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Q96RW7

- HMCN1_HUMAN

UniProt

Q96RW7 - HMCN1_HUMAN

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Protein

Hemicentin-1

Gene

HMCN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. response to stimulus Source: UniProtKB-KW
  2. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Hemicentin-1
Alternative name(s):
Fibulin-6
Short name:
FIBL-6
Gene namesi
Name:HMCN1
Synonyms:FIBL6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:19194. HMCN1.

Subcellular locationi

GO - Cellular componenti

  1. basement membrane Source: UniProtKB-KW
  2. cell cortex Source: Ensembl
  3. cell junction Source: Ensembl
  4. extracellular vesicular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Macular degeneration, age-related, 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5345 – 53451Q → R in ARMD1. 1 Publication
VAR_024818

Keywords - Diseasei

Age-related macular degeneration, Disease mutation

Organism-specific databases

MIMi603075. phenotype.
Orphaneti279. Age-related macular degeneration.
PharmGKBiPA142671679.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence AnalysisAdd
BLAST
Chaini22 – 56355614Hemicentin-1PRO_0000045391Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi349 – 3491N-linked (GlcNAc...)Sequence Analysis
Glycosylationi390 – 3901N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi451 ↔ 499By similarity
Glycosylationi528 – 5281N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi541 ↔ 591By similarity
Glycosylationi550 – 5501N-linked (GlcNAc...)Sequence Analysis
Glycosylationi573 – 5731N-linked (GlcNAc...)Sequence Analysis
Glycosylationi620 – 6201N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi633 ↔ 681By similarity
Glycosylationi693 – 6931N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi723 ↔ 772By similarity
Glycosylationi809 – 8091N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi814 ↔ 867By similarity
Disulfide bondi911 ↔ 960By similarity
Glycosylationi970 – 9701N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1002 ↔ 1051By similarity
Disulfide bondi1101 ↔ 1150By similarity
Glycosylationi1158 – 11581N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1192 ↔ 1241By similarity
Glycosylationi1272 – 12721N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1288 ↔ 1338By similarity
Glycosylationi1369 – 13691N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1382 ↔ 1431By similarity
Disulfide bondi1475 ↔ 1525By similarity
Glycosylationi1552 – 15521N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1569 ↔ 1618By similarity
Disulfide bondi1663 ↔ 1712By similarity
Disulfide bondi1756 ↔ 1805By similarity
Disulfide bondi1848 ↔ 1898By similarity
Glycosylationi1929 – 19291N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1942 ↔ 1991By similarity
Disulfide bondi2033 ↔ 2083By similarity
Glycosylationi2112 – 21121N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi2125 ↔ 2174By similarity
Glycosylationi2155 – 21551N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi2218 ↔ 2269By similarity
Disulfide bondi2314 ↔ 2363By similarity
Glycosylationi2395 – 23951N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi2408 ↔ 2457By similarity
Disulfide bondi2501 ↔ 2550By similarity
Disulfide bondi2597 ↔ 2646By similarity
Glycosylationi2689 – 26891N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi2696 ↔ 2745By similarity
Disulfide bondi2799 ↔ 2848By similarity
Glycosylationi2887 – 28871N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi2894 ↔ 2943By similarity
Glycosylationi2973 – 29731N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi2986 ↔ 3035By similarity
Disulfide bondi3081 ↔ 3130By similarity
Disulfide bondi3173 ↔ 3224By similarity
Glycosylationi3221 – 32211N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi3268 ↔ 3319By similarity
Glycosylationi3300 – 33001N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi3364 ↔ 3413By similarity
Disulfide bondi3457 ↔ 3506By similarity
Glycosylationi3530 – 35301N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi3550 ↔ 3599By similarity
Disulfide bondi3643 ↔ 3692By similarity
Glycosylationi3689 – 36891N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3727 – 37271N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi3734 ↔ 3783By similarity
Glycosylationi3812 – 38121N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi3825 ↔ 3876By similarity
Disulfide bondi3918 ↔ 3967By similarity
Disulfide bondi4009 ↔ 4058By similarity
Glycosylationi4029 – 40291N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi4100 ↔ 4148By similarity
Disulfide bondi4190 ↔ 4239By similarity
Disulfide bondi4281 ↔ 4328By similarity
Disulfide bondi4371 ↔ 4419By similarity
Glycosylationi4401 – 44011N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi4461 ↔ 4509By similarity
Glycosylationi4491 – 44911N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi4541 ↔ 4578By similarity
Disulfide bondi4545 ↔ 4583By similarity
Disulfide bondi4556 ↔ 4568By similarity
Disulfide bondi4598 ↔ 4635By similarity
Disulfide bondi4602 ↔ 4640By similarity
Glycosylationi4606 – 46061N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi4613 ↔ 4625By similarity
Disulfide bondi4655 ↔ 4692By similarity
Disulfide bondi4659 ↔ 4697By similarity
Disulfide bondi4670 ↔ 4682By similarity
Disulfide bondi4712 ↔ 4749By similarity
Disulfide bondi4716 ↔ 4754By similarity
Disulfide bondi4727 ↔ 4739By similarity
Disulfide bondi4769 ↔ 4806By similarity
Disulfide bondi4773 ↔ 4811By similarity
Disulfide bondi4784 ↔ 4796By similarity
Disulfide bondi4826 ↔ 4863By similarity
Disulfide bondi4830 ↔ 4868By similarity
Disulfide bondi4841 ↔ 4853By similarity
Glycosylationi4894 – 48941N-linked (GlcNAc...)Sequence Analysis
Glycosylationi5040 – 50401N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi5111 ↔ 5121By similarity
Disulfide bondi5117 ↔ 5130By similarity
Disulfide bondi5132 ↔ 5145By similarity
Disulfide bondi5196 ↔ 5206By similarity
Disulfide bondi5202 ↔ 5215By similarity
Disulfide bondi5217 ↔ 5228By similarity
Glycosylationi5267 – 52671N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi5276 ↔ 5289By similarity
Disulfide bondi5283 ↔ 5298By similarity
Disulfide bondi5319 ↔ 5330By similarity
Disulfide bondi5326 ↔ 5339By similarity
Disulfide bondi5341 ↔ 5354By similarity
Disulfide bondi5436 ↔ 5446By similarity
Disulfide bondi5442 ↔ 5455By similarity
Disulfide bondi5457 ↔ 5470By similarity
Glycosylationi5615 – 56151N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ96RW7.
PaxDbiQ96RW7.
PRIDEiQ96RW7.

PTM databases

PhosphoSiteiQ96RW7.

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells.1 Publication

Gene expression databases

BgeeiQ96RW7.
CleanExiHS_HMCN1.
ExpressionAtlasiQ96RW7. baseline and differential.
GenevestigatoriQ96RW7.

Organism-specific databases

HPAiHPA051677.

Interactioni

Protein-protein interaction databases

BioGridi123785. 2 interactions.
IntActiQ96RW7. 7 interactions.
STRINGi9606.ENSP00000271588.

Structurei

3D structure databases

ProteinModelPortaliQ96RW7.
SMRiQ96RW7. Positions 416-4868, 4870-5083, 5105-5531.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini41 – 216176VWFAAdd
BLAST
Domaini431 – 51787Ig-like C2-type 1Add
BLAST
Domaini520 – 60788Ig-like C2-type 2Add
BLAST
Domaini612 – 69786Ig-like C2-type 3Add
BLAST
Domaini702 – 78887Ig-like C2-type 4Add
BLAST
Domaini793 – 88391Ig-like C2-type 5Add
BLAST
Domaini890 – 97687Ig-like C2-type 6Add
BLAST
Domaini981 – 106787Ig-like C2-type 7Add
BLAST
Domaini1072 – 116695Ig-like C2-type 8Add
BLAST
Domaini1171 – 125585Ig-like C2-type 9Add
BLAST
Domaini1262 – 135493Ig-like C2-type 10Add
BLAST
Domaini1358 – 144790Ig-like C2-type 11Add
BLAST
Domaini1452 – 154190Ig-like C2-type 12Add
BLAST
Domaini1546 – 163489Ig-like C2-type 13Add
BLAST
Domaini1638 – 172487Ig-like C2-type 14Add
BLAST
Domaini1733 – 182189Ig-like C2-type 15Add
BLAST
Domaini1826 – 191489Ig-like C2-type 16Add
BLAST
Domaini1919 – 200789Ig-like C2-type 17Add
BLAST
Domaini2012 – 209786Ig-like C2-type 18Add
BLAST
Domaini2104 – 219087Ig-like C2-type 19Add
BLAST
Domaini2195 – 228591Ig-like C2-type 20Add
BLAST
Domaini2290 – 237990Ig-like C2-type 21Add
BLAST
Domaini2384 – 247087Ig-like C2-type 22Add
BLAST
Domaini2478 – 256487Ig-like C2-type 23Add
BLAST
Domaini2571 – 266292Ig-like C2-type 24Add
BLAST
Domaini2666 – 276398Ig-like C2-type 25Add
BLAST
Domaini2766 – 286499Ig-like C2-type 26Add
BLAST
Domaini2868 – 295992Ig-like C2-type 27Add
BLAST
Domaini2964 – 305188Ig-like C2-type 28Add
BLAST
Domaini3056 – 314691Ig-like C2-type 29Add
BLAST
Domaini3151 – 324090Ig-like C2-type 30Add
BLAST
Domaini3245 – 333591Ig-like C2-type 31Add
BLAST
Domaini3340 – 342990Ig-like C2-type 32Add
BLAST
Domaini3434 – 351683Ig-like C2-type 33Add
BLAST
Domaini3527 – 361589Ig-like C2-type 34Add
BLAST
Domaini3620 – 370889Ig-like C2-type 35Add
BLAST
Domaini3713 – 379785Ig-like C2-type 36Add
BLAST
Domaini3804 – 389289Ig-like C2-type 37Add
BLAST
Domaini3897 – 398387Ig-like C2-type 38Add
BLAST
Domaini3988 – 407689Ig-like C2-type 39Add
BLAST
Domaini4079 – 416486Ig-like C2-type 40Add
BLAST
Domaini4169 – 425587Ig-like C2-type 41Add
BLAST
Domaini4260 – 434485Ig-like C2-type 42Add
BLAST
Domaini4348 – 443588Ig-like C2-type 43Add
BLAST
Domaini4440 – 452788Ig-like C2-type 44Add
BLAST
Domaini4529 – 458456TSP type-1 1PROSITE-ProRule annotationAdd
BLAST
Domaini4586 – 464156TSP type-1 2PROSITE-ProRule annotationAdd
BLAST
Domaini4643 – 469856TSP type-1 3PROSITE-ProRule annotationAdd
BLAST
Domaini4700 – 475556TSP type-1 4PROSITE-ProRule annotationAdd
BLAST
Domaini4757 – 481256TSP type-1 5PROSITE-ProRule annotationAdd
BLAST
Domaini4814 – 486956TSP type-1 6PROSITE-ProRule annotationAdd
BLAST
Domaini4871 – 5093223Nidogen G2 beta-barrelPROSITE-ProRule annotationAdd
BLAST
Domaini5107 – 514640EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini5147 – 519145EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini5192 – 522938EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini5230 – 527142EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini5272 – 530736EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini5315 – 535541EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini5432 – 547140EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 7 EGF-like domains.PROSITE-ProRule annotation
Contains 1 nidogen G2 beta-barrel domain.PROSITE-ProRule annotation
Contains 6 TSP type-1 domains.PROSITE-ProRule annotation
Contains 1 VWFA domain.Curated

Keywords - Domaini

EGF-like domain, Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00760000118806.
HOGENOMiHOG000231553.
HOVERGENiHBG080319.
InParanoidiQ96RW7.
KOiK17341.
OMAiNVAGKTE.
OrthoDBiEOG7SXW2B.
PhylomeDBiQ96RW7.

Family and domain databases

Gene3Di2.40.155.10. 1 hit.
2.60.40.10. 44 hits.
InterProiIPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
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_N_dom.
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]
PfamiPF12662. cEGF. 1 hit.
PF07645. EGF_CA. 6 hits.
PF07474. G2F. 1 hit.
PF07679. I-set. 43 hits.
PF00090. TSP_1. 6 hits.
[Graphical view]
SMARTiSM00181. 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]
SUPFAMiSSF53300. SSF53300. 1 hit.
SSF54511. SSF54511. 1 hit.
SSF57184. SSF57184. 3 hits.
SSF82895. SSF82895. 6 hits.
PROSITEiPS00010. ASX_HYDROXYL. 5 hits.
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.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96RW7-1) [UniParc]FASTAAdd to Basket

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.

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        10         20         30         40         50
MISWEVVHTV FLFALLYSSL AQDASPQSEI RAEEIPEGAS TLAFVFDVTG
60 70 80 90 100
SMYDDLVQVI EGASKILETS LKRPKRPLFN FALVPFHDPE IGPVTITTDP
110 120 130 140 150
KKFQYELREL YVQGGGDCPE MSIGAIKIAL EISLPGSFIY VFTDARSKDY
160 170 180 190 200
RLTHEVLQLI QQKQSQVVFV LTGDCDDRTH IGYKVYEEIA STSSGQVFHL
210 220 230 240 250
DKKQVNEVLK WVEEAVQASK VHLLSTDHLE QAVNTWRIPF DPSLKEVTVS
260 270 280 290 300
LSGPSPMIEI RNPLGKLIKK GFGLHELLNI HNSAKVVNVK EPEAGMWTVK
310 320 330 340 350
TSSSGRHSVR ITGLSTIDFR AGFSRKPTLD FKKTVSRPVQ GIPTYVLLNT
360 370 380 390 400
SGISTPARID LLELLSISGS SLKTIPVKYY PHRKPYGIWN ISDFVPPNEA
410 420 430 440 450
FFLKVTGYDK DDYLFQRVSS VSFSSIVPDA PKVTMPEKTP GYYLQPGQIP
460 470 480 490 500
CSVDSLLPFT LSFVRNGVTL GVDQYLKESA SVNLDIAKVT LSDEGFYECI
510 520 530 540 550
AVSSAGTGRA QTFFDVSEPP PVIQVPNNVT VTPGERAVLT CLIISAVDYN
560 570 580 590 600
LTWQRNDRDV RLAEPARIRT LANLSLELKS VKFNDAGEYH CMVSSEGGSS
610 620 630 640 650
AASVFLTVQE PPKVTVMPKN QSFTGGSEVS IMCSATGYPK PKIAWTVNDM
660 670 680 690 700
FIVGSHRYRM TSDGTLFIKN AAPKDAGIYG CLASNSAGTD KQNSTLRYIE
710 720 730 740 750
APKLMVVQSE LLVALGDITV MECKTSGIPP PQVKWFKGDL ELRPSTFLII
760 770 780 790 800
DPLLGLLKIQ ETQDLDAGDY TCVAINEAGR ATGKITLDVG SPPVFIQEPA
810 820 830 840 850
DVSMEIGSNV TLPCYVQGYP EPTIKWRRLD NMPIFSRPFS VSSISQLRTG
860 870 880 890 900
ALFILNLWAS DKGTYICEAE NQFGKIQSET TVTVTGLVAP LIGISPSVAN
910 920 930 940 950
VIEGQQLTLP CTLLAGNPIP ERRWIKNSAM LLQNPYITVR SDGSLHIERV
960 970 980 990 1000
QLQDGGEYTC VASNVAGTNN KTTSVVVHVL PTIQHGQQIL STIEGIPVTL
1010 1020 1030 1040 1050
PCKASGNPKP SVIWSKKGEL ISTSSAKFSA GADGSLYVVS PGGEESGEYV
1060 1070 1080 1090 1100
CTATNTAGYA KRKVQLTVYV RPRVFGDQRG LSQDKPVEIS VLAGEEVTLP
1110 1120 1130 1140 1150
CEVKSLPPPI ITWAKETQLI SPFSPRHTFL PSGSMKITET RTSDSGMYLC
1160 1170 1180 1190 1200
VATNIAGNVT QAVKLNVHVP PKIQRGPKHL KVQVGQRVDI PCNAQGTPLP
1210 1220 1230 1240 1250
VITWSKGGST MLVDGEHHVS NPDGTLSIDQ ATPSDAGIYT CVATNIAGTD
1260 1270 1280 1290 1300
ETEITLHVQE PPTVEDLEPP YNTTFQERVA NQRIEFPCPA KGTPKPTIKW
1310 1320 1330 1340 1350
LHNGRELTGR EPGISILEDG TLLVIASVTP YDNGEYICVA VNEAGTTERK
1360 1370 1380 1390 1400
YNLKVHVPPV IKDKEQVTNV SVLLNQLTNL FCEVEGTPSP IIMWYKDNVQ
1410 1420 1430 1440 1450
VTESSTIQTV NNGKILKLFR ATPEDAGRYS CKAINIAGTS QKYFNIDVLV
1460 1470 1480 1490 1500
PPTIIGTNFP NEVSVVLNRD VALECQVKGT PFPDIHWFKD GKPLFLGDPN
1510 1520 1530 1540 1550
VELLDRGQVL HLKNARRNDK GRYQCTVSNA AGKQAKDIKL TIYIPPSIKG
1560 1570 1580 1590 1600
GNVTTDISVL INSLIKLECE TRGLPMPAIT WYKDGQPIMS SSQALYIDKG
1610 1620 1630 1640 1650
QYLHIPRAQV SDSATYTCHV ANVAGTAEKS FHVDVYVPPM IEGNLATPLN
1660 1670 1680 1690 1700
KQVVIAHSLT LECKAAGNPS PILTWLKDGV PVKANDNIRI EAGGKKLEIM
1710 1720 1730 1740 1750
SAQEIDRGQY ICVATSVAGE KEIKYEVDVL VPPAIEGGDE TSYFIVMVNN
1760 1770 1780 1790 1800
LLELDCHVTG SPPPTIMWLK DGQLIDERDG FKILLNGRKL VIAQAQVSNT
1810 1820 1830 1840 1850
GLYRCMAANT AGDHKKEFEV TVHVPPTIKS SGLSERVVVK YKPVALQCIA
1860 1870 1880 1890 1900
NGIPNPSITW LKDDQPVNTA QGNLKIQSSG RVLQIAKTLL EDAGRYTCVA
1910 1920 1930 1940 1950
TNAAGETQQH IQLHVHEPPS LEDAGKMLNE TVLVSNPVQL ECKAAGNPVP
1960 1970 1980 1990 2000
VITWYKDNRL LSGSTSMTFL NRGQIIDIES AQISDAGIYK CVAINSAGAT
2010 2020 2030 2040 2050
ELFYSLQVHV APSISGSNNM VAVVVNNPVR LECEARGIPA PSLTWLKDGS
2060 2070 2080 2090 2100
PVSSFSNGLQ VLSGGRILAL TSAQISDTGR YTCVAVNAAG EKQRDIDLRV
2110 2120 2130 2140 2150
YVPPNIMGEE QNVSVLISQA VELLCQSDAI PPPTLTWLKD GHPLLKKPGL
2160 2170 2180 2190 2200
SISENRSVLK IEDAQVQDTG RYTCEATNVA GKTEKNYNVN IWVPPNIGGS
2210 2220 2230 2240 2250
DELTQLTVIE GNLISLLCES SGIPPPNLIW KKKGSPVLTD SMGRVRILSG
2260 2270 2280 2290 2300
GRQLQISIAE KSDAALYSCV ASNVAGTAKK EYNLQVYIRP TITNSGSHPT
2310 2320 2330 2340 2350
EIIVTRGKSI SLECEVQGIP PPTVTWMKDG HPLIKAKGVE ILDEGHILQL
2360 2370 2380 2390 2400
KNIHVSDTGR YVCVAVNVAG MTDKKYDLSV HAPPSIIGNH RSPENISVVE
2410 2420 2430 2440 2450
KNSVSLTCEA SGIPLPSITW FKDGWPVSLS NSVRILSGGR MLRLMQTTME
2460 2470 2480 2490 2500
DAGQYTCVVR NAAGEERKIF GLSVLVPPHI VGENTLEDVK VKEKQSVTLT
2510 2520 2530 2540 2550
CEVTGNPVPE ITWHKDGQPL QEDEAHHIIS GGRFLQITNV QVPHTGRYTC
2560 2570 2580 2590 2600
LASSPAGHKS RSFSLNVFVS PTIAGVGSDG NPEDVTVILN SPTSLVCEAY
2610 2620 2630 2640 2650
SYPPATITWF KDGTPLESNR NIRILPGGRT LQILNAQEDN AGRYSCVATN
2660 2670 2680 2690 2700
EAGEMIKHYE VKVYIPPIIN KGDLWGPGLS PKEVKIKVNN TLTLECEAYA
2710 2720 2730 2740 2750
IPSASLSWYK DGQPLKSDDH VNIAANGHTL QIKEAQISDT GRYTCVASNI
2760 2770 2780 2790 2800
AGEDELDFDV NIQVPPSFQK LWEIGNMLDT GRNGEAKDVI INNPISLYCE
2810 2820 2830 2840 2850
TNAAPPPTLT WYKDGHPLTS SDKVLILPGG RVLQIPRAKV EDAGRYTCVA
2860 2870 2880 2890 2900
VNEAGEDSLQ YDVRVLVPPI IKGANSDLPE EVTVLVNKSA LIECLSSGSP
2910 2920 2930 2940 2950
APRNSWQKDG QPLLEDDHHK FLSNGRILQI LNTQITDIGR YVCVAENTAG
2960 2970 2980 2990 3000
SAKKYFNLNV HVPPSVIGPK SENLTVVVNN FISLTCEVSG FPPPDLSWLK
3010 3020 3030 3040 3050
NEQPIKLNTN TLIVPGGRTL QIIRAKVSDG GEYTCIAINQ AGESKKKFSL
3060 3070 3080 3090 3100
TVYVPPSIKD HDSESLSVVN VREGTSVSLE CESNAVPPPV ITWYKNGRMI
3110 3120 3130 3140 3150
TESTHVEILA DGQMLHIKKA EVSDTGQYVC RAINVAGRDD KNFHLNVYVP
3160 3170 3180 3190 3200
PSIEGPEREV IVETISNPVT LTCDATGIPP PTIAWLKNHK RIENSDSLEV
3210 3220 3230 3240 3250
RILSGGSKLQ IARSQHSDSG NYTCIASNME GKAQKYYFLS IQVPPSVAGA
3260 3270 3280 3290 3300
EIPSDVSVLL GENVELVCNA NGIPTPLIQW LKDGKPIASG ETERIRVSAN
3310 3320 3330 3340 3350
GSTLNIYGAL TSDTGKYTCV ATNPAGEEDR IFNLNVYVTP TIRGNKDEAE
3360 3370 3380 3390 3400
KLMTLVDTSI NIECRATGTP PPQINWLKNG LPLPLSSHIR LLAAGQVIRI
3410 3420 3430 3440 3450
VRAQVSDVAV YTCVASNRAG VDNKHYNLQV FAPPNMDNSM GTEEITVLKG
3460 3470 3480 3490 3500
SSTSMACITD GTPAPSMAWL RDGQPLGLDA HLTVSTHGMV LQLLKAETED
3510 3520 3530 3540 3550
SGKYTCIASN EAGEVSKHFI LKVLEPPHIN GSEEHEEISV IVNNPLELTC
3560 3570 3580 3590 3600
IASGIPAPKM TWMKDGRPLP QTDQVQTLGG GEVLRISTAQ VEDTGRYTCL
3610 3620 3630 3640 3650
ASSPAGDDDK EYLVRVHVPP NIAGTDEPRD ITVLRNRQVT LECKSDAVPP
3660 3670 3680 3690 3700
PVITWLRNGE RLQATPRVRI LSGGRYLQIN NADLGDTANY TCVASNIAGK
3710 3720 3730 3740 3750
TTREFILTVN VPPNIKGGPQ SLVILLNKST VLECIAEGVP TPRITWRKDG
3760 3770 3780 3790 3800
AVLAGNHARY SILENGFLHI QSAHVTDTGR YLCMATNAAG TDRRRIDLQV
3810 3820 3830 3840 3850
HVPPSIAPGP TNMTVIVNVQ TTLACEATGI PKPSINWRKN GHLLNVDQNQ
3860 3870 3880 3890 3900
NSYRLLSSGS LVIISPSVDD TATYECTVTN GAGDDKRTVD LTVQVPPSIA
3910 3920 3930 3940 3950
DEPTDFLVTK HAPAVITCTA SGVPFPSIHW TKNGIRLLPR GDGYRILSSG
3960 3970 3980 3990 4000
AIEILATQLN HAGRYTCVAR NAAGSAHRHV TLHVHEPPVI QPQPSELHVI
4010 4020 4030 4040 4050
LNNPILLPCE ATGTPSPFIT WQKEGINVNT SGRNHAVLPS GGLQISRAVR
4060 4070 4080 4090 4100
EDAGTYMCVA QNPAGTALGK IKLNVQVPPV ISPHLKEYVI AVDKPITLSC
4110 4120 4130 4140 4150
EADGLPPPDI TWHKDGRAIV ESIRQRVLSS GSLQIAFVQP GDAGHYTCMA
4160 4170 4180 4190 4200
ANVAGSSSTS TKLTVHVPPR IRSTEGHYTV NENSQAILPC VADGIPTPAI
4210 4220 4230 4240 4250
NWKKDNVLLA NLLGKYTAEP YGELILENVV LEDSGFYTCV ANNAAGEDTH
4260 4270 4280 4290 4300
TVSLTVHVLP TFTELPGDVS LNKGEQLRLS CKATGIPLPK LTWTFNNNII
4310 4320 4330 4340 4350
PAHFDSVNGH SELVIERVSK EDSGTYVCTA ENSVGFVKAI GFVYVKEPPV
4360 4370 4380 4390 4400
FKGDYPSNWI EPLGGNAILN CEVKGDPTPT IQWNRKGVDI EISHRIRQLG
4410 4420 4430 4440 4450
NGSLAIYGTV NEDAGDYTCV ATNEAGVVER SMSLTLQSPP IITLEPVETV
4460 4470 4480 4490 4500
INAGGKIILN CQATGEPQPT ITWSRQGHSI SWDDRVNVLS NNSLYIADAQ
4510 4520 4530 4540 4550
KEDTSEFECV ARNLMGSVLV RVPVIVQVHG GFSQWSAWRA CSVTCGKGIQ
4560 4570 4580 4590 4600
KRSRLCNQPL PANGGKPCQG SDLEMRNCQN KPCPVDGSWS EWSLWEECTR
4610 4620 4630 4640 4650
SCGRGNQTRT RTCNNPSVQH GGRPCEGNAV EIIMCNIRPC PVHGAWSAWQ
4660 4670 4680 4690 4700
PWGTCSESCG KGTQTRARLC NNPPPAFGGS YCDGAETQMQ VCNERNCPIH
4710 4720 4730 4740 4750
GKWATWASWS ACSVSCGGGA RQRTRGCSDP VPQYGGRKCE GSDVQSDFCN
4760 4770 4780 4790 4800
SDPCPTHGNW SPWSGWGTCS RTCNGGQMRR YRTCDNPPPS NGGRACGGPD
4810 4820 4830 4840 4850
SQIQRCNTDM CPVDGSWGSW HSWSQCSASC GGGEKTRKRL CDHPVPVKGG
4860 4870 4880 4890 4900
RPCPGDTTQV TRCNVQACPG GPQRARGSVI GNINDVEFGI AFLNATITDS
4910 4920 4930 4940 4950
PNSDTRIIRA KITNVPRSLG SAMRKIVSIL NPIYWTTAKE IGEAVNGFTL
4960 4970 4980 4990 5000
TNAVFKRETQ VEFATGEILQ MSHIARGLDS DGSLLLDIVV SGYVLQLQSP
5010 5020 5030 5040 5050
AEVTVKDYTE DYIQTGPGQL YAYSTRLFTI DGISIPYTWN HTVFYDQAQG
5060 5070 5080 5090 5100
RMPFLVETLH ASSVESDYNQ IEETLGFKIH ASISKGDRSN QCPSGFTLDS
5110 5120 5130 5140 5150
VGPFCADEDE CAAGNPCSHS CHNAMGTYYC SCPKGLTIAA DGRTCQDIDE
5160 5170 5180 5190 5200
CALGRHTCHA GQDCDNTIGS YRCVVRCGSG FRRTSDGLSC QDINECQESS
5210 5220 5230 5240 5250
PCHQRCFNAI GSFHCGCEPG YQLKGRKCMD VNECRQNVCR PDQHCKNTRG
5260 5270 5280 5290 5300
GYKCIDLCPN GMTKAENGTC IDIDECKDGT HQCRYNQICE NTRGSYRCVC
5310 5320 5330 5340 5350
PRGYRSQGVG RPCMDINECE QVPKPCAHQC SNTPGSFKCI CPPGQHLLGD
5360 5370 5380 5390 5400
GKSCAGLERL PNYGTQYSSY NLARFSPVRN NYQPQQHYRQ YSHLYSSYSE
5410 5420 5430 5440 5450
YRNSRTSLSR TRRTIRKTCP EGSEASHDTC VDIDECENTD ACQHECKNTF
5460 5470 5480 5490 5500
GSYQCICPPG YQLTHNGKTC QDIDECLEQN VHCGPNRMCF NMRGSYQCID
5510 5520 5530 5540 5550
TPCPPNYQRD PVSGFCLKNC PPNDLECALS PYALEYKLVS LPFGIATNQD
5560 5570 5580 5590 5600
LIRLVAYTQD GVMHPRTTFL MVDEEQTVPF ALRDENLKGV VYTTRPLREA
5610 5620 5630
ETYRMRVRAS SYSANGTIEY QTTFIVYIAV SAYPY
Length:5,635
Mass (Da):613,390
Last modified:January 10, 2006 - v2
Checksum:i19AE01E5E2A27E2A
GO
Isoform 2 (identifier: Q96RW7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     5315-5431: Missing.

Show »
Length:5,518
Mass (Da):600,097
Checksum:iD3071680F944D366
GO
Isoform 3 (identifier: Q96RW7-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:555
Mass (Da):59,747
Checksum:iAE750AA925574A03
GO

Sequence cautioni

The sequence BAB71154.1 differs from that shown. Reason: Frameshift at position 657.
The sequence BAB71216.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti35 – 351I → F1 PublicationCurated
Sequence conflicti483 – 4831N → S1 PublicationCurated
Sequence conflicti1042 – 10421G → E1 PublicationCurated
Sequence conflicti1078 – 10781Q → L1 PublicationCurated
Sequence conflicti1153 – 11531T → I in BAB71216. (PubMed:14702039)Curated
Sequence conflicti1319 – 13191D → E1 PublicationCurated
Sequence conflicti1368 – 13681T → S1 PublicationCurated
Sequence conflicti1414 – 14141K → R in BAB71216. (PubMed:14702039)Curated
Sequence conflicti1461 – 14611N → K1 PublicationCurated
Sequence conflicti1570 – 15701E → K1 PublicationCurated
Sequence conflicti1664 – 16641K → N1 PublicationCurated
Sequence conflicti1688 – 16881I → F1 PublicationCurated
Sequence conflicti1775 – 17751I → V in BAB71216. (PubMed:14702039)Curated
Sequence conflicti1816 – 18161K → E in BAB71216. (PubMed:14702039)Curated
Sequence conflicti1959 – 19591R → C1 PublicationCurated
Sequence conflicti2073 – 20731A → T1 PublicationCurated
Sequence conflicti2184 – 21841E → EK1 PublicationCurated
Sequence conflicti2872 – 28721K → E1 PublicationCurated
Sequence conflicti3189 – 31891H → Y1 PublicationCurated
Sequence conflicti3355 – 33551L → Y1 PublicationCurated
Sequence conflicti4136 – 41361A → T1 PublicationCurated
Sequence conflicti4340 – 43401I → T1 PublicationCurated
Sequence conflicti4358 – 43581N → H1 PublicationCurated
Sequence conflicti4699 – 46991I → V1 PublicationCurated
Sequence conflicti5294 – 52941G → S1 PublicationCurated
Sequence conflicti5317 – 53171N → D1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1056 – 10561T → A.
Corresponds to variant rs7539719 [ dbSNP | Ensembl ].
VAR_049875
Natural varianti1184 – 11841V → F.
Corresponds to variant rs12239296 [ dbSNP | Ensembl ].
VAR_049876
Natural varianti1624 – 16241A → V.1 Publication
VAR_024811
Natural varianti2327 – 23271M → I.1 Publication
Corresponds to variant rs12067376 [ dbSNP | Ensembl ].
VAR_024812
Natural varianti2418 – 24181I → T.2 Publications
Corresponds to variant rs12129650 [ dbSNP | Ensembl ].
VAR_024813
Natural varianti2893 – 28931E → G.1 Publication
Corresponds to variant rs10798035 [ dbSNP | Ensembl ].
VAR_024814
Natural varianti4084 – 40841H → Y.1 Publication
Corresponds to variant rs41317489 [ dbSNP | Ensembl ].
VAR_024815
Natural varianti4437 – 44371Q → R.
Corresponds to variant rs10911825 [ dbSNP | Ensembl ].
VAR_049877
Natural varianti4720 – 47201A → T.1 Publication
Corresponds to variant rs6693069 [ dbSNP | Ensembl ].
VAR_024816
Natural varianti5087 – 50871D → V.1 Publication
Corresponds to variant rs41317507 [ dbSNP | Ensembl ].
VAR_024817
Natural varianti5345 – 53451Q → R in ARMD1. 1 Publication
VAR_024818

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 616616Missing in isoform 3. 1 PublicationVSP_016871Add
BLAST
Alternative sequencei1169 – 11713VPP → GES in isoform 3. 1 PublicationVSP_016872
Alternative sequencei1172 – 56354464Missing in isoform 3. 1 PublicationVSP_016873Add
BLAST
Alternative sequencei5315 – 5431117Missing in isoform 2. CuratedVSP_016874Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF156100 mRNA. Translation: AAK68690.1.
AK056336 mRNA. Translation: BAB71154.1. Sequence problems.
AK056557 mRNA. Translation: BAB71216.1. Different initiation.
BX928748
, AL135796, AL133553, AL133515, AL121996, AL118512, AL391824, AL135797 Genomic DNA. Translation: CAH74051.1.
AL121996
, AL135797, AL135796, AL133553, AL133515, AL118512, BX928748, AL391824 Genomic DNA. Translation: CAI17844.1.
AL133515
, BX928748, AL391824, AL135797, AL135796, AL133553, AL121996, AL118512 Genomic DNA. Translation: CAI17853.1.
AL135796
, AL118512, AL121996, AL133515, AL133553, AL135797, AL391824, BX928748 Genomic DNA. Translation: CAI17854.1.
AL133553
, AL118512, AL121996, AL133515, AL135796, AL135797, AL391824, BX928748 Genomic DNA. Translation: CAI17858.1.
AL118512
, BX928748, AL391824, AL135797, AL135796, AL133553, AL133515, AL121996 Genomic DNA. Translation: CAI17864.1.
AL391824
, AL118512, AL121996, AL133515, AL133553, AL135796, AL135797, BX928748 Genomic DNA. Translation: CAI17865.1.
AL135797
, AL118512, AL121996, AL133515, AL133553, AL135796, AL391824, BX928748 Genomic DNA. Translation: CAI17871.1.
AJ306906 mRNA. Translation: CAC37630.1.
CCDSiCCDS30956.1. [Q96RW7-1]
RefSeqiNP_114141.2. NM_031935.2. [Q96RW7-1]
UniGeneiHs.58877.

Genome annotation databases

EnsembliENST00000271588; ENSP00000271588; ENSG00000143341. [Q96RW7-1]
GeneIDi83872.
KEGGihsa:83872.
UCSCiuc001grq.1. human. [Q96RW7-1]
uc001grr.1. human. [Q96RW7-3]

Polymorphism databases

DMDMi85542049.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF156100 mRNA. Translation: AAK68690.1 .
AK056336 mRNA. Translation: BAB71154.1 . Sequence problems.
AK056557 mRNA. Translation: BAB71216.1 . Different initiation.
BX928748
, AL135796 , AL133553 , AL133515 , AL121996 , AL118512 , AL391824 , AL135797 Genomic DNA. Translation: CAH74051.1 .
AL121996
, AL135797 , AL135796 , AL133553 , AL133515 , AL118512 , BX928748 , AL391824 Genomic DNA. Translation: CAI17844.1 .
AL133515
, BX928748 , AL391824 , AL135797 , AL135796 , AL133553 , AL121996 , AL118512 Genomic DNA. Translation: CAI17853.1 .
AL135796
, AL118512 , AL121996 , AL133515 , AL133553 , AL135797 , AL391824 , BX928748 Genomic DNA. Translation: CAI17854.1 .
AL133553
, AL118512 , AL121996 , AL133515 , AL135796 , AL135797 , AL391824 , BX928748 Genomic DNA. Translation: CAI17858.1 .
AL118512
, BX928748 , AL391824 , AL135797 , AL135796 , AL133553 , AL133515 , AL121996 Genomic DNA. Translation: CAI17864.1 .
AL391824
, AL118512 , AL121996 , AL133515 , AL133553 , AL135796 , AL135797 , BX928748 Genomic DNA. Translation: CAI17865.1 .
AL135797
, AL118512 , AL121996 , AL133515 , AL133553 , AL135796 , AL391824 , BX928748 Genomic DNA. Translation: CAI17871.1 .
AJ306906 mRNA. Translation: CAC37630.1 .
CCDSi CCDS30956.1. [Q96RW7-1 ]
RefSeqi NP_114141.2. NM_031935.2. [Q96RW7-1 ]
UniGenei Hs.58877.

3D structure databases

ProteinModelPortali Q96RW7.
SMRi Q96RW7. Positions 416-4868, 4870-5083, 5105-5531.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123785. 2 interactions.
IntActi Q96RW7. 7 interactions.
STRINGi 9606.ENSP00000271588.

PTM databases

PhosphoSitei Q96RW7.

Polymorphism databases

DMDMi 85542049.

Proteomic databases

MaxQBi Q96RW7.
PaxDbi Q96RW7.
PRIDEi Q96RW7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000271588 ; ENSP00000271588 ; ENSG00000143341 . [Q96RW7-1 ]
GeneIDi 83872.
KEGGi hsa:83872.
UCSCi uc001grq.1. human. [Q96RW7-1 ]
uc001grr.1. human. [Q96RW7-3 ]

Organism-specific databases

CTDi 83872.
GeneCardsi GC01P185703.
H-InvDB HIX0001425.
HGNCi HGNC:19194. HMCN1.
HPAi HPA051677.
MIMi 603075. phenotype.
608548. gene.
neXtProti NX_Q96RW7.
Orphaneti 279. Age-related macular degeneration.
PharmGKBi PA142671679.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00760000118806.
HOGENOMi HOG000231553.
HOVERGENi HBG080319.
InParanoidi Q96RW7.
KOi K17341.
OMAi NVAGKTE.
OrthoDBi EOG7SXW2B.
PhylomeDBi Q96RW7.

Miscellaneous databases

GeneWikii HMCN1.
GenomeRNAii 83872.
NextBioi 72899.
PROi Q96RW7.
SOURCEi Search...

Gene expression databases

Bgeei Q96RW7.
CleanExi HS_HMCN1.
ExpressionAtlasi Q96RW7. baseline and differential.
Genevestigatori Q96RW7.

Family and domain databases

Gene3Di 2.40.155.10. 1 hit.
2.60.40.10. 44 hits.
InterProi IPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
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_N_dom.
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 ]
Pfami 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 ]
SMARTi 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 ]
SUPFAMi SSF53300. SSF53300. 1 hit.
SSF54511. SSF54511. 1 hit.
SSF57184. SSF57184. 3 hits.
SSF82895. SSF82895. 6 hits.
PROSITEi PS00010. ASX_HYDROXYL. 5 hits.
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.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., 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).

Entry informationi

Entry nameiHMCN1_HUMAN
AccessioniPrimary (citable) accession number: Q96RW7
Secondary accession number(s): A6NGE3
, Q5TYR7, Q96DN3, Q96DN8, Q96SC3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: October 29, 2014
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3