Seroatlas · Human Serome Atlas

RMI1

RecQ-mediated genome instability protein 1

Also known as: BLAP75, C9orf76, FLJ12888, RMI1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H9A7
Gene: RMI1
Ensembl: ENSG00000178966
Chromosome: 9
Canonical length: 625 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

Predicted to enable nucleotide binding activity. Involved in double-strand break repair via homologous recombination and resolution of DNA recombination intermediates. Located in nuclear body. Part of RecQ family helicase-topoisomerase III complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

625 residues, UniProt reviewed canonical sequence.

>Q9H9A7|RMI1
     1  MNVTSIALRA ETWLLAAWHV KVPPMWLEAC INWIQEENNN VNLSQAQMNK QVFEQWLLTD
    61  LRDLEHPLLP DGILEIPKGE LNGFYALQIN SLVDVSQPAY SQIQKLRGKN TTNDLVTAEA
   121  QVTPKPWEAK PSRMLMLQLT DGIVQIQGME YQPIPILHSD LPPGTKILIY GNISFRLGVL
   181  LLKPENVKVL GGEVDALLEE YAQEKVLARL IGEPDLVVSV IPNNSNENIP RVTDVLDPAL
   241  GPSDEELLAS LDENDELTAN NDTSSERCFT TGSSSNTIPT RQSSFEPEFV ISPRPKEEPS
   301  NLSIHVMDGE LDDFSLEEAL LLEETVQKEQ METKELQPLT FNRNADRSIE RFSHNPNTTN
   361  NFSLTCKNGN NNWSEKNVSE QMTNEDKSFG CPSVRDQNRS IFSVHCNVPL AHDFTNKEKN
   421  LETDNKIKQT SSSDSHSLNN KILNREVVNY VQKRNSQISN ENDCNLQSCS LRSSENSINL
   481  SIAMDLYSPP FVYLSVLMAS KPKEVTTVKV KAFIVTLTGN LSSSGGIWSI TAKVSDGTAY
   541  LDVDFVDEIL TSLIGFSVPE MKQSKKDPLQ YQKFLEGLQK CQRDLIDLCC LMTISFNPSL
   601  SKAMVLALQD VNMEHLENLK KRLNK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RMI1 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): 0.47
Highest tissue expression: 9.5 nTPM

Expression across tissuesHPA

Tissue

lymph node: 9.5 nTPM
thymus: 9.5 nTPM
tonsil: 9 nTPM
testis: 8.3 nTPM
adrenal gland: 7.8 nTPM
parathyroid gland: 7.2 nTPM

Single-cell type

late spermatids: 81 nCPM
respiratory deuterosomal cells: 80 nCPM
late primary spermatocytes: 76 nCPM
monocyte progenitors: 71 nCPM
early spermatids: 62 nCPM
early primary spermatocytes: 55 nCPM

Immune cell

basophil: 14 nTPM
eosinophil: 8.8 nTPM
neutrophil: 7.8 nTPM
myeloid DC: 7.2 nTPM
non-classical monocyte: 6.5 nTPM
intermediate monocyte: 5.5 nTPM

Brain region

choroid plexus: 13 nTPM
hypothalamus: 12 nTPM
cerebellum: 9.7 nTPM
white matter: 7.8 nTPM
medulla oblongata: 7.5 nTPM
pons: 7.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RMI1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 90 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Colorectal cancer

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): 0.92
gnomAD pLI: 0
gnomAD missense Z: 0.35
DepMap mean gene effect: -0.56
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

nucleotide binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

RecQ mediated genome instability protein 1, OB-fold domain
RecQ mediated genome instability protein, N-terminal OB-fold domain superfamily
RMI1, N-terminal OB-fold domain
RecQ-mediated genome instability protein 1, C-terminal OB-fold domain
RecQ-mediated genome instability protein 1, N-terminal helical domain superfamily
RMI1, N-terminal domain
Recq-mediated genome instability protein 1, C-terminal OB-fold
RMI1, N-terminal helical domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RMI1 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 RMI1 as an antibody target. Whether an autoantibody or antibody against RMI1 could matter depends on whether native RMI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RMI1 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 RMI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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