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Q96RW7

- HMCN1_HUMAN

UniProt

Q96RW7 - HMCN1_HUMAN

Protein

Hemicentin-1

Gene

HMCN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 2 (10 Jan 2006)
      Previous versions | rss
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    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

    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

    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

    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.
    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.
    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.

    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 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 ]
    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

    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 1, 2014
    This is version 112 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