGL PQEGCLWPSD 130 140 150 160 170 180 SAAPRLGASE IMHAPRSRDR FTAPSFIQRD RFSRFQPTYP YVQHEIDLPP TISLSDGEEP 190 200 210 220 230 240 PPYQGPCTLQ LRDPEQQMEL NRESVRAPPN RTIFDSDLID IAMYSGGPCP PSSNSGISAS 250 260 270 280 290 300 TCSSNGRMEG PPPTYSEVMG HHPGASFLHH QRSNAHRGSR LQFQQNNAES TIVPIKGKDR KPGNLV
	Isoform Alpha-2. Checksum: B7DEC603B9C5CA79	FASTA	288	32,072
	10 20 30 40 50 60 MPEAGFQATN AFTECKFTCT SGKCLYLGSL VCNQQNDCGD NSDEENCLLV TEHPPPGIFN 70 80 90 100 110 120 SELEFAQIII IVVVVTVMVV VIVCLLNHYK VSTRSFINRP NQSRRREDGL PQIMHAPRSR 130 140 150 160 170 180 DRFTAPSFIQ RDRFSRFQPT YPYVQHEIDL PPTISLSDGE EPPPYQGPCT LQLRDPEQQM 190 200 210 220 230 240 ELNRESVRAP PNRTIFDSDL IDIAMYSGGP CPPSSNSGIS ASTCSSNGRM EGPPPTYSEV 250 260 270 280 MGHHPGASFL HHQRSNAHRG SRLQFQQNNA ESTIVPIKGK DRKPGNLV
	Isoform Beta-1. Checksum: B88763A5A86C970A	FASTA	248	27,600
	10 20 30 40 50 60 MAAELEFAQI IIIVVVVTVM VVVIVCLLNH YKVSTRSFIN RPNQSRRRED GLPQEGCLWP 70 80 90 100 110 120 SDSAAPRLGA SEIMHAPRSR DRFTAPSFIQ RDRFSRFQPT YPYVQHEIDL PPTISLSDGE 130 140 150 160 170 180 EPPPYQGPCT LQLRDPEQQM ELNRESVRAP PNRTIFDSDL IDIAMYSGGP CPPSSNSGIS 190 200 210 220 230 240 ASTCSSNGRM EGPPPTYSEV MGHHPGASFL HHQRSNAHRG SRLQFQQNNA ESTIVPIKGK DRKPGNLV
	Isoform Beta-2. Checksum: 4EA79478440BC7C0	FASTA	230	25,772
	10 20 30 40 50 60 MAAELEFAQI IIIVVVVTVM VVVIVCLLNH YKVSTRSFIN RPNQSRRRED GLPQIMHAPR 70 80 90 100 110 120 SRDRFTAPSF IQRDRFSRFQ PTYPYVQHEI DLPPTISLSD GEEPPPYQGP CTLQLRDPEQ 130 140 150 160 170 180 QMELNRESVR APPNRTIFDS DLIDIAMYSG GPCPPSSNSG ISASTCSSNG RMEGPPPTYS 190 200 210 220 230 EVMGHHPGAS FLHHQRSNAH RGSRLQFQQN NAESTIVPIK GKDRKPGNLV
	Isoform 5. Checksum: D124C6E3503B031E	FASTA	229	25,560
	10 20 30 40 50 60 MVVVIVCLLN HYKVSTRSFI NRPNQSRRRE DGLPQEGCLW PSDSAAPRLG ASEIMHAPRS 70 80 90 100 110 120 RDRFTAPSFI QRDRFSRFQP TYPYVQHEID LPPTISLSDG EEPPPYQGPC TLQLRDPEQQ 130 140 150 160 170 180 MELNRESVRA PPNRTIFDSD LIDIAMYSGG PCPPSSNSGI SASTCSSNGR MEGPPPTYSE 190 200 210 220 VMGHHPGASF LHHQRSNAHR GSRLQFQQNN AESTIVPIKG KDRKPGNLV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Multiple transcriptional variants and RNA editing in C18orf1, a novel gene with LDLRA and transmembrane domains on 18p11.2." Yoshikawa T., Sanders A.R., Esterling L.E., Detera-Wadleigh S.D. Genomics 47:246-257(1998) [PubMed: 9479497] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA-1; ALPHA-2; BETA-1 AND BETA-2). Tissue: Brain.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS ALPHA-2 AND 5). Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF009424 mRNA. Translation: AAC52023.1. AF009425 mRNA. Translation: AAC52024.1. AF009426 mRNA. Translation: AAC52025.1. AF009427 mRNA. Translation: AAC52026.1. CH471113 Genomic DNA. Translation: EAX01514.1. BC030199 mRNA. Translation: AAH30199.1. BC066971 mRNA. Translation: AAH66971.1.
IPI	IPI00218243. IPI00218244. IPI00220323. IPI00413630. IPI00455979.
RefSeq	NP_001003674.1. NP_001003675.1. NP_004329.1. NP_852146.1. NP_852147.1. NP_852148.1.
UniGene	Hs.149363
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	O15165.
Proteomic databases
PRIDE	O15165.
Genome annotation databases
Ensembl	ENST00000361205; ENSP00000354753; ENSG00000168675; Homo sapiens. [Genome view]
GeneID	753.
KEGG	hsa:753.
NMPDR	fig|9606.3.peg.14818.
UCSC	uc002ksa.1. human. uc002kse.1. human. uc002ksf.1. human.
Organism-specific databases
CTD	753.
GeneCards	GC18P013208.
HGNC	HGNC:1224. C18orf1.
MIM	606571. gene.
PharmGKB	PA25593.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O15165.
HOVERGEN	O15165.
OMA	ICLLNHY
OrthoDB	EOG9258CX
Gene expression databases
ArrayExpress	O15165.
Bgee	O15165.
CleanEx	HS_C18orf1.
Genevestigator	O15165.
GermOnline	ENSG00000168675. Homo sapiens.
Family and domain databases
InterPro	IPR002172. LDL_rcpt_classA_cys-rich_rpt. [Graphical view]
Gene3D	G3DSA:4.10.400.10. LDL_rcpt_classA_cys-rich. 1 hit.
Pfam	PF00057. Ldl_recept_a. 1 hit. [Graphical view]
SMART	SM00192. LDLa. 1 hit. [Graphical view]
PROSITE	PS01209. LDLRA_1. 1 hit. PS50068. LDLRA_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	3038.
SOURCE	Search...

Entry information

Entry name

CR001_HUMAN

Accession

Primary (citable) accession number: O15165
Secondary accession number(s): O15166 , O15167, O15168, Q5U646, Q6NXP3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
Last sequence update:	January 1, 1998
Last modified:	November 24, 2009
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.