Q5IJ48 (CRUM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 89.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein crumbs homolog 2 Alternative name(s): Crumbs-like protein 2 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference 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 | 1285 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May play a role in polarized cells morphogenesis. |
| Subcellular location | Isoform 1: Cell membrane; Single-pass type I membrane protein. |
| Tissue specificity | Expressed in retina, fetal eye and brain. Also expressed in kidney, ARPE-19 and RPE/choroid cell lines, and at low levels in lung, placenta, and heart. Ref.1 |
| Sequence similarities | Belongs to the Crumbs protein family. Contains 15 EGF-like domains. Contains 3 laminin G-like domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | EGF-like domain Repeat Signal Transmembrane Transmembrane helix |
| Ligand | Calcium |
| PTM | Disulfide bond Glycoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | calcium ion binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5IJ48-1) 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: Q5IJ48-2) The sequence of this isoform differs from the canonical sequence as follows: 1131-1176: LPVPSKECSL...GQRCQVPTLP → WDGWAGGWAA...VLICDMRRTV 1177-1285: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q5IJ48-3) The sequence of this isoform differs from the canonical sequence as follows: 1-332: Missing. 333-351: GHCQDLPNGFQCHCPDGYA → MAMEPGALWTFLGHLWLLA | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 28 | 28 | Potential | ||||||||
| Chain | 29 – 1285 | 1257 | Protein crumbs homolog 2 | PRO_0000007502 | |||||||
Regions | |||||||||||
| Topological domain | 29 – 1224 | 1196 | Extracellular Potential | ||||||||
| Transmembrane | 1225 – 1245 | 21 | Helical; Potential | ||||||||
| Topological domain | 1246 – 1285 | 40 | Cytoplasmic Potential | ||||||||
| Domain | 67 – 106 | 40 | EGF-like 1 | ||||||||
| Domain | 108 – 144 | 37 | EGF-like 2; calcium-binding Potential | ||||||||
| Domain | 146 – 182 | 37 | EGF-like 3; calcium-binding Potential | ||||||||
| Domain | 184 – 221 | 38 | EGF-like 4; calcium-binding Potential | ||||||||
| Domain | 223 – 259 | 37 | EGF-like 5 | ||||||||
| Domain | 261 – 318 | 58 | EGF-like 6 | ||||||||
| Domain | 320 – 356 | 37 | EGF-like 7; calcium-binding Potential | ||||||||
| Domain | 358 – 394 | 37 | EGF-like 8; calcium-binding Potential | ||||||||
| Domain | 396 – 436 | 41 | EGF-like 9 | ||||||||
| Domain | 431 – 603 | 173 | Laminin G-like 1 | ||||||||
| Domain | 605 – 641 | 37 | EGF-like 10 | ||||||||
| Domain | 647 – 805 | 159 | Laminin G-like 2 | ||||||||
| Domain | 807 – 843 | 37 | EGF-like 11 | ||||||||
| Domain | 871 – 1054 | 184 | Laminin G-like 3 | ||||||||
| Domain | 1056 – 1092 | 37 | EGF-like 12 | ||||||||
| Domain | 1094 – 1130 | 37 | EGF-like 13 | ||||||||
| Domain | 1134 – 1171 | 38 | EGF-like 14 | ||||||||
| Domain | 1173 – 1209 | 37 | EGF-like 15 | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 235 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 438 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 478 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 669 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 690 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 786 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 800 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 836 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 886 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 926 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1009 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1141 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1158 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 71 ↔ 82 | By similarity | |||||||||
| Disulfide bond | 76 ↔ 94 | By similarity | |||||||||
| Disulfide bond | 96 ↔ 105 | By similarity | |||||||||
| Disulfide bond | 112 ↔ 123 | By similarity | |||||||||
| Disulfide bond | 117 ↔ 132 | By similarity | |||||||||
| Disulfide bond | 134 ↔ 143 | By similarity | |||||||||
| Disulfide bond | 150 ↔ 161 | By similarity | |||||||||
| Disulfide bond | 155 ↔ 170 | By similarity | |||||||||
| Disulfide bond | 172 ↔ 181 | By similarity | |||||||||
| Disulfide bond | 188 ↔ 199 | By similarity | |||||||||
| Disulfide bond | 193 ↔ 208 | By similarity | |||||||||
| Disulfide bond | 210 ↔ 220 | By similarity | |||||||||
| Disulfide bond | 227 ↔ 238 | By similarity | |||||||||
| Disulfide bond | 232 ↔ 247 | By similarity | |||||||||
| Disulfide bond | 249 ↔ 258 | By similarity | |||||||||
| Disulfide bond | 265 ↔ 276 | By similarity | |||||||||
| Disulfide bond | 270 ↔ 306 | By similarity | |||||||||
| Disulfide bond | 308 ↔ 317 | By similarity | |||||||||
| Disulfide bond | 324 ↔ 335 | By similarity | |||||||||
| Disulfide bond | 329 ↔ 344 | By similarity | |||||||||
| Disulfide bond | 346 ↔ 355 | By similarity | |||||||||
| Disulfide bond | 362 ↔ 373 | By similarity | |||||||||
| Disulfide bond | 367 ↔ 382 | By similarity | |||||||||
| Disulfide bond | 384 ↔ 393 | By similarity | |||||||||
| Disulfide bond | 400 ↔ 411 | By similarity | |||||||||
| Disulfide bond | 405 ↔ 424 | By similarity | |||||||||
| Disulfide bond | 426 ↔ 435 | By similarity | |||||||||
| Disulfide bond | 579 ↔ 603 | By similarity | |||||||||
| Disulfide bond | 609 ↔ 620 | By similarity | |||||||||
| Disulfide bond | 614 ↔ 629 | By similarity | |||||||||
| Disulfide bond | 631 ↔ 640 | By similarity | |||||||||
| Disulfide bond | 766 ↔ 805 | By similarity | |||||||||
| Disulfide bond | 811 ↔ 822 | By similarity | |||||||||
| Disulfide bond | 816 ↔ 831 | By similarity | |||||||||
| Disulfide bond | 833 ↔ 842 | By similarity | |||||||||
| Disulfide bond | 1013 ↔ 1054 | By similarity | |||||||||
| Disulfide bond | 1060 ↔ 1071 | By similarity | |||||||||
| Disulfide bond | 1065 ↔ 1080 | By similarity | |||||||||
| Disulfide bond | 1082 ↔ 1091 | By similarity | |||||||||
| Disulfide bond | 1098 ↔ 1108 | By similarity | |||||||||
| Disulfide bond | 1103 ↔ 1118 | By similarity | |||||||||
| Disulfide bond | 1120 ↔ 1129 | By similarity | |||||||||
| Disulfide bond | 1138 ↔ 1150 | By similarity | |||||||||
| Disulfide bond | 1144 ↔ 1159 | By similarity | |||||||||
| Disulfide bond | 1161 ↔ 1170 | By similarity | |||||||||
| Disulfide bond | 1177 ↔ 1188 | By similarity | |||||||||
| Disulfide bond | 1182 ↔ 1197 | By similarity | |||||||||
| Disulfide bond | 1199 ↔ 1208 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 332 | 332 | Missing in isoform 3. | VSP_014737 | |||||||
| Alternative sequence | 333 – 351 | 19 | GHCQD…PDGYA → MAMEPGALWTFLGHLWLLA in isoform 3. | VSP_014738 | |||||||
| Alternative sequence | 1131 – 1176 | 46 | LPVPS…VPTLP → WDGWAGGWAANAPWGYGGAE KSARSVDESLPFPGPHVLIC DMRRTV in isoform 2. | VSP_014739 | |||||||
| Alternative sequence | 1177 – 1285 | 109 | Missing in isoform 2. | VSP_014740 | |||||||
| Natural variant | 46 | 1 | P → L. Ref.1 | VAR_022984 | |||||||
| Natural variant | 90 | 1 | T → N. Ref.2 Corresponds to variant rs2808415 [ dbSNP | Ensembl ]. | VAR_048974 | |||||||
| Natural variant | 97 | 1 | V → L. Ref.1 | VAR_022985 | |||||||
| Natural variant | 116 | 1 | P → L. Ref.1 | VAR_022986 | |||||||
| Natural variant | 145 | 1 | M → T. Ref.1 Ref.2 Corresponds to variant rs1105223 [ dbSNP | Ensembl ]. | VAR_022987 | |||||||
| Natural variant | 159 | 1 | G → A. Ref.1 Ref.2 Corresponds to variant rs1105222 [ dbSNP | Ensembl ]. | VAR_022988 | |||||||
| Natural variant | 187 | 1 | E → D. Ref.1 | VAR_022989 | |||||||
| Natural variant | 351 | 1 | A → T. Ref.1 | VAR_022990 | |||||||
| Natural variant | 534 | 1 | R → Q. Ref.1 | VAR_022991 | |||||||
| Natural variant | 610 | 1 | R → W. Ref.1 | VAR_022992 | |||||||
| Natural variant | 709 | 1 | V → A. Ref.1 Ref.2 Corresponds to variant rs2488602 [ dbSNP | Ensembl ]. | VAR_061153 | |||||||
| Natural variant | 746 | 1 | H → Q. Ref.1 | VAR_022993 | |||||||
| Natural variant | 1110 | 1 | T → M. Ref.1 | VAR_022994 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 430 | 1 | T → A in BAC86684. Ref.2 | ||||||||
| Sequence conflict | 969 | 1 | T → A in AK123000. Ref.2 | ||||||||
| Sequence conflict | 969 | 1 | T → A in BAC86684. Ref.2 | ||||||||
| Sequence conflict | 1153 | 1 | G → R in BAC86684. Ref.2 | ||||||||
| Sequence conflict | 1239 | 1 | Missing in BAC86684. Ref.2 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of the crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis." van den Hurk J.A.J.M., Rashbass P., Roepman R., Davis J., Voesenek K.E.J., Arends M.L., Zonneveld M.N., van Roekel M.H.G., Cameron K., Rohrschneider K., Heckenlively J.R., Koenekoop R.K., Hoyng C.B., Cremers F.P.M., den Hollander A.I. Mol. Vis. 11:263-273(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS LEU-46; LEU-97; LEU-116; THR-145; ALA-159; ASP-187; THR-351; GLN-534; TRP-610; ALA-709; GLN-746 AND MET-1110. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANTS ASN-90; THR-145; ALA-159 AND ALA-709. Tissue: Cerebellum. |
| [3] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Roni V., Carpio R., Wissinger B. Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-22. Tissue: Retina. |
| [5] | "The crystal structure of the human dual specificity tyrosine-phosphorylation-regulated kinase 1A." Structural genomics consortium (SGC) Submitted (AUG-2009) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 4-9 IN COMPLEX WITH DYRK1A. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AY720432 mRNA. Translation: AAU14134.1. AK123000 mRNA. No translation available. AK126775 mRNA. Translation: BAC86684.1. AL445489, AL365504 Genomic DNA. Translation: CAI39793.1. AL365504, AL445489 Genomic DNA. Translation: CAI41011.1. AL445489, AL365504 Genomic DNA. Translation: CAM14433.1. AL365504, AL445489 Genomic DNA. Translation: CAM21391.1. DQ426866 mRNA. Translation: ABD90532.1. | ||||||||||||
| IPI | IPI00410585. IPI00607804. IPI00607881. | ||||||||||||
| RefSeq | NP_775960.4. NM_173689.5. | ||||||||||||
| UniGene | Hs.710092. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q5IJ48. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| STRING | 9606.ENSP00000362734. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q5IJ48. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 116241316. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q5IJ48. | ||||||||||||
| PRIDE | Q5IJ48. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000359999; ENSP00000353092; ENSG00000148204. ENST00000373629; ENSP00000362732; ENSG00000148204. ENST00000373631; ENSP00000362734; ENSG00000148204. ENST00000460253; ENSP00000435279; ENSG00000148204. | ||||||||||||
| GeneID | 286204. | ||||||||||||
| KEGG | hsa:286204. | ||||||||||||
| UCSC | uc004bnw.1. human. uc004bnx.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 286204. | ||||||||||||
| GeneCards | GC09P126118. | ||||||||||||
| H-InvDB | HIX0008365. | ||||||||||||
| HGNC | HGNC:18688. CRB2. | ||||||||||||
| HPA | HPA043674. | ||||||||||||
| MIM | 609720. gene. | ||||||||||||
| neXtProt | NX_Q5IJ48. | ||||||||||||
| PharmGKB | PA134910460. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG12793. | ||||||||||||
| HOVERGEN | HBG080001. | ||||||||||||
| InParanoid | Q5IJ48. | ||||||||||||
| KO | K16681. | ||||||||||||
| OMA | GVTCEAE. | ||||||||||||
| OrthoDB | EOG4XWFX3. | ||||||||||||
Gene expression databases | |||||||||||||
| Bgee | Q5IJ48. | ||||||||||||
| CleanEx | HS_CRB2. | ||||||||||||
| Genevestigator | Q5IJ48. | ||||||||||||
| GermOnline | ENSG00000148204. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 2.60.120.200. 4 hits. | ||||||||||||
| InterPro | IPR008985. ConA-like_lec_gl_sf. IPR013320. ConA-like_subgrp. IPR000742. EG-like_dom. IPR001881. EGF-like_Ca-bd. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR018097. EGF_Ca-bd_CS. IPR001791. Laminin_G. [Graphical view] | ||||||||||||
| Pfam | PF00008. EGF. 7 hits. PF12661. hEGF. 1 hit. PF02210. Laminin_G_2. 2 hits. [Graphical view] | ||||||||||||
| SMART | SM00181. EGF. 9 hits. SM00179. EGF_CA. 6 hits. SM00282. LamG. 3 hits. [Graphical view] | ||||||||||||
| SUPFAM | SSF49899. ConA_like_lec_gl. 3 hits. | ||||||||||||
| PROSITE | PS00010. ASX_HYDROXYL. 7 hits. PS00022. EGF_1. 14 hits. PS01186. EGF_2. 8 hits. PS50026. EGF_3. 15 hits. PS01187. EGF_CA. 5 hits. PS50025. LAM_G_DOMAIN. 2 hits. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| EvolutionaryTrace | Q5IJ48. | ||||||||||||
| GenomeRNAi | 286204. | ||||||||||||
| NextBio | 96074. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | CRUM2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5IJ48 Secondary accession number(s): A2A3N4 Q6ZWI6 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
