Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Armadillo repeat-containing protein 4

Gene

ARMC4

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

Functioni

Ciliary protein that may be involved in a late step of axonemal outer dynein arm assembly.1 Publication

GO - Biological processi

  • cilium movement Source: SYSCILIA_CCNET
  • determination of left/right symmetry Source: SYSCILIA_CCNET
  • heart development Source: Ensembl
  • outer dynein arm assembly Source: SYSCILIA_CCNET
  • regulation of cilium beat frequency Source: SYSCILIA_CCNET
  • ventricular system development Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Armadillo repeat-containing protein 4
Gene namesi
Name:ARMC4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:25583. ARMC4.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: SYSCILIA_CCNET
  • ciliary base Source: MGI
  • cytoplasm Source: GO_Central
  • nucleoplasm Source: HPA
  • nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 23 (CILD23)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. Contrary to the wild-type protein, disease-causing variant Trp-927 is unable to rescue the phenotype (randomization of heart looping) of the morpholino knockdown of the orthologous protein in zebrafish (PubMed:23849778).1 Publication
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
See also OMIM:615451
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti927 – 9271L → W in CILD23; no effect on subcellular location, markedly reduced ciliary beat frequency and amplitude or complete immotility in most, but not all, respiratory cilia. 1 Publication
Corresponds to variant rs587777047 [ dbSNP | Ensembl ].
VAR_070228

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MalaCardsiARMC4.
MIMi615451. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134877125.

Polymorphism and mutation databases

BioMutaiARMC4.
DMDMi74744660.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10441044Armadillo repeat-containing protein 4PRO_0000243931Add
BLAST

Proteomic databases

EPDiQ5T2S8.
MaxQBiQ5T2S8.
PaxDbiQ5T2S8.
PeptideAtlasiQ5T2S8.
PRIDEiQ5T2S8.

PTM databases

iPTMnetiQ5T2S8.
PhosphoSiteiQ5T2S8.

Expressioni

Tissue specificityi

Expressed in respiratory epithelial cells (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000169126.
CleanExiHS_ARMC4.
ExpressionAtlasiQ5T2S8. baseline and differential.
GenevisibleiQ5T2S8. HS.

Organism-specific databases

HPAiHPA037828.
HPA037829.

Interactioni

Protein-protein interaction databases

MINTiMINT-2817143.
STRINGi9606.ENSP00000306410.

Structurei

3D structure databases

ProteinModelPortaliQ5T2S8.
SMRiQ5T2S8. Positions 454-1031.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati484 – 52340ARM 1Add
BLAST
Repeati525 – 56440ARM 2Add
BLAST
Repeati622 – 66140ARM 3Add
BLAST
Repeati663 – 70240ARM 4Add
BLAST
Repeati746 – 78540ARM 5Add
BLAST
Repeati828 – 86740ARM 6Add
BLAST
Repeati871 – 91040ARM 7Add
BLAST
Repeati912 – 95140ARM 8Add
BLAST
Repeati953 – 99240ARM 9Add
BLAST
Repeati994 – 103340ARM 10Add
BLAST

Sequence similaritiesi

Contains 10 ARM repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0167. Eukaryota.
ENOG410XRTN. LUCA.
GeneTreeiENSGT00730000110852.
HOGENOMiHOG000013178.
HOVERGENiHBG080865.
InParanoidiQ5T2S8.
OMAiPWRQVHG.
OrthoDBiEOG091G035M.
PhylomeDBiQ5T2S8.
TreeFamiTF324155.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR026959. ARMC4.
IPR023231. GSKIP_dom.
[Graphical view]
PANTHERiPTHR23315:SF44. PTHR23315:SF44. 3 hits.
PfamiPF00514. Arm. 2 hits.
[Graphical view]
SMARTiSM00185. ARM. 13 hits.
[Graphical view]
SUPFAMiSSF103107. SSF103107. 1 hit.
SSF48371. SSF48371. 2 hits.
PROSITEiPS50176. ARM_REPEAT. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5T2S8-1) [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
MGVALRKLTQ WTAAGHGTGI LEITPLNEAI LKEIIVFVES FIYKHPQEAK
60 70 80 90 100
FVFVEPLEWN TSLAPSAFES GYVVSETTVK SEEVDKNGQP LLFLSVPQIK
110 120 130 140 150
IRSFGQLSRL LLIAKTGKLK EAQACVEANR DPIVKILGSD YNTMKENSIA
160 170 180 190 200
LNILGKITRD DDPESEIKMK IAMLLKQLDL HLLNHSLKHI SLEISLSPMT
210 220 230 240 250
VKKDIELLKR FSGKGNQTVL ESIEYTSDYE FSNGCRAPPW RQIRGEICYV
260 270 280 290 300
LVKPHDGETL CITCSAGGVF LNGGKTDDEG DVNYERKGSI YKNLVTFLRE
310 320 330 340 350
KSPKFSENMS KLGISFSEDQ QKEKDQLGKA PKKEEAAALR KDISGSDKRS
360 370 380 390 400
LEKNQINFWR NQMTKRWEPS LNWKTTVNYK GKGSAKEIQE DKHTGKLEKP
410 420 430 440 450
RPSVSHGRAQ LLRKSAEKIE ETVSDSSSES EEDEEPPDHR QEASADLPSE
460 470 480 490 500
YWQIQKLVKY LKGGNQTATV IALCSMRDFS LAQETCQLAI RDVGGLEVLI
510 520 530 540 550
NLLETDEVKC KIGSLKILKE ISHNPQIRQN IVDLGGLPIM VNILDSPHKS
560 570 580 590 600
LKCLAAETIA NVAKFKRARR VVRQHGGITK LVALLDCAHD STKPAQSSLY
610 620 630 640 650
EARDVEVARC GALALWSCSK SHTNKEAIRK AGGIPLLARL LKTSHENMLI
660 670 680 690 700
PVVGTLQECA SEENYRAAIK AERIIENLVK NLNSENEQLQ EHCAMAIYQC
710 720 730 740 750
AEDKETRDLV RLHGGLKPLA SLLNNTDNKE RLAAVTGAIW KCSISKENVT
760 770 780 790 800
KFREYKAIET LVGLLTDQPE EVLVNVVGAL GECCQERENR VIVRKCGGIQ
810 820 830 840 850
PLVNLLVGIN QALLVNVTKA VGACAVEPES MMIIDRLDGV RLLWSLLKNP
860 870 880 890 900
HPDVKASAAW ALCPCIKNAK DAGEMVRSFV GGLELIVNLL KSDNKEVLAS
910 920 930 940 950
VCAAITNIAK DQENLAVITD HGVVPLLSKL ANTNNNKLRH HLAEAISRCC
960 970 980 990 1000
MWGRNRVAFG EHKAVAPLVR YLKSNDTNVH RATAQALYQL SEDADNCITM
1010 1020 1030 1040
HENGAVKLLL DMVGSPDQDL QEAAAGCISN IRRLALATEK ARYT
Length:1,044
Mass (Da):115,679
Last modified:December 21, 2004 - v1
Checksum:iC0D869AFC3B03E9D
GO
Isoform 2 (identifier: Q5T2S8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-475: Missing.
     1008-1044: LLLDMVGSPD...ALATEKARYT → TESRHVARLE...LQRRQDTLEI

Note: No experimental confirmation available.
Show »
Length:612
Mass (Da):67,624
Checksum:i8F59AD9C864D9CBC
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti343 – 3431I → T.
Corresponds to variant rs4405206 [ dbSNP | Ensembl ].
VAR_050672
Natural varianti927 – 9271L → W in CILD23; no effect on subcellular location, markedly reduced ciliary beat frequency and amplitude or complete immotility in most, but not all, respiratory cilia. 1 Publication
Corresponds to variant rs587777047 [ dbSNP | Ensembl ].
VAR_070228
Natural varianti935 – 9351N → K.
Corresponds to variant rs35181927 [ dbSNP | Ensembl ].
VAR_033514
Natural varianti1041 – 10411A → S.
Corresponds to variant rs3737184 [ dbSNP | Ensembl ].
VAR_050673

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 475475Missing in isoform 2. 1 PublicationVSP_056695Add
BLAST
Alternative sequencei1008 – 104437LLLDM…KARYT → TESRHVARLECSDNDLGSLQ PPPPGFKRFSCLSLLSSWDY SFYWIWLGPLTRISRKLQLV VYPISAGWLLLQRRQDTLEI in isoform 2. 1 PublicationVSP_056696Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292521 mRNA. Translation: BAF85210.1.
AK302048 mRNA. Translation: BAH13617.1.
AC024606 Genomic DNA. No translation available.
AL390866 Genomic DNA. No translation available.
AL355372 Genomic DNA. No translation available.
CH471072 Genomic DNA. Translation: EAW86050.1.
BC140846 mRNA. Translation: AAI40847.1.
AL136859 mRNA. Translation: CAB66793.2.
CCDSiCCDS7157.1. [Q5T2S8-1]
RefSeqiNP_001276949.1. NM_001290020.1. [Q5T2S8-1]
NP_001276950.1. NM_001290021.1. [Q5T2S8-2]
NP_001299618.1. NM_001312689.1.
NP_060546.2. NM_018076.4. [Q5T2S8-1]
UniGeneiHs.127530.

Genome annotation databases

EnsembliENST00000305242; ENSP00000306410; ENSG00000169126. [Q5T2S8-1]
GeneIDi55130.
KEGGihsa:55130.
UCSCiuc001itz.3. human. [Q5T2S8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292521 mRNA. Translation: BAF85210.1.
AK302048 mRNA. Translation: BAH13617.1.
AC024606 Genomic DNA. No translation available.
AL390866 Genomic DNA. No translation available.
AL355372 Genomic DNA. No translation available.
CH471072 Genomic DNA. Translation: EAW86050.1.
BC140846 mRNA. Translation: AAI40847.1.
AL136859 mRNA. Translation: CAB66793.2.
CCDSiCCDS7157.1. [Q5T2S8-1]
RefSeqiNP_001276949.1. NM_001290020.1. [Q5T2S8-1]
NP_001276950.1. NM_001290021.1. [Q5T2S8-2]
NP_001299618.1. NM_001312689.1.
NP_060546.2. NM_018076.4. [Q5T2S8-1]
UniGeneiHs.127530.

3D structure databases

ProteinModelPortaliQ5T2S8.
SMRiQ5T2S8. Positions 454-1031.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

MINTiMINT-2817143.
STRINGi9606.ENSP00000306410.

PTM databases

iPTMnetiQ5T2S8.
PhosphoSiteiQ5T2S8.

Polymorphism and mutation databases

BioMutaiARMC4.
DMDMi74744660.

Proteomic databases

EPDiQ5T2S8.
MaxQBiQ5T2S8.
PaxDbiQ5T2S8.
PeptideAtlasiQ5T2S8.
PRIDEiQ5T2S8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305242; ENSP00000306410; ENSG00000169126. [Q5T2S8-1]
GeneIDi55130.
KEGGihsa:55130.
UCSCiuc001itz.3. human. [Q5T2S8-1]

Organism-specific databases

CTDi55130.
GeneCardsiARMC4.
HGNCiHGNC:25583. ARMC4.
HPAiHPA037828.
HPA037829.
MalaCardsiARMC4.
MIMi615408. gene.
615451. phenotype.
neXtProtiNX_Q5T2S8.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134877125.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0167. Eukaryota.
ENOG410XRTN. LUCA.
GeneTreeiENSGT00730000110852.
HOGENOMiHOG000013178.
HOVERGENiHBG080865.
InParanoidiQ5T2S8.
OMAiPWRQVHG.
OrthoDBiEOG091G035M.
PhylomeDBiQ5T2S8.
TreeFamiTF324155.

Miscellaneous databases

GenomeRNAii55130.
PROiQ5T2S8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169126.
CleanExiHS_ARMC4.
ExpressionAtlasiQ5T2S8. baseline and differential.
GenevisibleiQ5T2S8. HS.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR026959. ARMC4.
IPR023231. GSKIP_dom.
[Graphical view]
PANTHERiPTHR23315:SF44. PTHR23315:SF44. 3 hits.
PfamiPF00514. Arm. 2 hits.
[Graphical view]
SMARTiSM00185. ARM. 13 hits.
[Graphical view]
SUPFAMiSSF103107. SSF103107. 1 hit.
SSF48371. SSF48371. 2 hits.
PROSITEiPS50176. ARM_REPEAT. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiARMC4_HUMAN
AccessioniPrimary (citable) accession number: Q5T2S8
Secondary accession number(s): A8K906, B7Z7I1, Q9H0C0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: December 21, 2004
Last modified: September 7, 2016
This is version 110 of the entry and version 1 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 10
    Human chromosome 10: 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.