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Q96RW7

- HMCN1_HUMAN

UniProt

Q96RW7 - HMCN1_HUMAN

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Protein
Hemicentin-1
Gene
HMCN1, FIBL6
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-SubCell
  2. cell cortex Source: Ensembl
  3. cell junction Source: Ensembl
  4. extracellular vesicular exosome Source: UniProt
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 2121 Reviewed prediction
Add
BLAST
Chaini22 – 56355614Hemicentin-1
PRO_0000045391Add
BLAST

Amino acid modifications

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

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

ArrayExpressiQ96RW7.
BgeeiQ96RW7.
CleanExiHS_HMCN1.
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 427-4868, 4870-5083, 5105-5357, 5419-5531.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 7 EGF-like domains.
Contains 6 TSP type-1 domains.
Contains 1 VWFA domain.

Keywords - Domaini

EGF-like domain, Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG12793.
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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MISWEVVHTV FLFALLYSSL AQDASPQSEI RAEEIPEGAS TLAFVFDVTG     50
SMYDDLVQVI EGASKILETS LKRPKRPLFN FALVPFHDPE IGPVTITTDP 100
KKFQYELREL YVQGGGDCPE MSIGAIKIAL EISLPGSFIY VFTDARSKDY 150
RLTHEVLQLI QQKQSQVVFV LTGDCDDRTH IGYKVYEEIA STSSGQVFHL 200
DKKQVNEVLK WVEEAVQASK VHLLSTDHLE QAVNTWRIPF DPSLKEVTVS 250
LSGPSPMIEI RNPLGKLIKK GFGLHELLNI HNSAKVVNVK EPEAGMWTVK 300
TSSSGRHSVR ITGLSTIDFR AGFSRKPTLD FKKTVSRPVQ GIPTYVLLNT 350
SGISTPARID LLELLSISGS SLKTIPVKYY PHRKPYGIWN ISDFVPPNEA 400
FFLKVTGYDK DDYLFQRVSS VSFSSIVPDA PKVTMPEKTP GYYLQPGQIP 450
CSVDSLLPFT LSFVRNGVTL GVDQYLKESA SVNLDIAKVT LSDEGFYECI 500
AVSSAGTGRA QTFFDVSEPP PVIQVPNNVT VTPGERAVLT CLIISAVDYN 550
LTWQRNDRDV RLAEPARIRT LANLSLELKS VKFNDAGEYH CMVSSEGGSS 600
AASVFLTVQE PPKVTVMPKN QSFTGGSEVS IMCSATGYPK PKIAWTVNDM 650
FIVGSHRYRM TSDGTLFIKN AAPKDAGIYG CLASNSAGTD KQNSTLRYIE 700
APKLMVVQSE LLVALGDITV MECKTSGIPP PQVKWFKGDL ELRPSTFLII 750
DPLLGLLKIQ ETQDLDAGDY TCVAINEAGR ATGKITLDVG SPPVFIQEPA 800
DVSMEIGSNV TLPCYVQGYP EPTIKWRRLD NMPIFSRPFS VSSISQLRTG 850
ALFILNLWAS DKGTYICEAE NQFGKIQSET TVTVTGLVAP LIGISPSVAN 900
VIEGQQLTLP CTLLAGNPIP ERRWIKNSAM LLQNPYITVR SDGSLHIERV 950
QLQDGGEYTC VASNVAGTNN KTTSVVVHVL PTIQHGQQIL STIEGIPVTL 1000
PCKASGNPKP SVIWSKKGEL ISTSSAKFSA GADGSLYVVS PGGEESGEYV 1050
CTATNTAGYA KRKVQLTVYV RPRVFGDQRG LSQDKPVEIS VLAGEEVTLP 1100
CEVKSLPPPI ITWAKETQLI SPFSPRHTFL PSGSMKITET RTSDSGMYLC 1150
VATNIAGNVT QAVKLNVHVP PKIQRGPKHL KVQVGQRVDI PCNAQGTPLP 1200
VITWSKGGST MLVDGEHHVS NPDGTLSIDQ ATPSDAGIYT CVATNIAGTD 1250
ETEITLHVQE PPTVEDLEPP YNTTFQERVA NQRIEFPCPA KGTPKPTIKW 1300
LHNGRELTGR EPGISILEDG TLLVIASVTP YDNGEYICVA VNEAGTTERK 1350
YNLKVHVPPV IKDKEQVTNV SVLLNQLTNL FCEVEGTPSP IIMWYKDNVQ 1400
VTESSTIQTV NNGKILKLFR ATPEDAGRYS CKAINIAGTS QKYFNIDVLV 1450
PPTIIGTNFP NEVSVVLNRD VALECQVKGT PFPDIHWFKD GKPLFLGDPN 1500
VELLDRGQVL HLKNARRNDK GRYQCTVSNA AGKQAKDIKL TIYIPPSIKG 1550
GNVTTDISVL INSLIKLECE TRGLPMPAIT WYKDGQPIMS SSQALYIDKG 1600
QYLHIPRAQV SDSATYTCHV ANVAGTAEKS FHVDVYVPPM IEGNLATPLN 1650
KQVVIAHSLT LECKAAGNPS PILTWLKDGV PVKANDNIRI EAGGKKLEIM 1700
SAQEIDRGQY ICVATSVAGE KEIKYEVDVL VPPAIEGGDE TSYFIVMVNN 1750
LLELDCHVTG SPPPTIMWLK DGQLIDERDG FKILLNGRKL VIAQAQVSNT 1800
GLYRCMAANT AGDHKKEFEV TVHVPPTIKS SGLSERVVVK YKPVALQCIA 1850
NGIPNPSITW LKDDQPVNTA QGNLKIQSSG RVLQIAKTLL EDAGRYTCVA 1900
TNAAGETQQH IQLHVHEPPS LEDAGKMLNE TVLVSNPVQL ECKAAGNPVP 1950
VITWYKDNRL LSGSTSMTFL NRGQIIDIES AQISDAGIYK CVAINSAGAT 2000
ELFYSLQVHV APSISGSNNM VAVVVNNPVR LECEARGIPA PSLTWLKDGS 2050
PVSSFSNGLQ VLSGGRILAL TSAQISDTGR YTCVAVNAAG EKQRDIDLRV 2100
YVPPNIMGEE QNVSVLISQA VELLCQSDAI PPPTLTWLKD GHPLLKKPGL 2150
SISENRSVLK IEDAQVQDTG RYTCEATNVA GKTEKNYNVN IWVPPNIGGS 2200
DELTQLTVIE GNLISLLCES SGIPPPNLIW KKKGSPVLTD SMGRVRILSG 2250
GRQLQISIAE KSDAALYSCV ASNVAGTAKK EYNLQVYIRP TITNSGSHPT 2300
EIIVTRGKSI SLECEVQGIP PPTVTWMKDG HPLIKAKGVE ILDEGHILQL 2350
KNIHVSDTGR YVCVAVNVAG MTDKKYDLSV HAPPSIIGNH RSPENISVVE 2400
KNSVSLTCEA SGIPLPSITW FKDGWPVSLS NSVRILSGGR MLRLMQTTME 2450
DAGQYTCVVR NAAGEERKIF GLSVLVPPHI VGENTLEDVK VKEKQSVTLT 2500
CEVTGNPVPE ITWHKDGQPL QEDEAHHIIS GGRFLQITNV QVPHTGRYTC 2550
LASSPAGHKS RSFSLNVFVS PTIAGVGSDG NPEDVTVILN SPTSLVCEAY 2600
SYPPATITWF KDGTPLESNR NIRILPGGRT LQILNAQEDN AGRYSCVATN 2650
EAGEMIKHYE VKVYIPPIIN KGDLWGPGLS PKEVKIKVNN TLTLECEAYA 2700
IPSASLSWYK DGQPLKSDDH VNIAANGHTL QIKEAQISDT GRYTCVASNI 2750
AGEDELDFDV NIQVPPSFQK LWEIGNMLDT GRNGEAKDVI INNPISLYCE 2800
TNAAPPPTLT WYKDGHPLTS SDKVLILPGG RVLQIPRAKV EDAGRYTCVA 2850
VNEAGEDSLQ YDVRVLVPPI IKGANSDLPE EVTVLVNKSA LIECLSSGSP 2900
APRNSWQKDG QPLLEDDHHK FLSNGRILQI LNTQITDIGR YVCVAENTAG 2950
SAKKYFNLNV HVPPSVIGPK SENLTVVVNN FISLTCEVSG FPPPDLSWLK 3000
NEQPIKLNTN TLIVPGGRTL QIIRAKVSDG GEYTCIAINQ AGESKKKFSL 3050
TVYVPPSIKD HDSESLSVVN VREGTSVSLE CESNAVPPPV ITWYKNGRMI 3100
TESTHVEILA DGQMLHIKKA EVSDTGQYVC RAINVAGRDD KNFHLNVYVP 3150
PSIEGPEREV IVETISNPVT LTCDATGIPP PTIAWLKNHK RIENSDSLEV 3200
RILSGGSKLQ IARSQHSDSG NYTCIASNME GKAQKYYFLS IQVPPSVAGA 3250
EIPSDVSVLL GENVELVCNA NGIPTPLIQW LKDGKPIASG ETERIRVSAN 3300
GSTLNIYGAL TSDTGKYTCV ATNPAGEEDR IFNLNVYVTP TIRGNKDEAE 3350
KLMTLVDTSI NIECRATGTP PPQINWLKNG LPLPLSSHIR LLAAGQVIRI 3400
VRAQVSDVAV YTCVASNRAG VDNKHYNLQV FAPPNMDNSM GTEEITVLKG 3450
SSTSMACITD GTPAPSMAWL RDGQPLGLDA HLTVSTHGMV LQLLKAETED 3500
SGKYTCIASN EAGEVSKHFI LKVLEPPHIN GSEEHEEISV IVNNPLELTC 3550
IASGIPAPKM TWMKDGRPLP QTDQVQTLGG GEVLRISTAQ VEDTGRYTCL 3600
ASSPAGDDDK EYLVRVHVPP NIAGTDEPRD ITVLRNRQVT LECKSDAVPP 3650
PVITWLRNGE RLQATPRVRI LSGGRYLQIN NADLGDTANY TCVASNIAGK 3700
TTREFILTVN VPPNIKGGPQ SLVILLNKST VLECIAEGVP TPRITWRKDG 3750
AVLAGNHARY SILENGFLHI QSAHVTDTGR YLCMATNAAG TDRRRIDLQV 3800
HVPPSIAPGP TNMTVIVNVQ TTLACEATGI PKPSINWRKN GHLLNVDQNQ 3850
NSYRLLSSGS LVIISPSVDD TATYECTVTN GAGDDKRTVD LTVQVPPSIA 3900
DEPTDFLVTK HAPAVITCTA SGVPFPSIHW TKNGIRLLPR GDGYRILSSG 3950
AIEILATQLN HAGRYTCVAR NAAGSAHRHV TLHVHEPPVI QPQPSELHVI 4000
LNNPILLPCE ATGTPSPFIT WQKEGINVNT SGRNHAVLPS GGLQISRAVR 4050
EDAGTYMCVA QNPAGTALGK IKLNVQVPPV ISPHLKEYVI AVDKPITLSC 4100
EADGLPPPDI TWHKDGRAIV ESIRQRVLSS GSLQIAFVQP GDAGHYTCMA 4150
ANVAGSSSTS TKLTVHVPPR IRSTEGHYTV NENSQAILPC VADGIPTPAI 4200
NWKKDNVLLA NLLGKYTAEP YGELILENVV LEDSGFYTCV ANNAAGEDTH 4250
TVSLTVHVLP TFTELPGDVS LNKGEQLRLS CKATGIPLPK LTWTFNNNII 4300
PAHFDSVNGH SELVIERVSK EDSGTYVCTA ENSVGFVKAI GFVYVKEPPV 4350
FKGDYPSNWI EPLGGNAILN CEVKGDPTPT IQWNRKGVDI EISHRIRQLG 4400
NGSLAIYGTV NEDAGDYTCV ATNEAGVVER SMSLTLQSPP IITLEPVETV 4450
INAGGKIILN CQATGEPQPT ITWSRQGHSI SWDDRVNVLS NNSLYIADAQ 4500
KEDTSEFECV ARNLMGSVLV RVPVIVQVHG GFSQWSAWRA CSVTCGKGIQ 4550
KRSRLCNQPL PANGGKPCQG SDLEMRNCQN KPCPVDGSWS EWSLWEECTR 4600
SCGRGNQTRT RTCNNPSVQH GGRPCEGNAV EIIMCNIRPC PVHGAWSAWQ 4650
PWGTCSESCG KGTQTRARLC NNPPPAFGGS YCDGAETQMQ VCNERNCPIH 4700
GKWATWASWS ACSVSCGGGA RQRTRGCSDP VPQYGGRKCE GSDVQSDFCN 4750
SDPCPTHGNW SPWSGWGTCS RTCNGGQMRR YRTCDNPPPS NGGRACGGPD 4800
SQIQRCNTDM CPVDGSWGSW HSWSQCSASC GGGEKTRKRL CDHPVPVKGG 4850
RPCPGDTTQV TRCNVQACPG GPQRARGSVI GNINDVEFGI AFLNATITDS 4900
PNSDTRIIRA KITNVPRSLG SAMRKIVSIL NPIYWTTAKE IGEAVNGFTL 4950
TNAVFKRETQ VEFATGEILQ MSHIARGLDS DGSLLLDIVV SGYVLQLQSP 5000
AEVTVKDYTE DYIQTGPGQL YAYSTRLFTI DGISIPYTWN HTVFYDQAQG 5050
RMPFLVETLH ASSVESDYNQ IEETLGFKIH ASISKGDRSN QCPSGFTLDS 5100
VGPFCADEDE CAAGNPCSHS CHNAMGTYYC SCPKGLTIAA DGRTCQDIDE 5150
CALGRHTCHA GQDCDNTIGS YRCVVRCGSG FRRTSDGLSC QDINECQESS 5200
PCHQRCFNAI GSFHCGCEPG YQLKGRKCMD VNECRQNVCR PDQHCKNTRG 5250
GYKCIDLCPN GMTKAENGTC IDIDECKDGT HQCRYNQICE NTRGSYRCVC 5300
PRGYRSQGVG RPCMDINECE QVPKPCAHQC SNTPGSFKCI CPPGQHLLGD 5350
GKSCAGLERL PNYGTQYSSY NLARFSPVRN NYQPQQHYRQ YSHLYSSYSE 5400
YRNSRTSLSR TRRTIRKTCP EGSEASHDTC VDIDECENTD ACQHECKNTF 5450
GSYQCICPPG YQLTHNGKTC QDIDECLEQN VHCGPNRMCF NMRGSYQCID 5500
TPCPPNYQRD PVSGFCLKNC PPNDLECALS PYALEYKLVS LPFGIATNQD 5550
LIRLVAYTQD GVMHPRTTFL MVDEEQTVPF ALRDENLKGV VYTTRPLREA 5600
ETYRMRVRAS SYSANGTIEY QTTFIVYIAV SAYPY 5635
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.

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.
VSP_016871Add
BLAST
Alternative sequencei1169 – 11713VPP → GES in isoform 3.
VSP_016872
Alternative sequencei1172 – 56354464Missing in isoform 3.
VSP_016873Add
BLAST
Alternative sequencei5315 – 5431117Missing in isoform 2.
VSP_016874Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti35 – 351I → F1 Publication
Sequence conflicti483 – 4831N → S1 Publication
Sequence conflicti1042 – 10421G → E1 Publication
Sequence conflicti1078 – 10781Q → L1 Publication
Sequence conflicti1153 – 11531T → I in BAB71216. 1 Publication
Sequence conflicti1319 – 13191D → E1 Publication
Sequence conflicti1368 – 13681T → S1 Publication
Sequence conflicti1414 – 14141K → R in BAB71216. 1 Publication
Sequence conflicti1461 – 14611N → K1 Publication
Sequence conflicti1570 – 15701E → K1 Publication
Sequence conflicti1664 – 16641K → N1 Publication
Sequence conflicti1688 – 16881I → F1 Publication
Sequence conflicti1775 – 17751I → V in BAB71216. 1 Publication
Sequence conflicti1816 – 18161K → E in BAB71216. 1 Publication
Sequence conflicti1959 – 19591R → C1 Publication
Sequence conflicti2073 – 20731A → T1 Publication
Sequence conflicti2184 – 21841E → EK1 Publication
Sequence conflicti2872 – 28721K → E1 Publication
Sequence conflicti3189 – 31891H → Y1 Publication
Sequence conflicti3355 – 33551L → Y1 Publication
Sequence conflicti4136 – 41361A → T1 Publication
Sequence conflicti4340 – 43401I → T1 Publication
Sequence conflicti4358 – 43581N → H1 Publication
Sequence conflicti4699 – 46991I → V1 Publication
Sequence conflicti5294 – 52941G → S1 Publication
Sequence conflicti5317 – 53171N → D1 Publication

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]
ENST00000367492; ENSP00000356462; ENSG00000143341. [Q96RW7-2]
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 427-4868, 4870-5083, 5105-5357, 5419-5531.
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 ]
ENST00000367492 ; ENSP00000356462 ; ENSG00000143341 . [Q96RW7-2 ]
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.
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

ArrayExpressi Q96RW7.
Bgeei Q96RW7.
CleanExi HS_HMCN1.
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: September 3, 2014
This is version 111 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

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