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Q6T4R5 (NHS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 87. Feed History...

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

Names and origin

Protein namesRecommended name:
Nance-Horan syndrome protein
Alternative name(s):
Congenital cataracts and dental anomalies protein
Gene names
Name:NHS
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1651 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.12

Subunit structure

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. Ref.10 Ref.12

Subcellular location

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. Ref.3 Ref.10 Ref.12

Isoform 3: Cytoplasm Ref.3 Ref.10 Ref.12.

Tissue specificity

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. Ref.1 Ref.7

Involvement in disease

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.
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.
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. Ref.11

Sequence similarities

Belongs to the NHS family.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6T4R5-1)

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.
Isoform 2 (identifier: Q6T4R5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     285-305: Missing.
Isoform 3 (identifier: Q6T4R5-3)

Also known as: NHS-1A;

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MPFAKRIVEPQW → MALACCMPKNAA
     13-189: Missing.
Isoform 4 (identifier: Q6T4R5-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16511651Nance-Horan syndrome protein
PRO_0000096810

Regions

Region1 – 262262WAVE homology domain (WHD)
Compositional bias68 – 7710Poly-Pro
Compositional bias112 – 1176Poly-Ala
Compositional bias1475 – 14839Poly-Ser

Amino acid modifications

Modified residue4011Phosphothreonine Ref.9
Modified residue11761Phosphoserine Ref.9
Modified residue12621Phosphothreonine Ref.9
Modified residue13291Phosphoserine Ref.9

Natural variations

Alternative sequence1 – 1212MPFAK…VEPQW → MALACCMPKNAA in isoform 3.
VSP_046537
Alternative sequence1 – 1111MPFAKRIVEPQ → MDNALFLCLAA in isoform 4.
VSP_046538
Alternative sequence121Missing in isoform 4.
VSP_046539
Alternative sequence13 – 189177Missing in isoform 3 and isoform 4.
VSP_046540
Alternative sequence285 – 30521Missing in isoform 2.
VSP_046541
Natural variant8651A → T in a breast cancer sample; somatic mutation. Ref.13
VAR_036225
Natural variant13401F → L.
Corresponds to variant rs3747295 [ dbSNP | Ensembl ].
VAR_021527
Natural variant15311S → T.
Corresponds to variant rs2071848 [ dbSNP | Ensembl ].
VAR_051234
Natural variant15561S → T.
Corresponds to variant rs2071848 [ dbSNP | Ensembl ].
VAR_021528

Experimental info

Sequence conflict3051K → KQ in ADN85614. Ref.1

Sequences

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

Last modified May 29, 2013. Version 2.
Checksum: 9B98C97BA0109F82

FASTA1,651179,135
        10         20         30         40         50         60 
MPFAKRIVEP QWLCRQRRPA PGPAVDASGG SAEPPPPLQP PGRRDLDEVE APGPEEPARA 

        70         80         90        100        110        120 
VPAPSGLPPP PPPLPAPADQ TQPPHGEASV AGEESTAGIP EAAPAAGEAS SAAAAAAVLL 

       130        140        150        160        170        180 
MLDLCAVSNA ALARVLRQLS DVARHACSLF QELESDIQLT HRRVWALQGK LGGVQRVLST 

       190        200        210        220        230        240 
LDPKQEAVPV SNLDIESKLS VYYRAPWHQQ RNIFLPATRP PCVEELHRHA RQSLQALRRE 

       250        260        270        280        290        300 
HRSRSDRREQ RAAAPLSIAA PPLPAYPPAH SQRRREFKDR HFLTFNSTRS PSPTECCHMT 

       310        320        330        340        350        360 
PWSRKSHPPE DEDTDVMLGQ RPKNPIHNIP STLDKQTNWS KALPLPTPEE KMKQDAQVIS 

       370        380        390        400        410        420 
SCIIPINVTG VGFDREASIR CSLVHSQSVL QRRRKLRRRK TISGIPRRVQ QEIDSDESPV 

       430        440        450        460        470        480 
ARERNVIVHT NPDPSNTVNR ISGTRDSECQ TEDILIAAPS RRRIRAQRGQ SIAASLSHSA 

       490        500        510        520        530        540 
GNISALADKG DTMFTPAVSS RTRSRSLPRE GNRGGDAEPK VGAKPSAYEE GESFVGDHER 

       550        560        570        580        590        600 
TPNDFSEAPS SPSAQDHQPT LGLACSQHLH SPQHKLSERG RSRLSRMAAD SGSCDISSNS 

       610        620        630        640        650        660 
DTFGSPIHCI STAGVLLSSH MDQKDDHQSS SGNWSGSSST CPSQTSETIP PAASPPLTGS 

       670        680        690        700        710        720 
SHCDSELSLN TAPHANEDAS VFVTEQYNDH LDKVRGHRAN SFTSTVADLL DDPNNSNTSD 

       730        740        750        760        770        780 
SEWNYLHHHH DASCRQDFSP ERPKADSLGC PSFTSMATYD SFLEKSPSDK ADTSSHFSVD 

       790        800        810        820        830        840 
TEGYYTSMHF DCGLKGNKSY VCHYAALGPE NGQGVGASPG LPDCAWQDYL DHKRQGRPSI 

       850        860        870        880        890        900 
SFRKPKAKPT PPKRSSSLRK SDGNADISEK KEPKISSGQH LPHSSREMKL PLDFANTPSR 

       910        920        930        940        950        960 
MENANLPTKQ EPSWINQSEQ GIKEPQLDAS DIPPFKDEVA ESTHYADLWL LNDLKTNDPY 

       970        980        990       1000       1010       1020 
RSLSNSSTAT GTTVIECIKS PESSESQTSQ SESRATTPSL PSVDNEFKLA SPEKLAGLAS 

      1030       1040       1050       1060       1070       1080 
PSSGYSSQSE TPTSSFPTAF FSGPLSPGGS KRKPKVPERK SSLQQPSLKD GTISLSKDLE 

      1090       1100       1110       1120       1130       1140 
LPIIPPTHLD LSALHNVLNK PFHHRHPLHV FTHNKQNTVG ETLRSNPPPS LAITPTILKS 

      1150       1160       1170       1180       1190       1200 
VNLRSINKSE EVKQKEENNT DLPYLEESTL TTAALSPSKI RPHTANKSVS RQYSTEDTIL 

      1210       1220       1230       1240       1250       1260 
SFLDSSAVEM GPDKLHLEKN STFDVKNRCD PETITSAGSS LLDSNVTKDQ VRTETEPIPE 

      1270       1280       1290       1300       1310       1320 
NTPTKNCAFP TEGFQRVSAA RPNDLDGKII QYGPGPDETL EQVQKAPSAG LEEVAQPESV 

      1330       1340       1350       1360       1370       1380 
DVITSQSDSP TRATDVSNQF KHQFVMSRHH DKVPGTISYE SEITSVNSFP EKCSKQENIA 

      1390       1400       1410       1420       1430       1440 
SGISAKSASD NSKAEETQGN VDEASLKESS PSDDSIISPL SEDSQAEAEG VFVSPNKPRT 

      1450       1460       1470       1480       1490       1500 
TEDLFAVIHR SKRKVLGRKD SGDMSVRSKS RAPLSSSSSS ASSITSPSSN VTTPNSQRSP 

      1510       1520       1530       1540       1550       1560 
GLIYRNAKKS NTSNEEFKLL LLKKGSRSDS SYRMSATEIL KSPILPKPPG ELTAESPQST 

      1570       1580       1590       1600       1610       1620 
DDAHQGSQGA EALSPLSPCS PRVNAEGFSS KSFATSASAR VGRSRAPPAA SSSRYSVRCR 

      1630       1640       1650 
LYNTPMQAIS EGETENSDGS PHDDRSSQSS T 

« Hide

Isoform 2 [UniParc].

Checksum: 2CBBEDC0E2AD01CE
Show »

FASTA1,630176,700
Isoform 3 (NHS-1A) [UniParc].

Checksum: 17BB8D1C6AE579AF
Show »

FASTA1,474160,795
Isoform 4 [UniParc].

Checksum: F4A3393403EC8A47
Show »

FASTA1,473160,753

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 964-1651.
Tissue: Fetal kidney.
[7]"Identification of the gene for Nance-Horan syndrome (NHS)."
Brooks S.P., Ebenezer N.D., Poopalasundaram S., Lehmann O.J., Moore A.T., Hardcastle A.J.
J. Med. Genet. 41:768-771(2004) [PubMed] [Europe PMC] [Abstract]
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"NHS-A isoform of the NHS gene is a novel interactor of ZO-1."
Sharma S., Koh K.S., Collin C., Dave A., McMellon A., Sugiyama Y., McAvoy J.W., Voss A.K., Gecz J., Craig J.E.
Exp. Cell Res. 315:2358-2372(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH TJP1/ZO-1.
[11]"X-linked cataract and Nance-Horan syndrome are allelic disorders."
Coccia M., Brooks S.P., Webb T.R., Christodoulou K., Wozniak I.O., Murday V., Balicki M., Yee H.A., Wangensteen T., Riise R., Saggar A.K., Park S.M., Kanuga N., Francis P.J., Maher E.R., Moore A.T., Russell-Eggitt I.M., Hardcastle A.J.
Hum. Mol. Genet. 18:2643-2655(2009) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-865.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001129496.1. NM_001136024.3.
NP_938011.1. NM_198270.3.
XP_005274596.1. XM_005274539.2.
UniGeneHs.201623.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110875. 2 interactions.
IntActQ6T4R5. 2 interactions.
STRING9606.ENSP00000369400.

PTM databases

PhosphoSiteQ6T4R5.

Polymorphism databases

DMDM510120778.

Proteomic databases

PaxDbQ6T4R5.
PRIDEQ6T4R5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000380060; ENSP00000369400; ENSG00000188158. [Q6T4R5-2]
ENST00000398097; ENSP00000381170; ENSG00000188158. [Q6T4R5-3]
GeneID4810.
KEGGhsa:4810.
UCSCuc004cxx.3. human. [Q6T4R5-1]
uc004cxy.3. human. [Q6T4R5-2]
uc004cya.3. human. [Q6T4R5-3]
uc011mix.2. human.

Organism-specific databases

CTD4810.
GeneCardsGC0XP017393.
HGNCHGNC:7820. NHS.
HPAHPA031497.
MIM300457. gene.
302200. phenotype.
302350. phenotype.
neXtProtNX_Q6T4R5.
Orphanet627. Nance-Horan syndrome.
98991. Nuclear cataract.
98994. Total congenital cataract.
PharmGKBPA31622.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43400.
HOVERGENHBG052618.
InParanoidQ6T4R5.
OMANSFPEKC.
OrthoDBEOG7Q2N4H.
TreeFamTF333323.

Gene expression databases

ArrayExpressQ6T4R5.
BgeeQ6T4R5.
CleanExHS_NHS.
GenevestigatorQ6T4R5.

Family and domain databases

InterProIPR024845. NHS_fam.
[Graphical view]
PANTHERPTHR23039. PTHR23039. 1 hit.
PfamPF15273. NHS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNHS. human.
GeneWikiNHS_(gene).
GenomeRNAi4810.
NextBio18538.
PROQ6T4R5.
SOURCESearch...

Entry information

Entry nameNHS_HUMAN
AccessionPrimary (citable) accession number: Q6T4R5
Secondary accession number(s): B7ZVX8 expand/collapse secondary AC list , E2DH69, Q5J7Q0, Q5J7Q1, Q68DR5
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: May 29, 2013
Last modified: April 16, 2014
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

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