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Entry version 136 (18 Sep 2019)
Sequence version 3 (15 May 2007)
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Protein

Protein HEG homolog 1

Gene

HEG1

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

Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions.By similarity

<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 - Molecular functioni

GO - Biological processi

<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>Keywordsi

Molecular functionDevelopmental protein
LigandCalcium

<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:
Protein HEG homolog 1
<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:HEG1
Synonyms:KIAA1237
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29227 HEG1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614182 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9ULI3

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini30 – 1248ExtracellularSequence analysisAdd BLAST1219
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1249 – 1269HelicalSequence analysisAdd BLAST21
Topological domaini1270 – 1381CytoplasmicSequence analysisAdd BLAST112

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Secreted

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
57493

Open Targets

More...
OpenTargetsi
ENSG00000173706

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671699

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HEG1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
147645934

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 29Sequence analysisAdd BLAST29
<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_000028698130 – 1381Protein HEG homolog 1Add BLAST1352

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi67O-linked (GalNAc...) threonine1 Publication1
Glycosylationi123N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi159N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi180N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi314N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi462N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi520N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi610N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi989 ↔ 1000PROSITE-ProRule annotation
Disulfide bondi994 ↔ 1011PROSITE-ProRule annotation
Disulfide bondi1013 ↔ 1022PROSITE-ProRule annotation
Disulfide bondi1029 ↔ 1040PROSITE-ProRule annotation
Disulfide bondi1034 ↔ 1049PROSITE-ProRule annotation
Disulfide bondi1051 ↔ 1062PROSITE-ProRule annotation
Glycosylationi1137N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei1359PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9ULI3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9ULI3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9ULI3

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

More...
PaxDbi
Q9ULI3

PeptideAtlas

More...
PeptideAtlasi
Q9ULI3

PRoteomics IDEntifications database

More...
PRIDEi
Q9ULI3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85037 [Q9ULI3-1]
85038 [Q9ULI3-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
763

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9ULI3

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

More...
PhosphoSitePlusi
Q9ULI3

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9ULI3

UniCarbKB; an annotated and curated database of glycan structures

More...
UniCarbKBi
Q9ULI3

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000173706 Expressed in 245 organ(s), highest expression level in parietal pleura

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9ULI3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9ULI3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA010952
HPA011559

<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 CCM2 and KRIT1; KRIT1 markedly facilitates interaction with CCM2.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
KRIT1O005225EBI-12734419,EBI-1573121

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121560, 4 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9ULI3

Protein interaction database and analysis system

More...
IntActi
Q9ULI3, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000311502

<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
Q9ULI3

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini985 – 1023EGF-like 1PROSITE-ProRule annotationAdd BLAST39
Domaini1025 – 1063EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST39

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 biasi463 – 743Ser-richAdd BLAST281

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJZT Eukaryota
ENOG410Y1MK LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00710000106813

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112879

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9ULI3

Identification of Orthologs from Complete Genome Data

More...
OMAi
TDHTYVS

Database of Orthologous Groups

More...
OrthoDBi
236256at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9ULI3

TreeFam database of animal gene trees

More...
TreeFami
TF335941

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR028720 HEG

The PANTHER Classification System

More...
PANTHERi
PTHR24037 PTHR24037, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00008 EGF, 1 hit
PF07645 EGF_CA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 3 hits
SM00179 EGF_CA, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 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 (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9ULI3-1) [UniParc]FASTAAdd to basket

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
MASPRASRWP PPLLLLLLPL LLLPPAAPGT RDPPPSPARR ALSLAPLAGA
60 70 80 90 100
GLELQLERRP EREPPPTPPR ERRGPATPGP SYRAPEPGAA TQRGPSGRAP
110 120 130 140 150
RGGSADAAWK HWPESNTEAH VENITFYQNQ EDFSTVSSKE GVMVQTSGKS
160 170 180 190 200
HAASDAPENL TLLAETADAR GRSGSSSRTN FTILPVGYSL EIATALTSQS
210 220 230 240 250
GNLASESLHL PSSSSEFDER IAAFQTKSGT ASEMGTERAM GLSEEWTVHS
260 270 280 290 300
QEATTSAWSP SFLPALEMGE LTTPSRKRNS SGPDLSWLHF YRTAASSPLL
310 320 330 340 350
DLSSSSESTE KLNNSTGLQS SSVSQTKTMH VATVFTDGGP RTLRSLTVSL
360 370 380 390 400
GPVSKTEGFP KDSRIATTSS SVLLSPSAVE SRRNSRVTGN PGDEEFIEPS
410 420 430 440 450
TENEFGLTSL RWQNDSPTFG EHQLASSSEV QNGSPMSQTE TVSRSVAPMR
460 470 480 490 500
GGEITAHWLL TNSTTSADVT GSSASYPEGV NASVLTQFSD STVQSGGSHT
510 520 530 540 550
ALGDRSYSES SSTSSSESLN SSAPRGERSI AGISYGQVRG TAIEQRTSSD
560 570 580 590 600
HTDHTYLSST FTKGERALLS ITDNSSSSDI VESSTSYIKI SNSSHSEYSS
610 620 630 640 650
FFHAQTERSN ISSYDGEYAQ PSTESPVLHT SNLPSYTPTI NMPNTSVVLD
660 670 680 690 700
TDAEFVSDSS SSSSSSSSSS SSGPPLPLPS VSQSHHLFSS ILPSTRASVH
710 720 730 740 750
LLKSTSDAST PWSSSPSPLP VSLTTSTSAP LSVSQTTLPQ SSSTPVLPRA
760 770 780 790 800
RETPVTSFQT STMTSFMTML HSSQTADLKS QSTPHQEKVI TESKSPSLVS
810 820 830 840 850
LPTESTKAVT TNSPLPPSLT ESSTEQTLPA TSTNLAQMSP TFTTTILKTS
860 870 880 890 900
QPLMTTPGTL SSTASLVTGP IAVQTTAGKQ LSLTHPEILV PQISTEGGIS
910 920 930 940 950
TERNRVIVDA TTGLIPLTSV PTSAKEMTTK LGVTAEYSPA SRSLGTSPSP
960 970 980 990 1000
QTTVVSTAED LAPKSATFAV QSSTQSPTTV SSSASVNSCA VNPCLHNGEC
1010 1020 1030 1040 1050
VADNTSRGYH CRCPPSWQGD DCSVDVNECL SNPCPSTAMC NNTQGSFICK
1060 1070 1080 1090 1100
CPVGYQLEKG ICNLVRTFVT EFKLKRTFLN TTVEKHSDLQ EVENEITKTL
1110 1120 1130 1140 1150
NMCFSALPSY IRSTVHASRE SNAVVISLQT TFSLASNVTL FDLADRMQKC
1160 1170 1180 1190 1200
VNSCKSSAEV CQLLGSQRRI FRAGSLCKRK SPECDKDTSI CTDLDGVALC
1210 1220 1230 1240 1250
QCKSGYFQFN KMDHSCRACE DGYRLENETC MSCPFGLGGL NCGNPYQLIT
1260 1270 1280 1290 1300
VVIAAAGGGL LLILGIALIV TCCRKNKNDI SKLIFKSGDF QMSPYAEYPK
1310 1320 1330 1340 1350
NPRSQEWGRE AIEMHENGST KNLLQMTDVY YSPTSVRNPE LERNGLYPAY
1360 1370 1380
TGLPGSRHSC IFPGQYNPSF ISDESRRRDY F
Length:1,381
Mass (Da):147,461
Last modified:May 15, 2007 - v3
<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:i2E8402AC5227F95C
GO
Isoform 2 (identifier: Q9ULI3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     986-1012: VNSCAVNPCLHNGECVADNTSRGYHCR → GKTQSHKHMLTARPSPALRATWGSGFM
     1013-1381: Missing.

Note: No experimental confirmation available.
Show »
Length:1,012
Mass (Da):106,446
Checksum:i624A3558CCCACE33
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
H7C4M4H7C4M4_HUMAN
Protein HEG homolog 1
HEG1
265Annotation 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>
A0A2R8Y4Z1A0A2R8Y4Z1_HUMAN
Protein HEG homolog 1
HEG1
351Annotation 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>
H7C4K2H7C4K2_HUMAN
Protein HEG homolog 1
HEG1
63Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH67235 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC11336 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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_048984145Q → R. Corresponds to variant dbSNP:rs4404487Ensembl.1
Natural variantiVAR_059269305S → P. Corresponds to variant dbSNP:rs2981546Ensembl.1
Natural variantiVAR_032253602F → S. Corresponds to variant dbSNP:rs6790837Ensembl.1
Natural variantiVAR_032254980V → L1 PublicationCorresponds to variant dbSNP:rs10804567Ensembl.1
Natural variantiVAR_0322551039M → T. Corresponds to variant dbSNP:rs6438869Ensembl.1

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_025275986 – 1012VNSCA…GYHCR → GKTQSHKHMLTARPSPALRA TWGSGFM in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_0252761013 – 1381Missing in isoform 2. 1 PublicationAdd BLAST369

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AC026342 Genomic DNA No translation available.
AC092983 Genomic DNA No translation available.
AC117488 Genomic DNA No translation available.
AB033063 mRNA Translation: BAA86551.2
AK074987 mRNA Translation: BAC11336.1 Different initiation.
BC004539 mRNA Translation: AAH04539.2
BC067235 mRNA Translation: AAH67235.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS46898.1 [Q9ULI3-1]

NCBI Reference Sequences

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RefSeqi
NP_065784.1, NM_020733.1 [Q9ULI3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000311127; ENSP00000311502; ENSG00000173706 [Q9ULI3-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57493

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57493

UCSC genome browser

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UCSCi
uc003ehs.4 human [Q9ULI3-1]

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
AC026342 Genomic DNA No translation available.
AC092983 Genomic DNA No translation available.
AC117488 Genomic DNA No translation available.
AB033063 mRNA Translation: BAA86551.2
AK074987 mRNA Translation: BAC11336.1 Different initiation.
BC004539 mRNA Translation: AAH04539.2
BC067235 mRNA Translation: AAH67235.1 Different initiation.
CCDSiCCDS46898.1 [Q9ULI3-1]
RefSeqiNP_065784.1, NM_020733.1 [Q9ULI3-1]

3D structure databases

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Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3U7DX-ray2.49B/D1356-1381[»]
4HDQX-ray1.95C1356-1381[»]
SMRiQ9ULI3
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121560, 4 interactors
CORUMiQ9ULI3
IntActiQ9ULI3, 3 interactors
STRINGi9606.ENSP00000311502

PTM databases

GlyConnecti763
iPTMnetiQ9ULI3
PhosphoSitePlusiQ9ULI3
SwissPalmiQ9ULI3
UniCarbKBiQ9ULI3

Polymorphism and mutation databases

BioMutaiHEG1
DMDMi147645934

Proteomic databases

EPDiQ9ULI3
jPOSTiQ9ULI3
MassIVEiQ9ULI3
PaxDbiQ9ULI3
PeptideAtlasiQ9ULI3
PRIDEiQ9ULI3
ProteomicsDBi85037 [Q9ULI3-1]
85038 [Q9ULI3-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311127; ENSP00000311502; ENSG00000173706 [Q9ULI3-1]
GeneIDi57493
KEGGihsa:57493
UCSCiuc003ehs.4 human [Q9ULI3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57493
DisGeNETi57493

GeneCards: human genes, protein and diseases

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GeneCardsi
HEG1
HGNCiHGNC:29227 HEG1
HPAiHPA010952
HPA011559
MIMi614182 gene
neXtProtiNX_Q9ULI3
OpenTargetsiENSG00000173706
PharmGKBiPA142671699

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IJZT Eukaryota
ENOG410Y1MK LUCA
GeneTreeiENSGT00710000106813
HOGENOMiHOG000112879
InParanoidiQ9ULI3
OMAiTDHTYVS
OrthoDBi236256at2759
PhylomeDBiQ9ULI3
TreeFamiTF335941

Miscellaneous databases

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

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ChiTaRSi
HEG1 human

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

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GenomeRNAii
57493

Pharos

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Pharosi
Q9ULI3

Protein Ontology

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PROi
PR:Q9ULI3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000173706 Expressed in 245 organ(s), highest expression level in parietal pleura
ExpressionAtlasiQ9ULI3 baseline and differential
GenevisibleiQ9ULI3 HS

Family and domain databases

InterProiView protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR028720 HEG
PANTHERiPTHR24037 PTHR24037, 1 hit
PfamiView protein in Pfam
PF00008 EGF, 1 hit
PF07645 EGF_CA, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 3 hits
SM00179 EGF_CA, 2 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiHEG1_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: Q9ULI3
Secondary accession number(s): Q6NX66, Q8NC40, Q9BSV0
<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: May 15, 2007
Last sequence update: May 15, 2007
Last modified: September 18, 2019
This is version 136 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 3
    Human chromosome 3: 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
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