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Entry version 126 (13 Feb 2019)
Sequence version 3 (28 Mar 2018)
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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

Required for ciliogenesis.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

<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

<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:
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_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:ARMC9Imported
Synonyms:KIAA1868
<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

Eukaryotic Pathogen 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; 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.
See also OMIM:617622
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 Publication1
Natural variantiVAR_080502520P → L in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167449Ensembl.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

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.<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

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 human proteome resource

More...
ProteomicsDBi
69042
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 200 organ(s), highest expression level in pigmented layer of retina

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
HPA019041
HPA026671

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123179, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q7Z3E5, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000258417

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q7Z3E5

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

More...
SMRi
Q7Z3E5

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>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
ENOG410IGND Eukaryota
ENOG410YSH6 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000018026

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG080866

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z3E5

KEGG Orthology (KO)

More...
KOi
K22864

Identification of Orthologs from Complete Genome Data

More...
OMAi
GRPDKED

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

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

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

This entry has 2 described isoforms and 7 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 '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
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 7 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: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>
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>
H7C3U7H7C3U7_HUMAN
LisH domain-containing protein ARMC...
ARMC9
194Annotation 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>
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>
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. Translation N-terminally extended.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:rs1626450Ensembl.1
Natural variantiVAR_031171209I → T. Corresponds to variant dbSNP:rs16827883Ensembl.1
Natural variantiVAR_031172222R → H. Corresponds to variant dbSNP:rs3752780Ensembl.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 Publication1
Natural variantiVAR_080502520P → L in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167449Ensembl.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

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EMBLi

GenBank nucleotide sequence database

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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

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CCDSi
CCDS74666.1 [Q7Z3E5-1]

NCBI Reference Sequences

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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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.162411
Hs.471610
Hs.744341

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

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GeneIDi
80210

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:80210

UCSC genome browser

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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
UniGeneiHs.162411
Hs.471610
Hs.744341

3D structure databases

ProteinModelPortaliQ7Z3E5
SMRiQ7Z3E5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123179, 9 interactors
IntActiQ7Z3E5, 3 interactors
STRINGi9606.ENSP00000258417

PTM databases

iPTMnetiQ7Z3E5
PhosphoSitePlusiQ7Z3E5

Polymorphism and mutation databases

BioMutaiARMC9
DMDMi134035387

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
80210
Structural Biology KnowledgebaseSearch...

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

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0002915
HGNCiHGNC:20730 ARMC9
HPAiHPA019041
HPA026671
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

eggNOGiENOG410IGND Eukaryota
ENOG410YSH6 LUCA
GeneTreeiENSGT00390000018026
HOVERGENiHBG080866
InParanoidiQ7Z3E5
KOiK22864
OMAiGRPDKED
OrthoDBi1327587at2759
PhylomeDBiQ7Z3E5
TreeFamiTF317676

Miscellaneous databases

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

Protein Ontology

More...
PROi
PR:Q7Z3E5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000135931 Expressed in 200 organ(s), highest expression level in pigmented layer of retina
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...

<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_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: March 20, 2007
Last sequence update: March 28, 2018
Last modified: February 13, 2019
This is version 126 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 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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