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Entry version 155 (05 Jun 2019)
Sequence version 2 (10 Jan 2006)
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Protein

Hemicentin-1

Gene

HMCN1

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

Promotes cleavage furrow maturation during cytokinesis in preimplantation embryos. May play a role in the architecture of adhesive and flexible epithelial cell junctions. May play a role during myocardial remodeling by imparting an effect on cardiac fibroblast migration.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

Biological processCell cycle, Cell division, Sensory transduction, Vision
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:
Hemicentin-1
Alternative name(s):
Fibulin-6
Short name:
FIBL-6
<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:HMCN1
Synonyms:FIBL6
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19194 HMCN1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608548 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q96RW7

<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

Basement membrane, Cell junction, Cytoplasm, Extracellular matrix, 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

<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

Macular degeneration, age-related, 1 (ARMD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
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_0248185345Q → R in ARMD1. 1 PublicationCorresponds to variant dbSNP:rs121434382EnsemblClinVar.1

Keywords - Diseasei

Age-related macular degeneration, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
83872

MalaCards human disease database

More...
MalaCardsi
HMCN1
MIMi603075 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000143341

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

More...
Orphaneti
279 NON RARE IN EUROPE: Age-related macular degeneration

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671679

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HMCN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
85542049

<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 – 21Sequence analysisAdd BLAST21
<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_000004539122 – 5635Hemicentin-1Add BLAST5614

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>Glycosylationi349N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi390N-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 bondi451 ↔ 499By similarity
Glycosylationi528N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi541 ↔ 591By similarity
Glycosylationi550N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi573N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi620N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi633 ↔ 681By similarity
Glycosylationi693N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi723 ↔ 772By similarity
Glycosylationi809N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi814 ↔ 867By similarity
Disulfide bondi911 ↔ 960By similarity
Glycosylationi970N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1002 ↔ 1051By similarity
Disulfide bondi1101 ↔ 1150By similarity
Glycosylationi1158N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1192 ↔ 1241By similarity
Glycosylationi1272N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1288 ↔ 1338By similarity
Glycosylationi1369N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1382 ↔ 1431By similarity
Disulfide bondi1475 ↔ 1525By similarity
Glycosylationi1552N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1569 ↔ 1618By similarity
Disulfide bondi1663 ↔ 1712By similarity
Disulfide bondi1756 ↔ 1805By similarity
Disulfide bondi1848 ↔ 1898By similarity
Glycosylationi1929N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1942 ↔ 1991By similarity
Disulfide bondi2033 ↔ 2083By similarity
Glycosylationi2112N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2125 ↔ 2174By similarity
Glycosylationi2155N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2218 ↔ 2269By similarity
Disulfide bondi2314 ↔ 2363By similarity
Glycosylationi2395N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2408 ↔ 2457By similarity
Disulfide bondi2501 ↔ 2550By similarity
Disulfide bondi2597 ↔ 2646By similarity
Glycosylationi2689N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2696 ↔ 2745By similarity
Disulfide bondi2799 ↔ 2848By similarity
Glycosylationi2887N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2894 ↔ 2943By similarity
Glycosylationi2973N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2986 ↔ 3035By similarity
Disulfide bondi3081 ↔ 3130By similarity
Disulfide bondi3173 ↔ 3224By similarity
Glycosylationi3221N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3268 ↔ 3319By similarity
Glycosylationi3300N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3364 ↔ 3413By similarity
Disulfide bondi3457 ↔ 3506By similarity
Glycosylationi3530N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3550 ↔ 3599By similarity
Disulfide bondi3643 ↔ 3692By similarity
Glycosylationi3689N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3727N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3734 ↔ 3783By similarity
Glycosylationi3812N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3825 ↔ 3876By similarity
Disulfide bondi3918 ↔ 3967By similarity
Disulfide bondi4009 ↔ 4058By similarity
Glycosylationi4029N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi4100 ↔ 4148By similarity
Disulfide bondi4190 ↔ 4239By similarity
Disulfide bondi4281 ↔ 4328By similarity
Disulfide bondi4371 ↔ 4419By similarity
Glycosylationi4401N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi4461 ↔ 4509By similarity
Glycosylationi4491N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi4541 ↔ 4578By similarity
Disulfide bondi4545 ↔ 4583By similarity
Disulfide bondi4556 ↔ 4568By similarity
Disulfide bondi4598 ↔ 4635By similarity
Disulfide bondi4602 ↔ 4640By similarity
Glycosylationi4606N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi4613 ↔ 4625By similarity
Disulfide bondi4655 ↔ 4692By similarity
Disulfide bondi4659 ↔ 4697By similarity
Disulfide bondi4670 ↔ 4682By similarity
Disulfide bondi4712 ↔ 4749By similarity
Disulfide bondi4716 ↔ 4754By similarity
Disulfide bondi4727 ↔ 4739By similarity
Disulfide bondi4769 ↔ 4806By similarity
Disulfide bondi4773 ↔ 4811By similarity
Disulfide bondi4784 ↔ 4796By similarity
Disulfide bondi4826 ↔ 4863By similarity
Disulfide bondi4830 ↔ 4868By similarity
Disulfide bondi4841 ↔ 4853By similarity
Glycosylationi4894N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi5040N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi5111 ↔ 5121By similarity
Disulfide bondi5117 ↔ 5130By similarity
Disulfide bondi5132 ↔ 5145By similarity
Disulfide bondi5196 ↔ 5206By similarity
Disulfide bondi5202 ↔ 5215By similarity
Disulfide bondi5217 ↔ 5228By similarity
Glycosylationi5267N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi5276 ↔ 5289By similarity
Disulfide bondi5283 ↔ 5298By similarity
Disulfide bondi5319 ↔ 5330By similarity
Disulfide bondi5326 ↔ 5339By similarity
Disulfide bondi5341 ↔ 5354By similarity
Disulfide bondi5436 ↔ 5446By similarity
Disulfide bondi5442 ↔ 5455By similarity
Disulfide bondi5457 ↔ 5470By similarity
Glycosylationi5615N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96RW7

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96RW7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96RW7

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

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PaxDbi
Q96RW7

PeptideAtlas

More...
PeptideAtlasi
Q96RW7

PRoteomics IDEntifications database

More...
PRIDEi
Q96RW7

ProteomicsDB human proteome resource

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ProteomicsDBi
78045
78046 [Q96RW7-2]
78047 [Q96RW7-3]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q96RW7

GlyConnect protein glycosylation platform

More...
GlyConnecti
1306

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96RW7

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

More...
PhosphoSitePlusi
Q96RW7

<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

Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells (PubMed:14570714).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000143341 Expressed in 157 organ(s), highest expression level in thoracic aorta

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96RW7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96RW7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051677

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123785, 5 interactors

Protein interaction database and analysis system

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IntActi
Q96RW7, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000271588

<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

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SMRi
Q96RW7

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>Domaini41 – 216VWFAAdd BLAST176
Domaini431 – 517Ig-like C2-type 1Add BLAST87
Domaini520 – 607Ig-like C2-type 2Add BLAST88
Domaini612 – 697Ig-like C2-type 3Add BLAST86
Domaini702 – 788Ig-like C2-type 4Add BLAST87
Domaini793 – 883Ig-like C2-type 5Add BLAST91
Domaini890 – 976Ig-like C2-type 6Add BLAST87
Domaini981 – 1067Ig-like C2-type 7Add BLAST87
Domaini1072 – 1166Ig-like C2-type 8Add BLAST95
Domaini1171 – 1255Ig-like C2-type 9Add BLAST85
Domaini1262 – 1354Ig-like C2-type 10Add BLAST93
Domaini1358 – 1447Ig-like C2-type 11Add BLAST90
Domaini1452 – 1541Ig-like C2-type 12Add BLAST90
Domaini1546 – 1634Ig-like C2-type 13Add BLAST89
Domaini1638 – 1724Ig-like C2-type 14Add BLAST87
Domaini1733 – 1821Ig-like C2-type 15Add BLAST89
Domaini1826 – 1914Ig-like C2-type 16Add BLAST89
Domaini1919 – 2007Ig-like C2-type 17Add BLAST89
Domaini2012 – 2097Ig-like C2-type 18Add BLAST86
Domaini2104 – 2190Ig-like C2-type 19Add BLAST87
Domaini2195 – 2285Ig-like C2-type 20Add BLAST91
Domaini2290 – 2379Ig-like C2-type 21Add BLAST90
Domaini2384 – 2470Ig-like C2-type 22Add BLAST87
Domaini2478 – 2564Ig-like C2-type 23Add BLAST87
Domaini2571 – 2662Ig-like C2-type 24Add BLAST92
Domaini2666 – 2763Ig-like C2-type 25Add BLAST98
Domaini2766 – 2864Ig-like C2-type 26Add BLAST99
Domaini2868 – 2959Ig-like C2-type 27Add BLAST92
Domaini2964 – 3051Ig-like C2-type 28Add BLAST88
Domaini3056 – 3146Ig-like C2-type 29Add BLAST91
Domaini3151 – 3240Ig-like C2-type 30Add BLAST90
Domaini3245 – 3335Ig-like C2-type 31Add BLAST91
Domaini3340 – 3429Ig-like C2-type 32Add BLAST90
Domaini3434 – 3516Ig-like C2-type 33Add BLAST83
Domaini3527 – 3615Ig-like C2-type 34Add BLAST89
Domaini3620 – 3708Ig-like C2-type 35Add BLAST89
Domaini3713 – 3797Ig-like C2-type 36Add BLAST85
Domaini3804 – 3892Ig-like C2-type 37Add BLAST89
Domaini3897 – 3983Ig-like C2-type 38Add BLAST87
Domaini3988 – 4076Ig-like C2-type 39Add BLAST89
Domaini4079 – 4164Ig-like C2-type 40Add BLAST86
Domaini4169 – 4255Ig-like C2-type 41Add BLAST87
Domaini4260 – 4344Ig-like C2-type 42Add BLAST85
Domaini4348 – 4435Ig-like C2-type 43Add BLAST88
Domaini4440 – 4527Ig-like C2-type 44Add BLAST88
Domaini4529 – 4584TSP type-1 1PROSITE-ProRule annotationAdd BLAST56
Domaini4586 – 4641TSP type-1 2PROSITE-ProRule annotationAdd BLAST56
Domaini4643 – 4698TSP type-1 3PROSITE-ProRule annotationAdd BLAST56
Domaini4700 – 4755TSP type-1 4PROSITE-ProRule annotationAdd BLAST56
Domaini4757 – 4812TSP type-1 5PROSITE-ProRule annotationAdd BLAST56
Domaini4814 – 4869TSP type-1 6PROSITE-ProRule annotationAdd BLAST56
Domaini4871 – 5093Nidogen G2 beta-barrelPROSITE-ProRule annotationAdd BLAST223
Domaini5107 – 5146EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini5147 – 5191EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST45
Domaini5192 – 5229EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST38
Domaini5230 – 5271EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini5272 – 5307EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini5315 – 5355EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini5432 – 5471EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST40

Keywords - Domaini

EGF-like domain, Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4475 Eukaryota
ENOG410ZN3C LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154614

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231553

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96RW7

KEGG Orthology (KO)

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KOi
K17341

Identification of Orthologs from Complete Genome Data

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OMAi
MIEIRNP

Database of Orthologous Groups

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OrthoDBi
38313at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96RW7

Family and domain databases

Conserved Domains Database

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CDDi
cd00255 nidG2, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.20.100.10, 5 hits
2.60.40.10, 44 hits
3.40.50.410, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026823 cEGF
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
IPR006605 G2_nidogen/fibulin_G2F
IPR009017 GFP
IPR009030 Growth_fac_rcpt_cys_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR013106 Ig_V-set
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
IPR036465 vWFA_dom_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF12662 cEGF, 1 hit
PF07645 EGF_CA, 6 hits
PF07474 G2F, 1 hit
PF07679 I-set, 33 hits
PF00090 TSP_1, 6 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00181 EGF, 8 hits
SM00179 EGF_CA, 8 hits
SM00682 G2F, 1 hit
SM00409 IG, 44 hits
SM00408 IGc2, 44 hits
SM00406 IGv, 15 hits
SM00209 TSP1, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48726 SSF48726, 44 hits
SSF53300 SSF53300, 1 hit
SSF54511 SSF54511, 1 hit
SSF57184 SSF57184, 3 hits
SSF82895 SSF82895, 6 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 5 hits
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 8 hits
PS50835 IG_LIKE, 44 hits
PS50993 NIDOGEN_G2, 1 hit
PS50092 TSP1, 6 hits

<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 (3+)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 3 <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 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96RW7-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MISWEVVHTV FLFALLYSSL AQDASPQSEI RAEEIPEGAS TLAFVFDVTG
60 70 80 90 100
SMYDDLVQVI EGASKILETS LKRPKRPLFN FALVPFHDPE IGPVTITTDP
110 120 130 140 150
KKFQYELREL YVQGGGDCPE MSIGAIKIAL EISLPGSFIY VFTDARSKDY
160 170 180 190 200
RLTHEVLQLI QQKQSQVVFV LTGDCDDRTH IGYKVYEEIA STSSGQVFHL
210 220 230 240 250
DKKQVNEVLK WVEEAVQASK VHLLSTDHLE QAVNTWRIPF DPSLKEVTVS
260 270 280 290 300
LSGPSPMIEI RNPLGKLIKK GFGLHELLNI HNSAKVVNVK EPEAGMWTVK
310 320 330 340 350
TSSSGRHSVR ITGLSTIDFR AGFSRKPTLD FKKTVSRPVQ GIPTYVLLNT
360 370 380 390 400
SGISTPARID LLELLSISGS SLKTIPVKYY PHRKPYGIWN ISDFVPPNEA
410 420 430 440 450
FFLKVTGYDK DDYLFQRVSS VSFSSIVPDA PKVTMPEKTP GYYLQPGQIP
460 470 480 490 500
CSVDSLLPFT LSFVRNGVTL GVDQYLKESA SVNLDIAKVT LSDEGFYECI
510 520 530 540 550
AVSSAGTGRA QTFFDVSEPP PVIQVPNNVT VTPGERAVLT CLIISAVDYN
560 570 580 590 600
LTWQRNDRDV RLAEPARIRT LANLSLELKS VKFNDAGEYH CMVSSEGGSS
610 620 630 640 650
AASVFLTVQE PPKVTVMPKN QSFTGGSEVS IMCSATGYPK PKIAWTVNDM
660 670 680 690 700
FIVGSHRYRM TSDGTLFIKN AAPKDAGIYG CLASNSAGTD KQNSTLRYIE
710 720 730 740 750
APKLMVVQSE LLVALGDITV MECKTSGIPP PQVKWFKGDL ELRPSTFLII
760 770 780 790 800
DPLLGLLKIQ ETQDLDAGDY TCVAINEAGR ATGKITLDVG SPPVFIQEPA
810 820 830 840 850
DVSMEIGSNV TLPCYVQGYP EPTIKWRRLD NMPIFSRPFS VSSISQLRTG
860 870 880 890 900
ALFILNLWAS DKGTYICEAE NQFGKIQSET TVTVTGLVAP LIGISPSVAN
910 920 930 940 950
VIEGQQLTLP CTLLAGNPIP ERRWIKNSAM LLQNPYITVR SDGSLHIERV
960 970 980 990 1000
QLQDGGEYTC VASNVAGTNN KTTSVVVHVL PTIQHGQQIL STIEGIPVTL
1010 1020 1030 1040 1050
PCKASGNPKP SVIWSKKGEL ISTSSAKFSA GADGSLYVVS PGGEESGEYV
1060 1070 1080 1090 1100
CTATNTAGYA KRKVQLTVYV RPRVFGDQRG LSQDKPVEIS VLAGEEVTLP
1110 1120 1130 1140 1150
CEVKSLPPPI ITWAKETQLI SPFSPRHTFL PSGSMKITET RTSDSGMYLC
1160 1170 1180 1190 1200
VATNIAGNVT QAVKLNVHVP PKIQRGPKHL KVQVGQRVDI PCNAQGTPLP
1210 1220 1230 1240 1250
VITWSKGGST MLVDGEHHVS NPDGTLSIDQ ATPSDAGIYT CVATNIAGTD
1260 1270 1280 1290 1300
ETEITLHVQE PPTVEDLEPP YNTTFQERVA NQRIEFPCPA KGTPKPTIKW
1310 1320 1330 1340 1350
LHNGRELTGR EPGISILEDG TLLVIASVTP YDNGEYICVA VNEAGTTERK
1360 1370 1380 1390 1400
YNLKVHVPPV IKDKEQVTNV SVLLNQLTNL FCEVEGTPSP IIMWYKDNVQ
1410 1420 1430 1440 1450
VTESSTIQTV NNGKILKLFR ATPEDAGRYS CKAINIAGTS QKYFNIDVLV
1460 1470 1480 1490 1500
PPTIIGTNFP NEVSVVLNRD VALECQVKGT PFPDIHWFKD GKPLFLGDPN
1510 1520 1530 1540 1550
VELLDRGQVL HLKNARRNDK GRYQCTVSNA AGKQAKDIKL TIYIPPSIKG
1560 1570 1580 1590 1600
GNVTTDISVL INSLIKLECE TRGLPMPAIT WYKDGQPIMS SSQALYIDKG
1610 1620 1630 1640 1650
QYLHIPRAQV SDSATYTCHV ANVAGTAEKS FHVDVYVPPM IEGNLATPLN
1660 1670 1680 1690 1700
KQVVIAHSLT LECKAAGNPS PILTWLKDGV PVKANDNIRI EAGGKKLEIM
1710 1720 1730 1740 1750
SAQEIDRGQY ICVATSVAGE KEIKYEVDVL VPPAIEGGDE TSYFIVMVNN
1760 1770 1780 1790 1800
LLELDCHVTG SPPPTIMWLK DGQLIDERDG FKILLNGRKL VIAQAQVSNT
1810 1820 1830 1840 1850
GLYRCMAANT AGDHKKEFEV TVHVPPTIKS SGLSERVVVK YKPVALQCIA
1860 1870 1880 1890 1900
NGIPNPSITW LKDDQPVNTA QGNLKIQSSG RVLQIAKTLL EDAGRYTCVA
1910 1920 1930 1940 1950
TNAAGETQQH IQLHVHEPPS LEDAGKMLNE TVLVSNPVQL ECKAAGNPVP
1960 1970 1980 1990 2000
VITWYKDNRL LSGSTSMTFL NRGQIIDIES AQISDAGIYK CVAINSAGAT
2010 2020 2030 2040 2050
ELFYSLQVHV APSISGSNNM VAVVVNNPVR LECEARGIPA PSLTWLKDGS
2060 2070 2080 2090 2100
PVSSFSNGLQ VLSGGRILAL TSAQISDTGR YTCVAVNAAG EKQRDIDLRV
2110 2120 2130 2140 2150
YVPPNIMGEE QNVSVLISQA VELLCQSDAI PPPTLTWLKD GHPLLKKPGL
2160 2170 2180 2190 2200
SISENRSVLK IEDAQVQDTG RYTCEATNVA GKTEKNYNVN IWVPPNIGGS
2210 2220 2230 2240 2250
DELTQLTVIE GNLISLLCES SGIPPPNLIW KKKGSPVLTD SMGRVRILSG
2260 2270 2280 2290 2300
GRQLQISIAE KSDAALYSCV ASNVAGTAKK EYNLQVYIRP TITNSGSHPT
2310 2320 2330 2340 2350
EIIVTRGKSI SLECEVQGIP PPTVTWMKDG HPLIKAKGVE ILDEGHILQL
2360 2370 2380 2390 2400
KNIHVSDTGR YVCVAVNVAG MTDKKYDLSV HAPPSIIGNH RSPENISVVE
2410 2420 2430 2440 2450
KNSVSLTCEA SGIPLPSITW FKDGWPVSLS NSVRILSGGR MLRLMQTTME
2460 2470 2480 2490 2500
DAGQYTCVVR NAAGEERKIF GLSVLVPPHI VGENTLEDVK VKEKQSVTLT
2510 2520 2530 2540 2550
CEVTGNPVPE ITWHKDGQPL QEDEAHHIIS GGRFLQITNV QVPHTGRYTC
2560 2570 2580 2590 2600
LASSPAGHKS RSFSLNVFVS PTIAGVGSDG NPEDVTVILN SPTSLVCEAY
2610 2620 2630 2640 2650
SYPPATITWF KDGTPLESNR NIRILPGGRT LQILNAQEDN AGRYSCVATN
2660 2670 2680 2690 2700
EAGEMIKHYE VKVYIPPIIN KGDLWGPGLS PKEVKIKVNN TLTLECEAYA
2710 2720 2730 2740 2750
IPSASLSWYK DGQPLKSDDH VNIAANGHTL QIKEAQISDT GRYTCVASNI
2760 2770 2780 2790 2800
AGEDELDFDV NIQVPPSFQK LWEIGNMLDT GRNGEAKDVI INNPISLYCE
2810 2820 2830 2840 2850
TNAAPPPTLT WYKDGHPLTS SDKVLILPGG RVLQIPRAKV EDAGRYTCVA
2860 2870 2880 2890 2900
VNEAGEDSLQ YDVRVLVPPI IKGANSDLPE EVTVLVNKSA LIECLSSGSP
2910 2920 2930 2940 2950
APRNSWQKDG QPLLEDDHHK FLSNGRILQI LNTQITDIGR YVCVAENTAG
2960 2970 2980 2990 3000
SAKKYFNLNV HVPPSVIGPK SENLTVVVNN FISLTCEVSG FPPPDLSWLK
3010 3020 3030 3040 3050
NEQPIKLNTN TLIVPGGRTL QIIRAKVSDG GEYTCIAINQ AGESKKKFSL
3060 3070 3080 3090 3100
TVYVPPSIKD HDSESLSVVN VREGTSVSLE CESNAVPPPV ITWYKNGRMI
3110 3120 3130 3140 3150
TESTHVEILA DGQMLHIKKA EVSDTGQYVC RAINVAGRDD KNFHLNVYVP
3160 3170 3180 3190 3200
PSIEGPEREV IVETISNPVT LTCDATGIPP PTIAWLKNHK RIENSDSLEV
3210 3220 3230 3240 3250
RILSGGSKLQ IARSQHSDSG NYTCIASNME GKAQKYYFLS IQVPPSVAGA
3260 3270 3280 3290 3300
EIPSDVSVLL GENVELVCNA NGIPTPLIQW LKDGKPIASG ETERIRVSAN
3310 3320 3330 3340 3350
GSTLNIYGAL TSDTGKYTCV ATNPAGEEDR IFNLNVYVTP TIRGNKDEAE
3360 3370 3380 3390 3400
KLMTLVDTSI NIECRATGTP PPQINWLKNG LPLPLSSHIR LLAAGQVIRI
3410 3420 3430 3440 3450
VRAQVSDVAV YTCVASNRAG VDNKHYNLQV FAPPNMDNSM GTEEITVLKG
3460 3470 3480 3490 3500
SSTSMACITD GTPAPSMAWL RDGQPLGLDA HLTVSTHGMV LQLLKAETED
3510 3520 3530 3540 3550
SGKYTCIASN EAGEVSKHFI LKVLEPPHIN GSEEHEEISV IVNNPLELTC
3560 3570 3580 3590 3600
IASGIPAPKM TWMKDGRPLP QTDQVQTLGG GEVLRISTAQ VEDTGRYTCL
3610 3620 3630 3640 3650
ASSPAGDDDK EYLVRVHVPP NIAGTDEPRD ITVLRNRQVT LECKSDAVPP
3660 3670 3680 3690 3700
PVITWLRNGE RLQATPRVRI LSGGRYLQIN NADLGDTANY TCVASNIAGK
3710 3720 3730 3740 3750
TTREFILTVN VPPNIKGGPQ SLVILLNKST VLECIAEGVP TPRITWRKDG
3760 3770 3780 3790 3800
AVLAGNHARY SILENGFLHI QSAHVTDTGR YLCMATNAAG TDRRRIDLQV
3810 3820 3830 3840 3850
HVPPSIAPGP TNMTVIVNVQ TTLACEATGI PKPSINWRKN GHLLNVDQNQ
3860 3870 3880 3890 3900
NSYRLLSSGS LVIISPSVDD TATYECTVTN GAGDDKRTVD LTVQVPPSIA
3910 3920 3930 3940 3950
DEPTDFLVTK HAPAVITCTA SGVPFPSIHW TKNGIRLLPR GDGYRILSSG
3960 3970 3980 3990 4000
AIEILATQLN HAGRYTCVAR NAAGSAHRHV TLHVHEPPVI QPQPSELHVI
4010 4020 4030 4040 4050
LNNPILLPCE ATGTPSPFIT WQKEGINVNT SGRNHAVLPS GGLQISRAVR
4060 4070 4080 4090 4100
EDAGTYMCVA QNPAGTALGK IKLNVQVPPV ISPHLKEYVI AVDKPITLSC
4110 4120 4130 4140 4150
EADGLPPPDI TWHKDGRAIV ESIRQRVLSS GSLQIAFVQP GDAGHYTCMA
4160 4170 4180 4190 4200
ANVAGSSSTS TKLTVHVPPR IRSTEGHYTV NENSQAILPC VADGIPTPAI
4210 4220 4230 4240 4250
NWKKDNVLLA NLLGKYTAEP YGELILENVV LEDSGFYTCV ANNAAGEDTH
4260 4270 4280 4290 4300
TVSLTVHVLP TFTELPGDVS LNKGEQLRLS CKATGIPLPK LTWTFNNNII
4310 4320 4330 4340 4350
PAHFDSVNGH SELVIERVSK EDSGTYVCTA ENSVGFVKAI GFVYVKEPPV
4360 4370 4380 4390 4400
FKGDYPSNWI EPLGGNAILN CEVKGDPTPT IQWNRKGVDI EISHRIRQLG
4410 4420 4430 4440 4450
NGSLAIYGTV NEDAGDYTCV ATNEAGVVER SMSLTLQSPP IITLEPVETV
4460 4470 4480 4490 4500
INAGGKIILN CQATGEPQPT ITWSRQGHSI SWDDRVNVLS NNSLYIADAQ
4510 4520 4530 4540 4550
KEDTSEFECV ARNLMGSVLV RVPVIVQVHG GFSQWSAWRA CSVTCGKGIQ
4560 4570 4580 4590 4600
KRSRLCNQPL PANGGKPCQG SDLEMRNCQN KPCPVDGSWS EWSLWEECTR
4610 4620 4630 4640 4650
SCGRGNQTRT RTCNNPSVQH GGRPCEGNAV EIIMCNIRPC PVHGAWSAWQ
4660 4670 4680 4690 4700
PWGTCSESCG KGTQTRARLC NNPPPAFGGS YCDGAETQMQ VCNERNCPIH
4710 4720 4730 4740 4750
GKWATWASWS ACSVSCGGGA RQRTRGCSDP VPQYGGRKCE GSDVQSDFCN
4760 4770 4780 4790 4800
SDPCPTHGNW SPWSGWGTCS RTCNGGQMRR YRTCDNPPPS NGGRACGGPD
4810 4820 4830 4840 4850
SQIQRCNTDM CPVDGSWGSW HSWSQCSASC GGGEKTRKRL CDHPVPVKGG
4860 4870 4880 4890 4900
RPCPGDTTQV TRCNVQACPG GPQRARGSVI GNINDVEFGI AFLNATITDS
4910 4920 4930 4940 4950
PNSDTRIIRA KITNVPRSLG SAMRKIVSIL NPIYWTTAKE IGEAVNGFTL
4960 4970 4980 4990 5000
TNAVFKRETQ VEFATGEILQ MSHIARGLDS DGSLLLDIVV SGYVLQLQSP
5010 5020 5030 5040 5050
AEVTVKDYTE DYIQTGPGQL YAYSTRLFTI DGISIPYTWN HTVFYDQAQG
5060 5070 5080 5090 5100
RMPFLVETLH ASSVESDYNQ IEETLGFKIH ASISKGDRSN QCPSGFTLDS
5110 5120 5130 5140 5150
VGPFCADEDE CAAGNPCSHS CHNAMGTYYC SCPKGLTIAA DGRTCQDIDE
5160 5170 5180 5190 5200
CALGRHTCHA GQDCDNTIGS YRCVVRCGSG FRRTSDGLSC QDINECQESS
5210 5220 5230 5240 5250
PCHQRCFNAI GSFHCGCEPG YQLKGRKCMD VNECRQNVCR PDQHCKNTRG
5260 5270 5280 5290 5300
GYKCIDLCPN GMTKAENGTC IDIDECKDGT HQCRYNQICE NTRGSYRCVC
5310 5320 5330 5340 5350
PRGYRSQGVG RPCMDINECE QVPKPCAHQC SNTPGSFKCI CPPGQHLLGD
5360 5370 5380 5390 5400
GKSCAGLERL PNYGTQYSSY NLARFSPVRN NYQPQQHYRQ YSHLYSSYSE
5410 5420 5430 5440 5450
YRNSRTSLSR TRRTIRKTCP EGSEASHDTC VDIDECENTD ACQHECKNTF
5460 5470 5480 5490 5500
GSYQCICPPG YQLTHNGKTC QDIDECLEQN VHCGPNRMCF NMRGSYQCID
5510 5520 5530 5540 5550
TPCPPNYQRD PVSGFCLKNC PPNDLECALS PYALEYKLVS LPFGIATNQD
5560 5570 5580 5590 5600
LIRLVAYTQD GVMHPRTTFL MVDEEQTVPF ALRDENLKGV VYTTRPLREA
5610 5620 5630
ETYRMRVRAS SYSANGTIEY QTTFIVYIAV SAYPY
Length:5,635
Mass (Da):613,390
Last modified:January 10, 2006 - 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:i19AE01E5E2A27E2A
GO
Isoform 2 (identifier: Q96RW7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     5315-5431: Missing.

Show »
Length:5,518
Mass (Da):600,097
Checksum:iD3071680F944D366
GO
Isoform 3 (identifier: Q96RW7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-616: Missing.
     1169-1171: VPP → GES
     1172-5635: Missing.

Note: No experimental confirmation available.
Show »
Length:555
Mass (Da):59,747
Checksum:iAE750AA925574A03
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5TCP6Q5TCP6_HUMAN
Hemicentin-1
HMCN1
240Annotation 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 BAB71154 differs from that shown. Reason: Frameshift at position 657.Curated
The sequence BAB71216 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti35I → F (Ref. 1) Curated1
Sequence conflicti483N → S (Ref. 1) Curated1
Sequence conflicti1042G → E (Ref. 1) Curated1
Sequence conflicti1078Q → L (Ref. 1) Curated1
Sequence conflicti1153T → I in BAB71216 (PubMed:14702039).Curated1
Sequence conflicti1319D → E (Ref. 1) Curated1
Sequence conflicti1368T → S (Ref. 1) Curated1
Sequence conflicti1414K → R in BAB71216 (PubMed:14702039).Curated1
Sequence conflicti1461N → K (Ref. 1) Curated1
Sequence conflicti1570E → K (Ref. 1) Curated1
Sequence conflicti1664K → N (Ref. 1) Curated1
Sequence conflicti1688I → F (Ref. 1) Curated1
Sequence conflicti1775I → V in BAB71216 (PubMed:14702039).Curated1
Sequence conflicti1816K → E in BAB71216 (PubMed:14702039).Curated1
Sequence conflicti1959R → C (Ref. 1) Curated1
Sequence conflicti2073A → T (Ref. 1) Curated1
Sequence conflicti2184E → EK (Ref. 1) Curated1
Sequence conflicti2872K → E (Ref. 1) Curated1
Sequence conflicti3189H → Y (Ref. 1) Curated1
Sequence conflicti3355L → Y (Ref. 1) Curated1
Sequence conflicti4136A → T (Ref. 4) Curated1
Sequence conflicti4340I → T (Ref. 1) Curated1
Sequence conflicti4358N → H (Ref. 4) Curated1
Sequence conflicti4699I → V (Ref. 4) Curated1
Sequence conflicti5294G → S (Ref. 1) Curated1
Sequence conflicti5317N → D (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0498751056T → A. Corresponds to variant dbSNP:rs7539719EnsemblClinVar.1
Natural variantiVAR_0498761184V → F. Corresponds to variant dbSNP:rs12239296EnsemblClinVar.1
Natural variantiVAR_0248111624A → V1 Publication1
Natural variantiVAR_0248122327M → I1 PublicationCorresponds to variant dbSNP:rs12067376EnsemblClinVar.1
Natural variantiVAR_0248132418I → T2 PublicationsCorresponds to variant dbSNP:rs12129650EnsemblClinVar.1
Natural variantiVAR_0248142893E → G1 PublicationCorresponds to variant dbSNP:rs10798035EnsemblClinVar.1
Natural variantiVAR_0248154084H → Y1 PublicationCorresponds to variant dbSNP:rs41317489EnsemblClinVar.1
Natural variantiVAR_0498774437Q → R. Corresponds to variant dbSNP:rs10911825EnsemblClinVar.1
Natural variantiVAR_0248164720A → T1 PublicationCorresponds to variant dbSNP:rs6693069EnsemblClinVar.1
Natural variantiVAR_0248175087D → V1 PublicationCorresponds to variant dbSNP:rs41317507EnsemblClinVar.1
Natural variantiVAR_0248185345Q → R in ARMD1. 1 PublicationCorresponds to variant dbSNP:rs121434382EnsemblClinVar.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_0168711 – 616Missing in isoform 3. 1 PublicationAdd BLAST616
Alternative sequenceiVSP_0168721169 – 1171VPP → GES in isoform 3. 1 Publication3
Alternative sequenceiVSP_0168731172 – 5635Missing in isoform 3. 1 PublicationAdd BLAST4464
Alternative sequenceiVSP_0168745315 – 5431Missing in isoform 2. CuratedAdd BLAST117

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF156100 mRNA Translation: AAK68690.1
AK056336 mRNA Translation: BAB71154.1 Sequence problems.
AK056557 mRNA Translation: BAB71216.1 Different initiation.
AL118512 Genomic DNA No translation available.
AL121996 Genomic DNA No translation available.
AL133515 Genomic DNA No translation available.
AL133553 Genomic DNA No translation available.
AL135796 Genomic DNA No translation available.
AL135797 Genomic DNA No translation available.
AL391824 Genomic DNA No translation available.
BX928748 Genomic DNA No translation available.
AJ306906 mRNA Translation: CAC37630.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30956.1 [Q96RW7-1]

NCBI Reference Sequences

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RefSeqi
NP_114141.2, NM_031935.2 [Q96RW7-1]
XP_011508340.1, XM_011510038.2 [Q96RW7-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000271588; ENSP00000271588; ENSG00000143341 [Q96RW7-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
83872

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:83872

UCSC genome browser

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UCSCi
uc001grq.2 human [Q96RW7-1]

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
AF156100 mRNA Translation: AAK68690.1
AK056336 mRNA Translation: BAB71154.1 Sequence problems.
AK056557 mRNA Translation: BAB71216.1 Different initiation.
AL118512 Genomic DNA No translation available.
AL121996 Genomic DNA No translation available.
AL133515 Genomic DNA No translation available.
AL133553 Genomic DNA No translation available.
AL135796 Genomic DNA No translation available.
AL135797 Genomic DNA No translation available.
AL391824 Genomic DNA No translation available.
BX928748 Genomic DNA No translation available.
AJ306906 mRNA Translation: CAC37630.1
CCDSiCCDS30956.1 [Q96RW7-1]
RefSeqiNP_114141.2, NM_031935.2 [Q96RW7-1]
XP_011508340.1, XM_011510038.2 [Q96RW7-2]

3D structure databases

SMRiQ96RW7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123785, 5 interactors
IntActiQ96RW7, 8 interactors
STRINGi9606.ENSP00000271588

PTM databases

CarbonylDBiQ96RW7
GlyConnecti1306
iPTMnetiQ96RW7
PhosphoSitePlusiQ96RW7

Polymorphism and mutation databases

BioMutaiHMCN1
DMDMi85542049

Proteomic databases

EPDiQ96RW7
jPOSTiQ96RW7
MaxQBiQ96RW7
PaxDbiQ96RW7
PeptideAtlasiQ96RW7
PRIDEiQ96RW7
ProteomicsDBi78045
78046 [Q96RW7-2]
78047 [Q96RW7-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000271588; ENSP00000271588; ENSG00000143341 [Q96RW7-1]
GeneIDi83872
KEGGihsa:83872
UCSCiuc001grq.2 human [Q96RW7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
83872
DisGeNETi83872

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HMCN1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0001425
HGNCiHGNC:19194 HMCN1
HPAiHPA051677
MalaCardsiHMCN1
MIMi603075 phenotype
608548 gene
neXtProtiNX_Q96RW7
OpenTargetsiENSG00000143341
Orphaneti279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA142671679

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4475 Eukaryota
ENOG410ZN3C LUCA
GeneTreeiENSGT00940000154614
HOGENOMiHOG000231553
InParanoidiQ96RW7
KOiK17341
OMAiMIEIRNP
OrthoDBi38313at2759
PhylomeDBiQ96RW7

Miscellaneous databases

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

More...
ChiTaRSi
HMCN1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
HMCN1

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

More...
GenomeRNAii
83872

Protein Ontology

More...
PROi
PR:Q96RW7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143341 Expressed in 157 organ(s), highest expression level in thoracic aorta
ExpressionAtlasiQ96RW7 baseline and differential
GenevisibleiQ96RW7 HS

Family and domain databases

CDDicd00255 nidG2, 1 hit
Gene3Di2.20.100.10, 5 hits
2.60.40.10, 44 hits
3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR026823 cEGF
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
IPR006605 G2_nidogen/fibulin_G2F
IPR009017 GFP
IPR009030 Growth_fac_rcpt_cys_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR013106 Ig_V-set
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF12662 cEGF, 1 hit
PF07645 EGF_CA, 6 hits
PF07474 G2F, 1 hit
PF07679 I-set, 33 hits
PF00090 TSP_1, 6 hits
SMARTiView protein in SMART
SM00181 EGF, 8 hits
SM00179 EGF_CA, 8 hits
SM00682 G2F, 1 hit
SM00409 IG, 44 hits
SM00408 IGc2, 44 hits
SM00406 IGv, 15 hits
SM00209 TSP1, 6 hits
SUPFAMiSSF48726 SSF48726, 44 hits
SSF53300 SSF53300, 1 hit
SSF54511 SSF54511, 1 hit
SSF57184 SSF57184, 3 hits
SSF82895 SSF82895, 6 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 5 hits
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 8 hits
PS50835 IG_LIKE, 44 hits
PS50993 NIDOGEN_G2, 1 hit
PS50092 TSP1, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiHMCN1_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: Q96RW7
Secondary accession number(s): A6NGE3
, Q5TYR7, Q96DN3, Q96DN8, Q96SC3
<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: January 10, 2006
Last sequence update: January 10, 2006
Last modified: June 5, 2019
This is version 155 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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