Seroatlas · Human Serome Atlas

RIF1

Telomere-associated protein RIF1

Also known as: FLJ10599, FLJ12870, RIF1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q5UIP0
Gene: RIF1
Ensembl: ENSG00000080345
Chromosome: 2
Canonical length: 2472 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear membrane,Plasma membrane

OverviewNCBI Gene

This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

Canonical amino-acid sequenceUniProt

2472 residues, UniProt reviewed canonical sequence.

>Q5UIP0|RIF1
     1  MTARGQSPLA PLLETLEDPS ASHGGQTDAY LTLTSRMTGE EGKEVITEIE KKLPRLYKVL
    61  KTHISSQNSE LSSAALQALG FCLYNPKITS ELSEANALEL LSKLNDTIKN SDKNVRTRAL
   121  WVISKQTFPS EVVGKMVSSI IDSLEILFNK GETHSAVVDF EALNVIVRLI EQAPIQMGEE
   181  AVRWAKLVIP LVVHSAQKVH LRGATALEMG MPLLLQKQQE IASITEQLMT TKLISELQKL
   241  FMSKNETYVL KLWPLFVKLL GRTLHRSGSF INSLLQLEEL GFRSGAPMIK KIAFIAWKSL
   301  IDNFALNPDI LCSAKRLKLL MQPLSSIHVR TETLALTKLE VWWYLLMRLG PHLPANFEQV
   361  CVPLIQSTIS IDSNASPQGN SCHVATSPGL NPMTPVHKGA SSPYGAPGTP RMNLSSNLGG
   421  MATIPSIQLL GLEMLLHFLL GPEALSFAKQ NKLVLSLEPL EHPLISSPSF FSKHANTLIT
   481  AVHDSFVAVG KDAPDVVVSA IWKELISLVK SVTESGNKKE KPGSEVLTLL LKSLESIVKS
   541  EVFPVSKTLV LMEITIKGLP QKVLGSPAYQ VANMDILNGT PALFLIQLIF NNFLECGVSD
   601  ERFFLSLESL VGCVLSGPTS PLAFSDSVLN VINQNAKQLE NKEHLWKMWS VIVTPLTELI
   661  NQTNEVNQGD ALEHNFSAIY GALTLPVNHI FSEQRFPVAT MKTLLRTWSE LYRAFARCAA
   721  LVATAEENLC CEELSSKIMS SLEDEGFSNL LFVDRIIYII TVMVDCIDFS PYNIKYQPKV
   781  KSPQRPSDWS KKKNEPLGKL TSLFKLIVKV IYSFHTLSFK EAHSDTLFTI GNSITGIISS
   841  VLGHISLPSM IRKIFATLTR PLALFYENSK LDEVPKVYSC LNNKLEKLLG EIIACLQFSY
   901  TGTYDSELLE QLSPLLCIIF LHKNKQIRKQ SAQFWNATFA KVMMLVYPEE LKPVLTQAKQ
   961  KFLLLLPGLE TVEMMEESSG PYSDGTENSQ LNVKISGMER KSNGKRDSFL AQTKNKKENM
  1021  KPAAKLKLES SSLKVKGEIL LEEEKSTDFV FIPPEGKDAK ERILTDHQKE VLKTKRCDIP
  1081  AMYNNLDVSQ DTLFTQYSQE EPMEIPTLTR KPKEDSKMMI TEEQMDSDIV IPQDVTEDCG
  1141  MAEHLEKSSL SNNECGSLDK TSPEMSNSNN DERKKALISS RKTSTECASS TENSFVVSSS
  1201  SVSNTTVAGT PPYPTSRRQT FITLEKFDGS ENRPFSPSPL NNISSTVTVK NNQETMIKTD
  1261  FLPKAKQREG TFSKSDSEKI VNGTKRSSRR AGKAEQTGNK RSKPLMRSEP EKNTEESVEG
  1321  IVVLENNPPG LLNQTECVSD NQVHLSESTM EHDNTKLKAA TVENAVLLET NTVEEKNVEI
  1381  NLESKENTPP VVISADQMVN EDSQVQITPN QKTLRRSSRR RSEVVESTTE SQDKENSHQK
  1441  KERRKEEEKP LQKSPLHIKD DVLPKQKLIA EQTLQENLIE KGSNLHEKTL GETSANAETE
  1501  QNKKKADPEN IKSEGDGTQD IVDKSSEKLV RGRTRYQTRR ASQGLLSSIE NSESDSSEAK
  1561  EEGSRKKRSG KWKNKSNESV DIQDQEEKVV KQECIKAENQ SHDYKATSEE DVSIKSPICE
  1621  KQDESNTVIC QDSTVTSDLL QVPDDLPNVC EEKNETSKYA EYSFTSLPVP ESNLRTRNAI
  1681  KRLHKRDSFD NCSLGESSKI GISDISSLSE KTFQTLECQH KRSRRVRRSK GCDCCGEKSQ
  1741  PQEKSLIGLK NTENNDVEIS ETKKADVQAP VSPSETSQAN PYSEGQFLDE HHSVNFHLGL
  1801  KEDNDTINDS LIVSETKSKE NTMQESLPSG IVNFREEICD MDSSEAMSLE SQESPNENFK
  1861  TVGPCLGDSK NVSQESLETK EEKPEETPKM ELSLENVTVE GNACKVTESN LEKAKTMELN
  1921  VGNEASFHGQ ERTKTGISEE AAIEENKRND DSEADTAKLN AKEVATEEFN SDISLSDNTT
  1981  PVKLNAQTEI SEQTAAGELD GGNDVSDLHS SEETNTKMKN NEEMMIGEAM AETGHDGETE
  2041  NEGITTKTSK PDEAETNMLT AEMDNFVCDT VEMSTEEGII DANKTETNTE YSKSEEKLDN
  2101  NQMVMESDIL QEDHHTSQKV EEPSQCLASG TAISELIIED NNASPQKLRE LDPSLVSAND
  2161  SPSGMQTRCV WSPLASPSTS ILKRGLKRSQ EDEISSPVNK VRRVSFADPI YQAGLADDID
  2221  RRCSIVRSHS SNSSPIGKSV KTSPTTQSKH NTTSAKGFLS PGSRSPKFKS SKKCLISEMA
  2281  KESIPCPTES VYPPLVNCVA PVDIILPQIT SNMWARGLGQ LIRAKNIKTI GDLSTLTASE
  2341  IKTLPIRSPK VSNVKKALRI YHEQQVKTRG LEEIPVFDIS EKTVNGIENK SLSPDEERLV
  2401  SDIIDPVALE IPLSKNLLAQ ISALALQLDS EDLHNYSGSQ LFEMHEKLSC MANSVIKNLQ
  2461  SRWRSPSHEN SI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RIF1 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): 0.49
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 21 nTPM
testis: 10 nTPM
thymus: 10 nTPM
breast: 9.3 nTPM
tongue: 8.9 nTPM
thyroid gland: 8.5 nTPM

Single-cell type

myonuclei: 3,994 nCPM
erythrocyte progenitors: 474 nCPM
thymic myoid cells: 445 nCPM
neutrophil progenitors: 286 nCPM
megakaryocyte-erythroid progenitors: 256 nCPM
early primary spermatocytes: 223 nCPM

Immune cell

NK-cell: 7.7 nTPM
basophil: 6.3 nTPM
MAIT T-cell: 5 nTPM
naive CD4 T-cell: 4.9 nTPM
gdT-cell: 4.3 nTPM
memory B-cell: 4 nTPM

Brain region

cerebellum: 46 nTPM
white matter: 45 nTPM
basal ganglia: 34 nTPM
cerebral cortex: 31 nTPM
medulla oblongata: 29 nTPM
midbrain: 28 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): 0.11
gnomAD pLI: 1
gnomAD missense Z: -0.41
DepMap mean gene effect: -0.35
DepMap dependency class: selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Armadillo-like helical
Armadillo-type fold
Telomere-associated protein Rif1, N-terminal
Rap1-interacting factor 1 N terminal

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RIF1 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 RIF1 as an antibody target. Whether an autoantibody or antibody against RIF1 could matter depends on whether native RIF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RIF1 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 RIF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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