Q96RW7 (HMCN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 98.
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: Hemicentin-1 Alternative name(s): Fibulin-6 Short name=FIBL-6 | ||||
| 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 | 5635 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)
| Subcellular location | Secreted › extracellular space › extracellular matrix › basement membrane By similarity. |
| Tissue specificity | Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells. Ref.5 |
| Involvement in disease | Age-related macular degeneration 1 (ARMD1) [MIM:603075]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. |
| Sequence similarities | Contains 7 EGF-like domains. Contains 44 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 nidogen G2 beta-barrel domain. Contains 6 TSP type-1 domains. Contains 1 VWFA domain. |
| Sequence caution | The sequence BAB71154.1 differs from that shown. Reason: Frameshift at position 657. The sequence BAB71216.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Sensory transduction Vision |
| Cellular component | Basement membrane Extracellular matrix Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Age-related macular degeneration Disease mutation |
| Domain | EGF-like domain Immunoglobulin domain Repeat Signal |
| Ligand | Calcium |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perceptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | basement membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cell cortexInferred from electronic annotation. Source: Compara cell junctionInferred from electronic annotation. Source: Compara |
| Molecular_function | calcium ion binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96RW7-1) 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: Q96RW7-2) The sequence of this isoform differs from the canonical sequence as follows: 5315-5431: Missing. | ||||||
| Isoform 3 (identifier: Q96RW7-3) The sequence of this isoform differs from the canonical sequence as follows: 1-616: Missing. 1169-1171: VPP → GES 1172-5635: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 21 | 21 | Potential | ||||||||
| Chain | 22 – 5635 | 5614 | Hemicentin-1 | PRO_0000045391 | |||||||
Regions | |||||||||||
| Domain | 41 – 216 | 176 | VWFA | ||||||||
| Domain | 431 – 517 | 87 | Ig-like C2-type 1 | ||||||||
| Domain | 520 – 607 | 88 | Ig-like C2-type 2 | ||||||||
| Domain | 612 – 697 | 86 | Ig-like C2-type 3 | ||||||||
| Domain | 702 – 788 | 87 | Ig-like C2-type 4 | ||||||||
| Domain | 793 – 883 | 91 | Ig-like C2-type 5 | ||||||||
| Domain | 890 – 976 | 87 | Ig-like C2-type 6 | ||||||||
| Domain | 981 – 1067 | 87 | Ig-like C2-type 7 | ||||||||
| Domain | 1072 – 1166 | 95 | Ig-like C2-type 8 | ||||||||
| Domain | 1171 – 1255 | 85 | Ig-like C2-type 9 | ||||||||
| Domain | 1262 – 1354 | 93 | Ig-like C2-type 10 | ||||||||
| Domain | 1358 – 1447 | 90 | Ig-like C2-type 11 | ||||||||
| Domain | 1452 – 1541 | 90 | Ig-like C2-type 12 | ||||||||
| Domain | 1546 – 1634 | 89 | Ig-like C2-type 13 | ||||||||
| Domain | 1638 – 1724 | 87 | Ig-like C2-type 14 | ||||||||
| Domain | 1733 – 1821 | 89 | Ig-like C2-type 15 | ||||||||
| Domain | 1826 – 1914 | 89 | Ig-like C2-type 16 | ||||||||
| Domain | 1919 – 2007 | 89 | Ig-like C2-type 17 | ||||||||
| Domain | 2012 – 2097 | 86 | Ig-like C2-type 18 | ||||||||
| Domain | 2104 – 2190 | 87 | Ig-like C2-type 19 | ||||||||
| Domain | 2195 – 2285 | 91 | Ig-like C2-type 20 | ||||||||
| Domain | 2290 – 2379 | 90 | Ig-like C2-type 21 | ||||||||
| Domain | 2384 – 2470 | 87 | Ig-like C2-type 22 | ||||||||
| Domain | 2478 – 2564 | 87 | Ig-like C2-type 23 | ||||||||
| Domain | 2571 – 2662 | 92 | Ig-like C2-type 24 | ||||||||
| Domain | 2666 – 2763 | 98 | Ig-like C2-type 25 | ||||||||
| Domain | 2766 – 2864 | 99 | Ig-like C2-type 26 | ||||||||
| Domain | 2868 – 2959 | 92 | Ig-like C2-type 27 | ||||||||
| Domain | 2964 – 3051 | 88 | Ig-like C2-type 28 | ||||||||
| Domain | 3056 – 3146 | 91 | Ig-like C2-type 29 | ||||||||
| Domain | 3151 – 3240 | 90 | Ig-like C2-type 30 | ||||||||
| Domain | 3245 – 3335 | 91 | Ig-like C2-type 31 | ||||||||
| Domain | 3340 – 3429 | 90 | Ig-like C2-type 32 | ||||||||
| Domain | 3434 – 3516 | 83 | Ig-like C2-type 33 | ||||||||
| Domain | 3527 – 3615 | 89 | Ig-like C2-type 34 | ||||||||
| Domain | 3620 – 3708 | 89 | Ig-like C2-type 35 | ||||||||
| Domain | 3713 – 3797 | 85 | Ig-like C2-type 36 | ||||||||
| Domain | 3804 – 3892 | 89 | Ig-like C2-type 37 | ||||||||
| Domain | 3897 – 3983 | 87 | Ig-like C2-type 38 | ||||||||
| Domain | 3988 – 4076 | 89 | Ig-like C2-type 39 | ||||||||
| Domain | 4079 – 4164 | 86 | Ig-like C2-type 40 | ||||||||
| Domain | 4169 – 4255 | 87 | Ig-like C2-type 41 | ||||||||
| Domain | 4260 – 4344 | 85 | Ig-like C2-type 42 | ||||||||
| Domain | 4348 – 4435 | 88 | Ig-like C2-type 43 | ||||||||
| Domain | 4440 – 4527 | 88 | Ig-like C2-type 44 | ||||||||
| Domain | 4529 – 4584 | 56 | TSP type-1 1 | ||||||||
| Domain | 4586 – 4641 | 56 | TSP type-1 2 | ||||||||
| Domain | 4643 – 4698 | 56 | TSP type-1 3 | ||||||||
| Domain | 4700 – 4755 | 56 | TSP type-1 4 | ||||||||
| Domain | 4757 – 4812 | 56 | TSP type-1 5 | ||||||||
| Domain | 4814 – 4869 | 56 | TSP type-1 6 | ||||||||
| Domain | 4871 – 5093 | 223 | Nidogen G2 beta-barrel | ||||||||
| Domain | 5107 – 5146 | 40 | EGF-like 1; calcium-binding Potential | ||||||||
| Domain | 5147 – 5191 | 45 | EGF-like 2; calcium-binding Potential | ||||||||
| Domain | 5192 – 5229 | 38 | EGF-like 3; calcium-binding Potential | ||||||||
| Domain | 5230 – 5271 | 42 | EGF-like 4; calcium-binding Potential | ||||||||
| Domain | 5272 – 5307 | 36 | EGF-like 5; calcium-binding Potential | ||||||||
| Domain | 5315 – 5355 | 41 | EGF-like 6; calcium-binding Potential | ||||||||
| Domain | 5432 – 5471 | 40 | EGF-like 7; calcium-binding Potential | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 349 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 390 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 528 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 550 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 573 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 620 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 693 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 809 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 970 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1158 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1272 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1369 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1552 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1929 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2112 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2155 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2395 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2689 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2887 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2973 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3221 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3300 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3530 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3689 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3727 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3812 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 4029 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 4401 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 4491 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 4606 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 4894 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 5040 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 5267 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 5615 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 451 ↔ 499 | By similarity | |||||||||
| Disulfide bond | 541 ↔ 591 | By similarity | |||||||||
| Disulfide bond | 633 ↔ 681 | By similarity | |||||||||
| Disulfide bond | 723 ↔ 772 | By similarity | |||||||||
| Disulfide bond | 814 ↔ 867 | By similarity | |||||||||
| Disulfide bond | 911 ↔ 960 | By similarity | |||||||||
| Disulfide bond | 1002 ↔ 1051 | By similarity | |||||||||
| Disulfide bond | 1101 ↔ 1150 | By similarity | |||||||||
| Disulfide bond | 1192 ↔ 1241 | By similarity | |||||||||
| Disulfide bond | 1288 ↔ 1338 | By similarity | |||||||||
| Disulfide bond | 1382 ↔ 1431 | By similarity | |||||||||
| Disulfide bond | 1475 ↔ 1525 | By similarity | |||||||||
| Disulfide bond | 1569 ↔ 1618 | By similarity | |||||||||
| Disulfide bond | 1663 ↔ 1712 | By similarity | |||||||||
| Disulfide bond | 1756 ↔ 1805 | By similarity | |||||||||
| Disulfide bond | 1848 ↔ 1898 | By similarity | |||||||||
| Disulfide bond | 1942 ↔ 1991 | By similarity | |||||||||
| Disulfide bond | 2033 ↔ 2083 | By similarity | |||||||||
| Disulfide bond | 2125 ↔ 2174 | By similarity | |||||||||
| Disulfide bond | 2218 ↔ 2269 | By similarity | |||||||||
| Disulfide bond | 2314 ↔ 2363 | By similarity | |||||||||
| Disulfide bond | 2408 ↔ 2457 | By similarity | |||||||||
| Disulfide bond | 2501 ↔ 2550 | By similarity | |||||||||
| Disulfide bond | 2597 ↔ 2646 | By similarity | |||||||||
| Disulfide bond | 2696 ↔ 2745 | By similarity | |||||||||
| Disulfide bond | 2799 ↔ 2848 | By similarity | |||||||||
| Disulfide bond | 2894 ↔ 2943 | By similarity | |||||||||
| Disulfide bond | 2986 ↔ 3035 | By similarity | |||||||||
| Disulfide bond | 3081 ↔ 3130 | By similarity | |||||||||
| Disulfide bond | 3173 ↔ 3224 | By similarity | |||||||||
| Disulfide bond | 3268 ↔ 3319 | By similarity | |||||||||
| Disulfide bond | 3364 ↔ 3413 | By similarity | |||||||||
| Disulfide bond | 3457 ↔ 3506 | By similarity | |||||||||
| Disulfide bond | 3550 ↔ 3599 | By similarity | |||||||||
| Disulfide bond | 3643 ↔ 3692 | By similarity | |||||||||
| Disulfide bond | 3734 ↔ 3783 | By similarity | |||||||||
| Disulfide bond | 3825 ↔ 3876 | By similarity | |||||||||
| Disulfide bond | 3918 ↔ 3967 | By similarity | |||||||||
| Disulfide bond | 4009 ↔ 4058 | By similarity | |||||||||
| Disulfide bond | 4100 ↔ 4148 | By similarity | |||||||||
| Disulfide bond | 4190 ↔ 4239 | By similarity | |||||||||
| Disulfide bond | 4281 ↔ 4328 | By similarity | |||||||||
| Disulfide bond | 4371 ↔ 4419 | By similarity | |||||||||
| Disulfide bond | 4461 ↔ 4509 | By similarity | |||||||||
| Disulfide bond | 4541 ↔ 4578 | By similarity | |||||||||
| Disulfide bond | 4545 ↔ 4583 | By similarity | |||||||||
| Disulfide bond | 4556 ↔ 4568 | By similarity | |||||||||
| Disulfide bond | 4598 ↔ 4635 | By similarity | |||||||||
| Disulfide bond | 4602 ↔ 4640 | By similarity | |||||||||
| Disulfide bond | 4613 ↔ 4625 | By similarity | |||||||||
| Disulfide bond | 4655 ↔ 4692 | By similarity | |||||||||
| Disulfide bond | 4659 ↔ 4697 | By similarity | |||||||||
| Disulfide bond | 4670 ↔ 4682 | By similarity | |||||||||
| Disulfide bond | 4712 ↔ 4749 | By similarity | |||||||||
| Disulfide bond | 4716 ↔ 4754 | By similarity | |||||||||
| Disulfide bond | 4727 ↔ 4739 | By similarity | |||||||||
| Disulfide bond | 4769 ↔ 4806 | By similarity | |||||||||
| Disulfide bond | 4773 ↔ 4811 | By similarity | |||||||||
| Disulfide bond | 4784 ↔ 4796 | By similarity | |||||||||
| Disulfide bond | 4826 ↔ 4863 | By similarity | |||||||||
| Disulfide bond | 4830 ↔ 4868 | By similarity | |||||||||
| Disulfide bond | 4841 ↔ 4853 | By similarity | |||||||||
| Disulfide bond | 5111 ↔ 5121 | By similarity | |||||||||
| Disulfide bond | 5117 ↔ 5130 | By similarity | |||||||||
| Disulfide bond | 5132 ↔ 5145 | By similarity | |||||||||
| Disulfide bond | 5196 ↔ 5206 | By similarity | |||||||||
| Disulfide bond | 5202 ↔ 5215 | By similarity | |||||||||
| Disulfide bond | 5217 ↔ 5228 | By similarity | |||||||||
| Disulfide bond | 5276 ↔ 5289 | By similarity | |||||||||
| Disulfide bond | 5283 ↔ 5298 | By similarity | |||||||||
| Disulfide bond | 5319 ↔ 5330 | By similarity | |||||||||
| Disulfide bond | 5326 ↔ 5339 | By similarity | |||||||||
| Disulfide bond | 5341 ↔ 5354 | By similarity | |||||||||
| Disulfide bond | 5436 ↔ 5446 | By similarity | |||||||||
| Disulfide bond | 5442 ↔ 5455 | By similarity | |||||||||
| Disulfide bond | 5457 ↔ 5470 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 616 | 616 | Missing in isoform 3. | VSP_016871 | |||||||
| Alternative sequence | 1169 – 1171 | 3 | VPP → GES in isoform 3. | VSP_016872 | |||||||
| Alternative sequence | 1172 – 5635 | 4464 | Missing in isoform 3. | VSP_016873 | |||||||
| Alternative sequence | 5315 – 5431 | 117 | Missing in isoform 2. | VSP_016874 | |||||||
| Natural variant | 1056 | 1 | T → A. Corresponds to variant rs7539719 [ dbSNP | Ensembl ]. | VAR_049875 | |||||||
| Natural variant | 1184 | 1 | V → F. Corresponds to variant rs12239296 [ dbSNP | Ensembl ]. | VAR_049876 | |||||||
| Natural variant | 1624 | 1 | A → V. Ref.5 | VAR_024811 | |||||||
| Natural variant | 2327 | 1 | M → I. Ref.5 Corresponds to variant rs12067376 [ dbSNP | Ensembl ]. | VAR_024812 | |||||||
| Natural variant | 2418 | 1 | I → T. Ref.1 Ref.5 Corresponds to variant rs12129650 [ dbSNP | Ensembl ]. | VAR_024813 | |||||||
| Natural variant | 2893 | 1 | E → G. Ref.5 Corresponds to variant rs10798035 [ dbSNP | Ensembl ]. | VAR_024814 | |||||||
| Natural variant | 4084 | 1 | H → Y. Ref.5 Corresponds to variant rs41317489 [ dbSNP | Ensembl ]. | VAR_024815 | |||||||
| Natural variant | 4437 | 1 | Q → R. Corresponds to variant rs10911825 [ dbSNP | Ensembl ]. | VAR_049877 | |||||||
| Natural variant | 4720 | 1 | A → T. Ref.5 Corresponds to variant rs6693069 [ dbSNP | Ensembl ]. | VAR_024816 | |||||||
| Natural variant | 5087 | 1 | D → V. Ref.5 Corresponds to variant rs41317507 [ dbSNP | Ensembl ]. | VAR_024817 | |||||||
| Natural variant | 5345 | 1 | Q → R in ARMD1. Ref.5 | VAR_024818 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 35 | 1 | I → F Ref.1 | ||||||||
| Sequence conflict | 483 | 1 | N → S Ref.1 | ||||||||
| Sequence conflict | 1042 | 1 | G → E Ref.1 | ||||||||
| Sequence conflict | 1078 | 1 | Q → L Ref.1 | ||||||||
| Sequence conflict | 1153 | 1 | T → I in BAB71216. Ref.2 | ||||||||
| Sequence conflict | 1319 | 1 | D → E Ref.1 | ||||||||
| Sequence conflict | 1368 | 1 | T → S Ref.1 | ||||||||
| Sequence conflict | 1414 | 1 | K → R in BAB71216. Ref.2 | ||||||||
| Sequence conflict | 1461 | 1 | N → K Ref.1 | ||||||||
| Sequence conflict | 1570 | 1 | E → K Ref.1 | ||||||||
| Sequence conflict | 1664 | 1 | K → N Ref.1 | ||||||||
| Sequence conflict | 1688 | 1 | I → F Ref.1 | ||||||||
| Sequence conflict | 1775 | 1 | I → V in BAB71216. Ref.2 | ||||||||
| Sequence conflict | 1816 | 1 | K → E in BAB71216. Ref.2 | ||||||||
| Sequence conflict | 1959 | 1 | R → C Ref.1 | ||||||||
| Sequence conflict | 2073 | 1 | A → T Ref.1 | ||||||||
| Sequence conflict | 2184 | 1 | E → EK Ref.1 | ||||||||
| Sequence conflict | 2872 | 1 | K → E Ref.1 | ||||||||
| Sequence conflict | 3189 | 1 | H → Y Ref.1 | ||||||||
| Sequence conflict | 3355 | 1 | L → Y Ref.1 | ||||||||
| Sequence conflict | 4136 | 1 | A → T Ref.4 | ||||||||
| Sequence conflict | 4340 | 1 | I → T Ref.1 | ||||||||
| Sequence conflict | 4358 | 1 | N → H Ref.4 | ||||||||
| Sequence conflict | 4699 | 1 | I → V Ref.4 | ||||||||
| Sequence conflict | 5294 | 1 | G → S Ref.1 | ||||||||
| Sequence conflict | 5317 | 1 | N → D Ref.1 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human hemicentin gene." Trent J. Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-2418. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 892-2181. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "Partial sequence of fibulin-6 with a C-terminal region related to domain II and III of the fibulin family." Kostka G., Timpl R. Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2963-5635. Tissue: Melanoma. |
| [5] | "Analysis of the ARMD1 locus: evidence that a mutation in hemicentin-1 is associated with age-related macular degeneration in a large family." Schultz D.W., Klein M.L., Humpert A.J., Luzier C.W., Persun V., Schain M., Mahan A., Runckel C., Cassera M., Vittal V., Doyle T.M., Martin T.M., Weleber R.G., Francis P.J., Acott T.S. Hum. Mol. Genet. 12:3315-3323(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARMD1 ARG-5345, VARIANTS VAL-1624; ILE-2327; THR-2418; GLY-2893; TYR-4084; THR-4720 AND VAL-5087, TISSUE SPECIFICITY, ALTERNATIVE SPLICING (ISOFORM 2). |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF156100 mRNA. Translation: AAK68690.1. AK056336 mRNA. Translation: BAB71154.1. Sequence problems. AK056557 mRNA. Translation: BAB71216.1. Different initiation. BX928748 AL135797 Genomic DNA. Translation: CAH74051.1.AL121996 AL391824 Genomic DNA. Translation: CAI17844.1.AL133515 AL118512 Genomic DNA. Translation: CAI17853.1.AL135796 BX928748 Genomic DNA. Translation: CAI17854.1.AL133553 BX928748 Genomic DNA. Translation: CAI17858.1.AL118512 AL121996 Genomic DNA. Translation: CAI17864.1.AL391824 BX928748 Genomic DNA. Translation: CAI17865.1.AL135797 BX928748 Genomic DNA. Translation: CAI17871.1.AJ306906 mRNA. Translation: CAC37630.1. |
| IPI | IPI00045512. IPI00657877. IPI00871227. |
| RefSeq | NP_114141.2. NM_031935.2. |
| UniGene | Hs.58877. |
3D structure databases | |
| ProteinModelPortal | Q96RW7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96RW7. 7 interactions. |
| STRING | 9606.ENSP00000271588. |
PTM databases | |
| PhosphoSite | Q96RW7. |
Polymorphism databases | |
| DMDM | 85542049. |
Proteomic databases | |
| PaxDb | Q96RW7. |
| PRIDE | Q96RW7. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000271588; ENSP00000271588; ENSG00000143341. ENST00000367492; ENSP00000356462; ENSG00000143341. |
| GeneID | 83872. |
| KEGG | hsa:83872. |
| UCSC | uc001grq.1. human. uc001grr.1. human. |
Organism-specific databases | |
| CTD | 83872. |
| GeneCards | GC01P185703. |
| H-InvDB | HIX0001425. |
| HGNC | HGNC:19194. HMCN1. |
| HPA | HPA051677. |
| MIM | 603075. phenotype. 608548. gene. |
| neXtProt | NX_Q96RW7. |
| Orphanet | 279. Age-related macular degeneration. |
| PharmGKB | PA142671679. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOGENOM | HOG000231553. |
| HOVERGEN | HBG080319. |
| InParanoid | Q96RW7. |
| OMA | RPVQGIP. |
| OrthoDB | EOG4XGZZ5. |
Gene expression databases | |
| ArrayExpress | Q96RW7. |
| Bgee | Q96RW7. |
| CleanEx | HS_HMCN1. |
| Genevestigator | Q96RW7. |
| GermOnline | ENSG00000143341. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.40.155.10. 1 hit. 2.60.40.10. 44 hits. |
| InterPro | IPR026823. cEGF. IPR000742. EG-like_dom. IPR001881. EGF-like_Ca-bd. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR018097. EGF_Ca-bd_CS. IPR006605. G2_nidogen/fibulin_G2F. IPR009017. GFP. IPR023413. GFP_like. IPR009030. Growth_fac_rcpt. IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003599. Ig_sub. IPR003598. Ig_sub2. IPR000884. Thrombospondin_1_rpt. IPR002035. VWF_A. [Graphical view] |
| Pfam | PF12662. cEGF. 1 hit. PF07645. EGF_CA. 6 hits. PF07474. G2F. 1 hit. PF07679. I-set. 43 hits. PF00090. TSP_1. 6 hits. [Graphical view] |
| SMART | SM00181. EGF. 1 hit. SM00179. EGF_CA. 7 hits. SM00409. IG. 1 hit. SM00408. IGc2. 43 hits. SM00209. TSP1. 6 hits. SM00327. VWA. 1 hit. [Graphical view] |
| SUPFAM | SSF54511. GFP_like. 1 hit. SSF57184. Grow_fac_recept. 1 hit. SSF82895. TSP1. 6 hits. |
| PROSITE | PS00010. ASX_HYDROXYL. 5 hits. PS00022. EGF_1. False negative. PS01186. EGF_2. 3 hits. PS50026. EGF_3. 5 hits. PS01187. EGF_CA. 8 hits. PS50835. IG_LIKE. 44 hits. PS50993. NIDOGEN_G2. 1 hit. PS50092. TSP1. 6 hits. PS50234. VWFA. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 83872. |
| NextBio | 72899. |
| SOURCE | Search... |
Entry information
| Entry name | HMCN1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96RW7 Secondary accession number(s): A6NGE3 Q96SC3 | ||||||||
| Entry history |
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| 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 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
