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Protein

LisH domain-containing protein ARMC9

Gene

ARMC9

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

Functioni

Required for ciliogenesis.By similarity

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Names & Taxonomyi

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
Gene namesi
Name:ARMC9Imported
Synonyms:KIAA1868
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000135931.17
HGNCiHGNC:20730 ARMC9
MIMi617612 gene
neXtProtiNX_Q7Z3E5

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

Pathology & Biotechi

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
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

DisGeNETi80210
MalaCardsiARMC9
MIMi617622 phenotype
OpenTargetsiENSG00000135931
Orphaneti475 Joubert syndrome
PharmGKBiPA142672581

Polymorphism and mutation databases

DMDMi134035387

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002805951 – 818LisH domain-containing protein ARMC9Add BLAST818

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei582PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7Z3E5
MaxQBiQ7Z3E5
PaxDbiQ7Z3E5
PeptideAtlasiQ7Z3E5
PRIDEiQ7Z3E5
ProteomicsDBi69042
69043 [Q7Z3E5-2]

PTM databases

iPTMnetiQ7Z3E5
PhosphoSitePlusiQ7Z3E5

Expressioni

Tissue specificityi

Strongly expressed in most melanomas and melanocytes. Weakly expressed in the testis.1 Publication

Inductioni

Up-regulated in response to serum starvation in fibroblasts.1 Publication

Gene expression databases

BgeeiENSG00000135931 Expressed in 200 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_ARMC9
ExpressionAtlasiQ7Z3E5 baseline and differential
GenevisibleiQ7Z3E5 HS

Organism-specific databases

HPAiHPA019041
HPA026671

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi123179, 9 interactors
IntActiQ7Z3E5, 3 interactors
STRINGi9606.ENSP00000258417

Structurei

3D structure databases

ProteinModelPortaliQ7Z3E5
SMRiQ7Z3E5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 39LisHPROSITE-ProRule annotationAdd BLAST33

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili204 – 230Sequence analysisAdd BLAST27

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi708 – 711Poly-Ser4

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGND Eukaryota
ENOG410YSH6 LUCA
GeneTreeiENSGT00390000018026
HOVERGENiHBG080866
InParanoidiQ7Z3E5
KOiK22864
OMAiGRPDKED
OrthoDBiEOG091G04U2
PhylomeDBiQ7Z3E5
TreeFamiTF317676

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR006594 LisH
SMARTiView protein in SMART
SM00667 LisH, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50896 LISH, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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
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

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:
C9JW07C9JW07_HUMAN
LisH domain-containing protein ARMC...
ARMC9
166Annotation score:
C9J535C9J535_HUMAN
LisH domain-containing protein ARMC...
ARMC9
158Annotation score:
H7BZA2H7BZA2_HUMAN
LisH domain-containing protein ARMC...
ARMC9
172Annotation score:
H7C3U7H7C3U7_HUMAN
LisH domain-containing protein ARMC...
ARMC9
194Annotation score:
H7BZY2H7BZY2_HUMAN
LisH domain-containing protein ARMC...
ARMC9
208Annotation score:
H7C2P6H7C2P6_HUMAN
LisH domain-containing protein ARMC...
ARMC9
73Annotation score:

Sequence cautioni

The sequence BAB14153 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Alternative sequenceiVSP_023804666 – 817Missing in isoform 2. 5 PublicationsAdd BLAST152

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

Genome annotation databases

EnsembliENST00000611582; ENSP00000484804; ENSG00000135931 [Q7Z3E5-1]
ENST00000614261; ENSP00000484241; ENSG00000135931 [Q7Z3E5-1]
GeneIDi80210
KEGGihsa:80210
UCSCiuc002vrq.6 human [Q7Z3E5-1]
uc032ovg.1 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
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

DMDMi134035387

Proteomic databases

EPDiQ7Z3E5
MaxQBiQ7Z3E5
PaxDbiQ7Z3E5
PeptideAtlasiQ7Z3E5
PRIDEiQ7Z3E5
ProteomicsDBi69042
69043 [Q7Z3E5-2]

Protocols and materials databases

DNASUi80210
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

CTDi80210
DisGeNETi80210
EuPathDBiHostDB:ENSG00000135931.17
GeneCardsiARMC9
H-InvDBiHIX0002915
HGNCiHGNC:20730 ARMC9
HPAiHPA019041
HPA026671
MalaCardsiARMC9
MIMi617612 gene
617622 phenotype
neXtProtiNX_Q7Z3E5
OpenTargetsiENSG00000135931
Orphaneti475 Joubert syndrome
PharmGKBiPA142672581
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGND Eukaryota
ENOG410YSH6 LUCA
GeneTreeiENSGT00390000018026
HOVERGENiHBG080866
InParanoidiQ7Z3E5
KOiK22864
OMAiGRPDKED
OrthoDBiEOG091G04U2
PhylomeDBiQ7Z3E5
TreeFamiTF317676

Miscellaneous databases

ChiTaRSiARMC9 human
GeneWikiiARMC9
GenomeRNAii80210
PROiPR:Q7Z3E5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135931 Expressed in 200 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_ARMC9
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
IPR006594 LisH
SMARTiView protein in SMART
SM00667 LisH, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50896 LISH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiARMC9_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3E5
Secondary accession number(s): A0A087X1I8
, Q53TI3, Q6P162, Q7L594, Q86WG2, Q96JF9, Q9H9R8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 28, 2018
Last modified: November 7, 2018
This is version 123 of the entry and version 3 of the sequence. See 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 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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