KHDRBS1
KH domain-containing, RNA-binding, signal transduction-associated protein 1
Also known as: FLJ34027, KHDR1_HUMAN, p62, Sam68
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q07666
- Gene
- KHDRBS1
- Ensembl
- ENSG00000121774
- Chromosome
- 1
- Canonical length
- 443 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Canonical amino-acid sequenceUniProt
443 residues, UniProt reviewed canonical sequence.
>Q07666|KHDRBS1
1 MQRRDDPAAR MSRSSGRSGS MDPSGAHPSV RQTPSRQPPL PHRSRGGGGG SRGGARASPA
61 TQPPPLLPPS ATGPDATVGG PAPTPLLPPS ATASVKMEPE NKYLPELMAE KDSLDPSFTH
121 AMQLLTAEIE KIQKGDSKKD DEENYLDLFS HKNMKLKERV LIPVKQYPKF NFVGKILGPQ
181 GNTIKRLQEE TGAKISVLGK GSMRDKAKEE ELRKGGDPKY AHLNMDLHVF IEVFGPPCEA
241 YALMAHAMEE VKKFLVPDMM DDICQEQFLE LSYLNGVPEP SRGRGVPVRG RGAAPPPPPV
301 PRGRGVGPPR GALVRGTPVR GAITRGATVT RGVPPPPTVR GAPAPRARTA GIQRIPLPPP
361 PAPETYEEYG YDDTYAEQSY EGYEGYYSQS QGDSEYYDYG HGEVQDSYEA YGQDDWNGTR
421 PSLKAPPARP VKGAYREHPY GRYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KHDRBS1 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)
- 0.6
- Highest tissue expression
- 106 nTPM
Expression across tissuesHPA
Tissue
- ovary: 106 nTPM
- thymus: 105 nTPM
- tonsil: 91 nTPM
- bone marrow: 88 nTPM
- lymph node: 88 nTPM
- endometrium: 77 nTPM
Single-cell type
- extravillous trophoblasts: 315 nCPM
- neutrophils: 299 nCPM
- esophageal basal cells: 297 nCPM
- migrating cytotrophoblasts: 291 nCPM
- cytotrophoblasts: 271 nCPM
- monocyte progenitors: 252 nCPM
Immune cell
- MAIT T-cell: 12 nTPM
- memory B-cell: 10 nTPM
- naive CD4 T-cell: 9.8 nTPM
- naive CD8 T-cell: 9.5 nTPM
- T-reg: 9.3 nTPM
- memory CD4 T-cell: 9.2 nTPM
Brain region
- white matter: 79 nTPM
- cerebellum: 77 nTPM
- spinal cord: 77 nTPM
- medulla oblongata: 70 nTPM
- hypothalamus: 67 nTPM
- midbrain: 66 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KHDRBS1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 59 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.24
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.42
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- G1/S transition of mitotic cell cycle
- G2/M transition of mitotic cell cycle
- mRNA processing
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- positive regulation of RNA export from nucleus
- positive regulation of translational initiation
- regulation of alternative mRNA splicing, via spliceosome
- regulation of apoptotic process
- regulation of cell cycle
- regulation of RNA splicing
- spermatogenesis
- T cell receptor signaling pathway
- regulation of RNA export from nucleus
Molecular functions
- DNA binding
- identical protein binding
- molecular function inhibitor activity
- mRNA binding
- poly(A) binding
- poly(U) RNA binding
- protein domain specific binding
- protein tyrosine kinase binding
- protein-containing complex binding
- RNA binding
- SH2 domain binding
- SH3 domain binding
- signaling adaptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KHDRBS1 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 KHDRBS1 as an antibody target. Whether an autoantibody or antibody against KHDRBS1 could matter depends on whether native KHDRBS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KHDRBS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KHDRBS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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