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Q6UXH1 (CREL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cysteine-rich with EGF-like domain protein 2
Gene names
Name:CRELD2
ORF Names:UNQ185/PRO211
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length353 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May regulate transport of alpha4-beta2 neuronal acetylcholine receptor.

Subunit structure

May interact with CHRNA4.

Subcellular location

Secreted Potential. Endoplasmic reticulum Ref.1.

Tissue specificity

Ubiquitously expressed. Ref.1 Ref.2

Developmental stage

Expressed in all fetal tissues tested. Ref.2

Sequence similarities

Belongs to the CRELD family.

Contains 2 EGF-like domains.

Contains 2 FU (furin-like) repeats.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CDKN2AP427712EBI-3935314,EBI-375053

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6UXH1-1)

Also known as: Delta;

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: Q6UXH1-2)

Also known as: Alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     258-289: Missing.
Isoform 3 (identifier: Q6UXH1-3)

Also known as: Beta;

The sequence of this isoform differs from the canonical sequence as follows:
     258-284: ECDSSCVGCTGEGPGNCKECISGYARE → GGPGGRVCTPGPAGFRCCLCQHSFMAS
     285-353: Missing.
Note: Minor isoform.
Isoform 4 (identifier: Q6UXH1-4)

Also known as: Gamma;

The sequence of this isoform differs from the canonical sequence as follows:
     230-257: Missing.
Isoform 5 (identifier: Q6UXH1-5)

Also known as: Epsilon;

The sequence of this isoform differs from the canonical sequence as follows:
     197-197: T → TVRTGLSDSYPPCCLSLGCWRGVGHAWIRGRNTHTQPGYSSRVWIAAFSP
Isoform 6 (identifier: Q6UXH1-6)

Also known as: Zeta;

The sequence of this isoform differs from the canonical sequence as follows:
     337-353: EATEGESPTQLPSREDL → GEWHGCPPHRLPSPGPQGLHVDWLLGLKSTQMVALRW

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Ref.7
Chain25 – 353329Cysteine-rich with EGF-like domain protein 2
PRO_0000256244

Regions

Domain136 – 17843EGF-like 1
Repeat193 – 24048FU 1
Repeat253 – 30250FU 2
Domain290 – 33142EGF-like 2; calcium-binding Potential

Amino acid modifications

Glycosylation2511N-linked (GlcNAc...) Potential
Disulfide bond140 ↔ 154 By similarity
Disulfide bond148 ↔ 166 By similarity
Disulfide bond168 ↔ 177 By similarity
Disulfide bond294 ↔ 308 By similarity
Disulfide bond301 ↔ 317 By similarity
Disulfide bond319 ↔ 330 By similarity

Natural variations

Alternative sequence1971T → TVRTGLSDSYPPCCLSLGCW RGVGHAWIRGRNTHTQPGYS SRVWIAAFSP in isoform 5.
VSP_021339
Alternative sequence230 – 25728Missing in isoform 4.
VSP_021340
Alternative sequence258 – 28932Missing in isoform 2.
VSP_021341
Alternative sequence258 – 28427ECDSS…GYARE → GGPGGRVCTPGPAGFRCCLC QHSFMAS in isoform 3.
VSP_021342
Alternative sequence285 – 35369Missing in isoform 3.
VSP_021343
Alternative sequence337 – 35317EATEG…SREDL → GEWHGCPPHRLPSPGPQGLH VDWLLGLKSTQMVALRW in isoform 6.
VSP_021344
Natural variant1821D → E.
Corresponds to variant rs8139422 [ dbSNP | Ensembl ].
VAR_028892
Natural variant2951S → A. Ref.6
Corresponds to variant rs11545762 [ dbSNP | Ensembl ].
VAR_028893
Natural variant3251E → G. Ref.6
Corresponds to variant rs11545763 [ dbSNP | Ensembl ].
VAR_028894

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Delta) [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: ED8C635DD74E768D

FASTA35338,192
        10         20         30         40         50         60 
MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK KNFGGGNTAW 

        70         80         90        100        110        120 
EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH LEAWWLQLKS EYPDLFEWFC 

       130        140        150        160        170        180 
VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC 

       190        200        210        220        230        240 
MDGYFSSLRN ETHSICTACD ESCKTCSGLT NRDCGECEVG WVLDEGACVD VDECAAEPPP 

       250        260        270        280        290        300 
CSAAQFCKNA NGSYTCEECD SSCVGCTGEG PGNCKECISG YAREHGQCAD VDECSLAEKT 

       310        320        330        340        350 
CVRKNENCYN TPGSYVCVCP DGFEETEDAC VPPAEAEATE GESPTQLPSR EDL 

« Hide

Isoform 2 (Alpha) [UniParc].

Checksum: A74360A1D817F23D
Show »

FASTA32134,958
Isoform 3 (Beta) [UniParc].

Checksum: 8C1CE8AA274D2EE4
Show »

FASTA28430,712
Isoform 4 (Gamma) [UniParc].

Checksum: D5C35D6D12530499
Show »

FASTA32535,288
Isoform 5 (Epsilon) [UniParc].

Checksum: 4BCFF7D3656A24A9
Show »

FASTA40243,579
Isoform 6 (Zeta) [UniParc].

Checksum: 4DD38359F3EEBC19
Show »

FASTA37340,491

References

« Hide 'large scale' references
[1]"The cysteine-rich with EGF-like domains 2 (CRELD2) protein interacts with the large cytoplasmic domain of human neuronal nicotinic acetylcholine receptor alpha4 and beta2 subunits."
Ortiz J.A., Castillo M., Dominguez del Toro E., Mulet J., Gerber S., Valor L.M., Sala S., Sala F., Gutierrez L.M., Criado M.
J. Neurochem. 95:1585-1596(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH CHRNA4.
Tissue: Brain.
[2]"CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region."
Maslen C.L., Babcock D., Redig J.K., Kapeli K., Akkari Y.M., Olson S.B.
Gene 382:111-120(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 4; 5 AND 6), ALTERNATIVE SPLICING (ISOFORMS 1; 2; 3; 4; 5 AND 6), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[3]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]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. expand/collapse author list , 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORMS 1 AND 2), VARIANTS ALA-295 AND GLY-325.
Tissue: Lung carcinoma and Pancreatic carcinoma.
[7]"Signal peptide prediction based on analysis of experimentally verified cleavage sites."
Zhang Z., Henzel W.J.
Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 25-39.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ968414 mRNA. Translation: CAI91316.1.
DQ470676 mRNA. Translation: ABF06668.1.
DQ470677 mRNA. Translation: ABF06669.1.
DQ470678 mRNA. Translation: ABF06670.1.
DQ470679 mRNA. Translation: ABF06671.1.
DQ470680 mRNA. Translation: ABF06672.1.
AY358355 mRNA. Translation: AAQ88721.1.
AL671710 Genomic DNA. Translation: CAO72066.1.
AL671710 Genomic DNA. Translation: CAO72067.1.
AL671710 Genomic DNA. Translation: CAO72068.1.
AL671710 Genomic DNA. Translation: CAO72069.1.
CH471138 Genomic DNA. Translation: EAW73483.1.
CH471138 Genomic DNA. Translation: EAW73484.1.
BC002894 mRNA. Translation: AAH02894.1.
BC050675 mRNA. Translation: AAH50675.1.
RefSeqNP_001128573.1. NM_001135101.2.
NP_001271246.1. NM_001284317.1.
NP_001271247.1. NM_001284318.1.
NP_077300.3. NM_024324.4.
XP_005261795.1. XM_005261738.2.
UniGeneHs.211282.

3D structure databases

ProteinModelPortalQ6UXH1.
SMRQ6UXH1. Positions 120-185, 229-324.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122591. 5 interactions.
IntActQ6UXH1. 28 interactions.
MINTMINT-4827922.
STRING9606.ENSP00000383938.

PTM databases

PhosphoSiteQ6UXH1.

Polymorphism databases

DMDM74738218.

Proteomic databases

PaxDbQ6UXH1.
PRIDEQ6UXH1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000328268; ENSP00000332223; ENSG00000184164. [Q6UXH1-1]
ENST00000403427; ENSP00000384111; ENSG00000184164. [Q6UXH1-4]
ENST00000404488; ENSP00000383938; ENSG00000184164. [Q6UXH1-5]
ENST00000407217; ENSP00000386034; ENSG00000184164. [Q6UXH1-2]
GeneID79174.
KEGGhsa:79174.
UCSCuc003biz.3. human. [Q6UXH1-3]
uc003bja.2. human. [Q6UXH1-1]
uc010haj.3. human. [Q6UXH1-6]
uc010hak.2. human. [Q6UXH1-4]
uc010hal.2. human. [Q6UXH1-5]
uc010ham.2. human. [Q6UXH1-2]

Organism-specific databases

CTD79174.
GeneCardsGC22P050311.
H-InvDBHIX0018450.
HGNCHGNC:28150. CRELD2.
HPACAB025604.
HPA000603.
MIM607171. gene.
neXtProtNX_Q6UXH1.
PharmGKBPA142672079.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315654.
HOVERGENHBG081344.
OMATCVGCTG.
PhylomeDBQ6UXH1.
TreeFamTF316507.

Gene expression databases

ArrayExpressQ6UXH1.
BgeeQ6UXH1.
CleanExHS_CRELD2.
GenevestigatorQ6UXH1.

Family and domain databases

InterProIPR021852. DUF3456.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR002049. EGF_laminin.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_N_dom.
[Graphical view]
PfamPF11938. DUF3456. 2 hits.
PF07645. EGF_CA. 1 hit.
[Graphical view]
SMARTSM00181. EGF. 1 hit.
SM00179. EGF_CA. 1 hit.
SM00261. FU. 2 hits.
[Graphical view]
SUPFAMSSF57184. SSF57184. 1 hit.
PROSITEPS00010. ASX_HYDROXYL. 1 hit.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 2 hits.
PS01187. EGF_CA. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCRELD2. human.
GeneWikiCRELD2.
GenomeRNAi79174.
NextBio68145.
PROQ6UXH1.
SOURCESearch...

Entry information

Entry nameCREL2_HUMAN
AccessionPrimary (citable) accession number: Q6UXH1
Secondary accession number(s): A5GZA2 expand/collapse secondary AC list , A5GZA3, A5GZA4, A5GZA5, A5GZA6, Q4W0V0, Q86UC0, Q9BU47
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM