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Q8N9C0 (IGS22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 96. 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:
Immunoglobulin superfamily member 22

Short name=IgSF22
Gene names
Name:IGSF22
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length903 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Contains 2 fibronectin type-III domains.

Contains 4 Ig-like (immunoglobulin-like) domains.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainImmunoglobulin domain
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N9C0-1)

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: Q8N9C0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     698-698: L → LDRPKPPQGR...TEEVFAGNPI
     899-903: GLTTT → AAPKFDLSAR...SLQKKSKHLM
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 903903Immunoglobulin superfamily member 22
PRO_0000285255

Regions

Domain67 – 15892Ig-like 1
Domain232 – 32291Ig-like 2
Domain418 – 50891Ig-like 3
Domain606 – 69691Ig-like 4
Domain703 – 79896Fibronectin type-III 1
Domain804 – 89895Fibronectin type-III 2
Compositional bias163 – 22866Lys-rich

Natural variations

Alternative sequence6981L → LDRPKPPQGRVEFLELSGSC VHMKWKAPKDNGGRPVTQFI VERRAVGKKSWIKIGEVDGK VTNFSTNKVEEGKAYQFRIL AVNSEGVSDPLETEEVFAGN PI in isoform 2.
VSP_047394
Alternative sequence899 – 9035GLTTT → AAPKFDLSARLKSHMVVRAG TALCIHAAFSGSPPPDVIWQ KDGVPTKGRETITKSKNHSQ FLINSTKRSDSGVYRILLQN EFGEARYDIHVRVADFPRPP TNLRLFEEVPNTVTLTWNHS PDVQEDGEAHYIIMKRDAST ATWYTAAERVFSNKYTVTGL LPGRKYYFRVVARNEIGDSE PLDSRDTWLINKDQIQDLSA KLKPYEKKDWRHAPRFVTPL KPHTVLRGQDCTMTCAFLGN PRPTVTLYKGDVNITANSKF WYNSTSGVCTLVIPTCTLKD SGDYSVLVENELGKDRSSCT LTVYDKDDKSVVASITESLQ KKSKHLM in isoform 2.
VSP_047395
Natural variant71R → W Found in a renal cell carcinoma sample; somatic mutation. Ref.3
VAR_064722
Natural variant941A → P.
Corresponds to variant rs10832975 [ dbSNP | Ensembl ].
VAR_032000
Natural variant1301L → R.
Corresponds to variant rs3740710 [ dbSNP | Ensembl ].
VAR_032001
Natural variant4141V → I. Ref.1
Corresponds to variant rs10766494 [ dbSNP | Ensembl ].
VAR_032002
Natural variant4721R → Q. Ref.1
Corresponds to variant rs4424652 [ dbSNP | Ensembl ].
VAR_032003
Natural variant5031S → I.
Corresponds to variant rs3887899 [ dbSNP | Ensembl ].
VAR_032004
Natural variant5591M → V. Ref.1
Corresponds to variant rs7125943 [ dbSNP | Ensembl ].
VAR_032005
Natural variant6771L → F.
Corresponds to variant rs11024769 [ dbSNP | Ensembl ].
VAR_032006

Experimental info

Sequence conflict691F → L in BAC04488. Ref.1
Sequence conflict2101Y → H in BAC04488. Ref.1
Sequence conflict8391R → W in BAC04488. Ref.1

Sequences

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

Last modified May 1, 2007. Version 2.
Checksum: 0564F44686C144F5

FASTA903100,400
        10         20         30         40         50         60 
MTTIHSRQML QEHVSMEFSS STTHVQTFSQ TTKIVGEEVV RRKSSSIVEF FSLVTRSSNI 

        70         80         90        100        110        120 
PAGDSVPEFV EKPQPVTAPE GDKAVFRARV QGNAKPHISW KRESGIPIKE SAKIFYDSIN 

       130        140        150        160        170        180 
KEHVLKLEPL TSDDSDNYKC IASNDHADAI YTVSLLVTEG QEKMDFKKML KKRAPPAPKK 

       190        200        210        220        230        240 
KQKKVANEKE MLEILSKVPK KDFEKVCMEY GFTDFRGLLR KLKEMKKKVE VEAIRILKPL 

       250        260        270        280        290        300 
EDKETKVDTT VVFDCIMELK DPNVKMIWIK GTEPLRIQYS LGKYDVKQMG TKYMLVISNV 

       310        320        330        340        350        360 
NMNDAGIYSL SVGDKRMSAE LTVLDEPLKF LGEMKPVKVT ERQTAVFEIR LSKKEPNFVW 

       370        380        390        400        410        420 
KFNGKELKRD DKYEITVSED GLTHTLKIKD ARLSDSGEFS AEAGNLVQKA QLTVDRIPIK 

       430        440        450        460        470        480 
FVSNLKNVRV KERSRACLEC ELTSKDVTLR WKKDGQLLMH GTKYSMNHEG KRAELIIEDA 

       490        500        510        520        530        540 
QLSDGGEYTV VAMQDGDPTE YYSTAIVTVE ERLATVKSGM SDVHAATGSP AELCVVLNDE 

       550        560        570        580        590        600 
KVEGVWLKDG KEITDLPGMQ IVKQGAVHKL IFPSMGPEHE GKYTFRAKGT ESEASVFIAD 

       610        620        630        640        650        660 
PPTIDPSVLE ALAAHAITVK VGHTAHIKVP FRGKPLPKVT WYKDGMEVTE EERVSMERGE 

       670        680        690        700        710        720 
DQALLTISNC VREDSGLILL KLKNDHGSAT ATLHLSVLEP PGFASQPQVT DVTKEAVTIT 

       730        740        750        760        770        780 
WNAPTQDGGA PVLGYIVERR KKGSNLWVPV NKDPIQGTKC TVDGLLEDTE YEFRVIAVNK 

       790        800        810        820        830        840 
AGPGQPSVPS SSVVAKDPVK PPGLVQDLHV SDSSNSSISL AWREPAEGDP PSGYILEMRA 

       850        860        870        880        890        900 
EDTKEWSKCT KIPISGTCYT VGGLIERQKY FFRIRAVNEA GVGEPVELDK GVRAMPPPGL 


TTT 

« Hide

Isoform 2 [UniParc].

Checksum: E7F3975084D7B9A4
Show »

FASTA1,326147,994

References

« Hide 'large scale' references
[1]"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] (ISOFORM 1), VARIANTS ILE-414; GLN-472 AND VAL-559.
Tissue: Hippocampus.
[2]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma."
Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. expand/collapse author list , Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.
Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT TRP-7.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK095113 mRNA. Translation: BAC04488.1.
AC103974 Genomic DNA. No translation available.
RefSeqNP_775859.3. NM_173588.3.
UniGeneHs.434152.

3D structure databases

ProteinModelPortalQ8N9C0.
SMRQ8N9C0. Positions 67-157, 231-894.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129517. 1 interaction.
IntActQ8N9C0. 1 interaction.
MINTMINT-7969147.

PTM databases

PhosphoSiteQ8N9C0.

Polymorphism databases

DMDM146324946.

Proteomic databases

PaxDbQ8N9C0.
PRIDEQ8N9C0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000319338; ENSP00000322422; ENSG00000179057. [Q8N9C0-1]
ENST00000513874; ENSP00000421191; ENSG00000179057. [Q8N9C0-2]
GeneID283284.
KEGGhsa:283284.

Organism-specific databases

CTD283284.
GeneCardsGC11M018683.
HGNCHGNC:26750. IGSF22.
HPACAB026459.
neXtProtNX_Q8N9C0.
PharmGKBPA142671662.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000113015.
InParanoidQ8N9C0.
OMAGRETITK.
OrthoDBEOG7GTT2T.
PhylomeDBQ8N9C0.
TreeFamTF351819.

Gene expression databases

ArrayExpressQ8N9C0.
BgeeQ8N9C0.
CleanExHS_IGSF22.
GenevestigatorQ8N9C0.

Family and domain databases

Gene3D2.60.40.10. 8 hits.
InterProIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
[Graphical view]
PfamPF00041. fn3. 2 hits.
PF07679. I-set. 5 hits.
[Graphical view]
SMARTSM00060. FN3. 2 hits.
SM00409. IG. 6 hits.
[Graphical view]
SUPFAMSSF49265. SSF49265. 1 hit.
PROSITEPS50853. FN3. 2 hits.
PS50835. IG_LIKE. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi283284.
NextBio35494643.
PROQ8N9C0.

Entry information

Entry nameIGS22_HUMAN
AccessionPrimary (citable) accession number: Q8N9C0
Secondary accession number(s): A6NNA0, D6RGV7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: April 16, 2014
This is version 96 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 11

Human chromosome 11: entries, gene names and cross-references to MIM