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UniProtKB - Q7Z3E5 (ARMC9_HUMAN)

Entry version 139 (02 Dec 2020)
Sequence version 3 (28 Mar 2018)
Previous versions | rss
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Protein

LisH domain-containing protein ARMC9

Gene

ARMC9

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

Acts as a positive regulator of hedgehog (Hh)signaling (By similarity). Involved in ciliogenesis (By similarity). May participate in the trafficking and/or retention of GLI2 and GLI3 proteins at the ciliary tip (By similarity).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 - Biological processi

Complete GO annotation on QuickGO ...

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

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q7Z3E5

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
LisH domain-containing protein ARMC9
Alternative name(s):
Armadillo repeat-containing protein 9
Melanoma/melanocyte-specific tumor antigen KU-MEL-1
NS21
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ARMC9Imported
Synonyms:KIAA1868
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000135931.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:20730, ARMC9

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617612, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7Z3E5

<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

Cell projection, Cytoplasm, Cytoskeleton

<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

Joubert syndrome 30 (JBTS30)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal recessive.
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_08049769G → R in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750247691EnsemblClinVar.1
Natural variantiVAR_08049887Missing in JBTS30; unknown pathological significance. 1 Publication1
Natural variantiVAR_080499343R → C in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs759799287EnsemblClinVar.1
Natural variantiVAR_080500446R → C in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753432312EnsemblClinVar.1
Natural variantiVAR_080501492G → R in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780265931EnsemblClinVar.1
Natural variantiVAR_080502520P → L in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167449EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Joubert syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		80210

MalaCards human disease database

More...MalaCardsi		ARMC9
MIMi617622, phenotype

Open Targets

More...OpenTargetsi		ENSG00000135931

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

More...Orphaneti		475, Joubert syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672581

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7Z3E5, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ARMC9

Domain mapping of disease mutations (DMDM)

More...DMDMi		134035387

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002805951 – 818LisH domain-containing protein ARMC9Add BLAST818

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 residuei582PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q7Z3E5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7Z3E5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7Z3E5

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

More...PaxDbi		Q7Z3E5

PeptideAtlas

More...PeptideAtlasi		Q7Z3E5

PRoteomics IDEntifications database

More...PRIDEi		Q7Z3E5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		69042 [Q7Z3E5-1]
69043 [Q7Z3E5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7Z3E5

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

More...PhosphoSitePlusi		Q7Z3E5

<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

Strongly expressed in most melanomas and melanocytes. Weakly expressed in the testis.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated in response to serum starvation in fibroblasts.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000135931, Expressed in pigmented layer of retina and 210 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7Z3E5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7Z3E5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000135931, Tissue enhanced (retina)

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123179, 10 interactors

Protein interaction database and analysis system

More...IntActi		Q7Z3E5, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000484804

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7Z3E5, protein

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

3D structure databases

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

More...SMRi		Q7Z3E5

Database of comparative protein structure models

More...ModBasei		Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini7 – 39LisHPROSITE-ProRule annotationAdd BLAST33

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili204 – 230Sequence analysisAdd BLAST27

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi708 – 711Poly-Ser4

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QQ9W, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018026

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_007962_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7Z3E5

Identification of Orthologs from Complete Genome Data

More...OMAi		FMNLCLR

Database of Orthologous Groups

More...OrthoDBi		1327587at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7Z3E5

TreeFam database of animal gene trees

More...TreeFami		TF317676

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR040369, ARMC9
IPR006594, LisH

The PANTHER Classification System

More...PANTHERi		PTHR14881, PTHR14881, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00667, LisH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50896, LISH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z3E5-1) [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
MGDILAHESE LLGLVKEYLD FAEFEDTLKT FSKECKIKGK PLCKTVGGSF 
        60         70         80         90        100
RDSKSLTIQK DLVAAFDNGD QKVFFDLWEE HISSSIRDGD SFAQKLEFYL 
       110        120        130        140        150
HIHFAIYLLK YSVGRPDKEE LDEKISYFKT YLETKGAALS QTTEFLPFYA 
       160        170        180        190        200
LPFVPNPMVH PSFKELFQDS WTPELKLKLI KFLALISKAS NTPKLLTIYK 
       210        220        230        240        250
ENGQSNKEIL QQLHQQLVEA ERRSVTYLKR YNKIQADYHN LIGVTAELVD 
       260        270        280        290        300
SLEATVSGKM ITPEYLQSVC VRLFSNQMRQ SLAHSVDFTR PGTASTMLRA 
       310        320        330        340        350
SLAPVKLKDV PLLPSLDYEK LKKDLILGSD RLKAFLLQAL RWRLTTSHPG 
       360        370        380        390        400
EQRETVLQAY ISNDLLDCYS HNQRSVLQLL HSTSDVVRQY MARLINAFAS 
       410        420        430        440        450
LAEGRLYLAQ NTKVLQMLEG RLKEEDKDII TRENVLGALQ KFSLRRPLQT 
       460        470        480        490        500
AMIQDGLIFW LVDVLKDPDC LSDYTLEYSV ALLMNLCLRS TGKNMCAKVA 
       510        520        530        540        550
GLVLKVLSDL LGHENHEIQP YVNGALYSIL SVPSIREEAR AMGMEDILRC 
       560        570        580        590        600
FIKEGNAEMI RQIEFIIKQL NSEELPDGVL ESDDDEDEDD EEDHDIMEAD 
       610        620        630        640        650
LDKDELIQPQ LGELSGEKLL TTEYLGIMTN TGKTRRKGLA NVQWSGDEPL 
       660        670        680        690        700
QRPVTPGGHR NGYPVVEDQH TPPQTAQHAR NGHPQALPAA HEAVYREGKP 
       710        720        730        740        750
STPESCVSSS SAIIAKPGEW LPRGRQEEPR PAPTGTPRQP REAPQDPGNG 
       760        770        780        790        800
VTTRECASAF TCKPRAPCTP EMLDWNPPKA KASVLAPLFS SCGPQQASRP 
       810 
GSTASSTRGL PSSQSHRK
Length:818
Mass (Da):91,819
Last modified:March 28, 2018 - 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:iDBF4284F71E9C746
GO
Isoform 2 (identifier: Q7Z3E5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     666-817: Missing.

Show »
Length:666
Mass (Da):75,707
Checksum:i71AB59EB1CE6E2CE
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
A0A2Q3DP09A0A2Q3DP09_HUMAN
LisH domain-containing protein ARMC...
ARMC9
665Annotation 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>
H7BZY2H7BZY2_HUMAN
LisH domain-containing protein ARMC...
ARMC9
208Annotation 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>
H7BZA2H7BZA2_HUMAN
LisH domain-containing protein ARMC...
ARMC9
172Annotation 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>
C9JW07C9JW07_HUMAN
LisH domain-containing protein ARMC...
ARMC9
166Annotation 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>
C9J535C9J535_HUMAN
LisH domain-containing protein ARMC...
ARMC9
158Annotation 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>
H7C2P6H7C2P6_HUMAN
LisH domain-containing protein ARMC...
ARMC9
73Annotation 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 BAB14153 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti180I → E in AAX22760 (PubMed:11691810).Curated1
Sequence conflicti180I → E in AAO63554 (Ref. 2) Curated1
Sequence conflicti180I → E in CAD97923 (PubMed:17974005).Curated1
Sequence conflicti180I → E in AAH04514 (PubMed:15489334).Curated1
Sequence conflicti180I → E in AAH65271 (PubMed:15489334).Curated1
Sequence conflicti180I → E in BAB14153 (PubMed:14702039).Curated1
Sequence conflicti436L → P in AAO63554 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08049769G → R in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750247691EnsemblClinVar.1
Natural variantiVAR_08049887Missing in JBTS30; unknown pathological significance. 1 Publication1
Natural variantiVAR_031170108L → F1 PublicationCorresponds to variant dbSNP:rs11558175Ensembl.1
Natural variantiVAR_056739180I → V. Corresponds to variant dbSNP:rs1626450EnsemblClinVar.1
Natural variantiVAR_031171209I → T. Corresponds to variant dbSNP:rs16827883EnsemblClinVar.1
Natural variantiVAR_031172222R → H. Corresponds to variant dbSNP:rs3752780EnsemblClinVar.1
Natural variantiVAR_069411330D → N1 Publication1
Natural variantiVAR_080499343R → C in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs759799287EnsemblClinVar.1
Natural variantiVAR_080500446R → C in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753432312EnsemblClinVar.1
Natural variantiVAR_080501492G → R in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780265931EnsemblClinVar.1
Natural variantiVAR_080502520P → L in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167449EnsemblClinVar.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_023804666 – 817Missing in isoform 2. 5 PublicationsAdd BLAST152

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
AY929062 mRNA Translation: AAX22760.1
AY219922 mRNA Translation: AAO63554.1
BX537956 mRNA Translation: CAD97923.1
AC009407 Genomic DNA Translation: AAX93129.1
AC018738 Genomic DNA No translation available.
KF510794 Genomic DNA No translation available.
KF510790 Genomic DNA No translation available.
KF510793 Genomic DNA No translation available.
BC004514 mRNA Translation: AAH04514.2
BC065271 mRNA Translation: AAH65271.1
AK022646 mRNA Translation: BAB14153.1 Different initiation.
AB058771 mRNA Translation: BAB47497.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS74666.1 [Q7Z3E5-1]

NCBI Reference Sequences

More...RefSeqi		NP_001278585.1, NM_001291656.1
NP_079415.3, NM_025139.5
XP_011510213.1, XM_011511911.1
XP_016860512.1, XM_017005023.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000611582; ENSP00000484804; ENSG00000135931 [Q7Z3E5-1]
ENST00000614261; ENSP00000484241; ENSG00000135931 [Q7Z3E5-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80210

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80210

UCSC genome browser

More...UCSCi		uc002vrq.6, human [Q7Z3E5-1]
uc032ovg.1, human

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
AY929062 mRNA Translation: AAX22760.1
AY219922 mRNA Translation: AAO63554.1
BX537956 mRNA Translation: CAD97923.1
AC009407 Genomic DNA Translation: AAX93129.1
AC018738 Genomic DNA No translation available.
KF510794 Genomic DNA No translation available.
KF510790 Genomic DNA No translation available.
KF510793 Genomic DNA No translation available.
BC004514 mRNA Translation: AAH04514.2
BC065271 mRNA Translation: AAH65271.1
AK022646 mRNA Translation: BAB14153.1 Different initiation.
AB058771 mRNA Translation: BAB47497.1
CCDSiCCDS74666.1 [Q7Z3E5-1]
RefSeqiNP_001278585.1, NM_001291656.1
NP_079415.3, NM_025139.5
XP_011510213.1, XM_011511911.1
XP_016860512.1, XM_017005023.1

3D structure databases

SMRiQ7Z3E5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123179, 10 interactors
IntActiQ7Z3E5, 4 interactors
STRINGi9606.ENSP00000484804

PTM databases

iPTMnetiQ7Z3E5
PhosphoSitePlusiQ7Z3E5

Polymorphism and mutation databases

BioMutaiARMC9
DMDMi134035387

Proteomic databases

EPDiQ7Z3E5
jPOSTiQ7Z3E5
MassIVEiQ7Z3E5
PaxDbiQ7Z3E5
PeptideAtlasiQ7Z3E5
PRIDEiQ7Z3E5
ProteomicsDBi69042 [Q7Z3E5-1]
69043 [Q7Z3E5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		20202, 103 antibodies

The DNASU plasmid repository

More...DNASUi		80210

Genome annotation databases

EnsembliENST00000611582; ENSP00000484804; ENSG00000135931 [Q7Z3E5-1]
ENST00000614261; ENSP00000484241; ENSG00000135931 [Q7Z3E5-1]
GeneIDi80210
KEGGihsa:80210
UCSCiuc002vrq.6, human [Q7Z3E5-1]
uc032ovg.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80210
DisGeNETi80210
EuPathDBiHostDB:ENSG00000135931.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		ARMC9
HGNCiHGNC:20730, ARMC9
HPAiENSG00000135931, Tissue enhanced (retina)
MalaCardsiARMC9
MIMi617612, gene
617622, phenotype
neXtProtiNX_Q7Z3E5
OpenTargetsiENSG00000135931
Orphaneti475, Joubert syndrome
PharmGKBiPA142672581

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QQ9W, Eukaryota
GeneTreeiENSGT00390000018026
HOGENOMiCLU_007962_1_0_1
InParanoidiQ7Z3E5
OMAiFMNLCLR
OrthoDBi1327587at2759
PhylomeDBiQ7Z3E5
TreeFamiTF317676

Enzyme and pathway databases

PathwayCommonsiQ7Z3E5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80210, 6 hits in 842 CRISPR screens

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

More...ChiTaRSi		ARMC9, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ARMC9

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

More...GenomeRNAii		80210
PharosiQ7Z3E5, Tbio

Protein Ontology

More...PROi		PR:Q7Z3E5
RNActiQ7Z3E5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135931, Expressed in pigmented layer of retina and 210 other tissues
ExpressionAtlasiQ7Z3E5, baseline and differential
GenevisibleiQ7Z3E5, HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR040369, ARMC9
IPR006594, LisH
PANTHERiPTHR14881, PTHR14881, 1 hit
SMARTiView protein in SMART
SM00667, LisH, 1 hit
SUPFAMiSSF48371, SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50896, LISH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiARMC9_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: Q7Z3E5
Secondary accession number(s): A0A087X1I8
, Q53TI3, Q6P162, Q7L594, Q86WG2, Q96JF9, Q9H9R8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 28, 2018
Last modified: December 2, 2020
This is version 139 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

Reference proteome

Documents

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