• Gene id: 55183

Gene Summary

• Gene Symbol: RIF1   Gene   UCSC   Ensembl
• Gene name: replication timing regulatory factor 1
• Alternate names: telomere-associated protein RIF1, RAP1 interacting factor homolog, rap1-interacting factor 1 homolog,
• Gene location: 2q23.3 (151409901: 151534199)     Exons: 41     NC_000002.12
• Gene summary(Entrez): 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. [
• OMIM: 608952

Protein Summary

• Protein general information: Q5UIP0  
  • Name: Telomere associated protein RIF1 (Rap1 interacting factor 1 homolog)
  • Length: 2472  
  • Mass: 274466
  • Tissue specificity: Highly expressed in testis. {ECO
• Sequence:

  MTARGQSPLAPLLETLEDPSASHGGQTDAYLTLTSRMTGEEGKEVITEIEKKLPRLYKVLKTHISSQNSELSSAA
  LQALGFCLYNPKITSELSEANALELLSKLNDTIKNSDKNVRTRALWVISKQTFPSEVVGKMVSSIIDSLEILFNK
  GETHSAVVDFEALNVIVRLIEQAPIQMGEEAVRWAKLVIPLVVHSAQKVHLRGATALEMGMPLLLQKQQEIASIT
  EQLMTTKLISELQKLFMSKNETYVLKLWPLFVKLLGRTLHRSGSFINSLLQLEELGFRSGAPMIKKIAFIAWKSL
  IDNFALNPDILCSAKRLKLLMQPLSSIHVRTETLALTKLEVWWYLLMRLGPHLPANFEQVCVPLIQSTISIDSNA
  SPQGNSCHVATSPGLNPMTPVHKGASSPYGAPGTPRMNLSSNLGGMATIPSIQLLGLEMLLHFLLGPEALSFAKQ
  NKLVLSLEPLEHPLISSPSFFSKHANTLITAVHDSFVAVGKDAPDVVVSAIWKELISLVKSVTESGNKKEKPGSE
  VLTLLLKSLESIVKSEVFPVSKTLVLMEITIKGLPQKVLGSPAYQVANMDILNGTPALFLIQLIFNNFLECGVSD
  ERFFLSLESLVGCVLSGPTSPLAFSDSVLNVINQNAKQLENKEHLWKMWSVIVTPLTELINQTNEVNQGDALEHN
  FSAIYGALTLPVNHIFSEQRFPVATMKTLLRTWSELYRAFARCAALVATAEENLCCEELSSKIMSSLEDEGFSNL
  LFVDRIIYIITVMVDCIDFSPYNIKYQPKVKSPQRPSDWSKKKNEPLGKLTSLFKLIVKVIYSFHTLSFKEAHSD
  TLFTIGNSITGIISSVLGHISLPSMIRKIFATLTRPLALFYENSKLDEVPKVYSCLNNKLEKLLGEIIACLQFSY
  TGTYDSELLEQLSPLLCIIFLHKNKQIRKQSAQFWNATFAKVMMLVYPEELKPVLTQAKQKFLLLLPGLETVEMM
  EESSGPYSDGTENSQLNVKISGMERKSNGKRDSFLAQTKNKKENMKPAAKLKLESSSLKVKGEILLEEEKSTDFV
  FIPPEGKDAKERILTDHQKEVLKTKRCDIPAMYNNLDVSQDTLFTQYSQEEPMEIPTLTRKPKEDSKMMITEEQM
  DSDIVIPQDVTEDCGMAEHLEKSSLSNNECGSLDKTSPEMSNSNNDERKKALISSRKTSTECASSTENSFVVSSS
  SVSNTTVAGTPPYPTSRRQTFITLEKFDGSENRPFSPSPLNNISSTVTVKNNQETMIKTDFLPKAKQREGTFSKS
  DSEKIVNGTKRSSRRAGKAEQTGNKRSKPLMRSEPEKNTEESVEGIVVLENNPPGLLNQTECVSDNQVHLSESTM
  EHDNTKLKAATVENAVLLETNTVEEKNVEINLESKENTPPVVISADQMVNEDSQVQITPNQKTLRRSSRRRSEVV
  ESTTESQDKENSHQKKERRKEEEKPLQKSPLHIKDDVLPKQKLIAEQTLQENLIEKGSNLHEKTLGETSANAETE
  QNKKKADPENIKSEGDGTQDIVDKSSEKLVRGRTRYQTRRASQGLLSSIENSESDSSEAKEEGSRKKRSGKWKNK
  SNESVDIQDQEEKVVKQECIKAENQSHDYKATSEEDVSIKSPICEKQDESNTVICQDSTVTSDLLQVPDDLPNVC
  EEKNETSKYAEYSFTSLPVPESNLRTRNAIKRLHKRDSFDNCSLGESSKIGISDISSLSEKTFQTLECQHKRSRR
  VRRSKGCDCCGEKSQPQEKSLIGLKNTENNDVEISETKKADVQAPVSPSETSQANPYSEGQFLDEHHSVNFHLGL
  KEDNDTINDSLIVSETKSKENTMQESLPSGIVNFREEICDMDSSEAMSLESQESPNENFKTVGPCLGDSKNVSQE
  SLETKEEKPEETPKMELSLENVTVEGNACKVTESNLEKAKTMELNVGNEASFHGQERTKTGISEEAAIEENKRND
  DSEADTAKLNAKEVATEEFNSDISLSDNTTPVKLNAQTEISEQTAAGELDGGNDVSDLHSSEETNTKMKNNEEMM
  IGEAMAETGHDGETENEGITTKTSKPDEAETNMLTAEMDNFVCDTVEMSTEEGIIDANKTETNTEYSKSEEKLDN
  NQMVMESDILQEDHHTSQKVEEPSQCLASGTAISELIIEDNNASPQKLRELDPSLVSANDSPSGMQTRCVWSPLA
  SPSTSILKRGLKRSQEDEISSPVNKVRRVSFADPIYQAGLADDIDRRCSIVRSHSSNSSPIGKSVKTSPTTQSKH
  NTTSAKGFLSPGSRSPKFKSSKKCLISEMAKESIPCPTESVYPPLVNCVAPVDIILPQITSNMWARGLGQLIRAK
  NIKTIGDLSTLTASEIKTLPIRSPKVSNVKKALRIYHEQQVKTRGLEEIPVFDISEKTVNGIENKSLSPDEERLV
  SDIIDPVALEIPLSKNLLAQISALALQLDSEDLHNYSGSQLFEMHEKLSCMANSVIKNLQSRWRSPSHENSI

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR022031  
  • STRING: ENSP00000243326
• Other Databases: GeneCards:  RIF1  Malacards:  RIF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0000723	telomere maintenance	IBA	biological process
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IDA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0045830	positive regulation of isotype switching	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0001939	female pronucleus	IEA	cellular component
GO:0001940	male pronucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0035861	site of double-strand break	IEA	cellular component
GO:0045830	positive regulation of isotype switching	IEA	biological process
GO:0051574	positive regulation of histone H3-K9 methylation	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:0000723	telomere maintenance	IEA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0006348	chromatin silencing at telomere	IEA	biological process
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IEA	biological process
GO:0043247	telomere maintenance in response to DNA damage	IDA	biological process
GO:0051233	spindle midzone	IDA	cellular component
GO:0000723	telomere maintenance	ISS	biological process
GO:0006348	chromatin silencing at telomere	ISS	biological process
GO:0000793	condensed chromosome	IDA	cellular component
GO:0051574	positive regulation of histone H3-K9 methylation	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881