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Entry version 141 (16 Oct 2019)
Sequence version 2 (17 Apr 2007)
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Protein

Armadillo repeat-containing protein 5

Gene

ARMC5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in fetal development, T-cell function and adrenal gland growth homeostasis (By similarity). Negatively regulates adrenal cells survival. Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production (PubMed:24283224, PubMed:28676429).By similarity2 Publications

<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:
Armadillo repeat-containing protein 5Curated
<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:ARMC5Imported
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25781 ARMC5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615549 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96C12

<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

<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>Keywords - Cellular componenti

Cytoplasm

<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

ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
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_07909631 – 935Missing in AIMAH2. 1 PublicationAdd BLAST905
Natural variantiVAR_07909876 – 935Missing in AIMAH2. 1 PublicationAdd BLAST860
Natural variantiVAR_07909986 – 935Missing in AIMAH2. 1 PublicationAdd BLAST850
Natural variantiVAR_079100139C → R in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_072354156L → F in AIMAH2. 2 PublicationsCorresponds to variant dbSNP:rs114930262Ensembl.1
Natural variantiVAR_079101267 – 935Missing in AIMAH2. 1 PublicationAdd BLAST669
Natural variantiVAR_072355315R → Q in AIMAH2. 1 PublicationCorresponds to variant dbSNP:rs1415974570Ensembl.1
Natural variantiVAR_072356315R → W in AIMAH2; loss of function in promoting apoptosis. 2 Publications1
Natural variantiVAR_079102318L → V in AIMAH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1293014259Ensembl.1
Natural variantiVAR_079103323G → A in AIMAH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs35461188Ensembl.1
Natural variantiVAR_079104331L → P in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079105362R → L in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079106362R → W in AIMAH2. 1 PublicationCorresponds to variant dbSNP:rs1385397608Ensembl.1
Natural variantiVAR_079107364 – 935Missing in AIMAH2. 1 PublicationAdd BLAST572
Natural variantiVAR_079108365L → P in AIMAH2. 1 PublicationCorresponds to variant dbSNP:rs587777663Ensembl.1
Natural variantiVAR_079109386 – 935Missing in AIMAH2. 1 PublicationAdd BLAST550
Natural variantiVAR_079110394L → P in AIMAH2; unknown pathological significance. 1 Publication1
Natural variantiVAR_079111430 – 935Missing in AIMAH2. 1 PublicationAdd BLAST506
Natural variantiVAR_072357548L → P in AIMAH2; loss of function in promoting apoptosis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs587777661Ensembl.1
Natural variantiVAR_079115580L → P in AIMAH2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072358593R → W in AIMAH2. 2 PublicationsCorresponds to variant dbSNP:rs587777662Ensembl.1
Natural variantiVAR_079116619 – 935Missing in AIMAH2. 1 PublicationAdd BLAST317
Natural variantiVAR_079117643T → M in AIMAH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs370836071Ensembl.1
Natural variantiVAR_079118657C → R in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079119657C → W in AIMAH2. 1 Publication1
Natural variantiVAR_079120664I → S in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079121700Missing in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079122702 – 706Missing in AIMAH2; unknown pathological significance. 1 Publication5
Natural variantiVAR_079123731P → R in AIMAH2. 1 PublicationCorresponds to variant dbSNP:rs200951744Ensembl.1
Natural variantiVAR_079124736Y → S in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079125754L → P in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079126764 – 935Missing in AIMAH2. 2 PublicationsAdd BLAST172
Natural variantiVAR_079127779 – 935Missing in AIMAH2. 1 PublicationAdd BLAST157
Natural variantiVAR_079128808H → P in AIMAH2. 1 Publication1
Natural variantiVAR_079129826P → T in AIMAH2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072360898R → W in AIMAH2; loss of function in promoting apoptosis. 4 PublicationsCorresponds to variant dbSNP:rs587777659Ensembl.1

Keywords - Diseasei

Cushing syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
79798

MalaCards human disease database

More...
MalaCardsi
ARMC5
MIMi615954 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000140691

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

More...
Orphaneti
189427 Cushing syndrome due to macronodular adrenal hyperplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134926941

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96C12

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ARMC5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
145558851

<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_00002844051 – 935Armadillo repeat-containing protein 5Add BLAST935

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 residuei341PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96C12

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96C12

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96C12

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96C12

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

More...
PaxDbi
Q96C12

PeptideAtlas

More...
PeptideAtlasi
Q96C12

PRoteomics IDEntifications database

More...
PRIDEi
Q96C12

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
76146 [Q96C12-1]
76147 [Q96C12-2]
76148 [Q96C12-3]
76149 [Q96C12-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96C12

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

More...
PhosphoSitePlusi
Q96C12

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000140691 Expressed in 195 organ(s), highest expression level in islet of Langerhans

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96C12 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96C12 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041524
HPA063706

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122895, 18 interactors

Protein interaction database and analysis system

More...
IntActi
Q96C12, 17 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000386125

<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>Repeati143 – 183ARM 1Add BLAST41
Repeati185 – 225ARM 2Add BLAST41
Repeati227 – 267ARM 3Add BLAST41
Repeati271 – 310ARM 4Add BLAST40
Repeati312 – 357ARM 5Add BLAST46
Repeati359 – 403ARM 6Add BLAST45
Repeati405 – 444ARM 7Add BLAST40
<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>Domaini748 – 816BTBPROSITE-ProRule annotationAdd BLAST69

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410JR1T Eukaryota
ENOG410XVAI LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000009109

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000034055

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96C12

KEGG Orthology (KO)

More...
KOi
K22499

Database of Orthologous Groups

More...
OrthoDBi
174815at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96C12

TreeFam database of animal gene trees

More...
TreeFami
TF337762

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000225 Armadillo
IPR000210 BTB/POZ_dom

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00185 ARM, 5 hits

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
PS50176 ARM_REPEAT, 1 hit
PS50097 BTB, 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>. 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 (4+)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 4 <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 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96C12-1) [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
MAAAKPTLTD SLSFCLAQLA AAAGEALGGE KDPATNETPL SRALLALRTR
60 70 80 90 100
HIKAAGGIER FRARGGLRPL LALLRRAAAA GSAPSQAGPG SAPSSAASGA
110 120 130 140 150
SSPAPASGPA PSAVSSSSPT PPVRLRKTLD LALSILADCC TEGACRTEVR
160 170 180 190 200
RLGGILPLVT ILQCMKTDSI QNRTARALGN LAMEPESCGD IHCAGAVPLL
210 220 230 240 250
VESLTACQDS QCLQSVVRAL RNLADSPQHR LALAQQGAVR PLAELLATAP
260 270 280 290 300
DAALTLALVR ALLELSRGCS RACAEQLSLG GGLGPLVSLA SHPKRAVREG
310 320 330 340 350
TILILANLCA QGLIRPALGN AGGVEVLVDE LRQRRDPNGA SPTSQQPLVR
360 370 380 390 400
AVCLLCREAI NRARLRDAGG LDLLMGLLRD PRASAWHPRI VAALVGFLYD
410 420 430 440 450
TGALGRLQAL GLVPLLAGQL CGEAGEEEEE GREAASWDFP EERTPERAQG
460 470 480 490 500
GSFRSLRSWL ISEGYATGPD DISPDWSPEQ CPPEPMEPAS PAPTPTSLRA
510 520 530 540 550
PRTQRTPGRS PAAAIEEPWG REGPALLLLS RFSQAPDPSG ALVTGPALYG
560 570 580 590 600
LLTYVTGAPG PPSPRALRIL SRLTCNPACL EAFVRSYGAA LLRAWLVLGV
610 620 630 640 650
APDDWPAPRA RPTLHSRHRE LGERLLQNLT VQAESPFGVG ALTHLLLSGS
660 670 680 690 700
PEDRVACALT LPFICRKPSL WRRLLLEQGG LRLLLAALTR PAPHPLFLFF
710 720 730 740 750
AADSLSCLQD LVSPTVSPAV PQAVPMDLDS PSPCLYEPLL GPAPVPAPDL
760 770 780 790 800
HFLLDSGLQL PAQRAASATA SPFFRALLSG SFAEAQMDLV PLRGLSPGAA
810 820 830 840 850
WPVLHHLHGC RGCGAALGPV PPPGQPLLGS EAEEALEAAG RFLLPGLEEE
860 870 880 890 900
LEEAVGRIHL GPQGGPESVG EVFRLGRPRL AAHCARWTLG SEQCPRKRGL
910 920 930
ALVGLVEAAG EEAGPLTEAL LAVVMGIELG ARVPA
Note: Gene prediction based on EST data.
Length:935
Mass (Da):97,682
Last modified:April 17, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEA2F94BA028C3B1C
GO
Isoform 2 (identifier: Q96C12-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-164: Missing.

Note: No experimental confirmation available.
Show »
Length:771
Mass (Da):81,369
Checksum:i98E3B052CD34191B
GO
Isoform 3 (identifier: Q96C12-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-164: Missing.
     667-935: Missing.

Show »
Length:502
Mass (Da):53,306
Checksum:i949C53AB035CD55A
GO
Isoform 4 (identifier: Q96C12-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     624-725: RLLQNLTVQA...VSPAVPQAVP → FPYPPVSLPP...PGSAIGSALS
     726-935: Missing.

Note: No experimental confirmation available.
Show »
Length:725
Mass (Da):75,649
Checksum:i67E9C26D0B308D37
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KQ26J3KQ26_HUMAN
Armadillo repeat-containing protein...
ARMC5
1,030Annotation 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>
H3BS74H3BS74_HUMAN
Armadillo repeat-containing protein...
ARMC5
598Annotation 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>
A0A1D5RMU3A0A1D5RMU3_HUMAN
Armadillo repeat-containing protein...
ARMC5
10Annotation 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 BAB15720 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07235214F → Y3 PublicationsCorresponds to variant dbSNP:rs151069962Ensembl.1
Natural variantiVAR_07909631 – 935Missing in AIMAH2. 1 PublicationAdd BLAST905
Natural variantiVAR_07909756G → A1 PublicationCorresponds to variant dbSNP:rs780112907Ensembl.1
Natural variantiVAR_07909876 – 935Missing in AIMAH2. 1 PublicationAdd BLAST860
Natural variantiVAR_07909986 – 935Missing in AIMAH2. 1 PublicationAdd BLAST850
Natural variantiVAR_072353115S → P1 PublicationCorresponds to variant dbSNP:rs199693319Ensembl.1
Natural variantiVAR_079100139C → R in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_072354156L → F in AIMAH2. 2 PublicationsCorresponds to variant dbSNP:rs114930262Ensembl.1
Natural variantiVAR_050674170I → V4 PublicationsCorresponds to variant dbSNP:rs35923277Ensembl.1
Natural variantiVAR_079101267 – 935Missing in AIMAH2. 1 PublicationAdd BLAST669
Natural variantiVAR_072355315R → Q in AIMAH2. 1 PublicationCorresponds to variant dbSNP:rs1415974570Ensembl.1
Natural variantiVAR_072356315R → W in AIMAH2; loss of function in promoting apoptosis. 2 Publications1
Natural variantiVAR_079102318L → V in AIMAH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1293014259Ensembl.1
Natural variantiVAR_079103323G → A in AIMAH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs35461188Ensembl.1
Natural variantiVAR_079104331L → P in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079105362R → L in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079106362R → W in AIMAH2. 1 PublicationCorresponds to variant dbSNP:rs1385397608Ensembl.1
Natural variantiVAR_079107364 – 935Missing in AIMAH2. 1 PublicationAdd BLAST572
Natural variantiVAR_079108365L → P in AIMAH2. 1 PublicationCorresponds to variant dbSNP:rs587777663Ensembl.1
Natural variantiVAR_079109386 – 935Missing in AIMAH2. 1 PublicationAdd BLAST550
Natural variantiVAR_079110394L → P in AIMAH2; unknown pathological significance. 1 Publication1
Natural variantiVAR_079111430 – 935Missing in AIMAH2. 1 PublicationAdd BLAST506
Natural variantiVAR_079112483P → L1 PublicationCorresponds to variant dbSNP:rs552657393Ensembl.1
Natural variantiVAR_079113502R → H1 PublicationCorresponds to variant dbSNP:rs200054015Ensembl.1
Natural variantiVAR_079114507P → L1 PublicationCorresponds to variant dbSNP:rs142376949Ensembl.1
Natural variantiVAR_072357548L → P in AIMAH2; loss of function in promoting apoptosis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs587777661Ensembl.1
Natural variantiVAR_079115580L → P in AIMAH2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072358593R → W in AIMAH2. 2 PublicationsCorresponds to variant dbSNP:rs587777662Ensembl.1
Natural variantiVAR_079116619 – 935Missing in AIMAH2. 1 PublicationAdd BLAST317
Natural variantiVAR_079117643T → M in AIMAH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs370836071Ensembl.1
Natural variantiVAR_079118657C → R in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079119657C → W in AIMAH2. 1 Publication1
Natural variantiVAR_079120664I → S in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079121700Missing in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079122702 – 706Missing in AIMAH2; unknown pathological significance. 1 Publication5
Natural variantiVAR_079123731P → R in AIMAH2. 1 PublicationCorresponds to variant dbSNP:rs200951744Ensembl.1
Natural variantiVAR_079124736Y → S in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079125754L → P in AIMAH2; loss of function in promoting apoptosis. 1 Publication1
Natural variantiVAR_079126764 – 935Missing in AIMAH2. 2 PublicationsAdd BLAST172
Natural variantiVAR_079127779 – 935Missing in AIMAH2. 1 PublicationAdd BLAST157
Natural variantiVAR_072359798G → A2 PublicationsCorresponds to variant dbSNP:rs115611533Ensembl.1
Natural variantiVAR_079128808H → P in AIMAH2. 1 Publication1
Natural variantiVAR_079129826P → T in AIMAH2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072360898R → W in AIMAH2; loss of function in promoting apoptosis. 4 PublicationsCorresponds to variant dbSNP:rs587777659Ensembl.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_0245051 – 164Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST164
Alternative sequenceiVSP_024506624 – 725RLLQN…PQAVP → FPYPPVSLPPCESPSSPMAS MGPEPHLPTHLSSPARPPDN LSPEWGGEQGVPVPPWAHRQ SSAVSSALALGPRYPNSRCS PAPRIWAGLCFFPGSAIGSA LS in isoform 4. 2 PublicationsAdd BLAST102
Alternative sequenceiVSP_024507667 – 935Missing in isoform 3. 1 PublicationAdd BLAST269
Alternative sequenceiVSP_024508726 – 935Missing in isoform 4. 2 PublicationsAdd BLAST210

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

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DDBJi
Links Updated
AY217348 mRNA Translation: AAO45101.1
AK023125 mRNA Translation: BAB14418.1
AK024430 mRNA Translation: BAB15720.1 Different initiation.
AC026471 Genomic DNA No translation available.
BC014945 mRNA Translation: AAH14945.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42155.1 [Q96C12-4]
CCDS45472.1 [Q96C12-1]

NCBI Reference Sequences

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RefSeqi
NP_001098717.1, NM_001105247.1 [Q96C12-1]
NP_001275696.1, NM_001288767.1
NP_001288749.1, NM_001301820.1
NP_079018.1, NM_024742.2 [Q96C12-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000268314; ENSP00000268314; ENSG00000140691 [Q96C12-1]
ENST00000457010; ENSP00000399561; ENSG00000140691 [Q96C12-4]
ENST00000538189; ENSP00000443995; ENSG00000140691 [Q96C12-2]
ENST00000563544; ENSP00000456877; ENSG00000140691 [Q96C12-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79798

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79798

UCSC genome browser

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UCSCi
uc002eca.5 human [Q96C12-1]

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
AY217348 mRNA Translation: AAO45101.1
AK023125 mRNA Translation: BAB14418.1
AK024430 mRNA Translation: BAB15720.1 Different initiation.
AC026471 Genomic DNA No translation available.
BC014945 mRNA Translation: AAH14945.1
CCDSiCCDS42155.1 [Q96C12-4]
CCDS45472.1 [Q96C12-1]
RefSeqiNP_001098717.1, NM_001105247.1 [Q96C12-1]
NP_001275696.1, NM_001288767.1
NP_001288749.1, NM_001301820.1
NP_079018.1, NM_024742.2 [Q96C12-4]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi122895, 18 interactors
IntActiQ96C12, 17 interactors
STRINGi9606.ENSP00000386125

PTM databases

iPTMnetiQ96C12
PhosphoSitePlusiQ96C12

Polymorphism and mutation databases

BioMutaiARMC5
DMDMi145558851

Proteomic databases

EPDiQ96C12
jPOSTiQ96C12
MassIVEiQ96C12
MaxQBiQ96C12
PaxDbiQ96C12
PeptideAtlasiQ96C12
PRIDEiQ96C12
ProteomicsDBi76146 [Q96C12-1]
76147 [Q96C12-2]
76148 [Q96C12-3]
76149 [Q96C12-4]

Genome annotation databases

EnsembliENST00000268314; ENSP00000268314; ENSG00000140691 [Q96C12-1]
ENST00000457010; ENSP00000399561; ENSG00000140691 [Q96C12-4]
ENST00000538189; ENSP00000443995; ENSG00000140691 [Q96C12-2]
ENST00000563544; ENSP00000456877; ENSG00000140691 [Q96C12-1]
GeneIDi79798
KEGGihsa:79798
UCSCiuc002eca.5 human [Q96C12-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79798
DisGeNETi79798

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ARMC5
HGNCiHGNC:25781 ARMC5
HPAiHPA041524
HPA063706
MalaCardsiARMC5
MIMi615549 gene
615954 phenotype
neXtProtiNX_Q96C12
OpenTargetsiENSG00000140691
Orphaneti189427 Cushing syndrome due to macronodular adrenal hyperplasia
PharmGKBiPA134926941

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410JR1T Eukaryota
ENOG410XVAI LUCA
GeneTreeiENSGT00390000009109
HOGENOMiHOG000034055
InParanoidiQ96C12
KOiK22499
OrthoDBi174815at2759
PhylomeDBiQ96C12
TreeFamiTF337762

Miscellaneous databases

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

More...
ChiTaRSi
ARMC5 human

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

More...
GenomeRNAii
79798
PharosiQ96C12

Protein Ontology

More...
PROi
PR:Q96C12

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000140691 Expressed in 195 organ(s), highest expression level in islet of Langerhans
ExpressionAtlasiQ96C12 baseline and differential
GenevisibleiQ96C12 HS

Family and domain databases

Gene3Di1.25.10.10, 2 hits
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000225 Armadillo
IPR000210 BTB/POZ_dom
SMARTiView protein in SMART
SM00185 ARM, 5 hits
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50176 ARM_REPEAT, 1 hit
PS50097 BTB, 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 nameiARMC5_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: Q96C12
Secondary accession number(s): Q86WM9, Q9H7P8, Q9H925
<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: April 17, 2007
Last sequence update: April 17, 2007
Last modified: October 16, 2019
This is version 141 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human 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 16
    Human chromosome 16: 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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