IVNS1ABP

Protein identityUniProt · HPA

UniProt accession

Q9Y6Y0

Gene

IVNS1ABP

Ensembl

ENSG00000116679

Chromosome

1

Canonical length

642 aa

Protein class

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

Subcellular location

Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in RNA splicing; negative regulation of protein ubiquitination; and response to virus. Located in cytosol. Implicated in immunodeficiency 70. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

642 residues, UniProt reviewed canonical sequence.

>Q9Y6Y0|IVNS1ABP
     1  MIPNGYLMFE DENFIESSVA KLNALRKSGQ FCDVRLQVCG HEMLAHRAVL ACCSPYLFEI
    61  FNSDSDPHGI SHVKFDDLNP EAVEVLLNYA YTAQLKADKE LVKDVYSAAK KLKMDRVKQV
   121  CGDYLLSRMD VTSCISYRNF ASCMGDSRLL NKVDAYIQEH LLQISEEEEF LKLPRLKLEV
   181  MLEDNVCLPS NGKLYTKVIN WVQRSIWENG DSLEELMEEV QTLYYSADHK LLDGNLLDGQ
   241  AEVFGSDDDH IQFVQKKPPR ENGHKQISSS STGCLSSPNA TVQSPKHEWK IVASEKTSNN
   301  TYLCLAVLDG IFCVIFLHGR NSPQSSPTST PKLSKSLSFE MQQDELIEKP MSPMQYARSG
   361  LGTAEMNGKL IAAGGYNREE CLRTVECYNP HTDHWSFLAP MRTPRARFQM AVLMGQLYVV
   421  GGSNGHSDDL SCGEMYDSNI DDWIPVPELR TNRCNAGVCA LNGKLYIVGG SDPYGQKGLK
   481  NCDVFDPVTK LWTSCAPLNI RRHQSAVCEL GGYLYIIGGA ESWNCLNTVE RYNPENNTWT
   541  LIAPMNVARR GAGVAVLNGK LFVCGGFDGS HAISCVEMYD PTRNEWKMMG NMTSPRSNAG
   601  IATVGNTIYA VGGFDGNEFL NTVEVYNLES NEWSPYTKIF QF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IVNS1ABP 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

427 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IVNS1ABP.

Disease | AllUniProt

Conditions IVNS1ABP is implicated in, by any mechanism.

• Immunodeficiency 70 (IMD70) MIM:618969

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 69 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Immunodeficiency 70

Disease | AutoantibodyPubMed

Conditions in which antibodies against IVNS1ABP are reported. Each links to that disease's full target list.

Showing 0 of 1 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for IVNS1ABP 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)

0.28

gnomAD pLI

0.99

gnomAD missense Z

2.89

DepMap mean gene effect

0

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intrinsic apoptotic signaling pathway
• mRNA processing
• negative regulation of intrinsic apoptotic signaling pathway
• negative regulation of protein ubiquitination
• proteasome-mediated ubiquitin-dependent protein catabolic process
• response to virus
• RNA splicing
• transcription by RNA polymerase III

Molecular functions

• ubiquitin-like ligase-substrate adaptor activity

Cellular components

• Cul3-RING ubiquitin ligase complex
• cytoplasm
• cytoskeleton
• cytosol
• nucleoplasm
• spliceosomal complex
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• BTB/POZ domain
• Kelch repeat type 1
• SKP1/BTB/POZ domain superfamily
• BTB/Kelch-associated
• Kelch-type beta-propeller
• BTB-kelch protein
• BTB/POZ domain
• Kelch motif
• BTB And C-terminal Kelch
• KLHDC2/KLHL20/DRC7 Kelch-repeats domain

KeywordsUniProt

• Cytoplasm
• Cytoskeleton
• Host-virus interaction
• Kelch repeat
• mRNA processing
• mRNA splicing
• Nucleus
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

Protein binding partners of IVNS1ABP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PTBP1
• SNRPA
• SART1
• AHR
• ALYREF
• HNRNPK
• KLHL20
• PARP1