Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 128 (18 Sep 2019)
Sequence version 2 (29 May 2013)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Nance-Horan syndrome protein

Gene

NHS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q6T4R5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nance-Horan syndrome protein
Alternative name(s):
Congenital cataracts and dental anomalies protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NHS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7820 NHS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300457 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6T4R5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNET

More...
DisGeNETi
4810

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
NHS

MalaCards human disease database

More...
MalaCardsi
NHS
MIMi302200 phenotype
302350 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000188158

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98991 Early-onset nuclear cataract
627 Nance-Horan syndrome
98994 Total early-onset cataract

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31622

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NHS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
510120778

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000968101 – 1651Nance-Horan syndrome proteinAdd BLAST1651

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6T4R5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6T4R5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6T4R5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6T4R5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6T4R5

PeptideAtlas

More...
PeptideAtlasi
Q6T4R5

PRoteomics IDEntifications database

More...
PRIDEi
Q6T4R5

ProteomicsDB human proteome resource

More...
ProteomicsDBi
67371 [Q6T4R5-1]
67372 [Q6T4R5-2]
67373 [Q6T4R5-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6T4R5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6T4R5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000188158 Expressed in 168 organ(s), highest expression level in oviduct epithelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6T4R5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6T4R5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA031497
HPA076257

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110875, 22 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q6T4R5

Protein interaction database and analysis system

More...
IntActi
Q6T4R5, 17 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000369400

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6T4R5

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 262WAVE homology domain (WHD)Add BLAST262

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi68 – 77Poly-Pro10
Compositional biasi112 – 117Poly-Ala6
Compositional biasi1475 – 1483Poly-Ser9

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NHS family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJ2I Eukaryota
ENOG4111BJV LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182963

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000049197

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6T4R5

Identification of Orthologs from Complete Genome Data

More...
OMAi
TEGFQRV

Database of Orthologous Groups

More...
OrthoDBi
1156054at2759

TreeFam database of animal gene trees

More...
TreeFami
TF333323

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR024845 NHS_fam

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15273 NHS, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6T4R5-1) [UniParc]FASTAAdd to basket
Also known as: NHS-A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WU78A0A087WU78_HUMAN
Nance-Horan syndrome protein
NHS
1,447Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WWC4A0A087WWC4_HUMAN
Nance-Horan syndrome protein
NHS
1,471Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITB2A0A3B3ITB2_HUMAN
Nance-Horan syndrome protein
NHS
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti305K → KQ in ADN85614 (PubMed:14564667).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076438583R → C1 Publication1
Natural variantiVAR_036225865A → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0215271340F → L. Corresponds to variant dbSNP:rs3747295Ensembl.1
Natural variantiVAR_0512341531S → T. Corresponds to variant dbSNP:rs2071848Ensembl.1
Natural variantiVAR_0215281556S → T. Corresponds to variant dbSNP:rs2071848Ensembl.1
Natural variantiVAR_0762611628A → P1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY436752 mRNA Translation: AAR03104.1
AY456993 mRNA Translation: AAS13456.1
AY456992 mRNA Translation: AAS13455.1
GQ988776 mRNA Translation: ADN85614.1
AL845433 Genomic DNA No translation available.
Z93242 Genomic DNA No translation available.
BC136415 mRNA Translation: AAI36416.1
BC171763 mRNA Translation: AAI71763.1
CR749300 mRNA Translation: CAH18155.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14181.1 [Q6T4R5-2]
CCDS48087.1 [Q6T4R5-3]

NCBI Reference Sequences

More...
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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000380060; ENSP00000369400; ENSG00000188158 [Q6T4R5-2]
ENST00000398097; ENSP00000381170; ENSG00000188158 [Q6T4R5-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4810

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4810

UCSC genome browser

More...
UCSCi
uc004cxx.4 human [Q6T4R5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 Genomic DNA No translation available.
Z93242 Genomic DNA No translation available.
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]

3D structure databases

SMRiQ6T4R5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110875, 22 interactors
ELMiQ6T4R5
IntActiQ6T4R5, 17 interactors
STRINGi9606.ENSP00000369400

PTM databases

iPTMnetiQ6T4R5
PhosphoSitePlusiQ6T4R5

Polymorphism and mutation databases

BioMutaiNHS
DMDMi510120778

Proteomic databases

EPDiQ6T4R5
jPOSTiQ6T4R5
MassIVEiQ6T4R5
MaxQBiQ6T4R5
PaxDbiQ6T4R5
PeptideAtlasiQ6T4R5
PRIDEiQ6T4R5
ProteomicsDBi67371 [Q6T4R5-1]
67372 [Q6T4R5-2]
67373 [Q6T4R5-3]

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

Comparative Toxicogenomics Database

More...
CTDi
4810
DisGeNETi4810

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NHS
GeneReviewsiNHS
HGNCiHGNC:7820 NHS
HPAiHPA031497
HPA076257
MalaCardsiNHS
MIMi300457 gene
302200 phenotype
302350 phenotype
neXtProtiNX_Q6T4R5
OpenTargetsiENSG00000188158
Orphaneti98991 Early-onset nuclear cataract
627 Nance-Horan syndrome
98994 Total early-onset cataract
PharmGKBiPA31622

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJ2I Eukaryota
ENOG4111BJV LUCA
GeneTreeiENSGT00950000182963
HOGENOMiHOG000049197
InParanoidiQ6T4R5
OMAiTEGFQRV
OrthoDBi1156054at2759
TreeFamiTF333323

Enzyme and pathway databases

SIGNORiQ6T4R5

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NHS human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NHS_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4810

Pharos

More...
Pharosi
Q6T4R5

Protein Ontology

More...
PROi
PR:Q6T4R5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000188158 Expressed in 168 organ(s), highest expression level in oviduct epithelium
ExpressionAtlasiQ6T4R5 baseline and differential
GenevisibleiQ6T4R5 HS

Family and domain databases

InterProiView protein in InterPro
IPR024845 NHS_fam
PfamiView protein in Pfam
PF15273 NHS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNHS_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6T4R5
Secondary accession number(s): B7ZVX8
, E2DH69, Q5J7Q0, Q5J7Q1, Q68DR5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: May 29, 2013
Last modified: September 18, 2019
This is version 128 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again