Seroatlas · Human Serome Atlas

IGSF1

Immunoglobulin superfamily member 1

Also known as: IGCD1, IGDC1, IGSF1_HUMAN, INHBP, KIAA0364, MGC75490, PGSF2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N6C5
Gene: IGSF1
Ensembl: ENSG00000147255
Chromosome: X
Canonical length: 1336 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Cytosol
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

1336 residues, UniProt reviewed canonical sequence.

>Q8N6C5|IGSF1
     1  MTLDRPGEGA TMLKTFTVLL FCIRMSLGMT SIVMDPQPEL WIESNYPQAP WENITLWCRS
    61  PSRISSKFLL LKDKTQMTWI RPSHKTFQVS FLIGALTESN AGLYRCCYWK ETGWSKPSKV
   121  LELEAPGQLP KPIFWIQAET PALPGCNVNI LCHGWLQDLV FMLFKEGYAE PVDYQVPTGT
   181  MAIFSIDNLT PEDEGVYICR THIQMLPTLW SEPSNPLKLV VAGLYPKPTL TAHPGPIMAP
   241  GESLNLRCQG PIYGMTFALM RVEDLEKSFY HKKTIKNEAN FFFQSLKIQD TGHYLCFYYD
   301  ASYRGSLLSD VLKIWVTDTF PKTWLLARPS AVVQMGQNVS LRCRGPVDGV GLALYKKGED
   361  KPLQFLDATS IDDNTSFFLN NVTYSDTGIY SCHYLLTWKT SIRMPSHNTV ELMVVDKPPK
   421  PSLSAWPSTV FKLGKAITLQ CRVSHPVLEF SLEWEERETF QKFSVNGDFI ISNVDGKGTG
   481  TYSCSYRVET HPNIWSHRSE PLKLMGPAGY LTWNYVLNEA IRLSLIMQLV ALLLVVLWIR
   541  WKCRRLRIRE AWLLGTAQGV TMLFIVTALL CCGLCNGVLI EETEIVMPTP KPELWAETNF
   601  PLAPWKNLTL WCRSPSGSTK EFVLLKDGTG WIATRPASEQ VRAAFPLGAL TQSHTGSYHC
   661  HSWEEMAVSE PSEALELVGT DILPKPVISA SPTIRGQELQ LRCKGWLAGM GFALYKEGEQ
   721  EPVQQLGAVG REAFFTIQRM EDKDEGNYSC RTHTEKRPFK WSEPSEPLEL VIKEMYPKPF
   781  FKTWASPVVT PGARVTFNCS TPHQHMSFIL YKDGSEIASS DRSWASPGAS AAHFLIISVG
   841  IGDGGNYSCR YYDFSIWSEP SDPVELVVTE FYPKPTLLAQ PGPVVFPGKS VILRCQGTFQ
   901  GMRFALLQEG AHVPLQFRSV SGNSADFLLH TVGAEDSGNY SCIYYETTMS NRGSYLSMPL
   961  MIWVTDTFPK PWLFAEPSSV VPMGQNVTLW CRGPVHGVGY ILHKEGEATS MQLWGSTSND
  1021  GAFPITNISG TSMGRYSCCY HPDWTSSIKI QPSNTLELLV TGLLPKPSLL AQPGPMVAPG
  1081  ENMTLQCQGE LPDSTFVLLK EGAQEPLEQQ RPSGYRADFW MPAVRGEDSG IYSCVYYLDS
  1141  TPFAASNHSD SLEIWVTDKP PKPSLSAWPS TMFKLGKDIT LQCRGPLPGV EFVLEHDGEE
  1201  APQQFSEDGD FVINNVEGKG IGNYSCSYRL QAYPDIWSEP SDPLELVGAA GPVAQECTVG
  1261  NIVRSSLIVV VVVALGVVLA IEWKKWPRLR TRGSETDGRD QTIALEECNQ EGEPGTPANS
  1321  PSSTSQRISV ELPVPI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IGSF1 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: Secreted
Secreted: Yes
Transmembrane segments: 2
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 380 nTPM

Expression across tissuesHPA

Tissue

pituitary gland: 380 nTPM
hypothalamus: 71 nTPM
heart muscle: 32 nTPM
midbrain: 32 nTPM
basal ganglia: 28 nTPM
testis: 18 nTPM

Single-cell type

pituitary stem cells: 219 nCPM
lactotrophs: 120 nCPM
somatotrophs: 78 nCPM
thyrotrophs: 62 nCPM
adrenal medulla cells: 43 nCPM
thymic myoid cells: 25 nCPM

Immune cell

basophil: 0.1 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

hypothalamus: 154 nTPM
pons: 47 nTPM
midbrain: 42 nTPM
medulla oblongata: 22 nTPM
thalamus: 20 nTPM
basal ganglia: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IGSF1.

Disease | AllUniProt

Conditions IGSF1 is implicated in, by any mechanism.

Hypothyroidism, central, and testicular enlargement (CHTE) MIM:300888

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 485 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

X-linked central congenital hypothyroidism with late-onset testicular enlargement
Inborn genetic diseases
Thyroid cancer, nonmedullary, 1
Pituitary hormone deficiency
Paediatric disorders

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): 0.21
gnomAD pLI: 1
gnomAD missense Z: 1.15
DepMap mean gene effect: 0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of IGSF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads IGSF1 as an antibody target. Whether an autoantibody or antibody against IGSF1 could matter depends on whether native IGSF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IGSF1 is annotated as secreted, so native IGSF1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label IGSF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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