UniProtKB - Q7Z3E5 (ARMC9_HUMAN)
LisH domain-containing protein ARMC9
ARMC9
Functioni
Involved in ciliogenesis (PubMed:32453716).
It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716).
Acts as a positive regulator of hedgehog (Hh)signaling (By similarity).
May participate in the trafficking and/or retention of GLI2 and GLI3 proteins at the ciliary tip (By similarity).
By similarity1 PublicationGO - Biological processi
- cilium assembly Source: UniProtKB
- positive regulation of smoothened signaling pathway Source: UniProtKB
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q7Z3E5 |
SignaLinki | Q7Z3E5 |
Names & Taxonomyi
Protein namesi | Recommended name: LisH domain-containing protein ARMC9Alternative name(s): Armadillo repeat-containing protein 9 Melanoma/melanocyte-specific tumor antigen KU-MEL-1 NS21 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20730, ARMC9 |
MIMi | 617612, gene |
neXtProti | NX_Q7Z3E5 |
VEuPathDBi | HostDB:ENSG00000135931 |
Subcellular locationi
Cytoskeleton
- cilium basal body 1 Publication
- centriole 1 Publication
Other locations
- cilium By similarity
Note: Localized to the proximal region in cilia. Stimulation of Hh signaling leads to redistribution of ARMC9 toward the ciliary tip within 6 hours, follow by a gradual return to its original proximal location (By similarity). Localizes to the daughter centriole of the primary cilium in RPE1 cells (PubMed:28625504).By similarity1 Publication
Cytoskeleton
- centriole Source: UniProtKB
- ciliary basal body Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Other locations
- ciliary tip Source: UniProtKB
- cytoplasm Source: UniProtKB-KW
Keywords - Cellular componenti
Cell projection, Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Joubert syndrome 30 (JBTS30)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080497 | 69 | G → R in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750247691EnsemblClinVar. | 1 | |
Natural variantiVAR_080498 | 87 | Missing in JBTS30; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080499 | 343 | R → C in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs759799287EnsemblClinVar. | 1 | |
Natural variantiVAR_080500 | 446 | R → C in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753432312EnsemblClinVar. | 1 | |
Natural variantiVAR_080501 | 492 | G → R in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780265931EnsemblClinVar. | 1 | |
Natural variantiVAR_080502 | 520 | P → L in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167449EnsemblClinVar. | 1 |
Keywords - Diseasei
Ciliopathy, Joubert syndromeOrganism-specific databases
DisGeNETi | 80210 |
MalaCardsi | ARMC9 |
MIMi | 617622, phenotype |
OpenTargetsi | ENSG00000135931 |
Orphaneti | 475, Joubert syndrome |
PharmGKBi | PA142672581 |
Miscellaneous databases
Pharosi | Q7Z3E5, Tbio |
Genetic variation databases
BioMutai | ARMC9 |
DMDMi | 134035387 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000280595 | 1 – 818 | LisH domain-containing protein ARMC9Add BLAST | 818 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 582 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q7Z3E5 |
jPOSTi | Q7Z3E5 |
MassIVEi | Q7Z3E5 |
PaxDbi | Q7Z3E5 |
PeptideAtlasi | Q7Z3E5 |
PRIDEi | Q7Z3E5 |
ProteomicsDBi | 69042 [Q7Z3E5-1] 69043 [Q7Z3E5-2] |
PTM databases
iPTMneti | Q7Z3E5 |
PhosphoSitePlusi | Q7Z3E5 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000135931, Expressed in pigmented layer of retina and 211 other tissues |
ExpressionAtlasi | Q7Z3E5, baseline and differential |
Genevisiblei | Q7Z3E5, HS |
Organism-specific databases
HPAi | ENSG00000135931, Tissue enhanced (retina) |
Interactioni
Subunit structurei
Interacts with TOGARAM1, CCDC66, CEP104, CSPP1 and CEP290.
1 PublicationBinary interactionsi
Isoform 2 [Q7Z3E5-2]
With | #Exp. | IntAct |
---|---|---|
CMTM5 [Q96DZ9] | 3 | EBI-10256990,EBI-2548702 |
KLHL8 - isoform 2 [Q9P2G9-2] | 3 | EBI-10256990,EBI-11959635 |
SIAH1 [Q8IUQ4] | 3 | EBI-10256990,EBI-747107 |
Protein-protein interaction databases
BioGRIDi | 123179, 15 interactors |
IntActi | Q7Z3E5, 4 interactors |
STRINGi | 9606.ENSP00000484804 |
Miscellaneous databases
RNActi | Q7Z3E5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 7 – 39 | LisHPROSITE-ProRule annotationAdd BLAST | 33 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 642 – 755 | DisorderedSequence analysisAdd BLAST | 114 | |
Regioni | 790 – 818 | DisorderedSequence analysisAdd BLAST | 29 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 204 – 230 | Sequence analysisAdd BLAST | 27 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 790 – 812 | Polar residuesSequence analysisAdd BLAST | 23 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QQ9W, Eukaryota |
GeneTreei | ENSGT00390000018026 |
HOGENOMi | CLU_007962_1_0_1 |
InParanoidi | Q7Z3E5 |
OMAi | FMNLCLR |
OrthoDBi | 1327587at2759 |
PhylomeDBi | Q7Z3E5 |
TreeFami | TF317676 |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR040369, ARMC9 IPR006594, LisH |
PANTHERi | PTHR14881, PTHR14881, 1 hit |
SMARTi | View protein in SMART SM00667, LisH, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS50896, LISH, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7BZY2 | H7BZY2_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 630 | Annotation score: | ||
A0A2Q3DP09 | A0A2Q3DP09_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 665 | Annotation score: | ||
A0A804HK42 | A0A804HK42_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 636 | Annotation score: | ||
A0A804HHZ1 | A0A804HHZ1_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 710 | Annotation score: | ||
A0A804HI20 | A0A804HI20_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 616 | Annotation score: | ||
A0A804HIH2 | A0A804HIH2_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 664 | Annotation score: | ||
A0A804HIU9 | A0A804HIU9_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 664 | Annotation score: | ||
A0A804HJ52 | A0A804HJ52_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 672 | Annotation score: | ||
A0A804HJI1 | A0A804HJI1_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 632 | Annotation score: | ||
A0A804HK85 | A0A804HK85_HUMAN | LisH domain-containing protein ARMC... | ARMC9 | 595 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 180 | I → E in AAX22760 (PubMed:11691810).Curated | 1 | |
Sequence conflicti | 180 | I → E in AAO63554 (Ref. 2) Curated | 1 | |
Sequence conflicti | 180 | I → E in CAD97923 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 180 | I → E in AAH04514 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 180 | I → E in AAH65271 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 180 | I → E in BAB14153 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 436 | L → P in AAO63554 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080497 | 69 | G → R in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750247691EnsemblClinVar. | 1 | |
Natural variantiVAR_080498 | 87 | Missing in JBTS30; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_031170 | 108 | L → F1 PublicationCorresponds to variant dbSNP:rs11558175Ensembl. | 1 | |
Natural variantiVAR_056739 | 180 | I → V. Corresponds to variant dbSNP:rs1626450EnsemblClinVar. | 1 | |
Natural variantiVAR_031171 | 209 | I → T. Corresponds to variant dbSNP:rs16827883EnsemblClinVar. | 1 | |
Natural variantiVAR_031172 | 222 | R → H. Corresponds to variant dbSNP:rs3752780EnsemblClinVar. | 1 | |
Natural variantiVAR_069411 | 330 | D → N1 Publication | 1 | |
Natural variantiVAR_080499 | 343 | R → C in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs759799287EnsemblClinVar. | 1 | |
Natural variantiVAR_080500 | 446 | R → C in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753432312EnsemblClinVar. | 1 | |
Natural variantiVAR_080501 | 492 | G → R in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780265931EnsemblClinVar. | 1 | |
Natural variantiVAR_080502 | 520 | P → L in JBTS30; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167449EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023804 | 666 – 817 | Missing in isoform 2. 5 PublicationsAdd BLAST | 152 |
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 |
CCDSi | CCDS74666.1 [Q7Z3E5-1] |
RefSeqi | NP_001278585.1, NM_001291656.1 NP_079415.3, NM_025139.5 XP_011510213.1, XM_011511911.1 XP_016860512.1, XM_017005023.1 |
Genome annotation databases
Ensembli | ENST00000611582; ENSP00000484804; ENSG00000135931 |
GeneIDi | 80210 |
KEGGi | hsa:80210 |
MANE-Selecti | ENST00000611582.5; ENSP00000484804.1; NM_001352754.2; NP_001339683.2 |
UCSCi | uc002vrq.6, human [Q7Z3E5-1] uc032ovg.1, human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS74666.1 [Q7Z3E5-1] |
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 |
3D structure databases
SMRi | Q7Z3E5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123179, 15 interactors |
IntActi | Q7Z3E5, 4 interactors |
STRINGi | 9606.ENSP00000484804 |
PTM databases
iPTMneti | Q7Z3E5 |
PhosphoSitePlusi | Q7Z3E5 |
Genetic variation databases
BioMutai | ARMC9 |
DMDMi | 134035387 |
Proteomic databases
EPDi | Q7Z3E5 |
jPOSTi | Q7Z3E5 |
MassIVEi | Q7Z3E5 |
PaxDbi | Q7Z3E5 |
PeptideAtlasi | Q7Z3E5 |
PRIDEi | Q7Z3E5 |
ProteomicsDBi | 69042 [Q7Z3E5-1] 69043 [Q7Z3E5-2] |
Protocols and materials databases
Antibodypediai | 20202, 110 antibodies from 18 providers |
DNASUi | 80210 |
Genome annotation databases
Ensembli | ENST00000611582; ENSP00000484804; ENSG00000135931 |
GeneIDi | 80210 |
KEGGi | hsa:80210 |
MANE-Selecti | ENST00000611582.5; ENSP00000484804.1; NM_001352754.2; NP_001339683.2 |
UCSCi | uc002vrq.6, human [Q7Z3E5-1] uc032ovg.1, human |
Organism-specific databases
CTDi | 80210 |
DisGeNETi | 80210 |
GeneCardsi | ARMC9 |
HGNCi | HGNC:20730, ARMC9 |
HPAi | ENSG00000135931, Tissue enhanced (retina) |
MalaCardsi | ARMC9 |
MIMi | 617612, gene 617622, phenotype |
neXtProti | NX_Q7Z3E5 |
OpenTargetsi | ENSG00000135931 |
Orphaneti | 475, Joubert syndrome |
PharmGKBi | PA142672581 |
VEuPathDBi | HostDB:ENSG00000135931 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QQ9W, Eukaryota |
GeneTreei | ENSGT00390000018026 |
HOGENOMi | CLU_007962_1_0_1 |
InParanoidi | Q7Z3E5 |
OMAi | FMNLCLR |
OrthoDBi | 1327587at2759 |
PhylomeDBi | Q7Z3E5 |
TreeFami | TF317676 |
Enzyme and pathway databases
PathwayCommonsi | Q7Z3E5 |
SignaLinki | Q7Z3E5 |
Miscellaneous databases
BioGRID-ORCSi | 80210, 7 hits in 1037 CRISPR screens |
ChiTaRSi | ARMC9, human |
GeneWikii | ARMC9 |
GenomeRNAii | 80210 |
Pharosi | Q7Z3E5, Tbio |
PROi | PR:Q7Z3E5 |
RNActi | Q7Z3E5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135931, Expressed in pigmented layer of retina and 211 other tissues |
ExpressionAtlasi | Q7Z3E5, baseline and differential |
Genevisiblei | Q7Z3E5, HS |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR040369, ARMC9 IPR006594, LisH |
PANTHERi | PTHR14881, PTHR14881, 1 hit |
SMARTi | View protein in SMART SM00667, LisH, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS50896, LISH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ARMC9_HUMAN | |
Accessioni | Q7Z3E5Primary (citable) accession number: Q7Z3E5 Secondary accession number(s): A0A087X1I8 Q9H9R8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 20, 2007 |
Last sequence update: | March 28, 2018 | |
Last modified: | February 23, 2022 | |
This is version 144 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot