IGS22_HUMAN
ID IGS22_HUMAN Reviewed; 903 AA.
AC Q8N9C0; A6NNA0; D6RGV7;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Immunoglobulin superfamily member 22;
DE Short=IgSF22;
GN Name=IGSF22;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ILE-414;
RP GLN-472 AND VAL-559.
RC TISSUE=Hippocampus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP VARIANT TRP-7.
RX PubMed=21248752; DOI=10.1038/nature09639;
RA Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H.,
RA Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J.,
RA Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M.,
RA Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L.,
RA Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J.,
RA Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A.,
RA Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K.,
RA Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.;
RT "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene
RT PBRM1 in renal carcinoma.";
RL Nature 469:539-542(2011).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9C0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9C0-2; Sequence=VSP_047394, VSP_047395;
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DR EMBL; AK095113; BAC04488.1; -; mRNA.
DR EMBL; AC103974; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS41625.2; -. [Q8N9C0-2]
DR RefSeq; NP_775859.3; NM_173588.3. [Q8N9C0-2]
DR RefSeq; XP_016873097.1; XM_017017608.1. [Q8N9C0-2]
DR AlphaFoldDB; Q8N9C0; -.
DR SMR; Q8N9C0; -.
DR IntAct; Q8N9C0; 1.
DR MINT; Q8N9C0; -.
DR GlyGen; Q8N9C0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N9C0; -.
DR PhosphoSitePlus; Q8N9C0; -.
DR BioMuta; IGSF22; -.
DR DMDM; 146324946; -.
DR jPOST; Q8N9C0; -.
DR MassIVE; Q8N9C0; -.
DR PeptideAtlas; Q8N9C0; -.
DR PRIDE; Q8N9C0; -.
DR Antibodypedia; 64069; 19 antibodies from 7 providers.
DR DNASU; 283284; -.
DR Ensembl; ENST00000319338.6; ENSP00000322422.6; ENSG00000179057.14. [Q8N9C0-1]
DR Ensembl; ENST00000513874.6; ENSP00000421191.1; ENSG00000179057.14. [Q8N9C0-2]
DR GeneID; 283284; -.
DR KEGG; hsa:283284; -.
DR MANE-Select; ENST00000513874.6; ENSP00000421191.1; NM_173588.4; NP_775859.4. [Q8N9C0-2]
DR UCSC; uc009yht.3; human. [Q8N9C0-1]
DR CTD; 283284; -.
DR DisGeNET; 283284; -.
DR GeneCards; IGSF22; -.
DR HGNC; HGNC:26750; IGSF22.
DR HPA; ENSG00000179057; Tissue enhanced (brain, skin).
DR neXtProt; NX_Q8N9C0; -.
DR OpenTargets; ENSG00000179057; -.
DR PharmGKB; PA142671662; -.
DR VEuPathDB; HostDB:ENSG00000179057; -.
DR GeneTree; ENSGT00940000160123; -.
DR HOGENOM; CLU_006405_2_0_1; -.
DR InParanoid; Q8N9C0; -.
DR OMA; ITKSKNH; -.
DR OrthoDB; 103399at2759; -.
DR PhylomeDB; Q8N9C0; -.
DR TreeFam; TF351819; -.
DR PathwayCommons; Q8N9C0; -.
DR SignaLink; Q8N9C0; -.
DR BioGRID-ORCS; 283284; 6 hits in 1061 CRISPR screens.
DR GenomeRNAi; 283284; -.
DR Pharos; Q8N9C0; Tdark.
DR PRO; PR:Q8N9C0; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8N9C0; protein.
DR Bgee; ENSG00000179057; Expressed in skin of leg and 111 other tissues.
DR Genevisible; Q8N9C0; HS.
DR CDD; cd00063; FN3; 2.
DR Gene3D; 2.60.40.10; -; 8.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR InterPro; IPR040849; MyBP-C_THB.
DR Pfam; PF00041; fn3; 2.
DR Pfam; PF07679; I-set; 5.
DR Pfam; PF18362; THB; 1.
DR SMART; SM00060; FN3; 2.
DR SMART; SM00409; IG; 6.
DR SMART; SM00408; IGc2; 5.
DR SUPFAM; SSF48726; SSF48726; 6.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 2.
DR PROSITE; PS50835; IG_LIKE; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; Immunoglobulin domain; Reference proteome; Repeat.
FT CHAIN 1..903
FT /note="Immunoglobulin superfamily member 22"
FT /id="PRO_0000285255"
FT DOMAIN 67..158
FT /note="Ig-like 1"
FT DOMAIN 232..322
FT /note="Ig-like 2"
FT DOMAIN 418..508
FT /note="Ig-like 3"
FT DOMAIN 606..696
FT /note="Ig-like 4"
FT DOMAIN 703..798
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 804..898
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT VAR_SEQ 698
FT /note="L -> LDRPKPPQGRVEFLELSGSCVHMKWKAPKDNGGRPVTQFIVERRAVG
FT KKSWIKIGEVDGKVTNFSTNKVEEGKAYQFRILAVNSEGVSDPLETEEVFAGNPI (in
FT isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_047394"
FT VAR_SEQ 899..903
FT /note="GLTTT -> AAPKFDLSARLKSHMVVRAGTALCIHAAFSGSPPPDVIWQKDG
FT VPTKGRETITKSKNHSQFLINSTKRSDSGVYRILLQNEFGEARYDIHVRVADFPRPPTN
FT LRLFEEVPNTVTLTWNHSPDVQEDGEAHYIIMKRDASTATWYTAAERVFSNKYTVTGLL
FT PGRKYYFRVVARNEIGDSEPLDSRDTWLINKDQIQDLSAKLKPYEKKDWRHAPRFVTPL
FT KPHTVLRGQDCTMTCAFLGNPRPTVTLYKGDVNITANSKFWYNSTSGVCTLVIPTCTLK
FT DSGDYSVLVENELGKDRSSCTLTVYDKDDKSVVASITESLQKKSKHLM (in
FT isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_047395"
FT VARIANT 7
FT /note="R -> W (found in a renal cell carcinoma sample;
FT somatic mutation; dbSNP:rs117464001)"
FT /evidence="ECO:0000269|PubMed:21248752"
FT /id="VAR_064722"
FT VARIANT 94
FT /note="A -> P (in dbSNP:rs10832975)"
FT /id="VAR_032000"
FT VARIANT 130
FT /note="L -> R (in dbSNP:rs3740710)"
FT /id="VAR_032001"
FT VARIANT 414
FT /note="V -> I (in dbSNP:rs10766494)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_032002"
FT VARIANT 472
FT /note="R -> Q (in dbSNP:rs4424652)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_032003"
FT VARIANT 503
FT /note="S -> I (in dbSNP:rs3887899)"
FT /id="VAR_032004"
FT VARIANT 559
FT /note="M -> V (in dbSNP:rs7125943)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_032005"
FT VARIANT 677
FT /note="L -> F (in dbSNP:rs11024769)"
FT /id="VAR_032006"
FT CONFLICT 69
FT /note="F -> L (in Ref. 1; BAC04488)"
FT /evidence="ECO:0000305"
FT CONFLICT 210
FT /note="Y -> H (in Ref. 1; BAC04488)"
FT /evidence="ECO:0000305"
FT CONFLICT 839
FT /note="R -> W (in Ref. 1; BAC04488)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 903 AA; 100400 MW; 0564F44686C144F5 CRC64;
MTTIHSRQML QEHVSMEFSS STTHVQTFSQ TTKIVGEEVV RRKSSSIVEF FSLVTRSSNI
PAGDSVPEFV EKPQPVTAPE GDKAVFRARV QGNAKPHISW KRESGIPIKE SAKIFYDSIN
KEHVLKLEPL TSDDSDNYKC IASNDHADAI YTVSLLVTEG QEKMDFKKML KKRAPPAPKK
KQKKVANEKE MLEILSKVPK KDFEKVCMEY GFTDFRGLLR KLKEMKKKVE VEAIRILKPL
EDKETKVDTT VVFDCIMELK DPNVKMIWIK GTEPLRIQYS LGKYDVKQMG TKYMLVISNV
NMNDAGIYSL SVGDKRMSAE LTVLDEPLKF LGEMKPVKVT ERQTAVFEIR LSKKEPNFVW
KFNGKELKRD DKYEITVSED GLTHTLKIKD ARLSDSGEFS AEAGNLVQKA QLTVDRIPIK
FVSNLKNVRV KERSRACLEC ELTSKDVTLR WKKDGQLLMH GTKYSMNHEG KRAELIIEDA
QLSDGGEYTV VAMQDGDPTE YYSTAIVTVE ERLATVKSGM SDVHAATGSP AELCVVLNDE
KVEGVWLKDG KEITDLPGMQ IVKQGAVHKL IFPSMGPEHE GKYTFRAKGT ESEASVFIAD
PPTIDPSVLE ALAAHAITVK VGHTAHIKVP FRGKPLPKVT WYKDGMEVTE EERVSMERGE
DQALLTISNC VREDSGLILL KLKNDHGSAT ATLHLSVLEP PGFASQPQVT DVTKEAVTIT
WNAPTQDGGA PVLGYIVERR KKGSNLWVPV NKDPIQGTKC TVDGLLEDTE YEFRVIAVNK
AGPGQPSVPS SSVVAKDPVK PPGLVQDLHV SDSSNSSISL AWREPAEGDP PSGYILEMRA
EDTKEWSKCT KIPISGTCYT VGGLIERQKY FFRIRAVNEA GVGEPVELDK GVRAMPPPGL
TTT
