Q7Z5P9 (MUC19_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 63.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Mucin-19 Short name=MUC-19 | ||
| 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 | 6254 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 function in ocular mucus homeostasis. Ref.5 |
| Subcellular location | Secreted Potential. |
| Tissue specificity | Expressed corneal epithelial cells, conjunctival goblet and epithelial cells and lacrimal gland cells (at protein level). Expressed by mucous cells of the submandibular gland and submucosal gland of the trachea. Expressed by middle ear epithelial cells. Ref.2 Ref.4 Ref.5 |
| Induction | Down-regulated in Sjoegren syndrome patients (at protein level). Ref.5 |
| Sequence similarities | Contains 1 CTCK (C-terminal cystine knot-like) domain. Contains 2 VWFC domains. Contains 3 VWFD domains. |
| Sequence caution | The sequence BAC04041.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Signal |
| PTM | Disulfide bond |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | O-glycan processing Traceable author statement. Source: Reactome post-translational protein modificationTraceable author statement. Source: Reactome |
| Cellular_component | Golgi lumen Traceable author statement. Source: Reactome extracellular regionInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q7Z5P9-1) 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: Q7Z5P9-2) The sequence of this isoform differs from the canonical sequence as follows: 5919-5936: GNTPGSTGVTSSQEGTTV → DSPSFPLFLICSYRGHNF 5937-6254: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – ? | Potential | |||||||||
| Chain | ? – 6254 | Mucin-19 | PRO_0000342664 | ||||||||
Regions | |||||||||||
| Domain | 1 – 97 | 97 | VWFD 1 | ||||||||
| Domain | 231 – 439 | 209 | VWFD 2 | ||||||||
| Domain | 691 – 900 | 210 | VWFD 3 | ||||||||
| Domain | 6029 – 6095 | 67 | VWFC 1 | ||||||||
| Domain | 6097 – 6159 | 63 | VWFC 2 | ||||||||
| Domain | 6162 – 6246 | 85 | CTCK | ||||||||
| Region | 910 – 5509 | 4600 | Approximate repeats of G-V-T-G-T-T-G-P-S-A | ||||||||
Amino acid modifications | |||||||||||
| Disulfide bond | 6158 ↔ 6209 | By similarity | |||||||||
| Disulfide bond | 6176 ↔ 6223 | By similarity | |||||||||
| Disulfide bond | 6185 ↔ 6239 | By similarity | |||||||||
| Disulfide bond | 6189 ↔ 6241 | By similarity | |||||||||
| Disulfide bond | ? ↔ 6245 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 5919 – 5936 | 18 | GNTPG…EGTTV → DSPSFPLFLICSYRGHNF in isoform 2. | VSP_034521 | |||||||
| Alternative sequence | 5937 – 6254 | 318 | Missing in isoform 2. | VSP_034522 | |||||||
| Natural variant | 133 | 1 | G → E. Corresponds to variant rs7955308 [ dbSNP | Ensembl ]. | VAR_056617 | |||||||
| Natural variant | 199 | 1 | T → K. Corresponds to variant rs11564170 [ dbSNP | Ensembl ]. | VAR_056618 | |||||||
| Natural variant | 206 | 1 | V → I. Corresponds to variant rs7958987 [ dbSNP | Ensembl ]. | VAR_056619 | |||||||
| Natural variant | 207 | 1 | R → L. Corresponds to variant rs17467284 [ dbSNP | Ensembl ]. | VAR_056620 | |||||||
| Natural variant | 219 | 1 | D → H. Corresponds to variant rs11564245 [ dbSNP | Ensembl ]. | VAR_056621 | |||||||
| Natural variant | 259 | 1 | V → I. Corresponds to variant rs10506156 [ dbSNP | Ensembl ]. | VAR_056622 | |||||||
| Natural variant | 285 | 1 | V → I. Corresponds to variant rs28365246 [ dbSNP | Ensembl ]. | VAR_056623 | |||||||
| Natural variant | 299 | 1 | V → I. Corresponds to variant rs11564125 [ dbSNP | Ensembl ]. | VAR_056624 | |||||||
| Natural variant | 426 | 1 | L → F. Corresponds to variant rs12317988 [ dbSNP | Ensembl ]. | VAR_056625 | |||||||
| Natural variant | 567 | 1 | I → T. Corresponds to variant rs11176635 [ dbSNP | Ensembl ]. | VAR_056626 | |||||||
| Natural variant | 642 | 1 | S → F. Corresponds to variant rs4768261 [ dbSNP | Ensembl ]. | VAR_056627 | |||||||
| Natural variant | 694 | 1 | I → M. Corresponds to variant rs7966110 [ dbSNP | Ensembl ]. | VAR_056628 | |||||||
| Natural variant | 712 | 1 | G → S. Corresponds to variant rs4768264 [ dbSNP | Ensembl ]. | VAR_056629 | |||||||
| Natural variant | 731 | 1 | R → H. Corresponds to variant rs7312154 [ dbSNP | Ensembl ]. | VAR_056630 | |||||||
| Natural variant | 743 | 1 | G → W. Corresponds to variant rs12369002 [ dbSNP | Ensembl ]. | VAR_056631 | |||||||
| Natural variant | 783 | 1 | A → T. Corresponds to variant rs11564141 [ dbSNP | Ensembl ]. | VAR_056632 | |||||||
| Natural variant | 827 | 1 | C → Y. Corresponds to variant rs11564109 [ dbSNP | Ensembl ]. | VAR_056633 | |||||||
| Natural variant | 867 | 1 | A → T. Corresponds to variant rs11176666 [ dbSNP | Ensembl ]. | VAR_056634 | |||||||
| Natural variant | 909 | 1 | V → A. Corresponds to variant rs10784621 [ dbSNP | Ensembl ]. | VAR_056635 | |||||||
| Natural variant | 1037 | 1 | N → S. Corresponds to variant rs17128169 [ dbSNP | Ensembl ]. | VAR_056636 | |||||||
| Natural variant | 1104 | 1 | T → A. Corresponds to variant rs17128233 [ dbSNP | Ensembl ]. | VAR_056637 | |||||||
| Natural variant | 1178 | 1 | E → A. Corresponds to variant rs2933353 [ dbSNP | Ensembl ]. | VAR_056638 | |||||||
| Natural variant | 1186 | 1 | S → R. Corresponds to variant rs7956459 [ dbSNP | Ensembl ]. | VAR_056639 | |||||||
| Natural variant | 1462 | 1 | A → S. Corresponds to variant rs1492333 [ dbSNP | Ensembl ]. | VAR_056640 | |||||||
Sequences
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References
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AC024935 Genomic DNA. No translation available. AC074030 Genomic DNA. No translation available. AC107023 Genomic DNA. No translation available. AY236870 mRNA. Translation: AAP41817.1. AK093065 mRNA. Translation: BAC04041.1. Different initiation. |
| IPI | IPI00829833. IPI00896516. |
| UniGene | Hs.632712. |
3D structure databases | |
| ProteinModelPortal | Q7Z5P9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000395253. |
PTM databases | |
| PhosphoSite | Q7Z5P9. |
Polymorphism databases | |
| DMDM | 193806311. |
Proteomic databases | |
| PaxDb | Q7Z5P9. |
| PRIDE | Q7Z5P9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000538912; ENSP00000440762; ENSG00000205592. |
Organism-specific databases | |
| GeneCards | GC12P040788. |
| H-InvDB | HIX0210549. |
| HGNC | HGNC:14362. MUC19. |
| MIM | 612170. gene. |
| neXtProt | NX_Q7Z5P9. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| InParanoid | Q7Z5P9. |
Enzyme and pathway databases | |
| Reactome | REACT_17015. Metabolism of proteins. |
Gene expression databases | |
| ArrayExpress | Q7Z5P9. |
| Bgee | Q7Z5P9. |
| CleanEx | HS_MUC19. |
| Genevestigator | Q7Z5P9. |
Family and domain databases | |
| InterPro | IPR006207. Cys_knot_C. IPR002919. TIL_dom. IPR014853. Unchr_dom_Cys-rich. IPR001007. VWF_C. IPR001846. VWF_type-D. [Graphical view] |
| Pfam | PF08742. C8. 2 hits. PF01826. TIL. 1 hit. PF00094. VWD. 2 hits. [Graphical view] |
| SMART | SM00832. C8. 2 hits. SM00041. CT. 1 hit. SM00214. VWC. 1 hit. SM00216. VWD. 2 hits. [Graphical view] |
| SUPFAM | SSF57567. Cysrich_TIL. 4 hits. |
| PROSITE | PS01185. CTCK_1. 1 hit. PS01225. CTCK_2. 1 hit. PS01208. VWFC_1. False negative. PS50184. VWFC_2. 1 hit. PS51233. VWFD. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| SOURCE | Search... |
Entry information
| Entry name | MUC19_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7Z5P9 Secondary accession number(s): Q8NA85 | ||||||||
| 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 12 Human chromosome 12: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
