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Q7Z3E5 (ARMC9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
LisH domain-containing protein ARMC9
Alternative name(s):
Melanoma/melanocyte-specific tumor antigen KU-MEL-1
NS21
Gene names
Name:ARMC9
Synonyms:KIAA1868
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length817 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

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

Sequence similarities

Contains 1 LisH domain.

Sequence caution

The sequence BAB14153.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentextracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z3E5-1)

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.
Isoform 2 (identifier: Q7Z3E5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     666-817: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 817817LisH domain-containing protein ARMC9
PRO_0000280595

Regions

Domain7 – 3933LisH
Coiled coil204 – 23027 Potential
Compositional bias708 – 7114Poly-Ser

Amino acid modifications

Modified residue5821Phosphoserine Ref.8

Natural variations

Alternative sequence666 – 817152Missing in isoform 2.
VSP_023804
Natural variant1081L → F. Ref.5
Corresponds to variant rs11558175 [ dbSNP | Ensembl ].
VAR_031170
Natural variant1801I → V.
Corresponds to variant rs1626450 [ dbSNP | Ensembl ].
VAR_056739
Natural variant2091I → T.
Corresponds to variant rs16827883 [ dbSNP | Ensembl ].
VAR_031171
Natural variant2221R → H.
Corresponds to variant rs3752780 [ dbSNP | Ensembl ].
VAR_031172
Natural variant3301D → N. Ref.9
VAR_069411

Experimental info

Sequence conflict1801I → E in AAX22760. Ref.1
Sequence conflict1801I → E in AAO63554. Ref.2
Sequence conflict1801I → E in CAD97923. Ref.3
Sequence conflict1801I → E in AAH04514. Ref.5
Sequence conflict1801I → E in AAH65271. Ref.5
Sequence conflict1801I → E in BAB14153. Ref.6
Sequence conflict4361L → P in AAO63554. Ref.2
Sequence conflict7341T → TG in BAB47497. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 20, 2007. Version 2.
Checksum: 8FC581F7B3217116

FASTA81791,762
        10         20         30         40         50         60 
MGDILAHESE LLGLVKEYLD FAEFEDTLKT FSKECKIKGK PLCKTVGGSF RDSKSLTIQK 

        70         80         90        100        110        120 
DLVAAFDNGD QKVFFDLWEE HISSSIRDGD SFAQKLEFYL HIHFAIYLLK YSVGRPDKEE 

       130        140        150        160        170        180 
LDEKISYFKT YLETKGAALS QTTEFLPFYA LPFVPNPMVH PSFKELFQDS WTPELKLKLI 

       190        200        210        220        230        240 
KFLALISKAS NTPKLLTIYK ENGQSNKEIL QQLHQQLVEA ERRSVTYLKR YNKIQADYHN 

       250        260        270        280        290        300 
LIGVTAELVD SLEATVSGKM ITPEYLQSVC VRLFSNQMRQ SLAHSVDFTR PGTASTMLRA 

       310        320        330        340        350        360 
SLAPVKLKDV PLLPSLDYEK LKKDLILGSD RLKAFLLQAL RWRLTTSHPG EQRETVLQAY 

       370        380        390        400        410        420 
ISNDLLDCYS HNQRSVLQLL HSTSDVVRQY MARLINAFAS LAEGRLYLAQ NTKVLQMLEG 

       430        440        450        460        470        480 
RLKEEDKDII TRENVLGALQ KFSLRRPLQT AMIQDGLIFW LVDVLKDPDC LSDYTLEYSV 

       490        500        510        520        530        540 
ALLMNLCLRS TGKNMCAKVA GLVLKVLSDL LGHENHEIQP YVNGALYSIL SVPSIREEAR 

       550        560        570        580        590        600 
AMGMEDILRC FIKEGNAEMI RQIEFIIKQL NSEELPDGVL ESDDDEDEDD EEDHDIMEAD 

       610        620        630        640        650        660 
LDKDELIQPQ LGELSGEKLL TTEYLGIMTN TGKTRRKGLA NVQWSGDEPL QRPVTPGGHR 

       670        680        690        700        710        720 
NGYPVVEDQH TPPQTAQHAR NGHPQALPAA HEAVYREGKP STPESCVSSS SAIIAKPGEW 

       730        740        750        760        770        780 
LPRGRQEEPR PAPTTPRQPR EAPQDPGNGV TTRECASAFT CKPRAPCTPE MLDWNPPKAK 

       790        800        810 
ASVLAPLFSS CGPQQASRPG STASSTRGLP SSQSHRK 

« Hide

Isoform 2 [UniParc].

Checksum: 6B59EB1CE6E2CE1F
Show »

FASTA66575,579

References

« Hide 'large scale' references
[1]"Tumor antigens isolated from a patient with vitiligo and T-cell-infiltrated melanoma."
Kiniwa Y., Fujita T., Akada M., Ito K., Shofuda T., Suzuki Y., Yamamoto A., Saida T., Kawakami Y.
Cancer Res. 61:7900-7907(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[2]"Cloning and characterization of a novel ARM protein."
Chen J., Lu Y., Xie Y.
Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Esophageal carcinoma.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT PHE-108.
Tissue: Ovary and Skin.
[6]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 36-817 (ISOFORM 2).
[7]"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 356-817 (ISOFORM 1).
Tissue: Brain.
[8]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-582, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.
N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASN-330.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
BC004514 mRNA. Translation: AAH04514.2.
BC065271 mRNA. Translation: AAH65271.1.
AK022646 mRNA. Translation: BAB14153.1. Different initiation.
AB058771 mRNA. Translation: BAB47497.1.
RefSeqNP_001258395.1. NM_001271466.1.
NP_079415.3. NM_025139.4.
UniGeneHs.471610.

3D structure databases

ProteinModelPortalQ7Z3E5.
SMRQ7Z3E5. Positions 375-521.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123179. 7 interactions.
STRING9606.ENSP00000258417.

PTM databases

PhosphoSiteQ7Z3E5.

Polymorphism databases

DMDM134035387.

Proteomic databases

PaxDbQ7Z3E5.
PRIDEQ7Z3E5.

Protocols and materials databases

DNASU80210.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000349938; ENSP00000258417; ENSG00000135931. [Q7Z3E5-2]
GeneID80210.
KEGGhsa:80210.
UCSCuc002vrp.5. human. [Q7Z3E5-1]

Organism-specific databases

CTD80210.
GeneCardsGC02P232064.
H-InvDBHIX0002915.
HGNCHGNC:20730. ARMC9.
HPAHPA019041.
HPA026671.
neXtProtNX_Q7Z3E5.
PharmGKBPA142672581.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG80009.
HOVERGENHBG080866.
InParanoidQ7Z3E5.
OMAKPLCKTV.
OrthoDBEOG7DC23S.
PhylomeDBQ7Z3E5.
TreeFamTF317676.

Gene expression databases

ArrayExpressQ7Z3E5.
BgeeQ7Z3E5.
CleanExHS_ARMC9.
GenevestigatorQ7Z3E5.

Family and domain databases

Gene3D1.25.10.10. 3 hits.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR006594. LisH_dimerisation.
[Graphical view]
SMARTSM00667. LisH. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
PROSITEPS50896. LISH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiARMC9.
GenomeRNAi80210.
NextBio70600.
PROQ7Z3E5.

Entry information

Entry nameARMC9_HUMAN
AccessionPrimary (citable) accession number: Q7Z3E5
Secondary accession number(s): Q53TI3 expand/collapse secondary AC list , Q6P162, Q7L594, Q86WG2, Q96JF9, Q9H9R8
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: April 16, 2014
This is version 82 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM