O43852 (CALU_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 125.
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: Calumenin Alternative name(s): Crocalbin IEF SSP 9302 | ||
| 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 | 315 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 | Involved in regulation of vitamin K-dependent carboxylation of multiple N-terminal glutamate residues. Seems to inhibit gamma-carboxylase GGCX. Binds 7 calcium ions with a low affinity By similarity. |
| Subunit structure | Interacts with GGCX By similarity. |
| Subcellular location | Endoplasmic reticulum lumen. Secreted. Melanosome. Sarcoplasmic reticulum lumen By similarity. Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Ref.12 Ref.13 Ref.14 |
| Tissue specificity | Ubiquitously expressed. Expressed at high levels in heart, placenta and skeletal muscle, at lower levels in lung, kidney and pancreas and at very low levels in brain and liver. |
| Sequence similarities | Belongs to the CREC family. Contains 6 EF-hand domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Sarcoplasmic reticulum Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Signal |
| Ligand | Calcium Metal-binding |
| PTM | Glycoprotein Phosphoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | platelet activation Traceable author statement. Source: Reactome platelet degranulationTraceable author statement. Source: Reactome |
| Cellular_component | Golgi apparatus Traceable author statement PubMed 9218460. Source: ProtInc endoplasmic reticulumInferred from direct assay. Source: HPA extracellular regionInferred from electronic annotation. Source: UniProtKB-SubCell melanosomeInferred from electronic annotation. Source: UniProtKB-SubCell sarcoplasmic reticulum lumenInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | calcium ion binding Inferred from direct assay PubMed 10094503. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 15 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O43852-1) 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: O43852-2) Also known as: Crocalbin; The sequence of this isoform differs from the canonical sequence as follows: 75-137: KIVSKIDGDK...EYKNATYGYV → MIVDKIDADK...EYRNVTYGTY | ||||||
| Isoform 3 (identifier: O43852-3) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MKETDLIIM | ||||||
| Isoform 4 (identifier: O43852-4) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MKETDLIIM 75-137: KIVSKIDGDK...EYKNATYGYV → MIVDKIDADK...EYRNVTYGTY | ||||||
| Isoform 5 (identifier: O43852-5) The sequence of this isoform differs from the canonical sequence as follows: 164-249: Missing. | ||||||
| Isoform 6 (identifier: O43852-6) The sequence of this isoform differs from the canonical sequence as follows: 226-275: Missing. | ||||||
| Isoform 7 (identifier: O43852-7) The sequence of this isoform differs from the canonical sequence as follows: 75-137: KIVSKIDGDK...EYKNATYGYV → MIVDKIDADK...EYRNVTYGTY 154-161: VRDERRFK → GILMSRNG 162-315: Missing. | ||||||
| Isoform 8 (identifier: O43852-8) The sequence of this isoform differs from the canonical sequence as follows: 75-137: KIVSKIDGDK...EYKNATYGYV → MIVDKIDADK...EYRNVTYGTY 172-285: Missing. | ||||||
| Isoform 9 (identifier: O43852-9) The sequence of this isoform differs from the canonical sequence as follows: 94-254: Missing. | ||||||
| Isoform 10 (identifier: O43852-10) The sequence of this isoform differs from the canonical sequence as follows: 216-315: DMYSHDGNTD...GEALVRHDEF → WQAYQGGDR | ||||||
| Isoform 11 (identifier: O43852-11) The sequence of this isoform differs from the canonical sequence as follows: 165-170: KDGDLI → RARAVC 171-315: Missing. | ||||||
| Isoform 12 (identifier: O43852-12) The sequence of this isoform differs from the canonical sequence as follows: 75-315: Missing. | ||||||
| Isoform 13 (identifier: O43852-13) The sequence of this isoform differs from the canonical sequence as follows: 139-139: D → E 140-315: Missing. | ||||||
| Isoform 14 (identifier: O43852-14) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MKETDLIIM 139-139: D → E 140-315: Missing. | ||||||
| Isoform 15 (identifier: O43852-15) The sequence of this isoform differs from the canonical sequence as follows: 1-151: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 19 | 19 | Ref.11 | ||||||
| Chain | 20 – 315 | 296 | Calumenin | PRO_0000004153 | |||||
Regions | |||||||||
| Domain | 68 – 103 | 36 | EF-hand 1 | ||||||
| Domain | 104 – 139 | 36 | EF-hand 2 | ||||||
| Domain | 151 – 186 | 36 | EF-hand 3 | ||||||
| Domain | 188 – 223 | 36 | EF-hand 4 | ||||||
| Domain | 229 – 264 | 36 | EF-hand 5 | ||||||
| Domain | 265 – 300 | 36 | EF-hand 6 | ||||||
| Calcium binding | 81 – 92 | 12 | 1 Potential | ||||||
| Calcium binding | 117 – 128 | 12 | 2 Potential | ||||||
| Calcium binding | 164 – 175 | 12 | 3; possibly ancestral Potential | ||||||
| Calcium binding | 201 – 212 | 12 | 4 Potential | ||||||
| Calcium binding | 242 – 253 | 12 | 5 Potential | ||||||
| Calcium binding | 278 – 289 | 12 | 6 Potential | ||||||
| Motif | 312 – 315 | 4 | Prevents secretion from ER By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 44 | 1 | Phosphoserine Ref.16 Ref.18 | ||||||
| Modified residue | 65 | 1 | Phosphothreonine Ref.15 Ref.16 Ref.18 | ||||||
| Glycosylation | 131 | 1 | N-linked (GlcNAc...) Ref.17 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 151 | 151 | Missing in isoform 15. | VSP_045939 | |||||
| Alternative sequence | 1 | 1 | M → MKETDLIIM in isoform 3, isoform 4 and isoform 14. | VSP_043570 | |||||
| Alternative sequence | 75 – 315 | 241 | Missing in isoform 12. | VSP_045940 | |||||
| Alternative sequence | 75 – 137 | 63 | KIVSK…TYGYV → MIVDKIDADKDGFVTEGELK SWIKHAQKKYIYDNVENQWQ EFDMNQDGLISWDEYRNVTY GTY in isoform 2, isoform 4, isoform 7 and isoform 8. | VSP_007317 | |||||
| Alternative sequence | 94 – 254 | 161 | Missing in isoform 9. | VSP_045941 | |||||
| Alternative sequence | 139 | 1 | D → E in isoform 13 and isoform 14. | VSP_045942 | |||||
| Alternative sequence | 140 – 315 | 176 | Missing in isoform 13 and isoform 14. | VSP_045943 | |||||
| Alternative sequence | 154 – 161 | 8 | VRDERRFK → GILMSRNG in isoform 7. | VSP_045944 | |||||
| Alternative sequence | 162 – 315 | 154 | Missing in isoform 7. | VSP_045945 | |||||
| Alternative sequence | 164 – 249 | 86 | Missing in isoform 5. | VSP_045946 | |||||
| Alternative sequence | 165 – 170 | 6 | KDGDLI → RARAVC in isoform 11. | VSP_045947 | |||||
| Alternative sequence | 171 – 315 | 145 | Missing in isoform 11. | VSP_045948 | |||||
| Alternative sequence | 172 – 285 | 114 | Missing in isoform 8. | VSP_045949 | |||||
| Alternative sequence | 216 – 315 | 100 | DMYSH…RHDEF → WQAYQGGDR in isoform 10. | VSP_045950 | |||||
| Alternative sequence | 226 – 275 | 50 | Missing in isoform 6. | VSP_045951 | |||||
| Natural variant | 4 | 1 | R → Q. Ref.4 Corresponds to variant rs2290228 [ dbSNP | Ensembl ]. | VAR_022051 | |||||
Experimental info | |||||||||
| Sequence conflict | 48 | 1 | D → G in ADG45013. Ref.4 | ||||||
| Sequence conflict | 84 | 1 | K → R in ADG45007. Ref.4 | ||||||
| Sequence conflict | 90 | 1 | V → A in ADG45010. Ref.4 | ||||||
| Sequence conflict | 117 | 1 | D → G in ADG45007. Ref.4 | ||||||
| Sequence conflict | 118 | 1 | L → H in ADG45011. Ref.4 | ||||||
| Sequence conflict | 147 | 1 | F → S in ADG45012. Ref.4 | ||||||
| Sequence conflict | 188 | 1 | M → V in ADG45015. Ref.4 | ||||||
| Sequence conflict | 207 | 1 | F → L in AAB97725. Ref.1 | ||||||
| Sequence conflict | 232 | 1 | T → S in ADG45015. Ref.4 | ||||||
| Sequence conflict | 267 | 1 | E → V in CAG46634. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning of a cDNA encoding human calumenin, expression in Escherichia coli and analysis of its Ca2+-binding activity." Vorum H., Liu X., Madsen P., Rasmussen H.H., Honore B. Biochim. Biophys. Acta 1386:121-131(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, CALCIUM-BINDING. Tissue: Keratinocyte. |
| [2] | "Human calumenin gene (CALU): cDNA isolation and chromosomal mapping to 7q32." Yabe D., Taniwaki M., Nakamura T., Kanazawa N., Tashiro K., Honjo T. Genomics 49:331-333(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | "Novel splice variant of human calumenin." Peterson R.E. Jr., Watson D.K. Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). |
| [4] | "Calumenin isoforms and their intracellular and extracellular function." Wang Q., Chen L., Shen B.R., Feng H., Zheng P.L., Teng J.L., Chen J.G. Submitted (MAR-2010) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3; 4; 5; 6; 7; 8; 9; 10; 11; 12; 13; 14 AND 15), VARIANT GLN-4. |
| [5] | "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] (ISOFORM 3). |
| [6] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [7] | "The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K.Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | Mural R.J., Istrail S., Sutton 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. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | "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] (ISOFORM 1). Tissue: Brain. |
| [10] | Hseu M.-J., Tzeng M.-C. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-315 (ISOFORM 2). Tissue: Brain. |
| [11] | "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides." Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J. Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 20-27. Tissue: Platelet. |
| [12] | "Human calumenin localizes to the secretory pathway and is secreted to the medium." Vorum H., Hager H., Christensen B.M., Nielsen S., Honore B. Exp. Cell Res. 248:473-481(1999) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [13] | "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins." Basrur V., Yang F., Kushimoto T., Higashimoto Y., Yasumoto K., Valencia J., Muller J., Vieira W.D., Watabe H., Shabanowitz J., Hearing V.J., Hunt D.F., Appella E. J. Proteome Res. 2:69-79(2003) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Melanoma. |
| [14] | "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes." Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F. J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Melanoma. |
| [15] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-65, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [16] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-44 AND THR-65, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [17] | "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-131, MASS SPECTROMETRY. Tissue: Liver. |
| [18] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-44 AND THR-65, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [19] | "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]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U67280 mRNA. Translation: AAB97725.1. AF013759 mRNA. Translation: AAC17216.1. AF345637 mRNA. Translation: AAK72908.1. HM002604 mRNA. Translation: ADG45004.1. HM002605 mRNA. Translation: ADG45005.1. HM002606 mRNA. Translation: ADG45006.1. HM002607 mRNA. Translation: ADG45007.1. HM002608 mRNA. Translation: ADG45008.1. HM002609 mRNA. Translation: ADG45009.1. HM002610 mRNA. Translation: ADG45010.1. HM002611 mRNA. Translation: ADG45011.1. HM002612 mRNA. Translation: ADG45012.1. HM002613 mRNA. Translation: ADG45013.1. HM002614 mRNA. Translation: ADG45014.1. HM002615 mRNA. Translation: ADG45015.1. HM002616 mRNA. Translation: ADG45016.1. AK056338 mRNA. Translation: BAG51681.1. CR541835 mRNA. Translation: CAG46634.1. AC024952 Genomic DNA. No translation available. CH471070 Genomic DNA. Translation: EAW83679.1. BC013383 mRNA. Translation: AAH13383.1. AF257659 mRNA. Translation: AAF76141.1. |
| IPI | IPI00045396. IPI00789155. IPI00941900. IPI00969064. IPI00969136. IPI00982476. IPI01009160. IPI01013361. IPI01015093. |
| RefSeq | NP_001124146.1. NM_001130674.2. NP_001186600.1. NM_001199671.1. NP_001186601.1. NM_001199672.1. NP_001186602.1. NM_001199673.1. NP_001186603.1. NM_001199674.1. NP_001210.1. NM_001219.4. |
| UniGene | Hs.7753. |
3D structure databases | |
| ProteinModelPortal | O43852. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O43852. 13 interactions. |
| STRING | 9606.ENSP00000249364. |
PTM databases | |
| PhosphoSite | O43852. |
2D gel databases | |
| DOSAC-COBS-2DPAGE | O43852. |
Proteomic databases | |
| PaxDb | O43852. |
| PRIDE | O43852. |
Protocols and materials databases | |
| DNASU | 813. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000249364; ENSP00000249364; ENSG00000128595. ENST00000449187; ENSP00000408838; ENSG00000128595. ENST00000479257; ENSP00000420381; ENSG00000128595. ENST00000535011; ENSP00000442110; ENSG00000128595. ENST00000535623; ENSP00000439139; ENSG00000128595. ENST00000538546; ENSP00000438994; ENSG00000128595. ENST00000542996; ENSP00000438248; ENSG00000128595. |
| GeneID | 813. |
| KEGG | hsa:813. |
| UCSC | uc003vnq.3. human. uc003vns.3. human. |
Organism-specific databases | |
| CTD | 813. |
| GeneCards | GC07P128380. |
| HGNC | HGNC:1458. CALU. |
| HPA | HPA006018. |
| MIM | 603420. gene. |
| neXtProt | NX_O43852. |
| PharmGKB | PA26047. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG271367. |
| HOGENOM | HOG000230934. |
| HOVERGEN | HBG002834. |
| OMA | QYTQRRY. |
| OrthoDB | EOG444KKM. |
Enzyme and pathway databases | |
| Reactome | REACT_604. Hemostasis. |
Gene expression databases | |
| ArrayExpress | O43852. |
| Bgee | O43852. |
| CleanEx | HS_CALU. |
| Genevestigator | O43852. |
| GermOnline | ENSG00000128595. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.238.10. 2 hits. |
| InterPro | IPR027239. Calumenin. IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom. [Graphical view] |
| PANTHER | PTHR10827:SF34. PTHR10827:SF34. 1 hit. |
| Pfam | PF13499. EF_hand_5. 2 hits. [Graphical view] |
| SMART | SM00054. EFh. 4 hits. [Graphical view] |
| PROSITE | PS00018. EF_HAND_1. 4 hits. PS50222. EF_HAND_2. 6 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CALU. human. |
| GenomeRNAi | 813. |
| NextBio | 3296. |
| SOURCE | Search... |
Entry information
| Entry name | CALU_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O43852 Secondary accession number(s): B3KPG9 Q9NR43 | ||||||||
| 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 7 Human chromosome 7: 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
