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Protein

Nance-Horan syndrome protein

Gene

NHS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-32913-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:7820. NHS.

Subcellular locationi

Isoform 1 :

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Nance-Horan syndrome (NHS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:302350
Cataract 40 (CTRCT40)1 Publication
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.
Disease descriptionAn 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.
See also OMIM:302200

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNETi4810.
MalaCardsiNHS.
MIMi302200. phenotype.
302350. phenotype.
OpenTargetsiENSG00000188158.
Orphaneti627. Nance-Horan syndrome.
98991. Nuclear cataract.
98994. Total congenital cataract.
PharmGKBiPA31622.

Polymorphism and mutation databases

BioMutaiNHS.
DMDMi510120778.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000968101 – 1651Nance-Horan syndrome proteinAdd BLAST1651

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei332PhosphothreonineCombined sources1
Modified residuei401PhosphothreonineCombined sources1
Modified residuei415PhosphoserineCombined sources1
Modified residuei533PhosphoserineCombined sources1
Modified residuei739PhosphoserineCombined sources1
Modified residuei1176PhosphoserineCombined sources1
Modified residuei1262PhosphothreonineCombined sources1
Modified residuei1329PhosphoserineCombined sources1
Modified residuei1499PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6T4R5.
MaxQBiQ6T4R5.
PaxDbiQ6T4R5.
PeptideAtlasiQ6T4R5.
PRIDEiQ6T4R5.

PTM databases

iPTMnetiQ6T4R5.
PhosphoSitePlusiQ6T4R5.

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

BgeeiENSG00000188158.
CleanExiHS_NHS.
ExpressionAtlasiQ6T4R5. baseline and differential.
GenevisibleiQ6T4R5. HS.

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. 17 interactors.
IntActiQ6T4R5. 17 interactors.
STRINGi9606.ENSP00000369400.

Structurei

3D structure databases

ProteinModelPortaliQ6T4R5.
SMRiQ6T4R5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 262WAVE homology domain (WHD)Add BLAST262

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi68 – 77Poly-Pro10
Compositional biasi112 – 117Poly-Ala6
Compositional biasi1475 – 1483Poly-Ser9

Sequence similaritiesi

Belongs to the NHS family.Curated

Phylogenomic databases

eggNOGiENOG410IJ2I. Eukaryota.
ENOG4111BJV. LUCA.
GeneTreeiENSGT00530000063248.
HOGENOMiHOG000049197.
HOVERGENiHBG052618.
InParanoidiQ6T4R5.
OMAiNSFPEKC.
OrthoDBiEOG091G0ZV8.
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. AlignAdd to basket

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

        10         20         30         40         50
MPFAKRIVEP QWLCRQRRPA PGPAVDASGG SAEPPPPLQP PGRRDLDEVE
60 70 80 90 100
APGPEEPARA VPAPSGLPPP PPPLPAPADQ TQPPHGEASV AGEESTAGIP
110 120 130 140 150
EAAPAAGEAS SAAAAAAVLL MLDLCAVSNA ALARVLRQLS DVARHACSLF
160 170 180 190 200
QELESDIQLT HRRVWALQGK LGGVQRVLST LDPKQEAVPV SNLDIESKLS
210 220 230 240 250
VYYRAPWHQQ RNIFLPATRP PCVEELHRHA RQSLQALRRE HRSRSDRREQ
260 270 280 290 300
RAAAPLSIAA PPLPAYPPAH SQRRREFKDR HFLTFNSTRS PSPTECCHMT
310 320 330 340 350
PWSRKSHPPE DEDTDVMLGQ RPKNPIHNIP STLDKQTNWS KALPLPTPEE
360 370 380 390 400
KMKQDAQVIS SCIIPINVTG VGFDREASIR CSLVHSQSVL QRRRKLRRRK
410 420 430 440 450
TISGIPRRVQ QEIDSDESPV ARERNVIVHT NPDPSNTVNR ISGTRDSECQ
460 470 480 490 500
TEDILIAAPS RRRIRAQRGQ SIAASLSHSA GNISALADKG DTMFTPAVSS
510 520 530 540 550
RTRSRSLPRE GNRGGDAEPK VGAKPSAYEE GESFVGDHER TPNDFSEAPS
560 570 580 590 600
SPSAQDHQPT LGLACSQHLH SPQHKLSERG RSRLSRMAAD SGSCDISSNS
610 620 630 640 650
DTFGSPIHCI STAGVLLSSH MDQKDDHQSS SGNWSGSSST CPSQTSETIP
660 670 680 690 700
PAASPPLTGS SHCDSELSLN TAPHANEDAS VFVTEQYNDH LDKVRGHRAN
710 720 730 740 750
SFTSTVADLL DDPNNSNTSD SEWNYLHHHH DASCRQDFSP ERPKADSLGC
760 770 780 790 800
PSFTSMATYD SFLEKSPSDK ADTSSHFSVD TEGYYTSMHF DCGLKGNKSY
810 820 830 840 850
VCHYAALGPE NGQGVGASPG LPDCAWQDYL DHKRQGRPSI SFRKPKAKPT
860 870 880 890 900
PPKRSSSLRK SDGNADISEK KEPKISSGQH LPHSSREMKL PLDFANTPSR
910 920 930 940 950
MENANLPTKQ EPSWINQSEQ GIKEPQLDAS DIPPFKDEVA ESTHYADLWL
960 970 980 990 1000
LNDLKTNDPY RSLSNSSTAT GTTVIECIKS PESSESQTSQ SESRATTPSL
1010 1020 1030 1040 1050
PSVDNEFKLA SPEKLAGLAS PSSGYSSQSE TPTSSFPTAF FSGPLSPGGS
1060 1070 1080 1090 1100
KRKPKVPERK SSLQQPSLKD GTISLSKDLE LPIIPPTHLD LSALHNVLNK
1110 1120 1130 1140 1150
PFHHRHPLHV FTHNKQNTVG ETLRSNPPPS LAITPTILKS VNLRSINKSE
1160 1170 1180 1190 1200
EVKQKEENNT DLPYLEESTL TTAALSPSKI RPHTANKSVS RQYSTEDTIL
1210 1220 1230 1240 1250
SFLDSSAVEM GPDKLHLEKN STFDVKNRCD PETITSAGSS LLDSNVTKDQ
1260 1270 1280 1290 1300
VRTETEPIPE NTPTKNCAFP TEGFQRVSAA RPNDLDGKII QYGPGPDETL
1310 1320 1330 1340 1350
EQVQKAPSAG LEEVAQPESV DVITSQSDSP TRATDVSNQF KHQFVMSRHH
1360 1370 1380 1390 1400
DKVPGTISYE SEITSVNSFP EKCSKQENIA SGISAKSASD NSKAEETQGN
1410 1420 1430 1440 1450
VDEASLKESS PSDDSIISPL SEDSQAEAEG VFVSPNKPRT TEDLFAVIHR
1460 1470 1480 1490 1500
SKRKVLGRKD SGDMSVRSKS RAPLSSSSSS ASSITSPSSN VTTPNSQRSP
1510 1520 1530 1540 1550
GLIYRNAKKS NTSNEEFKLL LLKKGSRSDS SYRMSATEIL KSPILPKPPG
1560 1570 1580 1590 1600
ELTAESPQST DDAHQGSQGA EALSPLSPCS PRVNAEGFSS KSFATSASAR
1610 1620 1630 1640 1650
VGRSRAPPAA SSSRYSVRCR LYNTPMQAIS EGETENSDGS PHDDRSSQSS

T
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)DescriptionActionsGraphical viewLength
Sequence conflicti305K → KQ in ADN85614 (PubMed:14564667).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076438583R → C.1 Publication1
Natural variantiVAR_036225865A → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0215271340F → L.Corresponds to variant rs3747295dbSNPEnsembl.1
Natural variantiVAR_0512341531S → T.Corresponds to variant rs2071848dbSNPEnsembl.1
Natural variantiVAR_0215281556S → T.Corresponds to variant rs2071848dbSNPEnsembl.1
Natural variantiVAR_0762611628A → P.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0465371 – 12MPFAK…VEPQW → MALACCMPKNAA in isoform 3. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_0465381 – 11MPFAKRIVEPQ → MDNALFLCLAA in isoform 4. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_04653912Missing in isoform 4. 1 Publication1
Alternative sequenceiVSP_04654013 – 189Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST177
Alternative sequenceiVSP_046541285 – 305Missing in isoform 2. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human. [Q6T4R5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ6T4R5.
SMRiQ6T4R5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110875. 17 interactors.
IntActiQ6T4R5. 17 interactors.
STRINGi9606.ENSP00000369400.

PTM databases

iPTMnetiQ6T4R5.
PhosphoSitePlusiQ6T4R5.

Polymorphism and mutation databases

BioMutaiNHS.
DMDMi510120778.

Proteomic databases

EPDiQ6T4R5.
MaxQBiQ6T4R5.
PaxDbiQ6T4R5.
PeptideAtlasiQ6T4R5.
PRIDEiQ6T4R5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380060; ENSP00000369400; ENSG00000188158. [Q6T4R5-2]
ENST00000398097; ENSP00000381170; ENSG00000188158. [Q6T4R5-3]
GeneIDi4810.
KEGGihsa:4810.
UCSCiuc004cxx.4. human. [Q6T4R5-1]

Organism-specific databases

CTDi4810.
DisGeNETi4810.
GeneCardsiNHS.
HGNCiHGNC:7820. NHS.
HPAiHPA031497.
MalaCardsiNHS.
MIMi300457. gene.
302200. phenotype.
302350. phenotype.
neXtProtiNX_Q6T4R5.
OpenTargetsiENSG00000188158.
Orphaneti627. Nance-Horan syndrome.
98991. Nuclear cataract.
98994. Total congenital cataract.
PharmGKBiPA31622.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ2I. Eukaryota.
ENOG4111BJV. LUCA.
GeneTreeiENSGT00530000063248.
HOGENOMiHOG000049197.
HOVERGENiHBG052618.
InParanoidiQ6T4R5.
OMAiNSFPEKC.
OrthoDBiEOG091G0ZV8.
TreeFamiTF333323.

Enzyme and pathway databases

BioCyciZFISH:G66-32913-MONOMER.

Miscellaneous databases

ChiTaRSiNHS. human.
GeneWikiiNHS_(gene).
GenomeRNAii4810.
PROiQ6T4R5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188158.
CleanExiHS_NHS.
ExpressionAtlasiQ6T4R5. baseline and differential.
GenevisibleiQ6T4R5. HS.

Family and domain databases

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

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: November 2, 2016
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.