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Q96RW7 (HMCN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hemicentin-1
Alternative name(s):
Fibulin-6
Short name=FIBL-6
Gene names
Name:HMCN1
Synonyms:FIBL6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length5635 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Secretedextracellular spaceextracellular matrixbasement 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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 56355614Hemicentin-1
PRO_0000045391

Regions

Domain41 – 216176VWFA
Domain431 – 51787Ig-like C2-type 1
Domain520 – 60788Ig-like C2-type 2
Domain612 – 69786Ig-like C2-type 3
Domain702 – 78887Ig-like C2-type 4
Domain793 – 88391Ig-like C2-type 5
Domain890 – 97687Ig-like C2-type 6
Domain981 – 106787Ig-like C2-type 7
Domain1072 – 116695Ig-like C2-type 8
Domain1171 – 125585Ig-like C2-type 9
Domain1262 – 135493Ig-like C2-type 10
Domain1358 – 144790Ig-like C2-type 11
Domain1452 – 154190Ig-like C2-type 12
Domain1546 – 163489Ig-like C2-type 13
Domain1638 – 172487Ig-like C2-type 14
Domain1733 – 182189Ig-like C2-type 15
Domain1826 – 191489Ig-like C2-type 16
Domain1919 – 200789Ig-like C2-type 17
Domain2012 – 209786Ig-like C2-type 18
Domain2104 – 219087Ig-like C2-type 19
Domain2195 – 228591Ig-like C2-type 20
Domain2290 – 237990Ig-like C2-type 21
Domain2384 – 247087Ig-like C2-type 22
Domain2478 – 256487Ig-like C2-type 23
Domain2571 – 266292Ig-like C2-type 24
Domain2666 – 276398Ig-like C2-type 25
Domain2766 – 286499Ig-like C2-type 26
Domain2868 – 295992Ig-like C2-type 27
Domain2964 – 305188Ig-like C2-type 28
Domain3056 – 314691Ig-like C2-type 29
Domain3151 – 324090Ig-like C2-type 30
Domain3245 – 333591Ig-like C2-type 31
Domain3340 – 342990Ig-like C2-type 32
Domain3434 – 351683Ig-like C2-type 33
Domain3527 – 361589Ig-like C2-type 34
Domain3620 – 370889Ig-like C2-type 35
Domain3713 – 379785Ig-like C2-type 36
Domain3804 – 389289Ig-like C2-type 37
Domain3897 – 398387Ig-like C2-type 38
Domain3988 – 407689Ig-like C2-type 39
Domain4079 – 416486Ig-like C2-type 40
Domain4169 – 425587Ig-like C2-type 41
Domain4260 – 434485Ig-like C2-type 42
Domain4348 – 443588Ig-like C2-type 43
Domain4440 – 452788Ig-like C2-type 44
Domain4529 – 458456TSP type-1 1
Domain4586 – 464156TSP type-1 2
Domain4643 – 469856TSP type-1 3
Domain4700 – 475556TSP type-1 4
Domain4757 – 481256TSP type-1 5
Domain4814 – 486956TSP type-1 6
Domain4871 – 5093223Nidogen G2 beta-barrel
Domain5107 – 514640EGF-like 1; calcium-binding Potential
Domain5147 – 519145EGF-like 2; calcium-binding Potential
Domain5192 – 522938EGF-like 3; calcium-binding Potential
Domain5230 – 527142EGF-like 4; calcium-binding Potential
Domain5272 – 530736EGF-like 5; calcium-binding Potential
Domain5315 – 535541EGF-like 6; calcium-binding Potential
Domain5432 – 547140EGF-like 7; calcium-binding Potential

Amino acid modifications

Glycosylation3491N-linked (GlcNAc...) Potential
Glycosylation3901N-linked (GlcNAc...) Potential
Glycosylation5281N-linked (GlcNAc...) Potential
Glycosylation5501N-linked (GlcNAc...) Potential
Glycosylation5731N-linked (GlcNAc...) Potential
Glycosylation6201N-linked (GlcNAc...) Potential
Glycosylation6931N-linked (GlcNAc...) Potential
Glycosylation8091N-linked (GlcNAc...) Potential
Glycosylation9701N-linked (GlcNAc...) Potential
Glycosylation11581N-linked (GlcNAc...) Potential
Glycosylation12721N-linked (GlcNAc...) Potential
Glycosylation13691N-linked (GlcNAc...) Potential
Glycosylation15521N-linked (GlcNAc...) Potential
Glycosylation19291N-linked (GlcNAc...) Potential
Glycosylation21121N-linked (GlcNAc...) Potential
Glycosylation21551N-linked (GlcNAc...) Potential
Glycosylation23951N-linked (GlcNAc...) Potential
Glycosylation26891N-linked (GlcNAc...) Potential
Glycosylation28871N-linked (GlcNAc...) Potential
Glycosylation29731N-linked (GlcNAc...) Potential
Glycosylation32211N-linked (GlcNAc...) Potential
Glycosylation33001N-linked (GlcNAc...) Potential
Glycosylation35301N-linked (GlcNAc...) Potential
Glycosylation36891N-linked (GlcNAc...) Potential
Glycosylation37271N-linked (GlcNAc...) Potential
Glycosylation38121N-linked (GlcNAc...) Potential
Glycosylation40291N-linked (GlcNAc...) Potential
Glycosylation44011N-linked (GlcNAc...) Potential
Glycosylation44911N-linked (GlcNAc...) Potential
Glycosylation46061N-linked (GlcNAc...) Potential
Glycosylation48941N-linked (GlcNAc...) Potential
Glycosylation50401N-linked (GlcNAc...) Potential
Glycosylation52671N-linked (GlcNAc...) Potential
Glycosylation56151N-linked (GlcNAc...) Potential
Disulfide bond451 ↔ 499 By similarity
Disulfide bond541 ↔ 591 By similarity
Disulfide bond633 ↔ 681 By similarity
Disulfide bond723 ↔ 772 By similarity
Disulfide bond814 ↔ 867 By similarity
Disulfide bond911 ↔ 960 By similarity
Disulfide bond1002 ↔ 1051 By similarity
Disulfide bond1101 ↔ 1150 By similarity
Disulfide bond1192 ↔ 1241 By similarity
Disulfide bond1288 ↔ 1338 By similarity
Disulfide bond1382 ↔ 1431 By similarity
Disulfide bond1475 ↔ 1525 By similarity
Disulfide bond1569 ↔ 1618 By similarity
Disulfide bond1663 ↔ 1712 By similarity
Disulfide bond1756 ↔ 1805 By similarity
Disulfide bond1848 ↔ 1898 By similarity
Disulfide bond1942 ↔ 1991 By similarity
Disulfide bond2033 ↔ 2083 By similarity
Disulfide bond2125 ↔ 2174 By similarity
Disulfide bond2218 ↔ 2269 By similarity
Disulfide bond2314 ↔ 2363 By similarity
Disulfide bond2408 ↔ 2457 By similarity
Disulfide bond2501 ↔ 2550 By similarity
Disulfide bond2597 ↔ 2646 By similarity
Disulfide bond2696 ↔ 2745 By similarity
Disulfide bond2799 ↔ 2848 By similarity
Disulfide bond2894 ↔ 2943 By similarity
Disulfide bond2986 ↔ 3035 By similarity
Disulfide bond3081 ↔ 3130 By similarity
Disulfide bond3173 ↔ 3224 By similarity
Disulfide bond3268 ↔ 3319 By similarity
Disulfide bond3364 ↔ 3413 By similarity
Disulfide bond3457 ↔ 3506 By similarity
Disulfide bond3550 ↔ 3599 By similarity
Disulfide bond3643 ↔ 3692 By similarity
Disulfide bond3734 ↔ 3783 By similarity
Disulfide bond3825 ↔ 3876 By similarity
Disulfide bond3918 ↔ 3967 By similarity
Disulfide bond4009 ↔ 4058 By similarity
Disulfide bond4100 ↔ 4148 By similarity
Disulfide bond4190 ↔ 4239 By similarity
Disulfide bond4281 ↔ 4328 By similarity
Disulfide bond4371 ↔ 4419 By similarity
Disulfide bond4461 ↔ 4509 By similarity
Disulfide bond4541 ↔ 4578 By similarity
Disulfide bond4545 ↔ 4583 By similarity
Disulfide bond4556 ↔ 4568 By similarity
Disulfide bond4598 ↔ 4635 By similarity
Disulfide bond4602 ↔ 4640 By similarity
Disulfide bond4613 ↔ 4625 By similarity
Disulfide bond4655 ↔ 4692 By similarity
Disulfide bond4659 ↔ 4697 By similarity
Disulfide bond4670 ↔ 4682 By similarity
Disulfide bond4712 ↔ 4749 By similarity
Disulfide bond4716 ↔ 4754 By similarity
Disulfide bond4727 ↔ 4739 By similarity
Disulfide bond4769 ↔ 4806 By similarity
Disulfide bond4773 ↔ 4811 By similarity
Disulfide bond4784 ↔ 4796 By similarity
Disulfide bond4826 ↔ 4863 By similarity
Disulfide bond4830 ↔ 4868 By similarity
Disulfide bond4841 ↔ 4853 By similarity
Disulfide bond5111 ↔ 5121 By similarity
Disulfide bond5117 ↔ 5130 By similarity
Disulfide bond5132 ↔ 5145 By similarity
Disulfide bond5196 ↔ 5206 By similarity
Disulfide bond5202 ↔ 5215 By similarity
Disulfide bond5217 ↔ 5228 By similarity
Disulfide bond5276 ↔ 5289 By similarity
Disulfide bond5283 ↔ 5298 By similarity
Disulfide bond5319 ↔ 5330 By similarity
Disulfide bond5326 ↔ 5339 By similarity
Disulfide bond5341 ↔ 5354 By similarity
Disulfide bond5436 ↔ 5446 By similarity
Disulfide bond5442 ↔ 5455 By similarity
Disulfide bond5457 ↔ 5470 By similarity

Natural variations

Alternative sequence1 – 616616Missing in isoform 3.
VSP_016871
Alternative sequence1169 – 11713VPP → GES in isoform 3.
VSP_016872
Alternative sequence1172 – 56354464Missing in isoform 3.
VSP_016873
Alternative sequence5315 – 5431117Missing in isoform 2.
VSP_016874
Natural variant10561T → A.
Corresponds to variant rs7539719 [ dbSNP | Ensembl ].
VAR_049875
Natural variant11841V → F.
Corresponds to variant rs12239296 [ dbSNP | Ensembl ].
VAR_049876
Natural variant16241A → V. Ref.5
VAR_024811
Natural variant23271M → I. Ref.5
Corresponds to variant rs12067376 [ dbSNP | Ensembl ].
VAR_024812
Natural variant24181I → T. Ref.1 Ref.5
Corresponds to variant rs12129650 [ dbSNP | Ensembl ].
VAR_024813
Natural variant28931E → G. Ref.5
Corresponds to variant rs10798035 [ dbSNP | Ensembl ].
VAR_024814
Natural variant40841H → Y. Ref.5
Corresponds to variant rs41317489 [ dbSNP | Ensembl ].
VAR_024815
Natural variant44371Q → R.
Corresponds to variant rs10911825 [ dbSNP | Ensembl ].
VAR_049877
Natural variant47201A → T. Ref.5
Corresponds to variant rs6693069 [ dbSNP | Ensembl ].
VAR_024816
Natural variant50871D → V. Ref.5
Corresponds to variant rs41317507 [ dbSNP | Ensembl ].
VAR_024817
Natural variant53451Q → R in ARMD1. Ref.5
VAR_024818

Experimental info

Sequence conflict351I → F Ref.1
Sequence conflict4831N → S Ref.1
Sequence conflict10421G → E Ref.1
Sequence conflict10781Q → L Ref.1
Sequence conflict11531T → I in BAB71216. Ref.2
Sequence conflict13191D → E Ref.1
Sequence conflict13681T → S Ref.1
Sequence conflict14141K → R in BAB71216. Ref.2
Sequence conflict14611N → K Ref.1
Sequence conflict15701E → K Ref.1
Sequence conflict16641K → N Ref.1
Sequence conflict16881I → F Ref.1
Sequence conflict17751I → V in BAB71216. Ref.2
Sequence conflict18161K → E in BAB71216. Ref.2
Sequence conflict19591R → C Ref.1
Sequence conflict20731A → T Ref.1
Sequence conflict21841E → EK Ref.1
Sequence conflict28721K → E Ref.1
Sequence conflict31891H → Y Ref.1
Sequence conflict33551L → Y Ref.1
Sequence conflict41361A → T Ref.4
Sequence conflict43401I → T Ref.1
Sequence conflict43581N → H Ref.4
Sequence conflict46991I → V Ref.4
Sequence conflict52941G → S Ref.1
Sequence conflict53171N → D Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 10, 2006. Version 2.
Checksum: 19AE01E5E2A27E2A

FASTA5,635613,390
        10         20         30         40         50         60 
MISWEVVHTV FLFALLYSSL AQDASPQSEI RAEEIPEGAS TLAFVFDVTG SMYDDLVQVI 

        70         80         90        100        110        120 
EGASKILETS LKRPKRPLFN FALVPFHDPE IGPVTITTDP KKFQYELREL YVQGGGDCPE 

       130        140        150        160        170        180 
MSIGAIKIAL EISLPGSFIY VFTDARSKDY RLTHEVLQLI QQKQSQVVFV LTGDCDDRTH 

       190        200        210        220        230        240 
IGYKVYEEIA STSSGQVFHL DKKQVNEVLK WVEEAVQASK VHLLSTDHLE QAVNTWRIPF 

       250        260        270        280        290        300 
DPSLKEVTVS LSGPSPMIEI RNPLGKLIKK GFGLHELLNI HNSAKVVNVK EPEAGMWTVK 

       310        320        330        340        350        360 
TSSSGRHSVR ITGLSTIDFR AGFSRKPTLD FKKTVSRPVQ GIPTYVLLNT SGISTPARID 

       370        380        390        400        410        420 
LLELLSISGS SLKTIPVKYY PHRKPYGIWN ISDFVPPNEA FFLKVTGYDK DDYLFQRVSS 

       430        440        450        460        470        480 
VSFSSIVPDA PKVTMPEKTP GYYLQPGQIP CSVDSLLPFT LSFVRNGVTL GVDQYLKESA 

       490        500        510        520        530        540 
SVNLDIAKVT LSDEGFYECI AVSSAGTGRA QTFFDVSEPP PVIQVPNNVT VTPGERAVLT 

       550        560        570        580        590        600 
CLIISAVDYN LTWQRNDRDV RLAEPARIRT LANLSLELKS VKFNDAGEYH CMVSSEGGSS 

       610        620        630        640        650        660 
AASVFLTVQE PPKVTVMPKN QSFTGGSEVS IMCSATGYPK PKIAWTVNDM FIVGSHRYRM 

       670        680        690        700        710        720 
TSDGTLFIKN AAPKDAGIYG CLASNSAGTD KQNSTLRYIE APKLMVVQSE LLVALGDITV 

       730        740        750        760        770        780 
MECKTSGIPP PQVKWFKGDL ELRPSTFLII DPLLGLLKIQ ETQDLDAGDY TCVAINEAGR 

       790        800        810        820        830        840 
ATGKITLDVG SPPVFIQEPA DVSMEIGSNV TLPCYVQGYP EPTIKWRRLD NMPIFSRPFS 

       850        860        870        880        890        900 
VSSISQLRTG ALFILNLWAS DKGTYICEAE NQFGKIQSET TVTVTGLVAP LIGISPSVAN 

       910        920        930        940        950        960 
VIEGQQLTLP CTLLAGNPIP ERRWIKNSAM LLQNPYITVR SDGSLHIERV QLQDGGEYTC 

       970        980        990       1000       1010       1020 
VASNVAGTNN KTTSVVVHVL PTIQHGQQIL STIEGIPVTL PCKASGNPKP SVIWSKKGEL 

      1030       1040       1050       1060       1070       1080 
ISTSSAKFSA GADGSLYVVS PGGEESGEYV CTATNTAGYA KRKVQLTVYV RPRVFGDQRG 

      1090       1100       1110       1120       1130       1140 
LSQDKPVEIS VLAGEEVTLP CEVKSLPPPI ITWAKETQLI SPFSPRHTFL PSGSMKITET 

      1150       1160       1170       1180       1190       1200 
RTSDSGMYLC VATNIAGNVT QAVKLNVHVP PKIQRGPKHL KVQVGQRVDI PCNAQGTPLP 

      1210       1220       1230       1240       1250       1260 
VITWSKGGST MLVDGEHHVS NPDGTLSIDQ ATPSDAGIYT CVATNIAGTD ETEITLHVQE 

      1270       1280       1290       1300       1310       1320 
PPTVEDLEPP YNTTFQERVA NQRIEFPCPA KGTPKPTIKW LHNGRELTGR EPGISILEDG 

      1330       1340       1350       1360       1370       1380 
TLLVIASVTP YDNGEYICVA VNEAGTTERK YNLKVHVPPV IKDKEQVTNV SVLLNQLTNL 

      1390       1400       1410       1420       1430       1440 
FCEVEGTPSP IIMWYKDNVQ VTESSTIQTV NNGKILKLFR ATPEDAGRYS CKAINIAGTS 

      1450       1460       1470       1480       1490       1500 
QKYFNIDVLV PPTIIGTNFP NEVSVVLNRD VALECQVKGT PFPDIHWFKD GKPLFLGDPN 

      1510       1520       1530       1540       1550       1560 
VELLDRGQVL HLKNARRNDK GRYQCTVSNA AGKQAKDIKL TIYIPPSIKG GNVTTDISVL 

      1570       1580       1590       1600       1610       1620 
INSLIKLECE TRGLPMPAIT WYKDGQPIMS SSQALYIDKG QYLHIPRAQV SDSATYTCHV 

      1630       1640       1650       1660       1670       1680 
ANVAGTAEKS FHVDVYVPPM IEGNLATPLN KQVVIAHSLT LECKAAGNPS PILTWLKDGV 

      1690       1700       1710       1720       1730       1740 
PVKANDNIRI EAGGKKLEIM SAQEIDRGQY ICVATSVAGE KEIKYEVDVL VPPAIEGGDE 

      1750       1760       1770       1780       1790       1800 
TSYFIVMVNN LLELDCHVTG SPPPTIMWLK DGQLIDERDG FKILLNGRKL VIAQAQVSNT 

      1810       1820       1830       1840       1850       1860 
GLYRCMAANT AGDHKKEFEV TVHVPPTIKS SGLSERVVVK YKPVALQCIA NGIPNPSITW 

      1870       1880       1890       1900       1910       1920 
LKDDQPVNTA QGNLKIQSSG RVLQIAKTLL EDAGRYTCVA TNAAGETQQH IQLHVHEPPS 

      1930       1940       1950       1960       1970       1980 
LEDAGKMLNE TVLVSNPVQL ECKAAGNPVP VITWYKDNRL LSGSTSMTFL NRGQIIDIES 

      1990       2000       2010       2020       2030       2040 
AQISDAGIYK CVAINSAGAT ELFYSLQVHV APSISGSNNM VAVVVNNPVR LECEARGIPA 

      2050       2060       2070       2080       2090       2100 
PSLTWLKDGS PVSSFSNGLQ VLSGGRILAL TSAQISDTGR YTCVAVNAAG EKQRDIDLRV 

      2110       2120       2130       2140       2150       2160 
YVPPNIMGEE QNVSVLISQA VELLCQSDAI PPPTLTWLKD GHPLLKKPGL SISENRSVLK 

      2170       2180       2190       2200       2210       2220 
IEDAQVQDTG RYTCEATNVA GKTEKNYNVN IWVPPNIGGS DELTQLTVIE GNLISLLCES 

      2230       2240       2250       2260       2270       2280 
SGIPPPNLIW KKKGSPVLTD SMGRVRILSG GRQLQISIAE KSDAALYSCV ASNVAGTAKK 

      2290       2300       2310       2320       2330       2340 
EYNLQVYIRP TITNSGSHPT EIIVTRGKSI SLECEVQGIP PPTVTWMKDG HPLIKAKGVE 

      2350       2360       2370       2380       2390       2400 
ILDEGHILQL KNIHVSDTGR YVCVAVNVAG MTDKKYDLSV HAPPSIIGNH RSPENISVVE 

      2410       2420       2430       2440       2450       2460 
KNSVSLTCEA SGIPLPSITW FKDGWPVSLS NSVRILSGGR MLRLMQTTME DAGQYTCVVR 

      2470       2480       2490       2500       2510       2520 
NAAGEERKIF GLSVLVPPHI VGENTLEDVK VKEKQSVTLT CEVTGNPVPE ITWHKDGQPL 

      2530       2540       2550       2560       2570       2580 
QEDEAHHIIS GGRFLQITNV QVPHTGRYTC LASSPAGHKS RSFSLNVFVS PTIAGVGSDG 

      2590       2600       2610       2620       2630       2640 
NPEDVTVILN SPTSLVCEAY SYPPATITWF KDGTPLESNR NIRILPGGRT LQILNAQEDN 

      2650       2660       2670       2680       2690       2700 
AGRYSCVATN EAGEMIKHYE VKVYIPPIIN KGDLWGPGLS PKEVKIKVNN TLTLECEAYA 

      2710       2720       2730       2740       2750       2760 
IPSASLSWYK DGQPLKSDDH VNIAANGHTL QIKEAQISDT GRYTCVASNI AGEDELDFDV 

      2770       2780       2790       2800       2810       2820 
NIQVPPSFQK LWEIGNMLDT GRNGEAKDVI INNPISLYCE TNAAPPPTLT WYKDGHPLTS 

      2830       2840       2850       2860       2870       2880 
SDKVLILPGG RVLQIPRAKV EDAGRYTCVA VNEAGEDSLQ YDVRVLVPPI IKGANSDLPE 

      2890       2900       2910       2920       2930       2940 
EVTVLVNKSA LIECLSSGSP APRNSWQKDG QPLLEDDHHK FLSNGRILQI LNTQITDIGR 

      2950       2960       2970       2980       2990       3000 
YVCVAENTAG SAKKYFNLNV HVPPSVIGPK SENLTVVVNN FISLTCEVSG FPPPDLSWLK 

      3010       3020       3030       3040       3050       3060 
NEQPIKLNTN TLIVPGGRTL QIIRAKVSDG GEYTCIAINQ AGESKKKFSL TVYVPPSIKD 

      3070       3080       3090       3100       3110       3120 
HDSESLSVVN VREGTSVSLE CESNAVPPPV ITWYKNGRMI TESTHVEILA DGQMLHIKKA 

      3130       3140       3150       3160       3170       3180 
EVSDTGQYVC RAINVAGRDD KNFHLNVYVP PSIEGPEREV IVETISNPVT LTCDATGIPP 

      3190       3200       3210       3220       3230       3240 
PTIAWLKNHK RIENSDSLEV RILSGGSKLQ IARSQHSDSG NYTCIASNME GKAQKYYFLS 

      3250       3260       3270       3280       3290       3300 
IQVPPSVAGA EIPSDVSVLL GENVELVCNA NGIPTPLIQW LKDGKPIASG ETERIRVSAN 

      3310       3320       3330       3340       3350       3360 
GSTLNIYGAL TSDTGKYTCV ATNPAGEEDR IFNLNVYVTP TIRGNKDEAE KLMTLVDTSI 

      3370       3380       3390       3400       3410       3420 
NIECRATGTP PPQINWLKNG LPLPLSSHIR LLAAGQVIRI VRAQVSDVAV YTCVASNRAG 

      3430       3440       3450       3460       3470       3480 
VDNKHYNLQV FAPPNMDNSM GTEEITVLKG SSTSMACITD GTPAPSMAWL RDGQPLGLDA 

      3490       3500       3510       3520       3530       3540 
HLTVSTHGMV LQLLKAETED SGKYTCIASN EAGEVSKHFI LKVLEPPHIN GSEEHEEISV 

      3550       3560       3570       3580       3590       3600 
IVNNPLELTC IASGIPAPKM TWMKDGRPLP QTDQVQTLGG GEVLRISTAQ VEDTGRYTCL 

      3610       3620       3630       3640       3650       3660 
ASSPAGDDDK EYLVRVHVPP NIAGTDEPRD ITVLRNRQVT LECKSDAVPP PVITWLRNGE 

      3670       3680       3690       3700       3710       3720 
RLQATPRVRI LSGGRYLQIN NADLGDTANY TCVASNIAGK TTREFILTVN VPPNIKGGPQ 

      3730       3740       3750       3760       3770       3780 
SLVILLNKST VLECIAEGVP TPRITWRKDG AVLAGNHARY SILENGFLHI QSAHVTDTGR 

      3790       3800       3810       3820       3830       3840 
YLCMATNAAG TDRRRIDLQV HVPPSIAPGP TNMTVIVNVQ TTLACEATGI PKPSINWRKN 

      3850       3860       3870       3880       3890       3900 
GHLLNVDQNQ NSYRLLSSGS LVIISPSVDD TATYECTVTN GAGDDKRTVD LTVQVPPSIA 

      3910       3920       3930       3940       3950       3960 
DEPTDFLVTK HAPAVITCTA SGVPFPSIHW TKNGIRLLPR GDGYRILSSG AIEILATQLN 

      3970       3980       3990       4000       4010       4020 
HAGRYTCVAR NAAGSAHRHV TLHVHEPPVI QPQPSELHVI LNNPILLPCE ATGTPSPFIT 

      4030       4040       4050       4060       4070       4080 
WQKEGINVNT SGRNHAVLPS GGLQISRAVR EDAGTYMCVA QNPAGTALGK IKLNVQVPPV 

      4090       4100       4110       4120       4130       4140 
ISPHLKEYVI AVDKPITLSC EADGLPPPDI TWHKDGRAIV ESIRQRVLSS GSLQIAFVQP 

      4150       4160       4170       4180       4190       4200 
GDAGHYTCMA ANVAGSSSTS TKLTVHVPPR IRSTEGHYTV NENSQAILPC VADGIPTPAI 

      4210       4220       4230       4240       4250       4260 
NWKKDNVLLA NLLGKYTAEP YGELILENVV LEDSGFYTCV ANNAAGEDTH TVSLTVHVLP 

      4270       4280       4290       4300       4310       4320 
TFTELPGDVS LNKGEQLRLS CKATGIPLPK LTWTFNNNII PAHFDSVNGH SELVIERVSK 

      4330       4340       4350       4360       4370       4380 
EDSGTYVCTA ENSVGFVKAI GFVYVKEPPV FKGDYPSNWI EPLGGNAILN CEVKGDPTPT 

      4390       4400       4410       4420       4430       4440 
IQWNRKGVDI EISHRIRQLG NGSLAIYGTV NEDAGDYTCV ATNEAGVVER SMSLTLQSPP 

      4450       4460       4470       4480       4490       4500 
IITLEPVETV INAGGKIILN CQATGEPQPT ITWSRQGHSI SWDDRVNVLS NNSLYIADAQ 

      4510       4520       4530       4540       4550       4560 
KEDTSEFECV ARNLMGSVLV RVPVIVQVHG GFSQWSAWRA CSVTCGKGIQ KRSRLCNQPL 

      4570       4580       4590       4600       4610       4620 
PANGGKPCQG SDLEMRNCQN KPCPVDGSWS EWSLWEECTR SCGRGNQTRT RTCNNPSVQH 

      4630       4640       4650       4660       4670       4680 
GGRPCEGNAV EIIMCNIRPC PVHGAWSAWQ PWGTCSESCG KGTQTRARLC NNPPPAFGGS 

      4690       4700       4710       4720       4730       4740 
YCDGAETQMQ VCNERNCPIH GKWATWASWS ACSVSCGGGA RQRTRGCSDP VPQYGGRKCE 

      4750       4760       4770       4780       4790       4800 
GSDVQSDFCN SDPCPTHGNW SPWSGWGTCS RTCNGGQMRR YRTCDNPPPS NGGRACGGPD 

      4810       4820       4830       4840       4850       4860 
SQIQRCNTDM CPVDGSWGSW HSWSQCSASC GGGEKTRKRL CDHPVPVKGG RPCPGDTTQV 

      4870       4880       4890       4900       4910       4920 
TRCNVQACPG GPQRARGSVI GNINDVEFGI AFLNATITDS PNSDTRIIRA KITNVPRSLG 

      4930       4940       4950       4960       4970       4980 
SAMRKIVSIL NPIYWTTAKE IGEAVNGFTL TNAVFKRETQ VEFATGEILQ MSHIARGLDS 

      4990       5000       5010       5020       5030       5040 
DGSLLLDIVV SGYVLQLQSP AEVTVKDYTE DYIQTGPGQL YAYSTRLFTI DGISIPYTWN 

      5050       5060       5070       5080       5090       5100 
HTVFYDQAQG RMPFLVETLH ASSVESDYNQ IEETLGFKIH ASISKGDRSN QCPSGFTLDS 

      5110       5120       5130       5140       5150       5160 
VGPFCADEDE CAAGNPCSHS CHNAMGTYYC SCPKGLTIAA DGRTCQDIDE CALGRHTCHA 

      5170       5180       5190       5200       5210       5220 
GQDCDNTIGS YRCVVRCGSG FRRTSDGLSC QDINECQESS PCHQRCFNAI GSFHCGCEPG 

      5230       5240       5250       5260       5270       5280 
YQLKGRKCMD VNECRQNVCR PDQHCKNTRG GYKCIDLCPN GMTKAENGTC IDIDECKDGT 

      5290       5300       5310       5320       5330       5340 
HQCRYNQICE NTRGSYRCVC PRGYRSQGVG RPCMDINECE QVPKPCAHQC SNTPGSFKCI 

      5350       5360       5370       5380       5390       5400 
CPPGQHLLGD GKSCAGLERL PNYGTQYSSY NLARFSPVRN NYQPQQHYRQ YSHLYSSYSE 

      5410       5420       5430       5440       5450       5460 
YRNSRTSLSR TRRTIRKTCP EGSEASHDTC VDIDECENTD ACQHECKNTF GSYQCICPPG 

      5470       5480       5490       5500       5510       5520 
YQLTHNGKTC QDIDECLEQN VHCGPNRMCF NMRGSYQCID TPCPPNYQRD PVSGFCLKNC 

      5530       5540       5550       5560       5570       5580 
PPNDLECALS PYALEYKLVS LPFGIATNQD LIRLVAYTQD GVMHPRTTFL MVDEEQTVPF 

      5590       5600       5610       5620       5630 
ALRDENLKGV VYTTRPLREA ETYRMRVRAS SYSANGTIEY QTTFIVYIAV SAYPY 

« Hide

Isoform 2 [UniParc].

Checksum: D3071680F944D366
Show »

FASTA5,518600,097
Isoform 3 [UniParc].

Checksum: AE750AA925574A03
Show »

FASTA55559,747

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. expand/collapse author list , 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. expand/collapse author list , 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).
+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 expand/collapse EMBL AC list , AL135796, AL133553, AL133515, AL121996, AL118512, AL391824, AL135797 Genomic DNA. Translation: CAH74051.1.
AL121996 expand/collapse EMBL AC list , AL135797, AL135796, AL133553, AL133515, AL118512, BX928748, AL391824 Genomic DNA. Translation: CAI17844.1.
AL133515 expand/collapse EMBL AC list , BX928748, AL391824, AL135797, AL135796, AL133553, AL121996, AL118512 Genomic DNA. Translation: CAI17853.1.
AL135796 expand/collapse EMBL AC list , AL118512, AL121996, AL133515, AL133553, AL135797, AL391824, BX928748 Genomic DNA. Translation: CAI17854.1.
AL133553 expand/collapse EMBL AC list , AL118512, AL121996, AL133515, AL135796, AL135797, AL391824, BX928748 Genomic DNA. Translation: CAI17858.1.
AL118512 expand/collapse EMBL AC list , BX928748, AL391824, AL135797, AL135796, AL133553, AL133515, AL121996 Genomic DNA. Translation: CAI17864.1.
AL391824 expand/collapse EMBL AC list , AL118512, AL121996, AL133515, AL133553, AL135796, AL135797, BX928748 Genomic DNA. Translation: CAI17865.1.
AL135797 expand/collapse EMBL AC list , AL118512, AL121996, AL133515, AL133553, AL135796, AL391824, BX928748 Genomic DNA. Translation: CAI17871.1.
AJ306906 mRNA. Translation: CAC37630.1.
RefSeqNP_114141.2. NM_031935.2.
UniGeneHs.58877.

3D structure databases

ProteinModelPortalQ96RW7.
SMRQ96RW7. Positions 427-4868, 4870-5083, 5105-5357, 5419-5531.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123785. 2 interactions.
IntActQ96RW7. 7 interactions.
STRING9606.ENSP00000271588.

PTM databases

PhosphoSiteQ96RW7.

Polymorphism databases

DMDM85542049.

Proteomic databases

PaxDbQ96RW7.
PRIDEQ96RW7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000271588; ENSP00000271588; ENSG00000143341. [Q96RW7-1]
ENST00000367492; ENSP00000356462; ENSG00000143341. [Q96RW7-2]
GeneID83872.
KEGGhsa:83872.
UCSCuc001grq.1. human. [Q96RW7-1]
uc001grr.1. human. [Q96RW7-3]

Organism-specific databases

CTD83872.
GeneCardsGC01P185703.
H-InvDBHIX0001425.
HGNCHGNC:19194. HMCN1.
HPAHPA051677.
MIM603075. phenotype.
608548. gene.
neXtProtNX_Q96RW7.
Orphanet279. Age-related macular degeneration.
PharmGKBPA142671679.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000231553.
HOVERGENHBG080319.
InParanoidQ96RW7.
KOK17341.
OMAVFHLDKK.
OrthoDBEOG7SXW2B.
PhylomeDBQ96RW7.

Gene expression databases

ArrayExpressQ96RW7.
BgeeQ96RW7.
CleanExHS_HMCN1.
GenevestigatorQ96RW7.

Family and domain databases

Gene3D2.40.155.10. 1 hit.
2.60.40.10. 44 hits.
InterProIPR026823. 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]
PfamPF12662. cEGF. 1 hit.
PF07645. EGF_CA. 6 hits.
PF07474. G2F. 1 hit.
PF07679. I-set. 43 hits.
PF00090. TSP_1. 6 hits.
[Graphical view]
SMARTSM00181. 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]
SUPFAMSSF53300. SSF53300. 1 hit.
SSF54511. SSF54511. 1 hit.
SSF57184. SSF57184. 3 hits.
SSF82895. SSF82895. 6 hits.
PROSITEPS00010. 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]
ProtoNetSearch...

Other

GeneWikiHMCN1.
GenomeRNAi83872.
NextBio72899.
PROQ96RW7.
SOURCESearch...

Entry information

Entry nameHMCN1_HUMAN
AccessionPrimary (citable) accession number: Q96RW7
Secondary accession number(s): A6NGE3 expand/collapse secondary AC list , Q5TYR7, Q96DN3, Q96DN8, Q96SC3
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: April 16, 2014
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM