Q6T4R5 (NHS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nance-Horan syndrome protein

Alternative name(s):
Congenital cataracts and dental anomalies protein

Gene names

Name:

NHS

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1630 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Unknown. May have a key functions in the regulation of eye, tooth, brain and craniofacial development.
Subcellular location	Nucleus Potential.
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.5
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, congenital, X-linked (CXN) [MIM:302200]: A X-linked form of cataract, manifesting as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. 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.8
Sequence similarities	Belongs to the NHS family.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cataract
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: Compara lens development in camera-type eye Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6T4R5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q6T4R5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-177: Missing.
     178-189: LSTLDPKQEAVP → MALACCMPKNAA
     284-284: T → TFNSTRSPSPTECCHMTPWSRK

Isoform 3 (identifier: Q6T4R5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-178: Missing.
     179-189: STLDPKQEAVP → MDNALFLCLAA
     284-284: T → TFNSTRSPSPTECCHMTPWSRK

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1630	1630	Nance-Horan syndrome protein		PRO_0000096810
Regions
	Motif	371 – 379	9	Nuclear localization signal Potential
	Compositional bias	68 – 77	10	Poly-Pro
	Compositional bias	112 – 117	6	Poly-Ala
	Compositional bias	1454 – 1462	9	Poly-Ser
Amino acid modifications
	Modified residue	380	1	Phosphothreonine Ref.7
	Modified residue	1155	1	Phosphoserine Ref.7
	Modified residue	1241	1	Phosphothreonine Ref.7
	Modified residue	1308	1	Phosphoserine Ref.7
	Modified residue	1478	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	1 – 178	178	Missing in isoform 3.		VSP_013212
	Alternative sequence	1 – 177	177	Missing in isoform 2.		VSP_013210
	Alternative sequence	178 – 189	12	LSTLD…QEAVP → MALACCMPKNAA in isoform 2.		VSP_013211
	Alternative sequence	179 – 189	11	STLDPKQEAVP → MDNALFLCLAA in isoform 3.		VSP_013213
	Alternative sequence	284	1	T → TFNSTRSPSPTECCHMTPWS RK in isoform 2 and isoform 3.		VSP_013214
	Natural variant	844	1	A → T in a breast cancer sample; somatic mutation. Ref.9		VAR_036225
	Natural variant	1319	1	F → L. Corresponds to variant rs3747295 [ dbSNP | Ensembl ].		VAR_021527
	Natural variant	1510	1	S → T. Corresponds to variant rs2071848 [ dbSNP | Ensembl ].		VAR_051234
	Natural variant	1535	1	S → T. Corresponds to variant rs2071848 [ dbSNP | Ensembl ].		VAR_021528

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 2CBBEDC0E2AD01CE	FASTA	1,630	176,700
	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 HFLTSHPPED EDTDVMLGQR 310 320 330 340 350 360 PKNPIHNIPS TLDKQTNWSK ALPLPTPEEK MKQDAQVISS CIIPINVTGV GFDREASIRC 370 380 390 400 410 420 SLVHSQSVLQ RRRKLRRRKT ISGIPRRVQQ EIDSDESPVA RERNVIVHTN PDPSNTVNRI 430 440 450 460 470 480 SGTRDSECQT EDILIAAPSR RRIRAQRGQS IAASLSHSAG NISALADKGD TMFTPAVSSR 490 500 510 520 530 540 TRSRSLPREG NRGGDAEPKV GAKPSAYEEG ESFVGDHERT PNDFSEAPSS PSAQDHQPTL 550 560 570 580 590 600 GLACSQHLHS PQHKLSERGR SRLSRMAADS GSCDISSNSD TFGSPIHCIS TAGVLLSSHM 610 620 630 640 650 660 DQKDDHQSSS GNWSGSSSTC PSQTSETIPP AASPPLTGSS HCDSELSLNT APHANEDASV 670 680 690 700 710 720 FVTEQYNDHL DKVRGHRANS FTSTVADLLD DPNNSNTSDS EWNYLHHHHD ASCRQDFSPE 730 740 750 760 770 780 RPKADSLGCP SFTSMATYDS FLEKSPSDKA DTSSHFSVDT EGYYTSMHFD CGLKGNKSYV 790 800 810 820 830 840 CHYAALGPEN GQGVGASPGL PDCAWQDYLD HKRQGRPSIS FRKPKAKPTP PKRSSSLRKS 850 860 870 880 890 900 DGNADISEKK EPKISSGQHL PHSSREMKLP LDFANTPSRM ENANLPTKQE PSWINQSEQG 910 920 930 940 950 960 IKEPQLDASD IPPFKDEVAE STHYADLWLL NDLKTNDPYR SLSNSSTATG TTVIECIKSP 970 980 990 1000 1010 1020 ESSESQTSQS ESRATTPSLP SVDNEFKLAS PEKLAGLASP SSGYSSQSET PTSSFPTAFF 1030 1040 1050 1060 1070 1080 SGPLSPGGSK RKPKVPERKS SLQQPSLKDG TISLSKDLEL PIIPPTHLDL SALHNVLNKP 1090 1100 1110 1120 1130 1140 FHHRHPLHVF THNKQNTVGE TLRSNPPPSL AITPTILKSV NLRSINKSEE VKQKEENNTD 1150 1160 1170 1180 1190 1200 LPYLEESTLT TAALSPSKIR PHTANKSVSR QYSTEDTILS FLDSSAVEMG PDKLHLEKNS 1210 1220 1230 1240 1250 1260 TFDVKNRCDP ETITSAGSSL LDSNVTKDQV RTETEPIPEN TPTKNCAFPT EGFQRVSAAR 1270 1280 1290 1300 1310 1320 PNDLDGKIIQ YGPGPDETLE QVQKAPSAGL EEVAQPESVD VITSQSDSPT RATDVSNQFK 1330 1340 1350 1360 1370 1380 HQFVMSRHHD KVPGTISYES EITSVNSFPE KCSKQENIAS GISAKSASDN SKAEETQGNV 1390 1400 1410 1420 1430 1440 DEASLKESSP SDDSIISPLS EDSQAEAEGV FVSPNKPRTT EDLFAVIHRS KRKVLGRKDS 1450 1460 1470 1480 1490 1500 GDMSVRSKSR APLSSSSSSA SSITSPSSNV TTPNSQRSPG LIYRNAKKSN TSNEEFKLLL 1510 1520 1530 1540 1550 1560 LKKGSRSDSS YRMSATEILK SPILPKPPGE LTAESPQSTD DAHQGSQGAE ALSPLSPCSP 1570 1580 1590 1600 1610 1620 RVNAEGFSSK SFATSASARV GRSRAPPAAS SSRYSVRCRL YNTPMQAISE GETENSDGSP 1630 HDDRSSQSST
	Isoform 2 [UniParc]. Checksum: 17BB8D1C6AE579AF	FASTA	1,474	160,795
	10 20 30 40 50 60 MALACCMPKN AAVSNLDIES KLSVYYRAPW HQQRNIFLPA TRPPCVEELH RHARQSLQAL 70 80 90 100 110 120 RREHRSRSDR REQRAAAPLS IAAPPLPAYP PAHSQRRREF KDRHFLTFNS TRSPSPTECC 130 140 150 160 170 180 HMTPWSRKSH PPEDEDTDVM LGQRPKNPIH NIPSTLDKQT NWSKALPLPT PEEKMKQDAQ 190 200 210 220 230 240 VISSCIIPIN VTGVGFDREA SIRCSLVHSQ SVLQRRRKLR RRKTISGIPR RVQQEIDSDE 250 260 270 280 290 300 SPVARERNVI VHTNPDPSNT VNRISGTRDS ECQTEDILIA APSRRRIRAQ RGQSIAASLS 310 320 330 340 350 360 HSAGNISALA DKGDTMFTPA VSSRTRSRSL PREGNRGGDA EPKVGAKPSA YEEGESFVGD 370 380 390 400 410 420 HERTPNDFSE APSSPSAQDH QPTLGLACSQ HLHSPQHKLS ERGRSRLSRM AADSGSCDIS 430 440 450 460 470 480 SNSDTFGSPI HCISTAGVLL SSHMDQKDDH QSSSGNWSGS SSTCPSQTSE TIPPAASPPL 490 500 510 520 530 540 TGSSHCDSEL SLNTAPHANE DASVFVTEQY NDHLDKVRGH RANSFTSTVA DLLDDPNNSN 550 560 570 580 590 600 TSDSEWNYLH HHHDASCRQD FSPERPKADS LGCPSFTSMA TYDSFLEKSP SDKADTSSHF 610 620 630 640 650 660 SVDTEGYYTS MHFDCGLKGN KSYVCHYAAL GPENGQGVGA SPGLPDCAWQ DYLDHKRQGR 670 680 690 700 710 720 PSISFRKPKA KPTPPKRSSS LRKSDGNADI SEKKEPKISS GQHLPHSSRE MKLPLDFANT 730 740 750 760 770 780 PSRMENANLP TKQEPSWINQ SEQGIKEPQL DASDIPPFKD EVAESTHYAD LWLLNDLKTN 790 800 810 820 830 840 DPYRSLSNSS TATGTTVIEC IKSPESSESQ TSQSESRATT PSLPSVDNEF KLASPEKLAG 850 860 870 880 890 900 LASPSSGYSS QSETPTSSFP TAFFSGPLSP GGSKRKPKVP ERKSSLQQPS LKDGTISLSK 910 920 930 940 950 960 DLELPIIPPT HLDLSALHNV LNKPFHHRHP LHVFTHNKQN TVGETLRSNP PPSLAITPTI 970 980 990 1000 1010 1020 LKSVNLRSIN KSEEVKQKEE NNTDLPYLEE STLTTAALSP SKIRPHTANK SVSRQYSTED 1030 1040 1050 1060 1070 1080 TILSFLDSSA VEMGPDKLHL EKNSTFDVKN RCDPETITSA GSSLLDSNVT KDQVRTETEP 1090 1100 1110 1120 1130 1140 IPENTPTKNC AFPTEGFQRV SAARPNDLDG KIIQYGPGPD ETLEQVQKAP SAGLEEVAQP 1150 1160 1170 1180 1190 1200 ESVDVITSQS DSPTRATDVS NQFKHQFVMS RHHDKVPGTI SYESEITSVN SFPEKCSKQE 1210 1220 1230 1240 1250 1260 NIASGISAKS ASDNSKAEET QGNVDEASLK ESSPSDDSII SPLSEDSQAE AEGVFVSPNK 1270 1280 1290 1300 1310 1320 PRTTEDLFAV IHRSKRKVLG RKDSGDMSVR SKSRAPLSSS SSSASSITSP SSNVTTPNSQ 1330 1340 1350 1360 1370 1380 RSPGLIYRNA KKSNTSNEEF KLLLLKKGSR SDSSYRMSAT EILKSPILPK PPGELTAESP 1390 1400 1410 1420 1430 1440 QSTDDAHQGS QGAEALSPLS PCSPRVNAEG FSSKSFATSA SARVGRSRAP PAASSSRYSV 1450 1460 1470 RCRLYNTPMQ AISEGETENS DGSPHDDRSS QSST
	Isoform 3 [UniParc]. Checksum: F4A3393403EC8A47	FASTA	1,473	160,753
	10 20 30 40 50 60 MDNALFLCLA AVSNLDIESK LSVYYRAPWH QQRNIFLPAT RPPCVEELHR HARQSLQALR 70 80 90 100 110 120 REHRSRSDRR EQRAAAPLSI AAPPLPAYPP AHSQRRREFK DRHFLTFNST RSPSPTECCH 130 140 150 160 170 180 MTPWSRKSHP PEDEDTDVML GQRPKNPIHN IPSTLDKQTN WSKALPLPTP EEKMKQDAQV 190 200 210 220 230 240 ISSCIIPINV TGVGFDREAS IRCSLVHSQS VLQRRRKLRR RKTISGIPRR VQQEIDSDES 250 260 270 280 290 300 PVARERNVIV HTNPDPSNTV NRISGTRDSE CQTEDILIAA PSRRRIRAQR GQSIAASLSH 310 320 330 340 350 360 SAGNISALAD KGDTMFTPAV SSRTRSRSLP REGNRGGDAE PKVGAKPSAY EEGESFVGDH 370 380 390 400 410 420 ERTPNDFSEA PSSPSAQDHQ PTLGLACSQH LHSPQHKLSE RGRSRLSRMA ADSGSCDISS 430 440 450 460 470 480 NSDTFGSPIH CISTAGVLLS SHMDQKDDHQ SSSGNWSGSS STCPSQTSET IPPAASPPLT 490 500 510 520 530 540 GSSHCDSELS LNTAPHANED ASVFVTEQYN DHLDKVRGHR ANSFTSTVAD LLDDPNNSNT 550 560 570 580 590 600 SDSEWNYLHH HHDASCRQDF SPERPKADSL GCPSFTSMAT YDSFLEKSPS DKADTSSHFS 610 620 630 640 650 660 VDTEGYYTSM HFDCGLKGNK SYVCHYAALG PENGQGVGAS PGLPDCAWQD YLDHKRQGRP 670 680 690 700 710 720 SISFRKPKAK PTPPKRSSSL RKSDGNADIS EKKEPKISSG QHLPHSSREM KLPLDFANTP 730 740 750 760 770 780 SRMENANLPT KQEPSWINQS EQGIKEPQLD ASDIPPFKDE VAESTHYADL WLLNDLKTND 790 800 810 820 830 840 PYRSLSNSST ATGTTVIECI KSPESSESQT SQSESRATTP SLPSVDNEFK LASPEKLAGL 850 860 870 880 890 900 ASPSSGYSSQ SETPTSSFPT AFFSGPLSPG GSKRKPKVPE RKSSLQQPSL KDGTISLSKD 910 920 930 940 950 960 LELPIIPPTH LDLSALHNVL NKPFHHRHPL HVFTHNKQNT VGETLRSNPP PSLAITPTIL 970 980 990 1000 1010 1020 KSVNLRSINK SEEVKQKEEN NTDLPYLEES TLTTAALSPS KIRPHTANKS VSRQYSTEDT 1030 1040 1050 1060 1070 1080 ILSFLDSSAV EMGPDKLHLE KNSTFDVKNR CDPETITSAG SSLLDSNVTK DQVRTETEPI 1090 1100 1110 1120 1130 1140 PENTPTKNCA FPTEGFQRVS AARPNDLDGK IIQYGPGPDE TLEQVQKAPS AGLEEVAQPE 1150 1160 1170 1180 1190 1200 SVDVITSQSD SPTRATDVSN QFKHQFVMSR HHDKVPGTIS YESEITSVNS FPEKCSKQEN 1210 1220 1230 1240 1250 1260 IASGISAKSA SDNSKAEETQ GNVDEASLKE SSPSDDSIIS PLSEDSQAEA EGVFVSPNKP 1270 1280 1290 1300 1310 1320 RTTEDLFAVI HRSKRKVLGR KDSGDMSVRS KSRAPLSSSS SSASSITSPS SNVTTPNSQR 1330 1340 1350 1360 1370 1380 SPGLIYRNAK KSNTSNEEFK LLLLKKGSRS DSSYRMSATE ILKSPILPKP PGELTAESPQ 1390 1400 1410 1420 1430 1440 STDDAHQGSQ GAEALSPLSP CSPRVNAEGF SSKSFATSAS ARVGRSRAPP AASSSRYSVR 1450 1460 1470 CRLYNTPMQA ISEGETENSD GSPHDDRSSQ SST

References

	« Hide 'large scale' referencesShow '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. , 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 1), 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 2 AND 3).
[3]	"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].
[4]	"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 943-1630. Tissue: Fetal kidney.
[5]	"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.
[6]	"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.
[7]	"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-380; SER-1155; THR-1241; SER-1308 AND SER-1478, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"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 CXN.
[9]	"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. , 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-844.
+	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. AL845433, Z93242 Genomic DNA. Translation: CAI41241.1. Z93242, AL845433 Genomic DNA. Translation: CAI42724.1. CR749300 mRNA. Translation: CAH18155.1.
IPI	IPI00375220. IPI00554497. IPI00554525.
RefSeq	NP_001129496.1. NM_001136024.2. NP_938011.1. NM_198270.2.
UniGene	Hs.201623.
3D structure databases
ProteinModelPortal	Q6T4R5.
SMR	Q6T4R5. Positions 121-275.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6T4R5. 2 interactions.
STRING	9606.ENSP00000369400.
PTM databases
PhosphoSite	Q6T4R5.
Polymorphism databases
DMDM	62286982.
Proteomic databases
PaxDb	Q6T4R5.
PRIDE	Q6T4R5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000380060; ENSP00000369400; ENSG00000188158. ENST00000398097; ENSP00000381170; ENSG00000188158.
GeneID	4810.
KEGG	hsa:4810.
UCSC	uc004cxx.3. human. uc004cxy.3. human.
Organism-specific databases
CTD	4810.
GeneCards	GC0XP017393.
HGNC	HGNC:7820. NHS.
HPA	HPA031497.
MIM	300457. gene. 302200. phenotype. 302350. phenotype.
neXtProt	NX_Q6T4R5.
Orphanet	627. Nance-Horan syndrome. 98991. Nuclear cataract. 98994. Total congenital cataract.
PharmGKB	PA31622.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG43400.
HOVERGEN	HBG052618.
InParanoid	Q6T4R5.
OMA	IPRRVQQ.
OrthoDB	EOG40S0F0.
PhylomeDB	Q6T4R5.
Gene expression databases
ArrayExpress	Q6T4R5.
Bgee	Q6T4R5.
CleanEx	HS_NHS.
Genevestigator	Q6T4R5.
GermOnline	ENSG00000188158. Homo sapiens.
Family and domain databases
InterPro	IPR024845. NHS_fam. [Graphical view]
PANTHER	PTHR23039. PTHR23039. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	NHS. human.
GenomeRNAi	4810.
NextBio	18538.
SOURCE	Search...

Entry information

Entry name

NHS_HUMAN

Accession

Primary (citable) accession number: Q6T4R5
Secondary accession number(s): Q5J7Q0, Q5J7Q1, Q68DR5

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2005
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 78 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.