Reviewed,
UniProtKB/Swiss-Prot Q7Z408 (CSMD2_HUMAN)
Last modified
January 19, 2010.
Version 69.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: CUB and sushi domain-containing protein 2 Alternative name(s): CUB and sushi multiple domains protein 2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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 | 3487 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subcellular location | Cell membrane; Single-pass membrane protein Potential. |
| Tissue specificity | Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain. Overexpressed in some head and neck cancer cell lines. Ref.1 Ref.5 |
| Sequence similarities | Belongs to the CSMD family. Contains 14 CUB domains. Contains 26 Sushi (CCP/SCR) domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Sushi Transmembrane |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Direct protein sequencing |
| Gene Ontology (GO) | |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ABL1 | P00519 | 1 | EBI-1957312,EBI-375543 | |
| CRK | P46108 | 1 | EBI-1957312,EBI-886 | |
| FYN | P06241 | 1 | EBI-1957312,EBI-515315 | |
| NCK1 | P16333 | 1 | EBI-1957312,EBI-389883 | |
| PLCG1 | P19174 | 1 | EBI-1957312,EBI-79387 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q7Z408-1) 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: Q7Z408-2) The sequence of this isoform differs from the canonical sequence as follows: 1-1087: Missing. 1088-1095: SSPLPRCV → MVIVILFP 2075-2116: Missing. 2288-2296: AYPLTKCPP → GHLAAVCTL 2297-3487: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q7Z408-3) The sequence of this isoform differs from the canonical sequence as follows: 1-403: Missing. 443-443: V → VGGDPGNIQCNKEGLSVETQSLRLRNRSCLLGNSKDNGCCVPNPVHGTGLQV 576-577: FS → CK 578-3487: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 3487 | 3487 | CUB and sushi domain-containing protein 2 | PRO_0000079405 | |||||||
Regions | |||||||||||
| Topological domain | 1 – 3408 | 3408 | Extracellular Potential | ||||||||
| Transmembrane | 3409 – 3429 | 21 | Potential | ||||||||
| Topological domain | 3430 – 3487 | 58 | Cytoplasmic Potential | ||||||||
| Domain | 26 – 134 | 109 | CUB 1 | ||||||||
| Domain | 137 – 198 | 62 | Sushi 1 | ||||||||
| Domain | 202 – 306 | 105 | CUB 2 | ||||||||
| Domain | 341 – 402 | 62 | Sushi 2 | ||||||||
| Domain | 405 – 516 | 112 | CUB 3 | ||||||||
| Domain | 519 – 576 | 58 | Sushi 3 | ||||||||
| Domain | 578 – 686 | 109 | CUB 4 | ||||||||
| Domain | 689 – 750 | 62 | Sushi 4 | ||||||||
| Domain | 752 – 860 | 109 | CUB 5 | ||||||||
| Domain | 865 – 922 | 58 | Sushi 5 | ||||||||
| Domain | 924 – 1034 | 111 | CUB 6 | ||||||||
| Domain | 1037 – 1096 | 60 | Sushi 6 | ||||||||
| Domain | 1098 – 1206 | 109 | CUB 7 | ||||||||
| Domain | 1209 – 1269 | 61 | Sushi 7 | ||||||||
| Domain | 1271 – 1380 | 110 | CUB 8 | ||||||||
| Domain | 1383 – 1443 | 61 | Sushi 8 | ||||||||
| Domain | 1445 – 1553 | 109 | CUB 9 | ||||||||
| Domain | 1556 – 1617 | 62 | Sushi 9 | ||||||||
| Domain | 1619 – 1727 | 109 | CUB 10 | ||||||||
| Domain | 1733 – 1794 | 62 | Sushi 10 | ||||||||
| Domain | 1796 – 1904 | 109 | CUB 11 | ||||||||
| Domain | 1907 – 1966 | 60 | Sushi 11 | ||||||||
| Domain | 1968 – 2076 | 109 | CUB 12 | ||||||||
| Domain | 2121 – 2180 | 60 | Sushi 12 | ||||||||
| Domain | 2182 – 2293 | 112 | CUB 13 | ||||||||
| Domain | 2292 – 2353 | 62 | Sushi 13 | ||||||||
| Domain | 2355 – 2466 | 112 | CUB 14 | ||||||||
| Domain | 2466 – 2528 | 63 | Sushi 14 | ||||||||
| Domain | 2529 – 2590 | 62 | Sushi 15 | ||||||||
| Domain | 2591 – 2655 | 65 | Sushi 16 | ||||||||
| Domain | 2656 – 2713 | 58 | Sushi 17 | ||||||||
| Domain | 2714 – 2771 | 58 | Sushi 18 | ||||||||
| Domain | 2772 – 2829 | 58 | Sushi 19 | ||||||||
| Domain | 2833 – 2890 | 58 | Sushi 20 | ||||||||
| Domain | 2891 – 2949 | 59 | Sushi 21 | ||||||||
| Domain | 2950 – 3009 | 60 | Sushi 22 | ||||||||
| Domain | 3010 – 3067 | 58 | Sushi 23 | ||||||||
| Domain | 3068 – 3125 | 58 | Sushi 24 | ||||||||
| Domain | 3129 – 3187 | 59 | Sushi 25 | ||||||||
| Domain | 3188 – 3247 | 60 | Sushi 26 | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 25 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 34 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 51 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 581 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 680 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 949 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 983 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1009 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1028 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1158 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1178 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1194 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1393 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1566 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1638 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1786 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1799 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1876 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2012 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2185 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2190 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2223 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2394 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2430 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2731 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2809 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2878 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2937 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2971 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3001 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3055 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3143 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3175 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3307 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3407 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 26 ↔ 52 | By similarity | |||||||||
| Disulfide bond | 139 ↔ 179 | By similarity | |||||||||
| Disulfide bond | 165 ↔ 196 | By similarity | |||||||||
| Disulfide bond | 202 ↔ 228 | By similarity | |||||||||
| Disulfide bond | 343 ↔ 383 | By similarity | |||||||||
| Disulfide bond | 369 ↔ 400 | By similarity | |||||||||
| Disulfide bond | 405 ↔ 431 | By similarity | |||||||||
| Disulfide bond | 521 ↔ 561 | By similarity | |||||||||
| Disulfide bond | 547 ↔ 574 | By similarity | |||||||||
| Disulfide bond | 578 ↔ 604 | By similarity | |||||||||
| Disulfide bond | 691 ↔ 732 | By similarity | |||||||||
| Disulfide bond | 717 ↔ 748 | By similarity | |||||||||
| Disulfide bond | 752 ↔ 778 | By similarity | |||||||||
| Disulfide bond | 867 ↔ 907 | By similarity | |||||||||
| Disulfide bond | 893 ↔ 920 | By similarity | |||||||||
| Disulfide bond | 924 ↔ 950 | By similarity | |||||||||
| Disulfide bond | 1039 ↔ 1079 | By similarity | |||||||||
| Disulfide bond | 1065 ↔ 1094 | By similarity | |||||||||
| Disulfide bond | 1098 ↔ 1124 | By similarity | |||||||||
| Disulfide bond | 1211 ↔ 1252 | By similarity | |||||||||
| Disulfide bond | 1238 ↔ 1267 | By similarity | |||||||||
| Disulfide bond | 1271 ↔ 1298 | By similarity | |||||||||
| Disulfide bond | 1385 ↔ 1425 | By similarity | |||||||||
| Disulfide bond | 1411 ↔ 1441 | By similarity | |||||||||
| Disulfide bond | 1445 ↔ 1471 | By similarity | |||||||||
| Disulfide bond | 1558 ↔ 1598 | By similarity | |||||||||
| Disulfide bond | 1584 ↔ 1615 | By similarity | |||||||||
| Disulfide bond | 1619 ↔ 1645 | By similarity | |||||||||
| Disulfide bond | 1735 ↔ 1775 | By similarity | |||||||||
| Disulfide bond | 1761 ↔ 1792 | By similarity | |||||||||
| Disulfide bond | 1796 ↔ 1822 | By similarity | |||||||||
| Disulfide bond | 1909 ↔ 1949 | By similarity | |||||||||
| Disulfide bond | 1935 ↔ 1964 | By similarity | |||||||||
| Disulfide bond | 1968 ↔ 1994 | By similarity | |||||||||
| Disulfide bond | 2123 ↔ 2163 | By similarity | |||||||||
| Disulfide bond | 2149 ↔ 2178 | By similarity | |||||||||
| Disulfide bond | 2182 ↔ 2208 | By similarity | |||||||||
| Disulfide bond | 2294 ↔ 2336 | By similarity | |||||||||
| Disulfide bond | 2322 ↔ 2351 | By similarity | |||||||||
| Disulfide bond | 2355 ↔ 2383 | By similarity | |||||||||
| Disulfide bond | 2468 ↔ 2509 | By similarity | |||||||||
| Disulfide bond | 2495 ↔ 2526 | By similarity | |||||||||
| Disulfide bond | 2531 ↔ 2573 | By similarity | |||||||||
| Disulfide bond | 2557 ↔ 2588 | By similarity | |||||||||
| Disulfide bond | 2593 ↔ 2638 | By similarity | |||||||||
| Disulfide bond | 2624 ↔ 2653 | By similarity | |||||||||
| Disulfide bond | 2658 ↔ 2698 | By similarity | |||||||||
| Disulfide bond | 2684 ↔ 2711 | By similarity | |||||||||
| Disulfide bond | 2716 ↔ 2756 | By similarity | |||||||||
| Disulfide bond | 2742 ↔ 2769 | By similarity | |||||||||
| Disulfide bond | 2774 ↔ 2814 | By similarity | |||||||||
| Disulfide bond | 2800 ↔ 2827 | By similarity | |||||||||
| Disulfide bond | 2835 ↔ 2875 | By similarity | |||||||||
| Disulfide bond | 2861 ↔ 2888 | By similarity | |||||||||
| Disulfide bond | 2893 ↔ 2934 | By similarity | |||||||||
| Disulfide bond | 2920 ↔ 2947 | By similarity | |||||||||
| Disulfide bond | 2952 ↔ 2994 | By similarity | |||||||||
| Disulfide bond | 2978 ↔ 3007 | By similarity | |||||||||
| Disulfide bond | 3012 ↔ 3052 | By similarity | |||||||||
| Disulfide bond | 3038 ↔ 3065 | By similarity | |||||||||
| Disulfide bond | 3070 ↔ 3110 | By similarity | |||||||||
| Disulfide bond | 3096 ↔ 3123 | By similarity | |||||||||
| Disulfide bond | 3131 ↔ 3172 | By similarity | |||||||||
| Disulfide bond | 3158 ↔ 3185 | By similarity | |||||||||
| Disulfide bond | 3190 ↔ 3232 | By similarity | |||||||||
| Disulfide bond | 3217 ↔ 3245 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 1087 | 1087 | Missing in isoform 2. | VSP_009038 | |||||||
| Alternative sequence | 1 – 403 | 403 | Missing in isoform 3. | VSP_009043 | |||||||
| Alternative sequence | 443 | 1 | V → VGGDPGNIQCNKEGLSVETQ SLRLRNRSCLLGNSKDNGCC VPNPVHGTGLQV in isoform 3. | VSP_009044 | |||||||
| Alternative sequence | 576 – 577 | 2 | FS → CK in isoform 3. | VSP_009045 | |||||||
| Alternative sequence | 578 – 3487 | 2910 | Missing in isoform 3. | VSP_009046 | |||||||
| Alternative sequence | 1088 – 1095 | 8 | SSPLPRCV → MVIVILFP in isoform 2. | VSP_009039 | |||||||
| Alternative sequence | 2075 – 2116 | 42 | Missing in isoform 2. | VSP_009040 | |||||||
| Alternative sequence | 2288 – 2296 | 9 | AYPLTKCPP → GHLAAVCTL in isoform 2. | VSP_009041 | |||||||
| Alternative sequence | 2297 – 3487 | 1191 | Missing in isoform 2. | VSP_009042 | |||||||
| Natural variant | 167 | 1 | L → P: dbSNP rs16836099. | VAR_028081 | |||||||
| Natural variant | 538 | 1 | H → R: dbSNP rs474474. | VAR_024330 | |||||||
| Natural variant | 2096 | 1 | R → K: dbSNP rs1874045. | VAR_028082 | |||||||
| Natural variant | 2117 | 1 | A → V: dbSNP rs11588581. | VAR_028083 | |||||||
| Natural variant | 2554 | 1 | M → V: dbSNP rs2641962. | VAR_028084 | |||||||
| Natural variant | 2661 | 1 | L → R: dbSNP rs3820206. | VAR_028085 | |||||||
| Natural variant | 2661 | 1 | L → V: dbSNP rs34850622. | VAR_050917 | |||||||
| Natural variant | 3406 | 1 | S → F: dbSNP rs1617468. | VAR_028086 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 133 | 1 | V → A in AAO34701. Ref.1 | ||||||||
| Sequence conflict | 1104 | 1 | G → A in BAC87101. Ref.2 | ||||||||
| Sequence conflict | 1175 | 1 | V → E in BAC87101. Ref.2 | ||||||||
| Sequence conflict | 1695 | 1 | E → G in BAC87101. Ref.2 | ||||||||
| Sequence conflict | 3251 | 1 | S → N in AAO34701. Ref.1 | ||||||||
| Sequence conflict | 3251 | 1 | S → N in BAB67777. Ref.5 | ||||||||
Sequences
| ||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Identification of two new members of the CSMD gene family." Lau W.L., Scholnick S.B. Genomics 82:412-415(2003) [PubMed: 12906867] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [2] | "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] (ISOFORM 2), PROTEIN SEQUENCE OF 2969-3487 (ISOFORM 1). Tissue: Brain and Teratocarcinoma. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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] (ISOFORM 3). Tissue: Brain. |
| [5] | "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:179-187(2001) [PubMed: 11572484] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2542-3487 (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Brain. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY210418 mRNA. Translation: AAO34701.1. AK095627 mRNA. Translation: BAC04593.1. Different initiation. AK127722 mRNA. Translation: BAC87101.1. AC115285 Genomic DNA. No translation available. AC115286 Genomic DNA. No translation available. AC116993 Genomic DNA. No translation available. AL121980 Genomic DNA. No translation available. AL139140 Genomic DNA. No translation available. AL355178, AL161643 Genomic DNA. Translation: CAI23434.1. AL161643, AL355178 Genomic DNA. Translation: CAI23498.1. AL596224 Genomic DNA. No translation available. AL607106 Genomic DNA. No translation available. BC031871 mRNA. Translation: AAH31871.1. AB067471 mRNA. Translation: BAB67777.1. |
| IPI | IPI00289802. IPI00394771. IPI00746532. |
| RefSeq | NP_443128.2. |
| UniGene | Hs.656915 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q7Z408. 5 interactions. |
Proteomic databases | |
| PRIDE | Q7Z408. |
Genome annotation databases | |
| Ensembl | ENST00000241312; ENSP00000241312; ENSG00000121904; Homo sapiens. [Genome view] |
| GeneID | 114784. |
| KEGG | hsa:114784. |
| UCSC | uc001bxn.1. human. uc001bxo.1. human. |
Organism-specific databases | |
| CTD | 114784. |
| GeneCards | GC01M033752. |
| H-InvDB | HIX0000395. |
| HGNC | HGNC:19290. CSMD2. |
| HPA | HPA008622. |
| MIM | 608398. gene. |
| PharmGKB | PA134884681. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q7Z408. |
| PhylomeDB | Q7Z408. |
Gene expression databases | |
| ArrayExpress | Q7Z408. |
| Bgee | Q7Z408. |
| Genevestigator | Q7Z408. |
| GermOnline | ENSG00000121904. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016060. Complement_control_module. IPR000859. CUB. IPR000436. Sushi_SCR_CCP. [Graphical view] |
| Gene3D | G3DSA:2.10.70.10. Complement_control_module. 19 hits. G3DSA:2.60.120.290. CUB. 14 hits. |
| Pfam | PF00431. CUB. 14 hits. PF00084. Sushi. 26 hits. [Graphical view] |
| SMART | SM00032. CCP. 26 hits. SM00042. CUB. 14 hits. [Graphical view] |
| PROSITE | PS01180. CUB. 14 hits. PS50923. SUSHI. 26 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 79171. |
| SOURCE | Search... |
Entry information
| Entry name | CSMD2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7Z408 Secondary accession number(s): B1AM50 Q9HCY7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 1 Human chromosome 1: 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


