Reviewed, UniProtKB/Swiss-Prot Q6UXH8 (CCBE1_HUMAN)

Names and origin

Protein names

Recommended name:
    Collagen and calcium-binding EGF domain-containing protein 1
Alternative name(s):
    Full of fluid protein homolog

Gene names

Name:	CCBE1
Synonyms:	KIAA1983
ORF Names:	UNQ1921/PRO4395

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	406 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis By similarity.
Subcellular location	Secreted Potential.
Tissue specificity	Not expressed in blood or lymphatic endothelial cells. Ref.5
Sequence similarities	Belongs to the CCBE1 family. Contains 2 collagen-like domains. Contains 1 EGF-like domain.

Ontologies

Keywords
Biological process	Angiogenesis
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Collagen EGF-like domain Repeat Signal
Ligand	Calcium
Molecular function	Developmental protein
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	lymphangiogenesis Inferred from sequence or structural similarity. Source: UniProtKB sprouting angiogenesis Inferred from sequence or structural similarity. Source: UniProtKB venous blood vessel morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6UXH8-1)

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: Q6UXH8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-271: Missing.
     272-305: MPGPPGQPGPRGSMGPMGPSPDLSHIKQGRRGPV → MQLTWASISLVTRCWPQTPTFQDLLACLGARALP

Note: No experimental confirmation available.

Isoform 3 (identifier: Q6UXH8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-191: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 34	34	Potential
	Chain	35 – 406	372	Collagen and calcium-binding EGF domain-containing protein 1		PRO_0000279516
Regions
	Domain	134 – 175	42	EGF-like; calcium-binding Potential
	Domain	245 – 290	46	Collagen-like 1
	Domain	300 – 333	34	Collagen-like 2
Amino acid modifications
	Glycosylation	142	1	N-linked (GlcNAc...) Potential
	Glycosylation	182	1	N-linked (GlcNAc...) Potential
	Disulfide bond	138 ↔ 150		By similarity
	Disulfide bond	146 ↔ 159		By similarity
	Disulfide bond	161 ↔ 174		By similarity
Natural variations
	Alternative sequence	1 – 271	271	Missing in isoform 2.		VSP_023470
	Alternative sequence	1 – 191	191	Missing in isoform 3.		VSP_023469
	Alternative sequence	272 – 305	34	MPGPP…RRGPV → MQLTWASISLVTRCWPQTPT FQDLLACLGARALP in isoform 2.		VSP_023471
	Natural variant	193	1	V → G: dbSNP rs11659589.		VAR_048971

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 86BCB49EF2D801F9	FASTA	406	44,103
	10 20 30 40 50 60 MVPPPPSRGG AARGQLGRSL GPLLLLLALG HTWTYREEPE DGDREICSES KIATTKYPCL 70 80 90 100 110 120 KSSGELTTCY RKKCCKGYKF VLGQCIPEDY DVCAEAPCEQ QCTDNFGRVL CTCYPGYRYD 130 140 150 160 170 180 RERHRKREKP YCLDIDECAS SNGTLCAHIC INTLGSYRCE CREGYIREDD GKTCTRGDKY 190 200 210 220 230 240 PNDTGHEKSE NMVKAGTCCA TCKEFYQMKQ TVLQLKQKIA LLPNNAADLG KYITGDKVLA 250 260 270 280 290 300 SNTYLPGPPG LPGGQGPPGS PGPKGSPGFP GMPGPPGQPG PRGSMGPMGP SPDLSHIKQG 310 320 330 340 350 360 RRGPVGPPGA PGRDGSKGER GAPGPRGSPG PPGSFDFLLL MLADIRNDIT ELQEKVFGHR 370 380 390 400 THSSAEEFPL PQEFPSYPEA MDLGSGDDHP RRTETRDLRA PRDFYP
	Isoform 2. Checksum: 3E73036EA15B76AD	FASTA	135	14,800
	10 20 30 40 50 60 MQLTWASISL VTRCWPQTPT FQDLLACLGA RALPGPPGAP GRDGSKGERG APGPRGSPGP 70 80 90 100 110 120 PGSFDFLLLM LADIRNDITE LQEKVFGHRT HSSAEEFPLP QEFPSYPEAM DLGSGDDHPR 130 RTETRDLRAP RDFYP
	Isoform 3. Checksum: A6648F6EE5BFCF05	FASTA	215	22,600
	10 20 30 40 50 60 MVKAGTCCAT CKEFYQMKQT VLQLKQKIAL LPNNAADLGK YITGDKVLAS NTYLPGPPGL 70 80 90 100 110 120 PGGQGPPGSP GPKGSPGFPG MPGPPGQPGP RGSMGPMGPS PDLSHIKQGR RGPVGPPGAP 130 140 150 160 170 180 GRDGSKGERG APGPRGSPGP PGSFDFLLLM LADIRNDITE LQEKVFGHRT HSSAEEFPLP 190 200 210 QEFPSYPEAM DLGSGDDHPR RTETRDLRAP RDFYP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:319-327(2001) [PubMed: 11853319] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Fetal brain.
[4]	"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] (ISOFORM 3). Tissue: Lung.
[5]	"ccbe1 is required for embryonic lymphangiogenesis and venous sprouting." Hogan B.M., Bos F.L., Bussmann J., Witte M., Chi N.C., Duckers H.J., Schulte-Merker S. Nat. Genet. 41:396-398(2009) [PubMed: 19287381] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB075863 mRNA. Translation: BAB85569.1. Different initiation. AY358347 mRNA. Translation: AAQ88713.1. BX640826 mRNA. Translation: CAE45902.1. BC046645 mRNA. Translation: AAH46645.1.
IPI	IPI00152815. IPI00830026. IPI00830123.
RefSeq	NP_597716.1.
UniGene	Hs.34333
3D structure databases
HSSP	HSSP built from PDB template 1APQ based on UniProtKB P00736.
ModBase	Search...
Protein-protein interaction databases
STRING	Q6UXH8.
Proteomic databases
PRIDE	Q6UXH8.
Genome annotation databases
Ensembl	ENST00000439986; ENSP00000404464; ENSG00000183287; Homo sapiens. [Genome view]
GeneID	147372.
KEGG	hsa:147372.
UCSC	uc002lia.1. human. uc002lib.1. human. uc010dpq.1. human.
Organism-specific databases
CTD	147372.
GeneCards	GC18M055253.
HGNC	HGNC:29426. CCBE1.
PharmGKB	PA134880094.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q6UXH8.
OMA	YPNDTGH
Gene expression databases
ArrayExpress	Q6UXH8.
Bgee	Q6UXH8.
CleanEx	HS_CCBE1.
Genevestigator	Q6UXH8.
Family and domain databases
InterPro	IPR008160. Collagen. IPR006210. EGF-like. IPR013032. EGF-like_reg_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR000742. EGF_3. IPR001881. EGF_Ca_bd. IPR013091. EGF_Ca_bd_2. IPR018097. EGF_Ca_bd_CS. [Graphical view]
Pfam	PF01391. Collagen. 2 hits. PF07645. EGF_CA. 1 hit. [Graphical view]
SMART	SM00181. EGF. 1 hit. SM00179. EGF_CA. 1 hit. [Graphical view]
PROSITE	PS00010. ASX_HYDROXYL. 1 hit. PS00022. EGF_1. False negative. PS01186. EGF_2. 1 hit. PS50026. EGF_3. 1 hit. PS01187. EGF_CA. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	85596.

Entry information

Entry name

CCBE1_HUMAN

Accession

Primary (citable) accession number: Q6UXH8
Secondary accession number(s): Q6MZX5, Q86SS2, Q8TF19

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 6, 2007
Last sequence update:	July 5, 2004
Last modified:	November 24, 2009
This is version 45 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.