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Protein

Armadillo repeat-containing protein 5

Gene

ARMC5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Armadillo repeat-containing protein 5
Gene namesi
Name:ARMC5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:25781. ARMC5.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2)3 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.
See also OMIM:615954
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti156 – 1561L → F in AIMAH2. 1 Publication
Corresponds to variant rs114930262 [ dbSNP | Ensembl ].
VAR_072354
Natural varianti315 – 3151R → Q in AIMAH2. 1 Publication
VAR_072355
Natural varianti315 – 3151R → W in AIMAH2. 1 Publication
VAR_072356
Natural varianti548 – 5481L → P in AIMAH2. 1 Publication
Corresponds to variant rs587777661 [ dbSNP | Ensembl ].
VAR_072357
Natural varianti593 – 5931R → W in AIMAH2. 2 Publications
Corresponds to variant rs587777662 [ dbSNP | Ensembl ].
VAR_072358
Natural varianti898 – 8981R → W in AIMAH2. 2 Publications
Corresponds to variant rs587777659 [ dbSNP | Ensembl ].
VAR_072360

Keywords - Diseasei

Cushing syndrome, Disease mutation

Organism-specific databases

MalaCardsiARMC5.
MIMi615954. phenotype.
Orphaneti189427. ACTH-independent macronodular adrenal hyperplasia.
PharmGKBiPA134926941.

Polymorphism and mutation databases

BioMutaiARMC5.
DMDMi145558851.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 935935Armadillo repeat-containing protein 5PRO_0000284405Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei341 – 3411PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96C12.
MaxQBiQ96C12.
PaxDbiQ96C12.
PeptideAtlasiQ96C12.
PRIDEiQ96C12.

PTM databases

iPTMnetiQ96C12.
PhosphoSiteiQ96C12.

Expressioni

Gene expression databases

BgeeiENSG00000140691.
CleanExiHS_ARMC5.
ExpressionAtlasiQ96C12. baseline and differential.
GenevisibleiQ96C12. HS.

Organism-specific databases

HPAiHPA041524.
HPA063706.

Interactioni

Protein-protein interaction databases

BioGridi122895. 5 interactions.
IntActiQ96C12. 4 interactions.
STRINGi9606.ENSP00000268314.

Structurei

3D structure databases

ProteinModelPortaliQ96C12.
SMRiQ96C12. Positions 153-378.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati143 – 18341ARM 1Add
BLAST
Repeati185 – 22541ARM 2Add
BLAST
Repeati227 – 26741ARM 3Add
BLAST
Repeati271 – 31040ARM 4Add
BLAST
Repeati312 – 35746ARM 5Add
BLAST
Repeati359 – 40345ARM 6Add
BLAST
Repeati405 – 44440ARM 7Add
BLAST
Domaini748 – 81669BTBPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 7 ARM repeats.PROSITE-ProRule annotation
Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410JR1T. Eukaryota.
ENOG410XVAI. LUCA.
GeneTreeiENSGT00390000009109.
HOGENOMiHOG000034055.
HOVERGENiHBG055351.
InParanoidiQ96C12.
PhylomeDBiQ96C12.
TreeFamiTF337762.

Family and domain databases

Gene3Di1.25.10.10. 4 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR000210. BTB/POZ_dom.
[Graphical view]
SMARTiSM00185. ARM. 5 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
PROSITEiPS50176. ARM_REPEAT. 1 hit.
PS50097. BTB. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96C12-1) [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
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
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

Sequence cautioni

The sequence BAB15720 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141F → Y.1 Publication
Corresponds to variant rs151069962 [ dbSNP | Ensembl ].
VAR_072352
Natural varianti115 – 1151S → P.1 Publication
Corresponds to variant rs199693319 [ dbSNP | Ensembl ].
VAR_072353
Natural varianti156 – 1561L → F in AIMAH2. 1 Publication
Corresponds to variant rs114930262 [ dbSNP | Ensembl ].
VAR_072354
Natural varianti170 – 1701I → V.2 Publications
Corresponds to variant rs35923277 [ dbSNP | Ensembl ].
VAR_050674
Natural varianti315 – 3151R → Q in AIMAH2. 1 Publication
VAR_072355
Natural varianti315 – 3151R → W in AIMAH2. 1 Publication
VAR_072356
Natural varianti548 – 5481L → P in AIMAH2. 1 Publication
Corresponds to variant rs587777661 [ dbSNP | Ensembl ].
VAR_072357
Natural varianti593 – 5931R → W in AIMAH2. 2 Publications
Corresponds to variant rs587777662 [ dbSNP | Ensembl ].
VAR_072358
Natural varianti798 – 7981G → A.1 Publication
Corresponds to variant rs115611533 [ dbSNP | Ensembl ].
VAR_072359
Natural varianti898 – 8981R → W in AIMAH2. 2 Publications
Corresponds to variant rs587777659 [ dbSNP | Ensembl ].
VAR_072360

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 164164Missing in isoform 2 and isoform 3. 2 PublicationsVSP_024505Add
BLAST
Alternative sequencei624 – 725102RLLQN…PQAVP → FPYPPVSLPPCESPSSPMAS MGPEPHLPTHLSSPARPPDN LSPEWGGEQGVPVPPWAHRQ SSAVSSALALGPRYPNSRCS PAPRIWAGLCFFPGSAIGSA LS in isoform 4. 2 PublicationsVSP_024506Add
BLAST
Alternative sequencei667 – 935269Missing in isoform 3. 1 PublicationVSP_024507Add
BLAST
Alternative sequencei726 – 935210Missing in isoform 4. 2 PublicationsVSP_024508Add
BLAST

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]
UniGeneiHs.732945.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.732945.

3D structure databases

ProteinModelPortaliQ96C12.
SMRiQ96C12. Positions 153-378.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122895. 5 interactions.
IntActiQ96C12. 4 interactions.
STRINGi9606.ENSP00000268314.

PTM databases

iPTMnetiQ96C12.
PhosphoSiteiQ96C12.

Polymorphism and mutation databases

BioMutaiARMC5.
DMDMi145558851.

Proteomic databases

EPDiQ96C12.
MaxQBiQ96C12.
PaxDbiQ96C12.
PeptideAtlasiQ96C12.
PRIDEiQ96C12.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

CTDi79798.
GeneCardsiARMC5.
HGNCiHGNC:25781. ARMC5.
HPAiHPA041524.
HPA063706.
MalaCardsiARMC5.
MIMi615549. gene.
615954. phenotype.
neXtProtiNX_Q96C12.
Orphaneti189427. ACTH-independent macronodular adrenal hyperplasia.
PharmGKBiPA134926941.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JR1T. Eukaryota.
ENOG410XVAI. LUCA.
GeneTreeiENSGT00390000009109.
HOGENOMiHOG000034055.
HOVERGENiHBG055351.
InParanoidiQ96C12.
PhylomeDBiQ96C12.
TreeFamiTF337762.

Miscellaneous databases

ChiTaRSiARMC5. human.
GenomeRNAii79798.
PROiQ96C12.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140691.
CleanExiHS_ARMC5.
ExpressionAtlasiQ96C12. baseline and differential.
GenevisibleiQ96C12. HS.

Family and domain databases

Gene3Di1.25.10.10. 4 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR000210. BTB/POZ_dom.
[Graphical view]
SMARTiSM00185. ARM. 5 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
PROSITEiPS50176. ARM_REPEAT. 1 hit.
PS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiARMC5_HUMAN
AccessioniPrimary (citable) accession number: Q96C12
Secondary accession number(s): Q86WM9, Q9H7P8, Q9H925
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: September 7, 2016
This is version 116 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.