Q13683 (ITA7_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 136.
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: Integrin alpha-7 Cleaved into the following 3 chains: | ||||
| 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 | 1181 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 | Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation By similarity. Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells. Ref.13 Ref.14 Ref.16 |
| Subunit structure | Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-7 associates with beta-1. Interacts with COMP By similarity. |
| Subcellular location | |
| Tissue specificity | Isoforms containing segment A are predominantly expressed in skeletal muscle. Isoforms containing segment B are abundantly expressed in skeletal muscle, moderately in cardiac muscle, small intestine, colon, ovary and prostate and weakly in lung and testes. Isoforms containing segment X2D are expressed at low levels in fetal and adult skeletal muscle and in cardiac muscle, but are not detected in myoblasts and myotubes. In muscle fibers isoforms containing segment A and B are expressed at myotendinous and neuromuscular junctions; isoforms containing segment C are expressed at neuromuscular junctions and at extrasynaptic sites. Isoforms containing segments X1 or X2 or, at low levels, X1X2 are expressed in fetal and adult skeletal muscle (myoblasts and myotubes) and cardiac muscle. Ref.15 |
| Developmental stage | In renewing intestinal epithelium, expression of isoforms containing segment B correlates with the onset of enterocytic differentiation. |
| Post-translational modification | ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes By similarity. A 70 kDa form is created by proteolytic cleavage. Cleavage is elevated during myogenic differentiation and the cleaved form enhances cell adhesion and spreading on laminin. Ref.17 |
| Involvement in disease | Muscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI) [MIM:613204]: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. |
| Sequence similarities | Belongs to the integrin alpha chain family. Contains 7 FG-GAP repeats. |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. There is a combination of at least five alternatively spliced domains, three extracellular (X1, X2 and D) and two cytoplasmic (A and B). A third potential alternatively spliced cytoplasmic domain (C) does not appear to be expressed. | ||||||
| Isoform Alpha-7X1X2B (identifier: Q13683-1) 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. | ||||||
| Note: Gene prediction based on similarity to mouse ortholog. | ||||||
| Isoform Alpha-7X1B (identifier: Q13683-3) The sequence of this isoform differs from the canonical sequence as follows: 268-307: Missing. | ||||||
| Isoform Alpha-7X2B (identifier: Q13683-7) The sequence of this isoform differs from the canonical sequence as follows: 224-267: Missing. | ||||||
| Isoform Alpha-7X2DB (identifier: Q13683-9) The sequence of this isoform differs from the canonical sequence as follows: 702-776: Missing. | ||||||
| Isoform Alpha-7X1X2A (identifier: Q13683-10) The sequence of this isoform differs from the canonical sequence as follows: 1106-1181: MGFFKRAKHP...PDGHPGPGTA → CGFFHRSSQS...PRPPCPSTMR | ||||||
| Isoform 2 (identifier: Q13683-13) The sequence of this isoform differs from the canonical sequence as follows: 1-97: Missing. 98-138: LEETDCYRVD...RSQGPGGKIV → MAPFATPMVQ...TRRSPFEGKE 268-307: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 33 | 33 | Ref.11 Ref.12 | ||||||||
| Chain | 34 – 1181 | 1148 | Integrin alpha-7 | PRO_0000016267 | |||||||
| Chain | 34 – 955 | 922 | Integrin alpha-7 heavy chain Potential | PRO_0000016268 | |||||||
| Chain | 648 – 1181 | 534 | Integrin alpha-7 70 kDa form | PRO_0000398833 | |||||||
| Chain | 959 – 1181 | 223 | Integrin alpha-7 light chain Potential | PRO_0000016269 | |||||||
Regions | |||||||||||
| Topological domain | 34 – 1082 | 1049 | Extracellular Potential | ||||||||
| Transmembrane | 1083 – 1103 | 21 | Helical; Potential | ||||||||
| Topological domain | 1104 – 1181 | 78 | Cytoplasmic Potential | ||||||||
| Repeat | 35 – 103 | 69 | FG-GAP 1 | ||||||||
| Repeat | 110 – 175 | 66 | FG-GAP 2 | ||||||||
| Repeat | 185 – 238 | 54 | FG-GAP 3 | ||||||||
| Repeat | 292 – 350 | 59 | FG-GAP 4 | ||||||||
| Repeat | 351 – 411 | 61 | FG-GAP 5 | ||||||||
| Repeat | 412 – 467 | 56 | FG-GAP 6 | ||||||||
| Repeat | 471 – 530 | 60 | FG-GAP 7 | ||||||||
| Repeat | 1157 – 1160 | 4 | 1 | ||||||||
| Repeat | 1165 – 1168 | 4 | 2 | ||||||||
| Repeat | 1173 – 1176 | 4 | 3 | ||||||||
| Calcium binding | 372 – 380 | 9 | Potential | ||||||||
| Calcium binding | 434 – 442 | 9 | Potential | ||||||||
| Calcium binding | 492 – 500 | 9 | Potential | ||||||||
| Region | 1157 – 1176 | 20 | 3 X 4 AA repeats of D-X-H-P | ||||||||
| Motif | 1107 – 1111 | 5 | GFFKR motif | ||||||||
| Compositional bias | 953 – 958 | 6 | Poly-Arg | ||||||||
Sites | |||||||||||
| Site | 647 – 648 | 2 | Cleavage; by urokinase | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 86 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 786 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 989 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1025 | 1 | N-linked (GlcNAc...) Ref.18 | ||||||||
| Glycosylation | 1045 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 94 ↔ 103 | By similarity | |||||||||
| Disulfide bond | 140 ↔ 163 | By similarity | |||||||||
| Disulfide bond | 184 ↔ 197 | By similarity | |||||||||
| Disulfide bond | 539 ↔ 546 | By similarity | |||||||||
| Disulfide bond | 552 ↔ 615 | By similarity | |||||||||
| Disulfide bond | 681 ↔ 687 | By similarity | |||||||||
| Disulfide bond | 781 ↔ 792 | By similarity | |||||||||
| Disulfide bond | 939 ↔ 994 | Interchain (between heavy and light chains) By similarity | |||||||||
| Disulfide bond | 1001 ↔ 1006 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 97 | 97 | Missing in isoform 2. | VSP_040487 | |||||||
| Alternative sequence | 98 – 138 | 41 | LEETD…GGKIV → MAPFATPMVQALTTTRIQRQ AEGFQCWRECGTRRSPFEGK E in isoform 2. | VSP_040488 | |||||||
| Alternative sequence | 224 – 267 | 44 | Missing in isoform Alpha-7X2B. | VSP_002727 | |||||||
| Alternative sequence | 268 – 307 | 40 | Missing in isoform Alpha-7X1B and isoform 2. | VSP_002728 | |||||||
| Alternative sequence | 702 – 776 | 75 | Missing in isoform Alpha-7X2DB. | VSP_042364 | |||||||
| Alternative sequence | 1106 – 1181 | 76 | MGFFK…GPGTA → CGFFHRSSQSSSFPTNYHRA CLAVQPSAMEVGGPGTVGWD SSNGRSTPRPPCPSTMR in isoform Alpha-7X1X2A. | VSP_002730 | |||||||
| Natural variant | 457 | 1 | I → V. Ref.8 Corresponds to variant rs17857367 [ dbSNP | Ensembl ]. | VAR_067015 | |||||||
| Natural variant | 506 | 1 | L → M. Ref.8 Corresponds to variant rs17854599 [ dbSNP | Ensembl ]. | VAR_067016 | |||||||
| Natural variant | 586 | 1 | R → H. Ref.8 Corresponds to variant rs17854598 [ dbSNP | Ensembl ]. | VAR_067017 | |||||||
| Natural variant | 695 | 1 | R → H. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5 Ref.6 Corresponds to variant rs1800974 [ dbSNP | Ensembl ]. | VAR_014759 | |||||||
| Natural variant | 696 | 1 | A → V. Ref.8 Corresponds to variant rs17855684 [ dbSNP | Ensembl ]. | VAR_067018 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 873 | 1 | A → T in AAC18968. Ref.2 | ||||||||
| Sequence conflict | 1005 | 1 | S → I in AAC18968. Ref.2 | ||||||||
| Sequence conflict | 1013 | 1 | R → H in AAH50280. Ref.8 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A novel extracellular domain variant of the human integrin alpha 7 subunit generated by alternative intron splicing." Leung E., Lim S.P., Berg R., Yang Y., Ni J., Wang S.-X., Krissansen G.W. Biochem. Biophys. Res. Commun. 243:317-325(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA-7X2B AND ALPHA-7X2DB), VARIANT HIS-695. Tissue: Fetal heart and Osteoblast. |
| [2] | "Mutations in the integrin alpha7 gene cause congenital myopathy." Hayashi Y.K., Chou F.-L., Engvall E., Ogawa M., Matsuda C., Hirabayashi S., Yokochi K., Ziober B.L., Kramer R.H., Kaufman S.J., Ozawa E., Goto Y., Nonaka I., Tsukahara T., Wang J.Z., Hoffman E.P., Arahata K. Nat. Genet. 19:94-97(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA-7X2B), INVOLVEMENT IN MDCI, VARIANT HIS-695. |
| [3] | "Cloning of human integrin alpha-7 cDNA." Vizirianakis I.S., Ziober B.L., Kramer R.H. Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA-7X2B), VARIANT HIS-695. |
| [4] | "Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7)." Vignier N., Moghadaszadeh B., Gary F., Beckmann J., Mayer U., Guicheney P. Biochem. Biophys. Res. Commun. 260:357-364(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, VARIANT HIS-695. Tissue: Skeletal muscle. |
| [5] | "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. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA-7X1B), VARIANT HIS-695. |
| [6] | "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 2), VARIANT HIS-695. Tissue: Uterus. |
| [7] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "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 ALPHA-7X2B), VARIANTS VAL-457; MET-506; HIS-586 AND VAL-696. Tissue: Brain. |
| [9] | "Expression of alpha 7 integrin cytoplasmic domains during skeletal muscle development: alternate forms, conformational change, and homologies with serine/threonine kinases and tyrosine phosphatases." Song W.K., Wang W., Sato H., Bielser D.A., Kaufman S.J. J. Cell Sci. 106:1139-1152(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1105-1181 (ISOFORMS ALPHA-7X1B/ALPHA-7X2B/ALPHA-7X2DB/ALPHA-7X1X2B/2). Tissue: Fetal muscle. |
| [10] | "Relation between integrin alpha7Bbeta1 expression in human intestinal cells and enterocytic differentiation." Basora N., Vachon P.H., Herring-Gillam F.E., Perreault N., Beaulieu J.-F. Gastroenterology 113:1510-1521(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1105-1181 (ISOFORMS ALPHA-7X1X2B AND ALPHA-7X1X2A). Tissue: Skeletal muscle. |
| [11] | "Laminin-binding integrin alpha 7 beta 1: functional characterization and expression in normal and malignant melanocytes." Kramer R.H., Vu M.P., Cheng Y.F., Ramos D.M., Timpl R., Waleh N. Cell Regul. 2:805-817(1991) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 34-45. Tissue: Melanoma. |
| [12] | "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 34-48. |
| [13] | "The laminin-binding activity of the alpha 7 integrin receptor is defined by developmentally regulated splicing in the extracellular domain." Ziober B.L., Chen Y.Q., Kramer R.H. Mol. Biol. Cell 8:1723-1734(1997) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [14] | "The role of extracellular and cytoplasmic splice domains of alpha7-integrin in cell adhesion and migration on laminins." Schoeber S., Mielenz D., Echtermeyer F., Hapke S., Poeschl E., von der Mark H., Moch H., von der Mark K. Exp. Cell Res. 255:303-313(2000) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [15] | "Synaptic integrins in developing, adult, and mutant muscle: selective association of alpha1, alpha7A, and alpha7B integrins with the neuromuscular junction." Martin P.T., Kaufman S.J., Kramer R.H., Sanes J.R. Dev. Biol. 174:125-139(1996) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [16] | "Laminin-binding integrin alpha7 is required for contractile phenotype expression by human airway myocytes." Tran T., Ens-Blackie K., Rector E.S., Stelmack G.L., McNeill K.D., Tarone G., Gerthoffer W.T., Unruh H., Halayko A.J. Am. J. Respir. Cell Mol. Biol. 37:668-680(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [17] | "Genetically determined proteolytic cleavage modulates alpha7beta1 integrin function." Liu J., Gurpur P.B., Kaufman S.J. J. Biol. Chem. 283:35668-35678(2008) [PubMed] [Europe PMC] [Abstract] Cited for: CLEAVAGE BY UROKINASE. |
| [18] | "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-1025, MASS SPECTROMETRY. Tissue: Liver. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF032108 mRNA. Translation: AAC39708.1. AF052050 mRNA. Translation: AAC18968.1. AF072132 mRNA. Translation: AAC80458.1. AJ228836 AJ228862 Genomic DNA. Translation: CAB41534.1.AJ228836 AJ228862 Genomic DNA. Translation: CAB41535.1.AY358882 mRNA. Translation: AAQ89241.1. AK304864 mRNA. Translation: BAG65602.1. AC009779 Genomic DNA. No translation available. BC050280 mRNA. Translation: AAH50280.1. X74295 mRNA. Translation: CAA52348.1. AF034833 mRNA. Translation: AAB87696.1. |
| IPI | IPI00014478. IPI00216421. IPI00216422. IPI00220748. IPI00220749. IPI00220750. IPI00220751. IPI00220752. IPI00220755. IPI00220756. IPI00220757. IPI00411446. IPI00973410. |
| PIR | JC5950. |
| RefSeq | NP_001138468.1. NM_001144996.1. NP_001138469.1. NM_001144997.1. NP_002197.2. NM_002206.2. |
| UniGene | Hs.524484. |
3D structure databases | |
| ProteinModelPortal | Q13683. |
| SMR | Q13683. Positions 34-662, 824-857. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-5981N. |
| MINT | MINT-140160. |
| STRING | 9606.ENSP00000257879. |
PTM databases | |
| PhosphoSite | Q13683. |
Polymorphism databases | |
| DMDM | 308153592. |
Proteomic databases | |
| PaxDb | Q13683. |
| PRIDE | Q13683. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000257879; ENSP00000257879; ENSG00000135424. ENST00000257880; ENSP00000257880; ENSG00000135424. ENST00000452168; ENSP00000393844; ENSG00000135424. ENST00000553804; ENSP00000452120; ENSG00000135424. ENST00000555728; ENSP00000452387; ENSG00000135424. |
| GeneID | 3679. |
| KEGG | hsa:3679. |
| UCSC | uc001shg.3. human. uc001shh.3. human. uc010sps.2. human. |
Organism-specific databases | |
| CTD | 3679. |
| GeneCards | GC12M056078. |
| H-InvDB | HIX0010702. HIX0201958. |
| HGNC | HGNC:6143. ITGA7. |
| HPA | HPA008427. |
| MIM | 600536. gene. 613204. phenotype. |
| neXtProt | NX_Q13683. |
| Orphanet | 34520. Congenital muscular dystrophy with integrin deficiency. |
| PharmGKB | PA29943. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG26407. |
| HOVERGEN | HBG108011. |
| InParanoid | Q13683. |
| KO | K06583. |
| OMA | TCAHLYE. |
| OrthoDB | EOG4GTKC6. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | arf6_traffickingpathway. Arf6 trafficking events. |
| Reactome | REACT_111102. Signal Transduction. |
| SignaLink | Q13683. |
Gene expression databases | |
| ArrayExpress | Q13683. |
| Bgee | Q13683. |
| CleanEx | HS_ITGA7. |
| Genevestigator | Q13683. |
| GermOnline | ENSG00000135424. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR013517. FG-GAP. IPR013519. Int_alpha_beta-p. IPR000413. Integrin_alpha. IPR013649. Integrin_alpha-2. IPR018184. Integrin_alpha_C_CS. [Graphical view] |
| Pfam | PF01839. FG-GAP. 2 hits. PF08441. Integrin_alpha2. 1 hit. [Graphical view] |
| PRINTS | PR01185. INTEGRINA. |
| SMART | SM00191. Int_alpha. 5 hits. [Graphical view] |
| PROSITE | PS51470. FG_GAP. 7 hits. PS00242. INTEGRIN_ALPHA. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 3679. |
| NextBio | 14399. |
| SOURCE | Search... |
Entry information
| Entry name | ITA7_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13683 Secondary accession number(s): B4E3U0 Q9UEV2 | ||||||||
| 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
