Seroatlas · Human Serome Atlas

NUFIP1

FMR1-interacting protein NUFIP1

Also known as: NUFIP, NUFP1_HUMAN, Rsa1

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

Protein identityUniProt · HPA

UniProt accession: Q9UHK0
Gene: NUFIP1
Ensembl: ENSG00000083635
Chromosome: 13
Canonical length: 495 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli

OverviewNCBI Gene

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

495 residues, UniProt reviewed canonical sequence.

>Q9UHK0|NUFIP1
     1  MAEPTSDFET PIGWHASPEL TPTLGPLSDT APPRDSWMFW AMLPPPPPPL TSSLPAAGSK
    61  PSSESQPPME AQSLPGAPPP FDAQILPGAQ PPFDAQSPLD SQPQPSGQPW NFHASTSWYW
   121  RQSSDRFPRH QKSFNPAVKN SYYPRKYDAK FTDFSLPPSR KQKKKKRKEP VFHFFCDTCD
   181  RGFKNQEKYD KHMSEHTKCP ELDCSFTAHE KIVQFHWRNM HAPGMKKIKL DTPEEIARWR
   241  EERRKNYPTL ANIERKKKLK LEKEKRGAVL TTTQYGKMKG MSRHSQMAKI RSPGKNHKWK
   301  NDNSRQRAVT GSGSHLCDLK LEGPPEANAD PLGVLINSDS ESDKEEKPQH SVIPKEVTPA
   361  LCSLMSSYGS LSGSESEPEE TPIKTEADVL AENQVLDSSA PKSPSQDVKA TVRNFSEAKS
   421  ENRKKSFEKT NPKRKKDYHN YQTLFEPRTH HPYLLEMLLA PDIRHERNVI LQCVRYIIKK
   481  DFFGLDTNSA KSKDV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NUFIP1 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): 0.64
Highest tissue expression: 7.5 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 7.5 nTPM
epididymis: 5.2 nTPM
testis: 5.2 nTPM
skeletal muscle: 4.5 nTPM
cerebral cortex: 4.4 nTPM
breast: 4.3 nTPM

Single-cell type

late spermatids: 111 nCPM
oocytes: 69 nCPM
early spermatids: 55 nCPM
cone photoreceptor cells: 46 nCPM
erythrocyte progenitors: 33 nCPM
differentiating spermatogonia: 29 nCPM

Immune cell

NK-cell: 6 nTPM
MAIT T-cell: 4.7 nTPM
naive CD4 T-cell: 4.5 nTPM
plasmacytoid DC: 4.5 nTPM
naive B-cell: 4.1 nTPM
memory B-cell: 4 nTPM

Brain region

white matter: 7.6 nTPM
cerebral cortex: 6.8 nTPM
basal ganglia: 6.6 nTPM
hippocampal formation: 6.4 nTPM
midbrain: 6.3 nTPM
hypothalamus: 5.9 nTPM

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): 0.98
gnomAD pLI: 0
gnomAD missense Z: -0.17
DepMap mean gene effect: -0.77
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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

Zinc finger C2H2-type
FMR1-interacting protein 1, conserved domain
NUFIP1-like
FMR1-interacting protein 1 (NUFIP1)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NUFIP1 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 NUFIP1 as an antibody target. Whether an autoantibody or antibody against NUFIP1 could matter depends on whether native NUFIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NUFIP1 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 NUFIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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