Seroatlas · Human Serome Atlas

UTP4

U3 small nucleolar RNA-associated protein 4 homolog

Also known as: CIRH1A, CIRHIN, FLJ14728, KIAA1988, NAIC, TEX292, UTP4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q969X6
Gene: UTP4
Ensembl: ENSG00000141076
Chromosome: 16
Canonical length: 686 aa
Protein class: Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoli fibrillar center

OverviewNCBI Gene

This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

686 residues, UniProt reviewed canonical sequence.

>Q969X6|UTP4
     1  MGEFKVHRVR FFNYVPSGIR CVAYNNQSNR LAVSRTDGTV EIYNLSANYF QEKFFPGHES
    61  RATEALCWAE GQRLFSAGLN GEIMEYDLQA LNIKYAMDAF GGPIWSMAAS PSGSQLLVGC
   121  EDGSVKLFQI TPDKIQFERN FDRQKSRILS LSWHPSGTHI AAGSIDYISV FDVKSGSAVH
   181  KMIVDRQYMG VSKRKCIVWG VAFLSDGTII SVDSAGKVQF WDSATGTLVK SHLIANADVQ
   241  SIAVADQEDS FVVGTAEGTV FHFQLVPVTS NSSEKQWVRT KPFQHHTHDV RTVAHSPTAL
   301  ISGGTDTHLV FRPLMEKVEV KNYDAALRKI TFPHRCLISC SKKRQLLLFQ FAHHLELWRL
   361  GSTVATGKNG DTLPLSKNAD HLLHLKTKGP ENIICSCISP CGSWIAYSTV SRFFLYRLNY
   421  EHDNISLKRV SKMPAFLRSA LQILFSEDST KLFVASNQGA LHIVQLSGGS FKHLHAFQPQ
   481  SGTVEAMCLL AVSPDGNWLA ASGTSAGVHV YNVKQLKLHC TVPAYNFPVT AMAIAPNTNN
   541  LVIAHSDQQV FEYSIPDKQY TDWSRTVQKQ GFHHLWLQRD TPITHISFHP KRPMHILLHD
   601  AYMFCIIDKS LPLPNDKTLL YNPFPPTNES DVIRRRTAHA FKISKIYKPL LFMDLLDERT
   661  LVAVERPLDD IIAQLPPPIK KKKFGT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UTP4 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): 0.23
Highest tissue expression: 60 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 60 nTPM
kidney: 31 nTPM
testis: 31 nTPM
urinary bladder: 27 nTPM
bone marrow: 26 nTPM
adipose tissue: 25 nTPM

Single-cell type

oocytes: 134 nCPM
proximal tubule cells: 77 nCPM
undifferentiated spermatogonia: 46 nCPM
differentiating spermatogonia: 45 nCPM
basal keratinocytes: 35 nCPM
early primary spermatocytes: 30 nCPM

Immune cell

MAIT T-cell: 39 nTPM
NK-cell: 35 nTPM
naive CD4 T-cell: 35 nTPM
naive CD8 T-cell: 32 nTPM
T-reg: 32 nTPM
memory B-cell: 31 nTPM

Brain region

hippocampal formation: 25 nTPM
cerebral cortex: 25 nTPM
basal ganglia: 21 nTPM
hypothalamus: 20 nTPM
choroid plexus: 19 nTPM
cerebellum: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UTP4.

Disease | ImmuneIEDB

Conditions an epitope on UTP4 was assayed in.

skin melanoma T cell
melanoma T cell

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): 0.66
gnomAD pLI: 0
DepMap mean gene effect: -1.66
DepMap dependency class: pan

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

Molecular functions

RNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

WD40 repeat
WD40/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
WD domain, G-beta repeat
U3 small nucleolar RNA-associated protein 4

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of UTP4 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 UTP4 as an antibody target. Whether an autoantibody or antibody against UTP4 could matter depends on whether native UTP4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UTP4 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 UTP4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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