• Gene id: 5937

Gene Summary

• Gene Symbol: RBMS1   Gene   UCSC   Ensembl
• Aliases: C2orf12, HCC-4, MSSP, MSSP-1, MSSP-2, MSSP-3, SCR2, YC1
• Gene name: RNA binding motif single stranded interacting protein 1
• Alternate names: RNA-binding motif, single-stranded-interacting protein 1, c-myc gene single strand binding protein 2, cervical cancer oncogene 4, single-stranded DNA-binding protein MSSP-1, suppressor of CDC2 with RNA-binding motif 2, suppressor of cdc 2 (cdc13) with RNA bind,
• Gene location: 2q24.2 (160493982: 160272150)     Exons: 16     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, origin
• OMIM: 602310

Protein Summary

• Protein general information: P29558  
  • Name: RNA binding motif, single stranded interacting protein 1 (Single stranded DNA binding protein MSSP 1) (Suppressor of CDC2 with RNA binding motif 2)
  • Length: 406  
  • Mass: 44505
  • Tissue specificity: Highest amounts are found in placenta, lung and heart.
• Sequence:

  MGKVWKQQMYPQYATYYYPQYLQAKQSLVPAHPMAPPSPSTTSSNNNSSSSSNSGWDQLSKTNLYIRGLPPHTTD
  QDLVKLCQPYGKIVSTKAILDKTTNKCKGYGFVDFDSPAAAQKAVSALKASGVQAQMAKQQEQDPTNLYISNLPL
  SMDEQELENMLKPFGQVISTRILRDSSGTSRGVGFARMESTEKCEAVIGHFNGKFIKTPPGVSAPTEPLLCKFAD
  GGQKKRQNPNKYIPNGRPWHREGEVRLAGMTLTYDPTTAAIQNGFYPSPYSIATNRMITQTSITPYIASPVSAYQ
  VQSPSWMQPQPYILQHPGAVLTPSMEHTMSLQPASMISPLAQQMSHLSLGSTGTYMPATSAMQGAYLPQYAHMQT
  TAVPVEEASGQQQVAVETSNDHSPYTFQPNK

• Structural information:
  • Protein Domains: (62..13-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (141..22-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR002343  IPR034404  IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • CDD: cd12470
  • PDB: 1X5O
  • PDBsum: 1X5O
  • STRING: ENSP00000294904
• Other Databases: GeneCards:  RBMS1  Malacards:  RBMS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006396	RNA processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0003723	RNA binding	NAS	molecular function
GO:0003697	single-stranded DNA binding	NAS	molecular function
GO:0006260	DNA replication	NAS	biological process
GO:0003690	double-stranded DNA binding	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq