Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q6T4R5

- NHS_HUMAN

UniProt

Q6T4R5 - NHS_HUMAN

Protein

Nance-Horan syndrome protein

Gene

NHS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 2 (29 May 2013)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development.1 Publication

    GO - Biological processi

    1. cell differentiation Source: Ensembl
    2. lens development in camera-type eye Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nance-Horan syndrome protein
    Alternative name(s):
    Congenital cataracts and dental anomalies protein
    Gene namesi
    Name:NHS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:7820. NHS.

    Subcellular locationi

    Isoform 1 : Apical cell membrane; Peripheral membrane protein. Cell projectionlamellipodium. Cell junctiontight junction. Cell junctionfocal adhesion
    Note: Colocalizes with the tight junction protein TJP1 in epithelial cells. Localizes to the leading edge of lamellipodia in motile cells.

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB-SubCell
    2. cytoplasm Source: UniProtKB-SubCell
    3. focal adhesion Source: UniProtKB-SubCell
    4. lamellipodium Source: UniProtKB-SubCell
    5. tight junction Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cell projection, Cytoplasm, Membrane, Tight junction

    Pathology & Biotechi

    Involvement in diseasei

    Nance-Horan syndrome (NHS) [MIM:302350]: Rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Cataract 40 (CTRCT40) [MIM:302200]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. Caused by copy number variations predicted to result in altered transcriptional regulation of the NHS gene: a 0.8 Mb segmental duplication-triplication encompassing the NHS, SCML1 and RAI2 genes, and an 4.8 kb intragenic deletion in NHS intron 1.

    Keywords - Diseasei

    Cataract

    Organism-specific databases

    MIMi302200. phenotype.
    302350. phenotype.
    Orphaneti627. Nance-Horan syndrome.
    98991. Nuclear cataract.
    98994. Total congenital cataract.
    PharmGKBiPA31622.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 16511651Nance-Horan syndrome proteinPRO_0000096810Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei401 – 4011Phosphothreonine1 Publication
    Modified residuei1176 – 11761Phosphoserine1 Publication
    Modified residuei1262 – 12621Phosphothreonine1 Publication
    Modified residuei1329 – 13291Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ6T4R5.
    PaxDbiQ6T4R5.
    PRIDEiQ6T4R5.

    PTM databases

    PhosphoSiteiQ6T4R5.

    Expressioni

    Tissue specificityi

    Detected at low levels in all tissues analyzed. Detected in fetal and adult brain, lens, retina, retinal pigment epithelium, placenta, lymphocytes and fibroblasts. Levels in retinal pigment epithelium, placenta, lymphocytes, and fibroblasts are very low. Expressed also in kidney, lung and thymus.2 Publications

    Gene expression databases

    ArrayExpressiQ6T4R5.
    BgeeiQ6T4R5.
    CleanExiHS_NHS.
    GenevestigatoriQ6T4R5.

    Organism-specific databases

    HPAiHPA031497.

    Interactioni

    Subunit structurei

    Interacts with the tight junction protein TJP1/ZO-1. Associates with actin-rich structures. Interacts with BRK1 and with all three members of the WAVE protein family, WASF1, WASF2 and WASF3.2 Publications

    Protein-protein interaction databases

    BioGridi110875. 2 interactions.
    IntActiQ6T4R5. 2 interactions.
    STRINGi9606.ENSP00000369400.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 262262WAVE homology domain (WHD)Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi68 – 7710Poly-Pro
    Compositional biasi112 – 1176Poly-Ala
    Compositional biasi1475 – 14839Poly-Ser

    Sequence similaritiesi

    Belongs to the NHS family.Curated

    Phylogenomic databases

    eggNOGiNOG43400.
    HOVERGENiHBG052618.
    InParanoidiQ6T4R5.
    OMAiNSFPEKC.
    OrthoDBiEOG7Q2N4H.
    TreeFamiTF333323.

    Family and domain databases

    InterProiIPR024845. NHS_fam.
    [Graphical view]
    PfamiPF15273. NHS. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6T4R5-1) [UniParc]FASTAAdd to Basket

    Also known as: NHS-A

    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.

    « Hide

    MPFAKRIVEP QWLCRQRRPA PGPAVDASGG SAEPPPPLQP PGRRDLDEVE     50
    APGPEEPARA VPAPSGLPPP PPPLPAPADQ TQPPHGEASV AGEESTAGIP 100
    EAAPAAGEAS SAAAAAAVLL MLDLCAVSNA ALARVLRQLS DVARHACSLF 150
    QELESDIQLT HRRVWALQGK LGGVQRVLST LDPKQEAVPV SNLDIESKLS 200
    VYYRAPWHQQ RNIFLPATRP PCVEELHRHA RQSLQALRRE HRSRSDRREQ 250
    RAAAPLSIAA PPLPAYPPAH SQRRREFKDR HFLTFNSTRS PSPTECCHMT 300
    PWSRKSHPPE DEDTDVMLGQ RPKNPIHNIP STLDKQTNWS KALPLPTPEE 350
    KMKQDAQVIS SCIIPINVTG VGFDREASIR CSLVHSQSVL QRRRKLRRRK 400
    TISGIPRRVQ QEIDSDESPV ARERNVIVHT NPDPSNTVNR ISGTRDSECQ 450
    TEDILIAAPS RRRIRAQRGQ SIAASLSHSA GNISALADKG DTMFTPAVSS 500
    RTRSRSLPRE GNRGGDAEPK VGAKPSAYEE GESFVGDHER TPNDFSEAPS 550
    SPSAQDHQPT LGLACSQHLH SPQHKLSERG RSRLSRMAAD SGSCDISSNS 600
    DTFGSPIHCI STAGVLLSSH MDQKDDHQSS SGNWSGSSST CPSQTSETIP 650
    PAASPPLTGS SHCDSELSLN TAPHANEDAS VFVTEQYNDH LDKVRGHRAN 700
    SFTSTVADLL DDPNNSNTSD SEWNYLHHHH DASCRQDFSP ERPKADSLGC 750
    PSFTSMATYD SFLEKSPSDK ADTSSHFSVD TEGYYTSMHF DCGLKGNKSY 800
    VCHYAALGPE NGQGVGASPG LPDCAWQDYL DHKRQGRPSI SFRKPKAKPT 850
    PPKRSSSLRK SDGNADISEK KEPKISSGQH LPHSSREMKL PLDFANTPSR 900
    MENANLPTKQ EPSWINQSEQ GIKEPQLDAS DIPPFKDEVA ESTHYADLWL 950
    LNDLKTNDPY RSLSNSSTAT GTTVIECIKS PESSESQTSQ SESRATTPSL 1000
    PSVDNEFKLA SPEKLAGLAS PSSGYSSQSE TPTSSFPTAF FSGPLSPGGS 1050
    KRKPKVPERK SSLQQPSLKD GTISLSKDLE LPIIPPTHLD LSALHNVLNK 1100
    PFHHRHPLHV FTHNKQNTVG ETLRSNPPPS LAITPTILKS VNLRSINKSE 1150
    EVKQKEENNT DLPYLEESTL TTAALSPSKI RPHTANKSVS RQYSTEDTIL 1200
    SFLDSSAVEM GPDKLHLEKN STFDVKNRCD PETITSAGSS LLDSNVTKDQ 1250
    VRTETEPIPE NTPTKNCAFP TEGFQRVSAA RPNDLDGKII QYGPGPDETL 1300
    EQVQKAPSAG LEEVAQPESV DVITSQSDSP TRATDVSNQF KHQFVMSRHH 1350
    DKVPGTISYE SEITSVNSFP EKCSKQENIA SGISAKSASD NSKAEETQGN 1400
    VDEASLKESS PSDDSIISPL SEDSQAEAEG VFVSPNKPRT TEDLFAVIHR 1450
    SKRKVLGRKD SGDMSVRSKS RAPLSSSSSS ASSITSPSSN VTTPNSQRSP 1500
    GLIYRNAKKS NTSNEEFKLL LLKKGSRSDS SYRMSATEIL KSPILPKPPG 1550
    ELTAESPQST DDAHQGSQGA EALSPLSPCS PRVNAEGFSS KSFATSASAR 1600
    VGRSRAPPAA SSSRYSVRCR LYNTPMQAIS EGETENSDGS PHDDRSSQSS 1650
    T 1651
    Length:1,651
    Mass (Da):179,135
    Last modified:May 29, 2013 - v2
    Checksum:i9B98C97BA0109F82
    GO
    Isoform 2 (identifier: Q6T4R5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         285-305: Missing.

    Show »
    Length:1,630
    Mass (Da):176,700
    Checksum:i2CBBEDC0E2AD01CE
    GO
    Isoform 3 (identifier: Q6T4R5-3) [UniParc]FASTAAdd to Basket

    Also known as: NHS-1A

    The sequence of this isoform differs from the canonical sequence as follows:
         1-12: MPFAKRIVEPQW → MALACCMPKNAA
         13-189: Missing.

    Show »
    Length:1,474
    Mass (Da):160,795
    Checksum:i17BB8D1C6AE579AF
    GO
    Isoform 4 (identifier: Q6T4R5-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-11: MPFAKRIVEPQ → MDNALFLCLAA
         12-12: Missing.
         13-189: Missing.

    Show »
    Length:1,473
    Mass (Da):160,753
    Checksum:iF4A3393403EC8A47
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti305 – 3051K → KQ in ADN85614. (PubMed:14564667)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti865 – 8651A → T in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036225
    Natural varianti1340 – 13401F → L.
    Corresponds to variant rs3747295 [ dbSNP | Ensembl ].
    VAR_021527
    Natural varianti1531 – 15311S → T.
    Corresponds to variant rs2071848 [ dbSNP | Ensembl ].
    VAR_051234
    Natural varianti1556 – 15561S → T.
    Corresponds to variant rs2071848 [ dbSNP | Ensembl ].
    VAR_021528

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1212MPFAK…VEPQW → MALACCMPKNAA in isoform 3. 1 PublicationVSP_046537Add
    BLAST
    Alternative sequencei1 – 1111MPFAKRIVEPQ → MDNALFLCLAA in isoform 4. 1 PublicationVSP_046538Add
    BLAST
    Alternative sequencei12 – 121Missing in isoform 4. 1 PublicationVSP_046539
    Alternative sequencei13 – 189177Missing in isoform 3 and isoform 4. 1 PublicationVSP_046540Add
    BLAST
    Alternative sequencei285 – 30521Missing in isoform 2. 1 PublicationVSP_046541Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY436752 mRNA. Translation: AAR03104.1.
    AY456993 mRNA. Translation: AAS13456.1.
    AY456992 mRNA. Translation: AAS13455.1.
    GQ988776 mRNA. Translation: ADN85614.1.
    AL845433, Z93242 Genomic DNA. Translation: CAI41241.1.
    Z93242, AL845433 Genomic DNA. Translation: CAI42724.1.
    BC136415 mRNA. Translation: AAI36416.1.
    BC171763 mRNA. Translation: AAI71763.1.
    CR749300 mRNA. Translation: CAH18155.1.
    CCDSiCCDS14181.1. [Q6T4R5-2]
    CCDS48087.1. [Q6T4R5-3]
    RefSeqiNP_001129496.1. NM_001136024.3. [Q6T4R5-3]
    NP_001278796.1. NM_001291867.1. [Q6T4R5-1]
    NP_001278797.1. NM_001291868.1.
    NP_938011.1. NM_198270.3. [Q6T4R5-2]
    UniGeneiHs.201623.

    Genome annotation databases

    EnsembliENST00000380060; ENSP00000369400; ENSG00000188158. [Q6T4R5-2]
    ENST00000398097; ENSP00000381170; ENSG00000188158. [Q6T4R5-3]
    GeneIDi4810.
    KEGGihsa:4810.
    UCSCiuc004cxx.3. human. [Q6T4R5-1]
    uc004cxy.3. human. [Q6T4R5-2]
    uc004cya.3. human. [Q6T4R5-3]
    uc011mix.2. human.

    Polymorphism databases

    DMDMi510120778.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY436752 mRNA. Translation: AAR03104.1 .
    AY456993 mRNA. Translation: AAS13456.1 .
    AY456992 mRNA. Translation: AAS13455.1 .
    GQ988776 mRNA. Translation: ADN85614.1 .
    AL845433 , Z93242 Genomic DNA. Translation: CAI41241.1 .
    Z93242 , AL845433 Genomic DNA. Translation: CAI42724.1 .
    BC136415 mRNA. Translation: AAI36416.1 .
    BC171763 mRNA. Translation: AAI71763.1 .
    CR749300 mRNA. Translation: CAH18155.1 .
    CCDSi CCDS14181.1. [Q6T4R5-2 ]
    CCDS48087.1. [Q6T4R5-3 ]
    RefSeqi NP_001129496.1. NM_001136024.3. [Q6T4R5-3 ]
    NP_001278796.1. NM_001291867.1. [Q6T4R5-1 ]
    NP_001278797.1. NM_001291868.1.
    NP_938011.1. NM_198270.3. [Q6T4R5-2 ]
    UniGenei Hs.201623.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110875. 2 interactions.
    IntActi Q6T4R5. 2 interactions.
    STRINGi 9606.ENSP00000369400.

    PTM databases

    PhosphoSitei Q6T4R5.

    Polymorphism databases

    DMDMi 510120778.

    Proteomic databases

    MaxQBi Q6T4R5.
    PaxDbi Q6T4R5.
    PRIDEi Q6T4R5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000380060 ; ENSP00000369400 ; ENSG00000188158 . [Q6T4R5-2 ]
    ENST00000398097 ; ENSP00000381170 ; ENSG00000188158 . [Q6T4R5-3 ]
    GeneIDi 4810.
    KEGGi hsa:4810.
    UCSCi uc004cxx.3. human. [Q6T4R5-1 ]
    uc004cxy.3. human. [Q6T4R5-2 ]
    uc004cya.3. human. [Q6T4R5-3 ]
    uc011mix.2. human.

    Organism-specific databases

    CTDi 4810.
    GeneCardsi GC0XP017393.
    HGNCi HGNC:7820. NHS.
    HPAi HPA031497.
    MIMi 300457. gene.
    302200. phenotype.
    302350. phenotype.
    neXtProti NX_Q6T4R5.
    Orphaneti 627. Nance-Horan syndrome.
    98991. Nuclear cataract.
    98994. Total congenital cataract.
    PharmGKBi PA31622.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG43400.
    HOVERGENi HBG052618.
    InParanoidi Q6T4R5.
    OMAi NSFPEKC.
    OrthoDBi EOG7Q2N4H.
    TreeFami TF333323.

    Miscellaneous databases

    ChiTaRSi NHS. human.
    GeneWikii NHS_(gene).
    GenomeRNAii 4810.
    NextBioi 18538.
    PROi Q6T4R5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6T4R5.
    Bgeei Q6T4R5.
    CleanExi HS_NHS.
    Genevestigatori Q6T4R5.

    Family and domain databases

    InterProi IPR024845. NHS_fam.
    [Graphical view ]
    Pfami PF15273. NHS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation."
      Burdon K.P., McKay J.D., Sale M.M., Russell-Eggit I.M., Mackey D.A., Wirth M.G., Elder J.E., Nicoll A., Clark M.P., FitzGerald L.M., Stankovich J.M., Shaw M.A., Sharma S., Gajovic S., Gruss P., Ross S., Thomas P., Voss A.K.
      , Thomas T., Gecz J., Craig J.E.
      Am. J. Hum. Genet. 73:1120-1130(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, INVOLVEMENT IN NANCE-HORAN SYNDROME.
    2. "Identification of the gene involved in Nance-Horan syndrome."
      Dessay B., Ronce N., Kaplan J., Hartsfield J.K., Wallgren-Pettersson C., Walpole I., Russo S., Chelly J., Moraine C., Toutain A.
      Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
    3. "Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions."
      Sharma S., Ang S.L., Shaw M., Mackey D.A., Gecz J., McAvoy J.W., Craig J.E.
      Hum. Mol. Genet. 15:1972-1983(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, ALTERNATIVE SPLICING.
    4. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 964-1651.
      Tissue: Fetal kidney.
    7. Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN NANCE-HORAN SYNDROME.
    8. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
      Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-401; SER-1176; THR-1262 AND SER-1329, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH TJP1/ZO-1.
    11. Cited for: INVOLVEMENT IN CTRCT40.
    12. "The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology."
      Brooks S.P., Coccia M., Tang H.R., Kanuga N., Machesky L.M., Bailly M., Cheetham M.E., Hardcastle A.J.
      Hum. Mol. Genet. 19:2421-2432(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION.
    13. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-865.

    Entry informationi

    Entry nameiNHS_HUMAN
    AccessioniPrimary (citable) accession number: Q6T4R5
    Secondary accession number(s): B7ZVX8
    , E2DH69, Q5J7Q0, Q5J7Q1, Q68DR5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2005
    Last sequence update: May 29, 2013
    Last modified: October 1, 2014
    This is version 92 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 X
      Human chromosome X: 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