IGSF3_HUMAN » Immunoglobulin superfamily member 3

IGSF3_HUMAN » Immunoglobulin superfamily member 3
Magnify IGSF3_HUMAN » Immunoglobulin superfamily member 3Enlarged view of image
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
IGSF3_HUMAN » Immunoglobulin superfamily member 3 » EWI-3;
Hydrophobic Thickness 35.2 ± 2.8 Å
Tilt Angle 20 ± 5°
ΔGtransfer -31.8 kcal/mol
ΔGfold -18.4 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 1125-1150 (1123-1152)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 25-141, PDBID: 1P4B, Subunit L, Seq Identity:24%, Immunoglobulin V-set domain

AA: 150-265, PDBID: 1A2Y, Subunit A, Seq Identity:29%, Immunoglobulin V-set domain

AA: 684-806, PDBID: 3AB0, Subunit F, Seq Identity:25%, Immunoglobulin V-set domain

AA: 821-946, PDBID: 2BNQ, Subunit D, Seq Identity:26%, Immunoglobulin V-set domain

UniProt annotation for IGSF3_HUMAN » Immunoglobulin superfamily member 3
TISSUE SPECIFICITY: Expressed in a wide range of tissues with High expression in Placenta, kidney and lung.

DISEASE: Lacrimal duct defect (LCDD) OMIM: A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus. Note=The disease is caused by mutations affecting the gene represented in this entry.

MISCELLANEOUS: Likely interchromosomal Alu-mediated fusion between IGSF3 on 1p13.1 and GGT on 22q11.2. Breakpoints occurred inside Alu elements as well as in the 5" or 3" ends of them.

UniProt features for IGSF3_HUMAN » Immunoglobulin superfamily member 3
SIGNAL 1 19 Potential.
CHAIN 20 1194 Immunoglobulin superfamily member 3.
DOMAIN 20 138 Ig-like C2-type 1.
DOMAIN 143 262 Ig-like C2-type 2.
DOMAIN 276 386 Ig-like C2-type 3.
DOMAIN 401 539 Ig-like C2-type 4.
DOMAIN 545 661 Ig-like C2-type 5.
DOMAIN 676 803 Ig-like C2-type 6.
DOMAIN 813 945 Ig-like C2-type 7.
DOMAIN 949 1097 Ig-like C2-type 8.
MOTIF 250 252 EWI motif.
DISULFID 42 120 By similarity.
DISULFID 167 246 By similarity.
DISULFID 302 376 By similarity.
DISULFID 432 511 By similarity.
DISULFID 566 645 By similarity.
DISULFID 701 782 By similarity.
DISULFID 838 918 By similarity.
DISULFID 974 1080 By similarity.
Amino Acid Sequence for IGSF3_HUMAN » Immunoglobulin superfamily member 3
MKCFFPVLSC LAVLGVVSAQ RQVTVQEGPL YRTEGSHITI WCNVSGYQGP SEQNFQWSIY LPSSPEREVQ IVSTMDSSFP YAIYTQRVRG GKIFIERVQG NSTLLHITDL QARDAGEYEC HTPSTDKQYF GSYSAKMNLV VIPDSLQTTA MPQTLHRVEQ DPLELTCEVA SETIQHSHLS VAWLRQKVGE KPVEVISLSR DFMLHSSSEY AQRQSLGEVR LDKLGRTTFR LTIFHLQPSD QGEFYCEAAE WIQDPDGSWY AMTRKRSEGA VVNVQPTDKE FTVRLETEKR LHTVGEPVEF RCILEAQNVP DRYFAVSWAF NSSLIATMGP NAVPVLNSEF AHREARGQLK VAKESDSVFV LKIYHLRQED SGKYNCRVTE REKTVTGEFI DKESKRPKNI PIIVLPLKSS ISVEVASNAS VILEGEDLRF SCSVRTAGRP QGRFSVIWQL VDRQNRRSNI MWLDRDGTVQ PGSSYWERSS FGGVQMEQVQ PNSFSLGIFN SRKEDEGQYE CHVTEWVRAV DGEWQIVGER RASTPISITA LEMGFAVTAI SRTPGVTYSD SFDLQCIIKP HYPAWVPVSV TWRFQPVGTV EFHDLVTFTR DGGVQWGDRS SSFRTRTAIE KAESSNNVRL SISRASDTEA GKYQCVAELW RKNYNNTWTR LAERTSNLLE IRVLQPVTKL QVSKSKRTLT LVENKPIQLN CSVKSQTSQN SHFAVLWYVH KPSDADGKLI LKTTHNSAFE YGTYAEEEGL RARLQFERHV SGGLFSLTVQ RAEVSDSGSY YCHVEEWLLS PNYAWYKLAE EVSGRTEVTV KQPDSRLRLS QAQGNLSVLE TRQVQLECVV LNRTSITSQL MVEWFVWKPN HPERETVARL SRDATFHYGE QAAKNNLKGR LHLESPSPGV YRLFIQNVAV QDSGTYSCHV EEWLPSPSGM WYKRAEDTAG QTALTVMRPD ASLQVDTVVP NATVSEKAAF QLDCSIVSRS SQDSRFAVAW YSLRTKAGGK RSSPGLEEQE EEREEEEEED DDDDDDPTER TALLSVGPDA VFGPEGSPWE GRLRFQRLSP VLYRLTVLQA SPQDTGNYSC HVEEWLPSPQ KEWYRLTEEE SAPIGIRVLD TSPTLQSIIC SNDALFYFVF FYPFPIFGIL IITILLVRFK SRNSSKNSDG KNGVPLLWIK EPHLNYSPTC LEPPVLSIHP GAID