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Entry version 149 (16 Oct 2019)
Sequence version 3 (26 Feb 2008)
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Protein

Kinase D-interacting substrate of 220 kDa

Gene

KIDINS220

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 a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in neurotrophin- and ephrin-mediated neuronal outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway.By similarity1 Publication

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-170984 ARMS-mediated activation

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

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SignaLinki
Q9ULH0

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9ULH0

<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:
Kinase D-interacting substrate of 220 kDa
Alternative name(s):
Ankyrin repeat-rich membrane-spanning protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KIDINS220
Synonyms:ARMS, KIAA1250
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29508 KIDINS220

Online Mendelian Inheritance in Man (OMIM)

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MIMi
615759 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9ULH0

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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 499CytoplasmicSequence analysisAdd BLAST499
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei500 – 520HelicalSequence analysisAdd BLAST21
Topological domaini521 – 524ExtracellularSequence analysis4
Transmembranei525 – 545HelicalSequence analysisAdd BLAST21
Topological domaini546 – 659CytoplasmicSequence analysisAdd BLAST114
Transmembranei660 – 680HelicalSequence analysisAdd BLAST21
Topological domaini681 – 685ExtracellularSequence analysis5
Transmembranei686 – 706HelicalSequence analysisAdd BLAST21
Topological domaini707 – 1771CytoplasmicSequence analysisAdd BLAST1065

Keywords - Cellular componenti

Endosome, 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

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by rapid growth in infancy, obesity, global developmental delay, intellectual disability, spastic paraplegia, ocular defects, and dysmorphic facial features.
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_0779951350 – 1771Missing in SINO; no effect on protein abundance. 1 PublicationAdd BLAST422
Natural variantiVAR_0779961366 – 1771Missing in SINO; no effect on protein abundance; no effect on subcellular localization. 1 PublicationAdd BLAST406

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Mental retardation, Neurodegeneration, Obesity

Organism-specific databases

DisGeNET

More...
DisGeNETi
57498

MalaCards human disease database

More...
MalaCardsi
KIDINS220
MIMi617296 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000134313

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

More...
Orphaneti
521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164721911

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9ULH0

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KIDINS220

Domain mapping of disease mutations (DMDM)

More...
DMDMi
172044825

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003221191 – 1771Kinase D-interacting substrate of 220 kDaAdd BLAST1771

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 residuei882PhosphoserineCombined sources1
Modified residuei885PhosphoserineCombined sources1
Modified residuei914PhosphothreonineCombined sources1
Modified residuei918PhosphoserineCombined sources1
Modified residuei1163PhosphoserineCombined sources1
Modified residuei1296PhosphoserineCombined sources1
Modified residuei1352PhosphoserineCombined sources1
Modified residuei1359PhosphoserineCombined sources1
Modified residuei1361PhosphoserineCombined sources1
Modified residuei1362PhosphoserineCombined sources1
Modified residuei1365PhosphoserineCombined sources1
Modified residuei1521PhosphoserineCombined sources1
Modified residuei1526PhosphoserineCombined sources1
Modified residuei1555PhosphoserineCombined sources1
Modified residuei1574PhosphoserineCombined sources1
Modified residuei1623PhosphoserineCombined sources1
Modified residuei1633PhosphoserineCombined sources1
Modified residuei1679PhosphothreonineCombined sources1
Modified residuei1681PhosphoserineCombined sources1
Modified residuei1684PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Tyrosine phosphorylated by NTRK1, NTRK2, EPHB2 and EPHA4. Phosphorylation at Ser-918 is induced by phorbol ester treatment. Phosphorylation by NTRK2 is induced by brain-derived neurotrophic factor (BDNF) and neurotrophin-4/5. Phosphorylation by NTRK1 is induced by nerve growth factor (NGF) (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9ULH0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9ULH0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9ULH0

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

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PaxDbi
Q9ULH0

PeptideAtlas

More...
PeptideAtlasi
Q9ULH0

PRoteomics IDEntifications database

More...
PRIDEi
Q9ULH0

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
85020 [Q9ULH0-1]
85021 [Q9ULH0-2]
85022 [Q9ULH0-3]
85023 [Q9ULH0-4]
85024 [Q9ULH0-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9ULH0

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

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PhosphoSitePlusi
Q9ULH0

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q9ULH0

<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

Abundant in developing and adult neural tissues as well as neuroendocrine cells and dendritic cells. Overexpressed in melanoma and melanoma cell lines.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000134313 Expressed in 235 organ(s), highest expression level in neocortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9ULH0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9ULH0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA014790

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

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

Found in a complex, at least composed of KIDINS220, MAGI2, NTRK1 and RAPGEF2; the complex is mainly formed at late endosomes in a nerve growth factor (NGF)-dependent manner.

Interacts with RAPGEF2; the interaction is strengthened after NGF stimulation. Isoform 2 interacts (via C-terminal domain) with MAGI2 isoform 1 (via PDZ domain).

Interacts with NTRK1, NTRK2, NTRK3, ERKL and NGFR. Can form a ternary complex with NGFR and NTRK1 and this complex is affected by the expression levels of KIDINS220/ARMS. An increase in KIDINS220/ARMS expression leads to a decreased association of NGFR and NTRK1.

Interacts (via PDZ-binding motif) with SNTA1 and SNTB2 (via PDZ domains).

Interacts with EPHA4 and PRKD1.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121565, 75 interactors

Protein interaction database and analysis system

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IntActi
Q9ULH0, 67 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000256707

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

3D structure databases

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

More...
SMRi
Q9ULH0

Database of comparative protein structure models

More...
ModBasei
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘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>Repeati4 – 33ANK 1Add BLAST30
Repeati37 – 66ANK 2Add BLAST30
Repeati70 – 99ANK 3Add BLAST30
Repeati103 – 132ANK 4Add BLAST30
Repeati136 – 165ANK 5Add BLAST30
Repeati169 – 198ANK 6Add BLAST30
Repeati202 – 231ANK 7Add BLAST30
Repeati235 – 264ANK 8Add BLAST30
Repeati268 – 297ANK 9Add BLAST30
Repeati301 – 330ANK 10Add BLAST30
Repeati334 – 363ANK 11Add BLAST30
Repeati367 – 396ANK 12Add BLAST30
<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>Domaini440 – 953KAP NTPaseAdd BLAST514

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1089 – 1092Mediates interaction with CRKLBy similarity4

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1766 – 1771PDZ-bindingBy similarity6

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The transmembrane domain mediates interaction with NTRK1.By similarity

Keywords - Domaini

ANK repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0502 Eukaryota
COG0666 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156714

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9ULH0

KEGG Orthology (KO)

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KOi
K12460

Identification of Orthologs from Complete Genome Data

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OMAi
VRMSICS

Database of Orthologous Groups

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OrthoDBi
58543at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9ULH0

TreeFam database of animal gene trees

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TreeFami
TF344032

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.150.50, 1 hit
1.25.40.20, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR011646 KAP_P-loop
IPR013761 SAM/pointed_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796 Ank_2, 3 hits
PF07693 KAP_NTPase, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01415 ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00248 ANK, 11 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 10 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 (5+)i

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

This entry describes 5 <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 5 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9ULH0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSVLISQSVI NYVEEENIPA LKALLEKCKD VDERNECGQT PLMIAAEQGN
60 70 80 90 100
LEIVKELIKN GANCNLEDLD NWTALISASK EGHVHIVEEL LKCGVNLEHR
110 120 130 140 150
DMGGWTALMW ACYKGRTDVV ELLLSHGANP SVTGLYSVYP IIWAAGRGHA
160 170 180 190 200
DIVHLLLQNG AKVNCSDKYG TTPLVWAARK GHLECVKHLL AMGADVDQEG
210 220 230 240 250
ANSMTALIVA VKGGYTQSVK EILKRNPNVN LTDKDGNTAL MIASKEGHTE
260 270 280 290 300
IVQDLLDAGT YVNIPDRSGD TVLIGAVRGG HVEIVRALLQ KYADIDIRGQ
310 320 330 340 350
DNKTALYWAV EKGNATMVRD ILQCNPDTEI CTKDGETPLI KATKMRNIEV
360 370 380 390 400
VELLLDKGAK VSAVDKKGDT PLHIAIRGRS RKLAELLLRN PKDGRLLYRP
410 420 430 440 450
NKAGETPYNI DCSHQKSILT QIFGARHLSP TETDGDMLGY DLYSSALADI
460 470 480 490 500
LSEPTMQPPI CVGLYAQWGS GKSFLLKKLE DEMKTFAGQQ IEPLFQFSWL
510 520 530 540 550
IVFLTLLLCG GLGLLFAFTV HPNLGIAVSL SFLALLYIFF IVIYFGGRRE
560 570 580 590 600
GESWNWAWVL STRLARHIGY LELLLKLMFV NPPELPEQTT KALPVRFLFT
610 620 630 640 650
DYNRLSSVGG ETSLAEMIAT LSDACEREFG FLATRLFRVF KTEDTQGKKK
660 670 680 690 700
WKKTCCLPSF VIFLFIIGCI ISGITLLAIF RVDPKHLTVN AVLISIASVV
710 720 730 740 750
GLAFVLNCRT WWQVLDSLLN SQRKRLHNAA SKLHKLKSEG FMKVLKCEVE
760 770 780 790 800
LMARMAKTID SFTQNQTRLV VIIDGLDACE QDKVLQMLDT VRVLFSKGPF
810 820 830 840 850
IAIFASDPHI IIKAINQNLN SVLRDSNING HDYMRNIVHL PVFLNSRGLS
860 870 880 890 900
NARKFLVTSA TNGDVPCSDT TGIQEDADRR VSQNSLGEMT KLGSKTALNR
910 920 930 940 950
RDTYRRRQMQ RTITRQMSFD LTKLLVTEDW FSDISPQTMR RLLNIVSVTG
960 970 980 990 1000
RLLRANQISF NWDRLASWIN LTEQWPYRTS WLILYLEETE GIPDQMTLKT
1010 1020 1030 1040 1050
IYERISKNIP TTKDVEPLLE IDGDIRNFEV FLSSRTPVLV ARDVKVFLPC
1060 1070 1080 1090 1100
TVNLDPKLRE IIADVRAARE QISIGGLAYP PLPLHEGPPR APSGYSQPPS
1110 1120 1130 1140 1150
VCSSTSFNGP FAGGVVSPQP HSSYYSGMTG PQHPFYNRPF FAPYLYTPRY
1160 1170 1180 1190 1200
YPGGSQHLIS RPSVKTSLPR DQNNGLEVIK EDAAEGLSSP TDSSRGSGPA
1210 1220 1230 1240 1250
PGPVVLLNSL NVDAVCEKLK QIEGLDQSML PQYCTTIKKA NINGRVLAQC
1260 1270 1280 1290 1300
NIDELKKEMN MNFGDWHLFR STVLEMRNAE SHVVPEDPRF LSESSSGPAP
1310 1320 1330 1340 1350
HGEPARRASH NELPHTELSS QTPYTLNFSF EELNTLGLDE GAPRHSNLSW
1360 1370 1380 1390 1400
QSQTRRTPSL SSLNSQDSSI EISKLTDKVQ AEYRDAYREY IAQMSQLEGG
1410 1420 1430 1440 1450
PGSTTISGRS SPHSTYYMGQ SSSGGSIHSN LEQEKGKDSE PKPDDGRKSF
1460 1470 1480 1490 1500
LMKRGDVIDY SSSGVSTNDA SPLDPITEED EKSDQSGSKL LPGKKSSERS
1510 1520 1530 1540 1550
SLFQTDLKLK GSGLRYQKLP SDEDESGTEE SDNTPLLKDD KDRKAEGKVE
1560 1570 1580 1590 1600
RVPKSPEHSA EPIRTFIKAK EYLSDALLDK KDSSDSGVRS SESSPNHSLH
1610 1620 1630 1640 1650
NEVADDSQLE KANLIELEDD SHSGKRGIPH SLSGLQDPII ARMSICSEDK
1660 1670 1680 1690 1700
KSPSECSLIA SSPEENWPAC QKAYNLNRTP STVTLNNNSA PANRANQNFD
1710 1720 1730 1740 1750
EMEGIRETSQ VILRPSSSPN PTTIQNENLK SMTHKRSQRS SYTRLSKDPP
1760 1770
ELHAAASSES TGFGEERESI L
Length:1,771
Mass (Da):196,542
Last modified:February 26, 2008 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iFD1F99DB88B6996D
GO
Isoform 2 (identifier: Q9ULH0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: Missing.
     1138-1194: Missing.

Show »
Length:1,672
Mass (Da):185,546
Checksum:i103CE2C56521F5A8
GO
Isoform 3 (identifier: Q9ULH0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     135-135: L → LQ
     1005-1030: ISKNIPTTKDVEPLLEIDGDIRNFEV → CCGADSCDRDRIGISKSVLVAMLMES
     1031-1771: Missing.

Show »
Length:1,031
Mass (Da):115,312
Checksum:iD9E866461C13A2F5
GO
Isoform 4 (identifier: Q9ULH0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1177-1195: Missing.

Show »
Length:1,752
Mass (Da):194,569
Checksum:iC8FBB42BE1147C90
GO
Isoform 5 (identifier: Q9ULH0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1228: Missing.

Show »
Length:543
Mass (Da):59,967
Checksum:iB4A46C01CC4C1F37
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PH70E9PH70_HUMAN
Kinase D-interacting substrate of 2...
KIDINS220
1,305Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8E4H0Y8E4_HUMAN
Kinase D-interacting substrate of 2...
KIDINS220
1,057Annotation 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>
A0A1W2PPB7A0A1W2PPB7_HUMAN
Kinase D-interacting substrate of 2...
KIDINS220
1,316Annotation 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>
A0A1W2PPY4A0A1W2PPY4_HUMAN
Kinase D-interacting substrate of 2...
KIDINS220
269Annotation 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>
H7C584H7C584_HUMAN
Kinase D-interacting substrate of 2...
KIDINS220
151Annotation 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>
F8WAY8F8WAY8_HUMAN
Kinase D-interacting substrate of 2...
KIDINS220
36Annotation 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 BAA86564 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14728 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 conflicti1335T → P in CAE45935 (PubMed:17974005).Curated1
Sequence conflicti1613N → D in BAB14285 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048285538I → T. Corresponds to variant dbSNP:rs2289229Ensembl.1
Natural variantiVAR_0393991307R → H. Corresponds to variant dbSNP:rs2304591Ensembl.1
Natural variantiVAR_0779951350 – 1771Missing in SINO; no effect on protein abundance. 1 PublicationAdd BLAST422
Natural variantiVAR_0779961366 – 1771Missing in SINO; no effect on protein abundance; no effect on subcellular localization. 1 PublicationAdd BLAST406
Natural variantiVAR_0394001608Q → H3 PublicationsCorresponds to variant dbSNP:rs1044280Ensembl.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_0318611 – 1228Missing in isoform 5. 1 PublicationAdd BLAST1228
Alternative sequenceiVSP_0318621 – 42Missing in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_031863135L → LQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_0318641005 – 1030ISKNI…RNFEV → CCGADSCDRDRIGISKSVLV AMLMES in isoform 3. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_0318651031 – 1771Missing in isoform 3. 1 PublicationAdd BLAST741
Alternative sequenceiVSP_0318661138 – 1194Missing in isoform 2. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_0318671177 – 1195Missing in isoform 4. 1 PublicationAdd BLAST19

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
AB033076 mRNA Translation: BAA86564.2 Different initiation.
AK022873 mRNA Translation: BAB14285.1
AK023926 mRNA Translation: BAB14728.1 Different initiation.
AL133620 mRNA Translation: CAB63746.1
AL137553 mRNA Translation: CAB70807.1
BX640878 mRNA Translation: CAE45935.1
BC094714 mRNA Translation: AAH94714.1
BC130610 mRNA Translation: AAI30611.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42650.1 [Q9ULH0-1]
CCDS86818.1 [Q9ULH0-4]
CCDS86819.1 [Q9ULH0-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
T43458

NCBI Reference Sequences

More...
RefSeqi
NP_065789.1, NM_020738.2 [Q9ULH0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000256707; ENSP00000256707; ENSG00000134313 [Q9ULH0-1]
ENST00000319688; ENSP00000319947; ENSG00000134313 [Q9ULH0-3]
ENST00000473731; ENSP00000418974; ENSG00000134313 [Q9ULH0-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57498

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57498

UCSC genome browser

More...
UCSCi
uc002qzc.2 human [Q9ULH0-1]

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
AB033076 mRNA Translation: BAA86564.2 Different initiation.
AK022873 mRNA Translation: BAB14285.1
AK023926 mRNA Translation: BAB14728.1 Different initiation.
AL133620 mRNA Translation: CAB63746.1
AL137553 mRNA Translation: CAB70807.1
BX640878 mRNA Translation: CAE45935.1
BC094714 mRNA Translation: AAH94714.1
BC130610 mRNA Translation: AAI30611.1
CCDSiCCDS42650.1 [Q9ULH0-1]
CCDS86818.1 [Q9ULH0-4]
CCDS86819.1 [Q9ULH0-3]
PIRiT43458
RefSeqiNP_065789.1, NM_020738.2 [Q9ULH0-1]

3D structure databases

SMRiQ9ULH0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121565, 75 interactors
IntActiQ9ULH0, 67 interactors
STRINGi9606.ENSP00000256707

PTM databases

iPTMnetiQ9ULH0
PhosphoSitePlusiQ9ULH0
SwissPalmiQ9ULH0

Polymorphism and mutation databases

BioMutaiKIDINS220
DMDMi172044825

Proteomic databases

EPDiQ9ULH0
jPOSTiQ9ULH0
MassIVEiQ9ULH0
PaxDbiQ9ULH0
PeptideAtlasiQ9ULH0
PRIDEiQ9ULH0
ProteomicsDBi85020 [Q9ULH0-1]
85021 [Q9ULH0-2]
85022 [Q9ULH0-3]
85023 [Q9ULH0-4]
85024 [Q9ULH0-5]

Genome annotation databases

EnsembliENST00000256707; ENSP00000256707; ENSG00000134313 [Q9ULH0-1]
ENST00000319688; ENSP00000319947; ENSG00000134313 [Q9ULH0-3]
ENST00000473731; ENSP00000418974; ENSG00000134313 [Q9ULH0-4]
GeneIDi57498
KEGGihsa:57498
UCSCiuc002qzc.2 human [Q9ULH0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57498
DisGeNETi57498

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KIDINS220
HGNCiHGNC:29508 KIDINS220
HPAiHPA014790
MalaCardsiKIDINS220
MIMi615759 gene
617296 phenotype
neXtProtiNX_Q9ULH0
OpenTargetsiENSG00000134313
Orphaneti521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
PharmGKBiPA164721911

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0502 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000156714
InParanoidiQ9ULH0
KOiK12460
OMAiVRMSICS
OrthoDBi58543at2759
PhylomeDBiQ9ULH0
TreeFamiTF344032

Enzyme and pathway databases

ReactomeiR-HSA-170984 ARMS-mediated activation
SignaLinkiQ9ULH0
SIGNORiQ9ULH0

Miscellaneous databases

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

More...
ChiTaRSi
KIDINS220 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
KIDINS220

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

More...
GenomeRNAii
57498
PharosiQ9ULH0

Protein Ontology

More...
PROi
PR:Q9ULH0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000134313 Expressed in 235 organ(s), highest expression level in neocortex
ExpressionAtlasiQ9ULH0 baseline and differential
GenevisibleiQ9ULH0 HS

Family and domain databases

Gene3Di1.10.150.50, 1 hit
1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR011646 KAP_P-loop
IPR013761 SAM/pointed_sf
PfamiView protein in Pfam
PF12796 Ank_2, 3 hits
PF07693 KAP_NTPase, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 11 hits
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 10 hits

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 nameiKDIS_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: Q9ULH0
Secondary accession number(s): A1L4N4
, Q4VC08, Q6MZU2, Q9H889, Q9H9E4, Q9NT37, Q9UF42
<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: February 26, 2008
Last sequence update: February 26, 2008
Last modified: October 16, 2019
This is version 149 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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