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UniProtKB - Q15751 (HERC1_HUMAN)

Entry version 177 (02 Dec 2020)
Sequence version 2 (18 May 2010)
Previous versions | rss
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Protein

Probable E3 ubiquitin-protein ligase HERC1

Gene

HERC1

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

Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine. EC:2.3.2.26

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei4811Glycyl thioester intermediatePROSITE-ProRule annotation1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionGuanine-nucleotide releasing factor, Transferase
Biological processTransport, Ubl conjugation pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q15751

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q15751

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00143

<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%5Fand%5Ftaxonomy%5Fsection">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:
Probable E3 ubiquitin-protein ligase HERC1 (EC:2.3.2.26)
Alternative name(s):
HECT domain and RCC1-like domain-containing protein 1
HECT-type E3 ubiquitin transferase HERC1
p532
p619
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:HERC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000103657.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:4867, HERC1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605109, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q15751

<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

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Membrane

<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

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients.
Related information in OMIM
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_0769954520G → E in MDFPMR. 1 PublicationCorresponds to variant dbSNP:rs769677823EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		8925

MalaCards human disease database

More...MalaCardsi		HERC1
MIMi617011, phenotype

Open Targets

More...OpenTargetsi		ENSG00000103657

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

More...Orphaneti		457359, Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29242

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q15751, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HERC1

Domain mapping of disease mutations (DMDM)

More...DMDMi		296434522

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003288711 – 4861Probable E3 ubiquitin-protein ligase HERC1Add BLAST4861

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 residuei1342PhosphoserineCombined sources1
Modified residuei1406PhosphoserineCombined sources1
Modified residuei1428PhosphoserineCombined sources1
Modified residuei1491PhosphoserineCombined sources1
Modified residuei1512PhosphoserineCombined sources1
Modified residuei1517PhosphoserineCombined sources1
Modified residuei1521PhosphoserineCombined sources1
Modified residuei2422PhosphoserineCombined sources1
Modified residuei2701PhosphothreonineCombined sources1
Modified residuei2706PhosphoserineCombined sources1
Modified residuei2710PhosphoserineCombined sources1
Modified residuei2720PhosphoserineCombined sources1
Modified residuei2723PhosphoserineCombined sources1
Modified residuei4857PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q15751

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q15751

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q15751

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q15751

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

More...PaxDbi		Q15751

PeptideAtlas

More...PeptideAtlasi		Q15751

PRoteomics IDEntifications database

More...PRIDEi		Q15751

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		60743

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q15751

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q15751

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

More...PhosphoSitePlusi		Q15751

<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

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000103657, Expressed in corpus callosum and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q15751, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q15751, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000103657, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TSC2; interaction is inhibited by TSC1.

Interacts with PKM, ARF1 and ARF6.

Forms a ternary complex with clathrin heavy chain (CLTC) and HSPA1A.

5 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114439, 77 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q15751

Protein interaction database and analysis system

More...IntActi		Q15751, 41 interactors

Molecular INTeraction database

More...MINTi		Q15751

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000390158

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q15751, protein

<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

Secondary structure

14861
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q15751

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati371 – 420RCC1 1Add BLAST50
Repeati421 – 475RCC1 2Add BLAST55
Repeati476 – 528RCC1 3Add BLAST53
Repeati529 – 578RCC1 4Add BLAST50
Repeati580 – 631RCC1 5Add BLAST52
Repeati633 – 682RCC1 6Add BLAST50
Repeati683 – 735RCC1 7Add BLAST53
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">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>Domaini2002 – 2193B30.2/SPRYPROSITE-ProRule annotationAdd BLAST192
Repeati3426 – 3465WD 1Add BLAST40
Repeati3484 – 3522WD 2Add BLAST39
Repeati3524 – 3572WD 3Add BLAST49
Repeati3580 – 3619WD 4Add BLAST40
Repeati3624 – 3663WD 5Add BLAST40
Repeati3667 – 3713WD 6Add BLAST47
Repeati3745 – 3784WD 7Add BLAST40
Repeati3996 – 4044RCC1 8Add BLAST49
Repeati4046 – 4099RCC1 9Add BLAST54
Repeati4101 – 4151RCC1 10Add BLAST51
Repeati4153 – 4203RCC1 11Add BLAST51
Repeati4205 – 4256RCC1 12Add BLAST52
Repeati4258 – 4308RCC1 13Add BLAST51
Repeati4310 – 4360RCC1 14Add BLAST51
Domaini4501 – 4848HECTPROSITE-ProRule annotationAdd BLAST348

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 biasi1349 – 1378Glu-richAdd BLAST30

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1426, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155907

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000091_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q15751

Identification of Orthologs from Complete Genome Data

More...OMAi		GVESQHQ

Database of Orthologous Groups

More...OrthoDBi		1062377at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q15751

TreeFam database of animal gene trees

More...TreeFami		TF106426

Family and domain databases

Conserved Domains Database

More...CDDi		cd00078, HECTc, 1 hit
cd12881, SPRY_HERC1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit
2.130.10.30, 2 hits
2.60.120.920, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001870, B30.2/SPRY
IPR043136, B30.2/SPRY_sf
IPR013320, ConA-like_dom_sf
IPR000569, HECT_dom
IPR035983, Hect_E3_ubiquitin_ligase
IPR009091, RCC1/BLIP-II
IPR000408, Reg_chr_condens
IPR003877, SPRY_dom
IPR035768, SPRY_HERC1
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00632, HECT, 1 hit
PF00415, RCC1, 10 hits
PF00622, SPRY, 1 hit
PF00400, WD40, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00633, RCCNDNSATION

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00119, HECTc, 1 hit
SM00449, SPRY, 1 hit
SM00320, WD40, 5 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49899, SSF49899, 1 hit
SSF50978, SSF50978, 2 hits
SSF50985, SSF50985, 2 hits
SSF56204, SSF56204, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50188, B302_SPRY, 1 hit
PS50237, HECT, 1 hit
PS00626, RCC1_2, 4 hits
PS50012, RCC1_3, 14 hits
PS00678, WD_REPEATS_1, 1 hit
PS50082, WD_REPEATS_2, 3 hits
PS50294, WD_REPEATS_REGION, 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%5Flength">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

Q15751-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATMIPPVKL KWLEHLNSSW ITEDSESIAT REGVAVLYSK LVSNKEVVPL 
        60         70         80         90        100
PQQVLCLKGP QLPDFERESL SSDEQDHYLD ALLSSQLALA KMVCSDSPFA 
       110        120        130        140        150
GALRKRLLVL QRVFYALSNK YHDKGKVKQQ QHSPESSSGS ADVHSVSERP 
       160        170        180        190        200
RSSTDALIEM GVRTGLSLLF ALLRQSWMMP VSGPGLSLCN DVIHTAIEVV 
       210        220        230        240        250
SSLPPLSLAN ESKIPPMGLD CLSQVTTFLK GVTIPNSGAD TLGRRLASEL 
       260        270        280        290        300
LLGLAAQRGS LRYLLEWIEM ALGASAVVHT MEKGKLLSSQ EGMISFDCFM 
       310        320        330        340        350
TILMQMRRSL GSSADRSQWR EPTRTSDGLC SLYEAALCLF EEVCRMASDY 
       360        370        380        390        400
SRTCASPDSI QTGDAPIVSE TCEVYVWGSN SSHQLVEGTQ EKILQPKLAP 
       410        420        430        440        450
SFSDAQTIEA GQYCTFVIST DGSVRACGKG SYGRLGLGDS NNQSTLKKLT 
       460        470        480        490        500
FEPHRSIKKV SSSKGSDGHT LAFTTEGEVF SWGDGDYGKL GHGNSSTQKY 
       510        520        530        540        550
PKLIQGPLQG KVVVCVSAGY RHSAAVTEDG ELYTWGEGDF GRLGHGDSNS 
       560        570        580        590        600
RNIPTLVKDI SNVGEVSCGS SHTIALSKDG RTVWSFGGGD NGKLGHGDTN 
       610        620        630        640        650
RVYKPKVIEA LQGMFIRKVC AGSQSSLALT STGQVYAWGC GACLGCGSSE 
       660        670        680        690        700
ATALRPKLIE ELAATRIVDV SIGDSHCLAL SHDNEVYAWG NNSMGQCGQG 
       710        720        730        740        750
NSTGPITKPK KVSGLDGIAI QQISAGTSHS LAWTALPRDR QVVAWHRPYC 
       760        770        780        790        800
VDLEESTFSH LRSFLERYCD KINSEIPPLP FPSSREHHSF LKLCLKLLSN 
       810        820        830        840        850
HLALALAGGV ATSILGRQAG PLRNLLFRLM DSTVPDEIQE VVIETLSVGA 
       860        870        880        890        900
TMLLPPLRER MELLHSLLPQ GPDRWESLSK GQRMQLDIIL TSLQDHTHVA 
       910        920        930        940        950
SLLGYSSPSD AADLSSVCTG YGNLSDQPYG TQSCHPDTHL AEILMKTLLR 
       960        970        980        990       1000
NLGFYTDQAF GELEKNSDKF LLGTSSSENS QPAHLHELLC SLQKQLLAFC 
      1010       1020       1030       1040       1050
HINNISENSS SVALLHKHLQ LLLPHATDIY SRSANLLKES PWNGSVGEKL 
      1060       1070       1080       1090       1100
RDVIYVSAAG SMLCQIVNSL LLLPVSVARP LLSYLLDLLP PLDCLNRLLP 
      1110       1120       1130       1140       1150
AADLLEDQEL QWPLHGGPEL IDPAGLPLPQ PAQSWVWLVD LERTIALLIG 
      1160       1170       1180       1190       1200
RCLGGMLQGS PVSPEEQDTA YWMKTPLFSD GVEMDTPQLD KCMSCLLEVA 
      1210       1220       1230       1240       1250
LSGNEEQKPF DYKLRPEIAV YVDLALGCSK EPARSLWISM QDYAVSKDWD 
      1260       1270       1280       1290       1300
SATLSNESLL DTVSRFVLAA LLKHTNLLSQ ACGESRYQPG KHLSEVYRCV 
      1310       1320       1330       1340       1350
YKVRSRLLAC KNLELIQTRS SSRDRWISEN QDSADVDPQE HSFTRTIDEE 
      1360       1370       1380       1390       1400
AEMEEQAERD REEGHPEPED EEEEREHEVM TAGKIFQCFL SAREVARSRD 
      1410       1420       1430       1440       1450
RDRMNSGAGS GARADDPPPQ SQQERRVSTD LPEGQDVYTA ACNSVIHRCA 
      1460       1470       1480       1490       1500
LLILGVSPVI DELQKRREEG QLQQPSTSAS EGGGLMTRSE SLTAESRLVH 
      1510       1520       1530       1540       1550
TSPNYRLIKS RSESDLSQPE SDEEGYALSG RRNVDLDLAA SHRKRGPMHS 
      1560       1570       1580       1590       1600
QLESLSDSWA RLKHSRDWLC NSSYSFESDF DLTKSLGVHT LIENVVSFVS 
      1610       1620       1630       1640       1650
GDVGNAPGFK EPEESMSTSP QASIIAMEQQ QLRAELRLEA LHQILVLLSG 
      1660       1670       1680       1690       1700
MEEKGSISLA GSRLSSGFQS STLLTSVRLQ FLAGCFGLGT VGHTGGKGES 
      1710       1720       1730       1740       1750
GRLHHYQDGI RAAKRNIQIE IQVAVHKIYQ QLSATLERAL QANKHHIEAQ 
      1760       1770       1780       1790       1800
QRLLLVTVFA LSVHYQPVDV SLAISTGLLN VLSQLCGTDT MLGQPLQLLP 
      1810       1820       1830       1840       1850
KTGVSQLSTA LKVASTRLLQ ILAITTGTYA DKLSPKVVQS LLDLLCSQLK 
      1860       1870       1880       1890       1900
NLLSQTGVLH MASFGEGEQE DGEEEEKKVD SSGETEKKDF RAALRKQHAA 
      1910       1920       1930       1940       1950
ELHLGDFLVF LRRVVSSKAI QSKMASPKWT EVLLNIASQK CSSGIPLVGN 
      1960       1970       1980       1990       2000
LRTRLLALHV LEAVLPACES GVEDDQMAQI VERLFSLLSD CMWETPIAQA 
      2010       2020       2030       2040       2050
KHAIQIKEKE QEIKLQKQGE LEEEDENLPI QEVSFDPEKA QCCLVENGQI 
      2060       2070       2080       2090       2100
LTHGSGGKGY GLASTGVTSG CYQWKFYIVK ENRGNEGTCV GVSRWPVHDF 
      2110       2120       2130       2140       2150
NHRTTSDMWL YRAYSGNLYH NGEQTLTLSS FTQGDFITCV LDMEARTISF 
      2160       2170       2180       2190       2200
GKNGEEPKLA FEDVDAAELY PCVMFYSSNP GEKVKICDMQ MRGTPRDLLP 
      2210       2220       2230       2240       2250
GDPICSPVAA VLAEATIQLI RILHRTDRWT YCINKKMMER LHKIKICIKE 
      2260       2270       2280       2290       2300
SGQKLKKSRS VQSREENEMR EEKESKEEEK GKHTRHGLAD LSELQLRTLC 
      2310       2320       2330       2340       2350
IEVWPVLAVI GGVDAGLRVG GRCVHKQTGR HATLLGVVKE GSTSAKVQWD 
      2360       2370       2380       2390       2400
EAEITISFPT FWSPSDTPLY NLEPCEPLPF DVARFRGLTA SVLLDLTYLT 
      2410       2420       2430       2440       2450
GVHEDMGKQS TKRHEKKHRH ESEEKGDVEQ KPESESALDM RTGLTSDDVK 
      2460       2470       2480       2490       2500
SQSTTSSKSE NEIASFSLDP TLPSVESQHQ ITEGKRKNHE HMSKNHDVAQ 
      2510       2520       2530       2540       2550
SEIRAVQLSY LYLGAMKSLS ALLGCSKYAE LLLIPKVLAE NGHNSDCASS 
      2560       2570       2580       2590       2600
PVVHEDVEMR AALQFLMRHM VKRAVMRSPI KRALGLADLE RAQAMIYKLV 
      2610       2620       2630       2640       2650
VHGLLEDQFG GKIKQEIDQQ AEESDPAQQA QTPVTTSPSA SSTTSFMSSS 
      2660       2670       2680       2690       2700
LEDTTTATTP VTDTETVPAS ESPGVMPLSL LRQMFSSYPT TTVLPTRRAQ 
      2710       2720       2730       2740       2750
TPPISSLPTS PSDEVGRRQS LTSPDSQSAR PANRTALSDP SSRLSTSPPP 
      2760       2770       2780       2790       2800
PAIAVPLLEM GFSLRQIAKA MEATGARGEA DAQNITVLAM WMIEHPGHED 
      2810       2820       2830       2840       2850
EEEPQSGSTA DSRPGAAVLG SGGKSNDPCY LQSPGDIPSA DAAEMEEGFS 
      2860       2870       2880       2890       2900
ESPDNLDHTE NAASGSGPSA RGRSAVTRRH KFDLAARTLL ARAAGLYRSV 
      2910       2920       2930       2940       2950
QAHRNQSRRE GISLQQDPGA LYDFNLDEEL EIDLDDEAME AMFGQDLTSD 
      2960       2970       2980       2990       3000
NDILGMWIPE VLDWPTWHVC ESEDREEVVV CELCECSVVS FNQHMKRNHP 
      3010       3020       3030       3040       3050
GCGRSANRQG YRSNGSYVDG WFGGECGSGN PYYLLCGTCR EKYLAMKTKS 
      3060       3070       3080       3090       3100
KSTSSERYKG QAPDLIGKQD SVYEEDWDML DVDEDEKLTG EEEFELLAGP 
      3110       3120       3130       3140       3150
LGLNDRRIVP EPVQFPDSDP LGASVAMVTA TNSMEETLMQ IGCHGSVEKS 
      3160       3170       3180       3190       3200
SSGRITLGEQ AAALANPHDR VVALRRVTAA AQVLLARTMV MRALSLLSVS 
      3210       3220       3230       3240       3250
GSSCSLAAGL ESLGLTDIRT LVRLMCLAAA GRAGLSTSPS AMASTSERSR 
      3260       3270       3280       3290       3300
GGHSKANKPI SCLAYLSTAV GCLASNAPSA AKLLVQLCTQ NLISAATGVN 
      3310       3320       3330       3340       3350
LTTVDDSIQR KFLPSFLRGI AEENKLVTSP NFVVTQALVA LLADKGAKLR 
      3360       3370       3380       3390       3400
PNYDKSEVEK KGPLELANAL AACCLSSRLS SQHRQWAAQQ LVRTLAAHDR 
      3410       3420       3430       3440       3450
DNQTTLQTLA DMGGDLRKCS FIKLEAHQNR VMTCVWCNKK GLLATSGNDG 
      3460       3470       3480       3490       3500
TIRVWNVTKK QYSLQQTCVF NRLEGDAEES LGSPSDPSFS PVSWSISGKY 
      3510       3520       3530       3540       3550
LAGALEKMVN IWQVNGGKGL VDIQPHWVSA LAWPEEGPAT AWSGESPELL 
      3560       3570       3580       3590       3600
LVGRMDGSLG LIEVVDVSTM HRRELEHCYR KDVSVTCIAW FSEDRPFAVG 
      3610       3620       3630       3640       3650
YFDGKLLLGT KEPLEKGGIV LIDAHKDTLI SMKWDPTGHI LMTCAKEDSV 
      3660       3670       3680       3690       3700
KLWGSISGCW CCLHSLCHPS IVNGIAWCRL PGKGSKLQLL MATGCQSGLV 
      3710       3720       3730       3740       3750
CVWRIPQDTT QTNVTSAEGW WEQESNCQDG YRKSSGAKCV YQLRGHITPV 
      3760       3770       3780       3790       3800
RTVAFSSDGL ALVSGGLGGL MNIWSLRDGS VLQTVVIGSG AIQTTVWIPE 
      3810       3820       3830       3840       3850
VGVAACSNRS KDVLVVNCTA EWAAANHVLA TCRTALKQQG VLGLNMAPCM 
      3860       3870       3880       3890       3900
RAFLERLPMM LQEQYAYEKP HVVCGDQLVH SPYMQCLASL AVGLHLDQLL 
      3910       3920       3930       3940       3950
CNPPVPPHHQ NCLPDPASWN PNEWAWLECF STTIKAAEAL TNGAQFPESF 
      3960       3970       3980       3990       4000
TVPDLEPVPE DELVFLMDNS KWINGMDEQI MSWATSRPED WHLGGKCDVY 
      4010       4020       4030       4040       4050
LWGAGRHGQL AEAGRNVMVP AAAPSFSQAQ QVICGQNCTF VIQANGTVLA 
      4060       4070       4080       4090       4100
CGEGSYGRLG QGNSDDLHVL TVISALQGFV VTQLVTSCGS DGHSMALTES 
      4110       4120       4130       4140       4150
GEVFSWGDGD YGKLGHGNSD RQRRPRQIEA LQGEEVVQMS CGFKHSAVVT 
      4160       4170       4180       4190       4200
SDGKLFTFGN GDYGRLGLGN TSNKKLPERV TALEGYQIGQ VACGLNHTLA 
      4210       4220       4230       4240       4250
VSADGSMVWA FGDGDYGKLG LGNSTAKSSP QKIDVLCGIG IKKVACGTQF 
      4260       4270       4280       4290       4300
SVALTKDGHV YTFGQDRLIG LPEGRARNHN RPQQIPVLAG VIIEDVAVGA 
      4310       4320       4330       4340       4350
EHTLALASNG DVYAWGSNSE GQLGLGHTNH VREPTLVTGL QGKNVRQISA 
      4360       4370       4380       4390       4400
GRCHSAAWTA PPVPPRAPGV SVPLQLGLPD TVPPQYGALR EVSIHTVRAR 
      4410       4420       4430       4440       4450
LRLLYHFSDL MYSSWRLLNL SPNNQNSTSH YNAGTWGIVQ GQLRPLLAPR 
      4460       4470       4480       4490       4500
VYTLPMVRSI GKTMVQGKNY GPQITVKRIS TRGRKCKPIF VQIARQVVKL 
      4510       4520       4530       4540       4550
NASDLRLPSR AWKVKLVGEG ADDAGGVFDD TITEMCQELE TGIVDLLIPS 
      4560       4570       4580       4590       4600
PNATAEVGYN RDRFLFNPSA CLDEHLMQFK FLGILMGVAI RTKKPLDLHL 
      4610       4620       4630       4640       4650
APLVWKQLCC VPLTLEDLEE VDLLYVQTLN SILHIEDSGI TEESFHEMIP 
      4660       4670       4680       4690       4700
LDSFVGQSAD GKMVPIIPGG NSIPLTFSNR KEYVERAIEY RLHEMDRQVA 
      4710       4720       4730       4740       4750
AVREGMSWIV PVPLLSLLTA KQLEQMVCGM PEISVEVLKK VVRYREVDEQ 
      4760       4770       4780       4790       4800
HQLVQWFWHT LEEFSNEERV LFMRFVSGRS RLPANTADIS QRFQIMKVDR 
      4810       4820       4830       4840       4850
PYDSLPTSQT CFFQLRLPPY SSQLVMAERL RYAINNCRSI DMDNYMLSRN 
      4860 
VDNAEGSDTD Y
Length:4,861
Mass (Da):532,228
Last modified:May 18, 2010 - 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:i31B2C1A1430B9622
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YK45H0YK45_HUMAN
Probable E3 ubiquitin-protein ligas...
HERC1
165Annotation 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>
H0YNB1H0YNB1_HUMAN
Probable E3 ubiquitin-protein ligas...
HERC1
691Annotation 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>
H0YKW7H0YKW7_HUMAN
Probable E3 ubiquitin-protein ligas...
HERC1
145Annotation 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>
H0YL74H0YL74_HUMAN
Probable E3 ubiquitin-protein ligas...
HERC1
153Annotation 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>
H0YLG2H0YLG2_HUMAN
Probable E3 ubiquitin-protein ligas...
HERC1
152Annotation 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>
H0YMH0H0YMH0_HUMAN
Probable E3 ubiquitin-protein ligas...
HERC1
47Annotation 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>
H0YL07H0YL07_HUMAN
Probable E3 ubiquitin-protein ligas...
HERC1
20Annotation 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>
H0YK60H0YK60_HUMAN
Probable E3 ubiquitin-protein ligas...
HERC1
26Annotation 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 conflicti1532R → Q in AAD12586 (PubMed:8861955).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0425561088L → F. Corresponds to variant dbSNP:rs1063423Ensembl.1
Natural variantiVAR_0425571278L → F. Corresponds to variant dbSNP:rs3764187Ensembl.1
Natural variantiVAR_0425581411G → V. Corresponds to variant dbSNP:rs36089909EnsemblClinVar.1
Natural variantiVAR_0425591447H → N. Corresponds to variant dbSNP:rs7162519Ensembl.1
Natural variantiVAR_0425601572S → A. Corresponds to variant dbSNP:rs16947363EnsemblClinVar.1
Natural variantiVAR_0425611696G → A1 PublicationCorresponds to variant dbSNP:rs2255243Ensembl.1
Natural variantiVAR_0425621995T → A. Corresponds to variant dbSNP:rs2228512Ensembl.1
Natural variantiVAR_0425632220I → V1 PublicationCorresponds to variant dbSNP:rs2228510Ensembl.1
Natural variantiVAR_0425642816A → T. Corresponds to variant dbSNP:rs35122568EnsemblClinVar.1
Natural variantiVAR_0425653152S → F. Corresponds to variant dbSNP:rs2228513Ensembl.1
Natural variantiVAR_0815343485S → N De novo variant found in a patient with childhood apraxia of speech; unknown pathological significance. 1 Publication1
Natural variantiVAR_0425663517G → R. Corresponds to variant dbSNP:rs7182782Ensembl.1
Natural variantiVAR_0425673722E → D1 PublicationCorresponds to variant dbSNP:rs2229749Ensembl.1
Natural variantiVAR_0571224394I → V. Corresponds to variant dbSNP:rs2228516EnsemblClinVar.1
Natural variantiVAR_0769954520G → E in MDFPMR. 1 PublicationCorresponds to variant dbSNP:rs769677823EnsemblClinVar.1

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
U50078 mRNA Translation: AAD12586.1
AC073167 Genomic DNA No translation available.
AC118274 Genomic DNA No translation available.
BC040929 mRNA Translation: AAH40929.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS45277.1

Protein sequence database of the Protein Information Resource

More...PIRi		S71752

NCBI Reference Sequences

More...RefSeqi		NP_003913.3, NM_003922.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000443617; ENSP00000390158; ENSG00000103657

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8925

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8925

UCSC genome browser

More...UCSCi		uc002amp.4, human

Keywords - Coding sequence diversityi

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
U50078 mRNA Translation: AAD12586.1
AC073167 Genomic DNA No translation available.
AC118274 Genomic DNA No translation available.
BC040929 mRNA Translation: AAH40929.1
CCDSiCCDS45277.1
PIRiS71752
RefSeqiNP_003913.3, NM_003922.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4O2WX-ray2.00A/B/C/D3975-4360[»]
4QT6X-ray1.64A2035-2192[»]
SMRiQ15751
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114439, 77 interactors
CORUMiQ15751
IntActiQ15751, 41 interactors
MINTiQ15751
STRINGi9606.ENSP00000390158

PTM databases

iPTMnetiQ15751
MetOSiteiQ15751
PhosphoSitePlusiQ15751

Polymorphism and mutation databases

BioMutaiHERC1
DMDMi296434522

Proteomic databases

EPDiQ15751
jPOSTiQ15751
MassIVEiQ15751
MaxQBiQ15751
PaxDbiQ15751
PeptideAtlasiQ15751
PRIDEiQ15751
ProteomicsDBi60743

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25716, 50 antibodies

Genome annotation databases

EnsembliENST00000443617; ENSP00000390158; ENSG00000103657
GeneIDi8925
KEGGihsa:8925
UCSCiuc002amp.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8925
DisGeNETi8925
EuPathDBiHostDB:ENSG00000103657.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		HERC1
HGNCiHGNC:4867, HERC1
HPAiENSG00000103657, Low tissue specificity
MalaCardsiHERC1
MIMi605109, gene
617011, phenotype
neXtProtiNX_Q15751
OpenTargetsiENSG00000103657
Orphaneti457359, Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
PharmGKBiPA29242

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1426, Eukaryota
GeneTreeiENSGT00940000155907
HOGENOMiCLU_000091_0_0_1
InParanoidiQ15751
OMAiGVESQHQ
OrthoDBi1062377at2759
PhylomeDBiQ15751
TreeFamiTF106426

Enzyme and pathway databases

UniPathwayiUPA00143
PathwayCommonsiQ15751
ReactomeiR-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiQ15751

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8925, 15 hits in 843 CRISPR screens

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

More...ChiTaRSi		HERC1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		HERC1

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

More...GenomeRNAii		8925
PharosiQ15751, Tbio

Protein Ontology

More...PROi		PR:Q15751
RNActiQ15751, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000103657, Expressed in corpus callosum and 238 other tissues
ExpressionAtlasiQ15751, baseline and differential
GenevisibleiQ15751, HS

Family and domain databases

CDDicd00078, HECTc, 1 hit
cd12881, SPRY_HERC1, 1 hit
Gene3Di2.130.10.10, 1 hit
2.130.10.30, 2 hits
2.60.120.920, 1 hit
InterProiView protein in InterPro
IPR001870, B30.2/SPRY
IPR043136, B30.2/SPRY_sf
IPR013320, ConA-like_dom_sf
IPR000569, HECT_dom
IPR035983, Hect_E3_ubiquitin_ligase
IPR009091, RCC1/BLIP-II
IPR000408, Reg_chr_condens
IPR003877, SPRY_dom
IPR035768, SPRY_HERC1
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00632, HECT, 1 hit
PF00415, RCC1, 10 hits
PF00622, SPRY, 1 hit
PF00400, WD40, 2 hits
PRINTSiPR00633, RCCNDNSATION
SMARTiView protein in SMART
SM00119, HECTc, 1 hit
SM00449, SPRY, 1 hit
SM00320, WD40, 5 hits
SUPFAMiSSF49899, SSF49899, 1 hit
SSF50978, SSF50978, 2 hits
SSF50985, SSF50985, 2 hits
SSF56204, SSF56204, 1 hit
PROSITEiView protein in PROSITE
PS50188, B302_SPRY, 1 hit
PS50237, HECT, 1 hit
PS00626, RCC1_2, 4 hits
PS50012, RCC1_3, 14 hits
PS00678, WD_REPEATS_1, 1 hit
PS50082, WD_REPEATS_2, 3 hits
PS50294, WD_REPEATS_REGION, 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 nameiHERC1_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: Q15751
Secondary accession number(s): Q8IW65
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: May 18, 2010
Last modified: December 2, 2020
This is version 177 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

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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