KIRREL1

Protein identityUniProt · HPA

UniProt accession

Q96J84

Gene

KIRREL1

Ensembl

ENSG00000183853

Chromosome

1

Canonical length

757 aa

Protein class

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

Quaternary structure

Homodimer

OverviewNCBI Gene

NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

757 residues, UniProt reviewed canonical sequence.

>Q96J84|KIRREL1
     1  MLSLLVWILT LSDTFSQGTQ TRFSQEPADQ TVVAGQRAVL PCVLLNYSGI VQWTKDGLAL
    61  GMGQGLKAWP RYRVVGSADA GQYNLEITDA ELSDDASYEC QATEAALRSR RAKLTVLIPP
   121  EDTRIDGGPV ILLQAGTPHN LTCRAFNAKP AATIIWFRDG TQQEGAVAST ELLKDGKRET
   181  TVSQLLINPT DLDIGRVFTC RSMNEAIPSG KETSIELDVH HPPTVTLSIE PQTVQEGERV
   241  VFTCQATANP EILGYRWAKG GFLIEDAHES RYETNVDYSF FTEPVSCEVH NKVGSTNVST
   301  LVNVHFAPRI VVDPKPTTTD IGSDVTLTCV WVGNPPLTLT WTKKDSNMVL SNSNQLLLKS
   361  VTQADAGTYT CRAIVPRIGV AEREVPLYVN GPPIISSEAV QYAVRGDGGK VECFIGSTPP
   421  PDRIAWAWKE NFLEVGTLER YTVERTNSGS GVLSTLTINN VMEADFQTHY NCTAWNSFGP
   481  GTAIIQLEER EVLPVGIIAG ATIGASILLI FFFIALVFFL YRRRKGSRKD VTLRKLDIKV
   541  ETVNREPLTM HSDREDDTAS VSTATRVMKA IYSSFKDDVD LKQDLRCDTI DTREEYEMKD
   601  PTNGYYNVRA HEDRPSSRAV LYADYRAPGP ARFDGRPSSR LSHSSGYAQL NTYSRGPASD
   661  YGPEPTPPGP AAPAGTDTTS QLSYENYEKF NSHPFPGAAG YPTYRLGYPQ APPSGLERTP
   721  YEAYDPIGKY ATATRFSYTS QHSDYGQRFQ QRMQTHV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIRREL1 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)

0.44

Highest tissue expression

28 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIRREL1.

Disease | AllUniProt

Conditions KIRREL1 is implicated in, by any mechanism.

• Nephrotic syndrome 23 (NPHS23) MIM:619201

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 153 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Nephrotic syndrome, type 23

ReferencesPubMed · IEDB

Publications for KIRREL1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.25

gnomAD pLI

1

DepMap mean gene effect

0.15

DepMap dependency class

none

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

• cell-cell adhesion
• cell-cell junction maintenance
• glomerular filtration
• positive regulation of actin filament polymerization
• renal protein absorption

Molecular functions

• cell adhesion molecule binding
• myosin binding

Cellular components

• cell-cell junction
• dendritic shaft
• perinuclear region of cytoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Immunoglobulin I-set
• CD80-like, immunoglobulin C2-set
• Immunoglobulin-like fold
• Immunoglobulin-like domain superfamily
• Cellular adhesion and signaling domain-containing protein
• Immunoglobulin I-set domain
• CD80-like C2-set immunoglobulin domain
• Immunoglobulin domain

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Glycoprotein
• Immunoglobulin domain
• Membrane
• Phosphoprotein
• Repeat
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of KIRREL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TJP1
• NPHS2