Q9ULD2 (MTUS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 72.
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: Microtubule-associated tumor suppressor 1 Alternative name(s): AT2 receptor-binding protein Angiotensin-II type 2 receptor-interacting protein Mitochondrial tumor suppressor 1 | ||||
| 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 | 1270 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. Isoform 1 inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth. Ref.2 Ref.16 |
| Subunit structure | Homodimer. Interacts with AGTR2. Interacts with PTPN6 By similarity. Isoform 1 associates with microtubules. Ref.3 |
| Subcellular location | Mitochondrion. Golgi apparatus By similarity. Cell membrane By similarity. Nucleus By similarity. Note: In neurons, translocates into the nucleus after treatment with angiotensin-II By similarity. Ref.1 Ref.2 Ref.16 Isoform 1: Cytoplasm › cytoskeleton › centrosome. Cytoplasm › cytoskeleton › spindle. Note: Localizes with the mitotic spindle during mitosis and with the intercellular bridge during cytokinesis. Ref.1 Ref.2 Ref.16 |
| Tissue specificity | Ubiquitously expressed (at protein level). Highly expressed in brain. Down-regulated in ovarian carcinoma, pancreas carcinoma, colon carcinoma and head and neck squamous cell carcinoma (HNSCC). Isoform 1 is the major isoform in most peripheral tissues. Isoform 2 is abundant in most peripheral tissues. Isoform 3 is the major isoform in brain, female reproductive tissues, thyroid and heart. Within brain it is highly expressed in corpus callosum and pons. Isoform 6 is brain-specific, it is the major isoform in cerebellum and fetal brain. Ref.1 Ref.2 Ref.3 Ref.10 Ref.12 Ref.13 Ref.19 |
| Induction | Isoform 1 is down-regulated in invasive breast carcinomas (at protein level). Ref.16 |
| Involvement in disease | Defects in MTUS1 may be a cause of hepatocellular carcinoma (HCC) [MIM:114550]. Ref.18 |
| Sequence similarities | Belongs to the MTUS1 family. |
| Sequence caution | The sequence AAH07328.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAH33842.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB14894.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Cytoplasm Cytoskeleton Golgi apparatus Membrane Microtubule Mitochondrion Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Tumor suppressor |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell microtubuleInferred from electronic annotation. Source: UniProtKB-KW microtubule organizing centerInferred from electronic annotation. Source: UniProtKB-SubCell mitochondrionInferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell spindleInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9ULD2-1) Also known as: ATIP3a; 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: Q9ULD2-2) Also known as: ATIP3b; The sequence of this isoform differs from the canonical sequence as follows: 763-817: GKPTSLKTAQSSWVNLPRPLPKSKASLKSPALRRTGSTPSIASTHSELSTYSNNS → A | ||||||
| Isoform 3 (identifier: Q9ULD2-3) Also known as: ATIP1; The sequence of this isoform differs from the canonical sequence as follows: 1-834: Missing. 835-874: QNGSSGSFYL...RKNLFTALNA → MLLSPKFSLS...FRRSTVVFHT | ||||||
| Isoform 4 (identifier: Q9ULD2-4) The sequence of this isoform differs from the canonical sequence as follows: 1-928: Missing. 929-946: GNTKFEALTVVIQHLLSE → MGCPSSKLCLYSPCAATR | ||||||
| Isoform 5 (identifier: Q9ULD2-5) Also known as: ATIP2; The sequence of this isoform differs from the canonical sequence as follows: 763-770: GKPTSLKT → VLPKAAFS 771-1270: Missing. | ||||||
| Note: Expressed at very low levels in most tissues. | ||||||
| Isoform 6 (identifier: Q9ULD2-6) Also known as: ATIP4; The sequence of this isoform differs from the canonical sequence as follows: 1-753: Missing. 754-817: QRIRRVSSSG...SELSTYSNNS → MTVPGGFRSC...LLATFTGKKT |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1270 | 1270 | Microtubule-associated tumor suppressor 1 | PRO_0000305197 | |||||
Regions | |||||||||
| Coiled coil | 940 – 1231 | 292 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 381 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 443 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 620 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1245 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1255 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1264 | 1 | Phosphoserine Ref.11 Ref.17 | ||||||
| Modified residue | 1266 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1268 | 1 | Phosphoserine Ref.11 Ref.15 Ref.17 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 928 | 928 | Missing in isoform 4. | VSP_028270 | |||||
| Alternative sequence | 1 – 834 | 834 | Missing in isoform 3. | VSP_028271 | |||||
| Alternative sequence | 1 – 753 | 753 | Missing in isoform 6. | VSP_028272 | |||||
| Alternative sequence | 754 – 817 | 64 | QRIRR…YSNNS → MTVPGGFRSCTETDISSKIF INSTLTPPAGSERHYDATLL TLLVVGSYSLCIIPLLATFT GKKT in isoform 6. | VSP_028273 | |||||
| Alternative sequence | 763 – 817 | 55 | GKPTS…YSNNS → A in isoform 2. | VSP_028274 | |||||
| Alternative sequence | 763 – 770 | 8 | GKPTSLKT → VLPKAAFS in isoform 5. | VSP_028275 | |||||
| Alternative sequence | 771 – 1270 | 500 | Missing in isoform 5. | VSP_028276 | |||||
| Alternative sequence | 835 – 874 | 40 | QNGSS…TALNA → MLLSPKFSLSTIHIRLTAKG LLRNLRLPSGFRRSTVVFHT in isoform 3. | VSP_028277 | |||||
| Alternative sequence | 929 – 946 | 18 | GNTKF…HLLSE → MGCPSSKLCLYSPCAATR in isoform 4. | VSP_028278 | |||||
| Natural variant | 75 | 1 | Q → K in HCC. Ref.18 | VAR_035173 | |||||
| Natural variant | 148 | 1 | C → R. Ref.6 Ref.7 Ref.8 Ref.18 Ref.19 Corresponds to variant rs3739407 [ dbSNP | Ensembl ]. | VAR_035174 | |||||
| Natural variant | 186 | 1 | T → S in HNSCC cell lines. Ref.19 | VAR_035175 | |||||
| Natural variant | 425 | 1 | T → M. Ref.18 | VAR_035176 | |||||
| Natural variant | 453 | 1 | K → T. Ref.18 Ref.19 Corresponds to variant rs17690844 [ dbSNP | Ensembl ]. | VAR_035177 | |||||
| Natural variant | 563 | 1 | A → S in HCC. Ref.18 | VAR_035178 | |||||
| Natural variant | 575 | 1 | H → R. Ref.8 Ref.18 Corresponds to variant rs209569 [ dbSNP | Ensembl ]. | VAR_035179 | |||||
| Natural variant | 873 | 1 | N → H in HCC. Ref.18 | VAR_035180 | |||||
| Natural variant | 911 | 1 | K → T. Ref.18 | VAR_035181 | |||||
| Natural variant | 1063 | 1 | K → T. Ref.7 Corresponds to variant rs17853231 [ dbSNP | Ensembl ]. | VAR_035182 | |||||
| Natural variant | 1105 | 1 | E → Q. Ref.18 | VAR_035183 | |||||
| Natural variant | 1201 | 1 | Q → R in HCC. Ref.18 | VAR_035184 | |||||
Experimental info | |||||||||
| Sequence conflict | 266 | 1 | C → G in CAB50791. Ref.5 | ||||||
| Sequence conflict | 918 | 1 | F → L in BAG37243. Ref.4 | ||||||
| Sequence conflict | 999 | 1 | E → G in CAH56128. Ref.5 | ||||||
| Sequence conflict | 1149 | 1 | I → T in BAB14894. Ref.4 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning and characterization of two novel genes on chromosome 8p21.3." Kinjo T., Isomura M., Iwamasa T., Nakamura Y. J. Hum. Genet. 45:12-17(2000) [PubMed: 10697957] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION. |
| [2] | "Identification of a new tumor suppressor gene located at chromosome 8p21.3-22." Seibold S., Rudroff C., Weber M., Galle J., Wanner C., Marx M. FASEB J. 17:1180-1182(2003) [PubMed: 12692079] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION. |
| [3] | "Trans-inactivation of receptor tyrosine kinases by novel angiotensin II AT2 receptor-interacting protein, ATIP." Nouet S., Amzallag N., Li J.-M., Louis S., Seitz I., Cui T.-X., Alleaume A.-M., Di Benedetto M., Boden C., Masson M., Strosberg A.D., Horiuchi M., Couraud P.-O., Nahmias C. J. Biol. Chem. 279:28989-28997(2004) [PubMed: 15123706] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), ALTERNATIVE SPLICING (ISOFORMS 1; 5 AND 6), SUBUNIT, TISSUE SPECIFICITY. Tissue: Lung. |
| [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] (ISOFORMS 3 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 875-1270 (ISOFORM 1). Tissue: Brain, Fetal brain and Placenta. |
| [5] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 266-1270 (ISOFORM 5). Tissue: Salivary gland and Uterus. |
| [6] | 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-148. |
| [7] | "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] (ISOFORMS 1 AND 3), VARIANTS ARG-148 AND THR-1063. Tissue: Ovary, Skin and Testis. |
| [8] | "Differential expression in normal trophoblast and gestational tumors." Abadie P.A., Genti-Raimondi S. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-891 (ISOFORM 2), VARIANTS ARG-148 AND ARG-575. |
| [9] | "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed: 10574462] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-1270 (ISOFORM 1). Tissue: Brain. |
| [10] | "Five genes from chromosomal band 8p22 are significantly down-regulated in ovarian carcinoma: N33 and EFA6R have a potential impact on overall survival." Pils D., Horak P., Gleiss A., Sax C., Fabjani G., Moebus V.J., Zielinski C., Reinthaller A., Zeillinger R., Krainer M. Cancer 104:2417-2429(2005) [PubMed: 16270321] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [11] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1264 AND SER-1268, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "Structural organization and expression of human MTUS1, a candidate 8p22 tumor suppressor gene encoding a family of angiotensin II AT2 receptor-interacting proteins, ATIP." Di Benedetto M., Bieche I., Deshayes F., Vacher S., Nouet S., Collura V., Seitz I., Louis S., Pineau P., Amsellem-Ouazana D., Couraud P.-O., Strosberg A.D., Stoppa-Lyonnet D., Lidereau R., Nahmias C. Gene 380:127-136(2006) [PubMed: 16887298] [Abstract] Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY. |
| [13] | "Differential expression in normal-adenoma-carcinoma sequence suggests complex molecular carcinogenesis in colon." Lee S., Bang S., Song K., Lee I. Oncol. Rep. 16:747-754(2006) [PubMed: 16969489] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [14] | "Phosphoproteome analysis of the human mitotic spindle." Nousiainen M., Sillje H.H.W., Sauer G., Nigg E.A., Koerner R. Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006) [PubMed: 16565220] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-443, MASS SPECTROMETRY. Tissue: Cervix adenocarcinoma. |
| [15] | "Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1268, MASS SPECTROMETRY. |
| [16] | "8p22 MTUS1 gene product ATIP3 is a novel anti-mitotic protein underexpressed in invasive breast carcinoma of poor prognosis." Rodrigues-Ferreira S., Di Tommaso A., Dimitrov A., Cazaubon S., Gruel N., Colasson H., Nicolas A., Chaverot N., Molinie V., Reyal F., Sigal-Zafrani B., Terris B., Delattre O., Radvanyi F., Perez F., Vincent-Salomon A., Nahmias C. PLoS ONE 4:E7239-E7239(2009) [PubMed: 19794912] [Abstract] Cited for: FUNCTION, ASSOCIATION WITH MICROTUBULES, SUBCELLULAR LOCATION, INDUCTION. |
| [17] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1264 AND SER-1268, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [18] | "Mutation analysis of the 8p22 candidate tumor suppressor gene ATIP/MTUS1 in hepatocellular carcinoma." Di Benedetto M., Pineau P., Nouet S., Berhouet S., Seitz I., Louis S., Dejean A., Couraud P.-O., Strosberg A.D., Stoppa-Lyonnet D., Nahmias C. Mol. Cell. Endocrinol. 252:207-215(2006) [PubMed: 16650523] [Abstract] Cited for: VARIANTS HCC LYS-75; SER-563; HIS-873 AND ARG-1201, VARIANTS ARG-148; MET-425; THR-453; ARG-575; THR-911 AND GLN-1105. |
| [19] | "Genomic assessments of the frequent loss of heterozygosity region on 8p21.3 approximately p22 in head and neck squamous cell carcinoma." Ye H., Pungpravat N., Huang B.-L., Muzio L.L., Mariggio M.A., Chen Z., Wong D.T., Zhou X. Cancer Genet. Cytogenet. 176:100-106(2007) [PubMed: 17656251] [Abstract] Cited for: VARIANTS ARG-148 AND THR-453, VARIANT HNSCC SER-186, TISSUE SPECIFICITY. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF121259 mRNA. Translation: AAG33674.1. AF293357 mRNA. Translation: AAL37035.1. AK024357 mRNA. Translation: BAB14894.1. Different initiation. AK125188 mRNA. Translation: BAG54161.1. AK289750 mRNA. Translation: BAF82439.1. AK314692 mRNA. Translation: BAG37243.1. AL096842 mRNA. Translation: CAB50791.1. BX648879 mRNA. Translation: CAH56128.1. CH471080 Genomic DNA. Translation: EAW63804.1. CH471080 Genomic DNA. Translation: EAW63805.1. CH471080 Genomic DNA. Translation: EAW63810.1. BC007328 mRNA. Translation: AAH07328.1. Sequence problems. BC033842 mRNA. Translation: AAH33842.1. Different initiation. BC136320 mRNA. Translation: AAI36321.1. BC142971 mRNA. Translation: AAI42972.1. AY363099 mRNA. Translation: AAQ24172.1. AB033114 mRNA. Translation: BAA86602.1. |
| IPI | IPI00102820. IPI00428447. IPI00428450. IPI00470640. IPI00472533. IPI00867528. |
| RefSeq | NP_001001924.1. NM_001001924.2. NP_001001925.1. NM_001001925.2. NP_001001931.1. NM_001001931.2. NP_001159865.1. NM_001166393.1. NP_065800.1. NM_020749.4. |
| UniGene | Hs.7946. |
3D structure databases | |
| ProteinModelPortal | Q9ULD2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9ULD2. 2 interactions. |
| STRING | Q9ULD2. |
PTM databases | |
| PhosphoSite | Q9ULD2. |
Polymorphism databases | |
| DMDM | 158706128. |
Proteomic databases | |
| PRIDE | Q9ULD2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000262102; ENSP00000262102; ENSG00000129422. |
| GeneID | 57509. |
| KEGG | hsa:57509. |
| UCSC | uc003wxs.1. human. uc003wxt.1. human. uc003wxv.1. human. uc003wxw.1. human. uc010lsz.1. human. |
Organism-specific databases | |
| CTD | 57509. |
| GeneCards | GC08M017501. |
| HGNC | HGNC:29789. MTUS1. |
| MIM | 114550. phenotype. 609589. gene. |
| neXtProt | NX_Q9ULD2. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG09306. |
| GeneTree | ENSGT00390000006245. |
| HOVERGEN | HBG108158. |
| InParanoid | Q9ULD2. |
| OMA | SDVVMQT. |
Gene expression databases | |
| ArrayExpress | Q9ULD2. |
| Bgee | Q9ULD2. |
| CleanEx | HS_MTUS1. |
| Genevestigator | Q9ULD2. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| NextBio | 63856. |
| SOURCE | Search... |
Entry information
| Entry name | MTUS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9ULD2 Secondary accession number(s): A8K135 Q9H7T2 | ||||||||
| 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 8 Human chromosome 8: 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