Reviewed,
UniProtKB/Swiss-Prot O76064 (RNF8_HUMAN)
Last modified
June 16, 2009.
Version 92.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
Third-party data |
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Names and origin
| Protein names | Recommended name: E3 ubiquitin-protein ligase RNF8 EC=6.3.2.- Alternative name(s): RING finger protein 8 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 485 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | E3 ubiquitin-protein ligase required for assembly of repair proteins to sites of DNA damage. Catalyzes the 'Lys-63'-linked ubiquitination of histone H2A and H2AX. Following DNA double-strand breaks (DSBs), it is recruited to the sites of damage by ATM-phosphorylated MDC1, mediates the ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF). Promotes the formation of 'Lys-63'-linked polyubiquitin chains and functions with the specific ubiquitin-conjugating UBC13 (UBE2N). Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation. Enforces the G2/M DNA damage checkpoint. Controls the recruitment of UIMC1-BRCC3 (RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites following DNA double-strand breaks (DSBs). Ubiquitination of histone H2A requires UBC13 but not MMS2 (UBE2V2). May also ubiquitinate histone H2B. Catalyzes the 'Lys-63'-linked ubiquitination of PCNA. May be required for proper exit from mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2. Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.26 |
| Pathway | |
| Subunit structure | Interacts with class III E2s, including UBE2E1, UBE2E2, and UBE2E3 and with UBE2N. Interacts with RXRA. Interacts with ATM-phosphorylated MDC1. Ref.10 Ref.11 Ref.12 Ref.14 Ref.2 Ref.18 |
| Subcellular location | Nucleus. Note: Following DNA double-strand breaks, recruited to the sites of damage. During prophase, concomitant with nuclear envelope breakdown, localizes throughout the cell, with a dotted pattern. In telophase, again in the nucleus and also with a discrete dotted pattern in the cytoplasm. In late telophase and during cytokinesis, localizes in the midbody of the tubulin bridge joining the daughter cells. Does not seem to be associated with condensed chromosomes at any time during the cell cycle. Ref.10 Ref.11 Ref.12 Ref.13 Ref.22 Ref.26 Ref.2 |
| Tissue specificity | Ubiquitous. In fetal tissues, highest expression in brain, thymus and liver. In adult tissues, highest levels in brain and testis, lowest levels in peripheral blood cells. Ref.2 Ref.1 |
| Developmental stage | Low levels at the G1-S boundary increase in intensity during S phase and until the end of the G2 phase. Abruptly decreases in late mitosis (at protein level). Barely detectable in anaphase. Ref.15 |
| Domain | The FHA domain specifically recognizes and binds ATM-phosphorylated MDC1. |
| Post-translational modification | Autoubiquitinated through 'Lys-48' and 'Lys-63' of ubiquitin. 'Lys-63' polyubiquitination is mediated by UBE2N. 'Lys-29'-type polyubiquitination is also observed, but it doesn't require its own functional RING-type zinc finger. |
| Sequence similarities | Belongs to the RNF8 family. Contains 1 FHA domain. Contains 1 RING-type zinc finger. |
| Sequence caution | The sequence EAX03945.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| EXOSC2 | Q13868 | 1 | EBI-373337,EBI-301735 | |
| MDC1 | Q14676 | 5 | EBI-373337,EBI-495644 | |
| ORC2L | Q13416 | 1 | EBI-373337,EBI-374957 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O76064-1) 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: O76064-2) The sequence of this isoform differs from the canonical sequence as follows: 1-80: MGEPGFFVTG...EGQWTIMDNK → MKLISSFFHFPQ | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 485 | 485 | E3 ubiquitin-protein ligase RNF8 | PRO_0000056048 | ||||||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||||||
| Domain | 38 – 92 | 55 | FHA | |||||||||||||||||||||||||||
| Zinc finger | 403 – 441 | 39 | RING-type | |||||||||||||||||||||||||||
| Compositional bias | 276 – 345 | 70 | Gln-rich | |||||||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||||||
| Modified residue | 157 | 1 | Phosphoserine Ref.19 | |||||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||||
| Alternative sequence | 1 – 80 | 80 | MGEPG…IMDNK → MKLISSFFHFPQ in isoform 2. | VSP_036671 | ||||||||||||||||||||||||||
| Natural variant | 162 | 1 | A → T: dbSNP rs34338974. | VAR_052096 | ||||||||||||||||||||||||||
| Natural variant | 473 | 1 | I → V: dbSNP rs1139944. | VAR_052097 | ||||||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||||||
| Mutagenesis | 42 | 1 | R → A: Abolishes interaction with ATM-phosphorylated MDC1. Ref.12 | |||||||||||||||||||||||||||
| Mutagenesis | 403 | 1 | C → S: Marked reduction of E2-dependent ubiquitination of histone H2A. Loss of UBE2E2- and UBE2N-binding. Loss of nuclear localization. Ref.10 Ref.11 Ref.12 Ref.2 | |||||||||||||||||||||||||||
| Sequence conflict | 230 | 1 | V → A in BAD96485. Ref.6 | |||||||||||||||||||||||||||
| Sequence conflict | 334 | 1 | K → R in BAD96485. Ref.6 | |||||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||||
| Beta strand | 15 – 20 | 6 | ||||||||||||||||||||||||||||
| Beta strand | 29 – 31 | 3 | ||||||||||||||||||||||||||||
| Beta strand | 38 – 43 | 6 | ||||||||||||||||||||||||||||
| Beta strand | 46 – 49 | 4 | ||||||||||||||||||||||||||||
| Helix | 56 – 58 | 3 | ||||||||||||||||||||||||||||
| Beta strand | 64 – 68 | 5 | ||||||||||||||||||||||||||||
| Beta strand | 74 – 80 | 7 | ||||||||||||||||||||||||||||
| Beta strand | 85 – 89 | 5 | ||||||||||||||||||||||||||||
| Beta strand | 106 – 109 | 4 | ||||||||||||||||||||||||||||
| Beta strand | 124 – 128 | 5 | ||||||||||||||||||||||||||||
| Helix | 129 – 132 | 4 | ||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation, tissue expression, and chromosomal assignment of a novel human gene which encodes a protein with RING finger motif." Seki N., Hattori A., Sugano S., Suzuki Y., Nakagawara A., Ohhira M., Muramatsu M., Hori T., Saito T. J. Hum. Genet. 43:272-274(1998) [PubMed: 9852682] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY. Tissue: Brain. |
| [2] | "The RING finger protein RNF8 recruits UBC13 for lysine 63-based self polyubiquitylation." Plans V., Scheper J., Soler M., Loukili N., Okano Y., Thomson T.M. J. Cell. Biochem. 97:572-582(2006) [PubMed: 16215985] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH UBE2E2 AND UBE2N, AUTOUBIQUITINATION, MUTAGENESIS OF CYS-403. Tissue: Fetal brain. |
| [3] | "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed: 9734811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [4] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney. |
| [5] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [6] | Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Hepatoma. |
| [7] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | 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. 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Muscle. |
| [10] | "N-terminally extended human ubiquitin-conjugating enzymes (E2s) mediate the ubiquitination of RING-finger proteins, ARA54 and RNF8." Ito K., Adachi S., Iwakami R., Yasuda H., Muto Y., Seki N., Okano Y. Eur. J. Biochem. 268:2725-2732(2001) [PubMed: 11322894] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH UBE2E1; UBE2E2 AND UBE2E3, MUTAGENESIS OF CYS-403. |
| [11] | "The RING finger protein, RNF8, interacts with retinoid X receptor alpha and enhances its transcription-stimulating activity." Takano Y., Adachi S., Okuno M., Muto Y., Yoshioka T., Matsushima-Nishiwaki R., Tsurumi H., Ito K., Friedman S.L., Moriwaki H., Kojima S., Okano Y. J. Biol. Chem. 279:18926-18934(2004) [PubMed: 14981089] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH RXRA, MUTAGENESIS OF CYS-403. |
| [12] | "RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins." Mailand N., Bekker-Jensen S., Faustrup H., Melander F., Bartek J., Lukas C., Lukas J. Cell 131:887-900(2007) [PubMed: 18001824] [Abstract] Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, INTERACTION WITH MDC1, MUTAGENESIS OF ARG-42 AND CYS-403. |
| [13] | "Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage." Wang B., Elledge S.J. Proc. Natl. Acad. Sci. U.S.A. 104:20759-20763(2007) [PubMed: 18077395] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
| [14] | "Orchestration of the DNA-damage response by the RNF8 ubiquitin ligase." Kolas N.K., Chapman J.R., Nakada S., Ylanko J., Chahwan R., Sweeney F.D., Panier S., Mendez M., Wildenhain J., Thomson T.M., Pelletier L., Jackson S.P., Durocher D. Science 318:1637-1640(2007) [PubMed: 18006705] [Abstract] Cited for: FUNCTION, INTERACTION WITH MDC1. |
| [15] | "Regulation of mitotic exit by the RNF8 ubiquitin ligase." Plans V., Guerra-Rebollo M., Thomson T.M. Oncogene 27:1355-1365(2008) [PubMed: 17724460] [Abstract] Cited for: FUNCTION, DEVELOPMENTAL STAGE. |
| [16] | "PCNA is ubiquitinated by RNF8." Zhang S., Chea J., Meng X., Zhou Y., Lee E.Y.C., Lee M.Y.W.T. Cell Cycle 7:3399-3404(2008) [PubMed: 18948756] [Abstract] Cited for: FUNCTION. |
| [17] | "RNF8-dependent and RNF8-independent regulation of 53BP1 in response to DNA damage." Sakasai R., Tibbetts R. J. Biol. Chem. 283:13549-13555(2008) [PubMed: 18337245] [Abstract] Cited for: FUNCTION. |
| [18] | "Noncanonical E2 variant-independent function of UBC13 in promoting checkpoint protein assembly." Huen M.S.Y., Huang J., Yuan J., Yamamoto M., Akira S., Ashley C., Xiao W., Chen J. Mol. Cell. Biol. 28:6104-6112(2008) [PubMed: 18678647] [Abstract] Cited for: INTERACTION WITH UBE2N. |
| [19] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-157, MASS SPECTROMETRY. |
| [20] | "The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage." Stewart G.S., Panier S., Townsend K., Al-Hakim A.K., Kolas N.K., Miller E.S., Nakada S., Ylanko J., Olivarius S., Mendez M., Oldreive C., Wildenhain J., Tagliaferro A., Pelletier L., Taubenheim N., Durandy A., Byrd P.J., Stankovic T., Taylor A.M.R., Durocher D. Cell 136:420-434(2009) [PubMed: 19203578] [Abstract] Cited for: FUNCTION. |
| [21] | "RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins." Doil C., Mailand N., Bekker-Jensen S., Menard P., Larsen D.H., Pepperkok R., Ellenberg J., Panier S., Durocher D., Bartek J., Lukas J., Lukas C. Cell 136:435-446(2009) [PubMed: 19203579] [Abstract] Cited for: FUNCTION. |
| [22] | "Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage." Gong Z., Cho Y.-W., Kim J.-E., Ge K., Chen J. J. Biol. Chem. 284:7284-7293(2009) [PubMed: 19124460] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
| [23] | "Histone ubiquitination associates with BRCA1-dependent DNA damage response." Wu J., Huen M.S.Y., Lu L.-Y., Ye L., Dou Y., Ljungman M., Chen J., Yu X. Mol. Cell. Biol. 29:849-860(2009) [PubMed: 19015238] [Abstract] Cited for: FUNCTION. |
| [24] | "The Rap80-BRCC36 de-ubiquitinating enzyme complex antagonizes RNF8-Ubc13-dependent ubiquitination events at DNA double strand breaks." Shao G., Lilli D.R., Patterson-Fortin J., Coleman K.A., Morrissey D.E., Greenberg R.A. Proc. Natl. Acad. Sci. U.S.A. 106:3166-3171(2009) [PubMed: 19202061] [Abstract] Cited for: FUNCTION. |
| [25] | "Solution structure of the FHA domain of human ubiquitin ligase protein RNF8." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2005) to the PDB data bank Cited for: STRUCTURE BY NMR OF 8-139. |
| [26] | "RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly." Huen M.S.Y., Grant R., Manke I., Minn K., Yu X., Yaffe M.B., Chen J. Cell 131:901-914(2007) [PubMed: 18001825] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.35 ANGSTROMS) OF 13-146 IN COMPLEX WITH PHOSPHOPEPTIDE, FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AF334675 mRNA. Translation: AAQ14887.1. AB012770 Genomic DNA. Translation: BAA33557.1. AB014546 mRNA. Translation: BAA31621.2. Different initiation. AK298319 mRNA. Translation: BAG60572.1. BT007446 mRNA. Translation: AAP36114.1. AK222765 mRNA. Translation: BAD96485.1. AL096712 Genomic DNA. Translation: CAB75689.1. CH471081 Genomic DNA. Translation: EAX03944.1. CH471081 Genomic DNA. Translation: EAX03945.1. Sequence problems. BC007517 mRNA. Translation: AAH07517.1. | |||||||||||||||||||
| IPI | IPI00022561. IPI00923427. | ||||||||||||||||||
| RefSeq | NP_003949.1. NP_898901.1. | ||||||||||||||||||
| UniGene | Hs.485278 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| |||||||||||||||||||
| SMR | O76064. Positions 8-140. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | O76064. 13 interactions. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | O76064. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PRIDE | O76064. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENSG00000112130. Homo sapiens. [Contig view] | ||||||||||||||||||
| GeneID | 9025. | ||||||||||||||||||
| KEGG | hsa:9025. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| GeneCards | GC06P037429. | ||||||||||||||||||
| H-InvDB | HIX0005839. | ||||||||||||||||||
| HGNC | HGNC:10071. RNF8. | ||||||||||||||||||
| MIM | 611685. gene. | ||||||||||||||||||
| PharmGKB | PA34445. | ||||||||||||||||||
| HUGE | Search... | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOGENOM | O76064. | ||||||||||||||||||
| HOVERGEN | O76064. | ||||||||||||||||||
| OMA | O76064. VGMSAGW. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | O76064. | ||||||||||||||||||
| Bgee | O76064. | ||||||||||||||||||
| CleanEx | HS_RNF8. | ||||||||||||||||||
| GermOnline | ENSG00000112130. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR017335. E3_Ub_ligase_RNF8. IPR000253. FHA. IPR018957. Znf_C3HC4_RING-type. IPR001841. Znf_RING. IPR017907. Znf_RING_CS. [Graphical view] | ||||||||||||||||||
| Gene3D | G3DSA:2.60.200.20. FHA. 1 hit. | ||||||||||||||||||
| Pfam | PF00498. FHA. 1 hit. PF00097. zf-C3HC4. 1 hit. [Graphical view] | ||||||||||||||||||
| PIRSF | PIRSF037950. E3_ubiquit_lig_RNF8. 1 hit. | ||||||||||||||||||
| SMART | SM00240. FHA. 1 hit. SM00184. RING. 1 hit. [Graphical view] | ||||||||||||||||||
| PROSITE | PS50006. FHA_DOMAIN. 1 hit. PS00518. ZF_RING_1. 1 hit. PS50089. ZF_RING_2. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| NextBio | 33813. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | RNF8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O76064 Secondary accession number(s): A6NN24 Q5NKW5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 6 Human chromosome 6: 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 |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


