IGSF3

Protein identityUniProt · HPA

UniProt accession

O75054

Gene

IGSF3

Ensembl

ENSG00000143061

Chromosome

1

Canonical length

1194 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]

Canonical amino-acid sequenceUniProt

1194 residues, UniProt reviewed canonical sequence.

>O75054|IGSF3
     1  MKCFFPVLSC LAVLGVVSAQ RQVTVQEGPL YRTEGSHITI WCNVSGYQGP SEQNFQWSIY
    61  LPSSPEREVQ IVSTMDSSFP YAIYTQRVRG GKIFIERVQG NSTLLHITDL QARDAGEYEC
   121  HTPSTDKQYF GSYSAKMNLV VIPDSLQTTA MPQTLHRVEQ DPLELTCEVA SETIQHSHLS
   181  VAWLRQKVGE KPVEVISLSR DFMLHSSSEY AQRQSLGEVR LDKLGRTTFR LTIFHLQPSD
   241  QGEFYCEAAE WIQDPDGSWY AMTRKRSEGA VVNVQPTDKE FTVRLETEKR LHTVGEPVEF
   301  RCILEAQNVP DRYFAVSWAF NSSLIATMGP NAVPVLNSEF AHREARGQLK VAKESDSVFV
   361  LKIYHLRQED SGKYNCRVTE REKTVTGEFI DKESKRPKNI PIIVLPLKSS ISVEVASNAS
   421  VILEGEDLRF SCSVRTAGRP QGRFSVIWQL VDRQNRRSNI MWLDRDGTVQ PGSSYWERSS
   481  FGGVQMEQVQ PNSFSLGIFN SRKEDEGQYE CHVTEWVRAV DGEWQIVGER RASTPISITA
   541  LEMGFAVTAI SRTPGVTYSD SFDLQCIIKP HYPAWVPVSV TWRFQPVGTV EFHDLVTFTR
   601  DGGVQWGDRS SSFRTRTAIE KAESSNNVRL SISRASDTEA GKYQCVAELW RKNYNNTWTR
   661  LAERTSNLLE IRVLQPVTKL QVSKSKRTLT LVENKPIQLN CSVKSQTSQN SHFAVLWYVH
   721  KPSDADGKLI LKTTHNSAFE YGTYAEEEGL RARLQFERHV SGGLFSLTVQ RAEVSDSGSY
   781  YCHVEEWLLS PNYAWYKLAE EVSGRTEVTV KQPDSRLRLS QAQGNLSVLE TRQVQLECVV
   841  LNRTSITSQL MVEWFVWKPN HPERETVARL SRDATFHYGE QAAKNNLKGR LHLESPSPGV
   901  YRLFIQNVAV QDSGTYSCHV EEWLPSPSGM WYKRAEDTAG QTALTVMRPD ASLQVDTVVP
   961  NATVSEKAAF QLDCSIVSRS SQDSRFAVAW YSLRTKAGGK RSSPGLEEQE EEREEEEEED
  1021  DDDDDDPTER TALLSVGPDA VFGPEGSPWE GRLRFQRLSP VLYRLTVLQA SPQDTGNYSC
  1081  HVEEWLPSPQ KEWYRLTEEE SAPIGIRVLD TSPTLQSIIC SNDALFYFVF FYPFPIFGIL
  1141  IITILLVRFK SRNSSKNSDG KNGVPLLWIK EPHLNYSPTC LEPPVLSIHP GAID

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IGSF3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

22 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IGSF3.

Disease | AllUniProt

Conditions IGSF3 is implicated in, by any mechanism.

• Lacrimal duct defect (LCDD) MIM:149700

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 215 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Familial congenital nasolacrimal duct obstruction

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.37

gnomAD pLI

0.26

gnomAD missense Z

1.77

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• lacrimal gland development

Cellular components

• cell surface
• membrane

Protein domainsUniProt · Pfam · InterPro

• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Immunoglobulin V-set domain
• Immunoglobulin-like fold
• Immunoglobulin-like domain superfamily
• Immunoglobulin superfamily V-set and transmembrane domain-containing protein
• Immunoglobulin V-set domain

KeywordsUniProt

• Chromosomal rearrangement
• Disulfide bond
• Glycoprotein
• Immunoglobulin domain
• Membrane
• Repeat
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of IGSF3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FBXO6