• Gene id: 55084

Gene Summary

• Gene Symbol: SOBP   Gene   UCSC   Ensembl
• Aliases: JXC1, MRAMS
• Gene name: sine oculis binding protein homolog
• Alternate names: sine oculis-binding protein homolog, jackson circler protein 1,
• Gene location: 6q21 (107490103: 107661305)     Exons: 12     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]

Protein Summary

• Protein general information: A7XYQ1  
  • Name: Sine oculis binding protein homolog (Jackson circler protein 1)
  • Length: 873  
  • Mass: 92658
• Sequence:

  MAEMEKEGRPPENKRSRKPAHPVKREINEEMKNFAENTMNELLGWYGYDKVELKDGEDIEFRSYPTDGESRQHIS
  VLKENSLPKPKLPEDSVISPYNISTGYSGLATGNGLSDSPAGSKDHGSVPIIVPLIPPPFIKPPAEDDVSNVQIM
  CAWCQKVGIKRYSLSMGSEVKSFCSEKCFAACRRAYFKRNKARDEDGHAENFPQQHYAKETPRLAFKNNCELLVC
  DWCKHIRHTKEYLDFGDGERRLQFCSAKCLNQYKMDIFYKETQANLPAGLCSTLHPPMENKAEGTGVQLLTPDSW
  NIPLTDARRKAPSPVATAGQSQGPGPSASTTVSPSDTANCSVTKIPTPVPKSIPISETPNIPPVSVQPPASIGPP
  LGVPPRSPPMVMTNRGPVPLPIFMEQQIMQQIRPPFIRGPPHHASNPNSPLSNPMLPGIGPPPGGPRNLGPTSSP
  MHRPMLSPHIHPPSTPTMPGNPPGLLPPPPPGAPLPSLPFPPVSMMPNGPMPVPQMMNFGLPSLAPLVPPPTLLV
  PYPVIVPLPVPIPIPIPIPHVSDSKPPNGFSSNGENFIPNAPGDSAAAGGKPSGHSLSPRDSKQGSSKSADSPPG
  CSGQALSLAPTPAEHGRSEVVDLTRRAGSPPGPPGAGGQLGFPGVLQGPQDGVIDLTVGHRARLHNVIHRALHAH
  VKAEREPSAAERRTCGGCRDGHCSPPAAGDPGPGAPAGPEAAAACNVIVNGTRGAAAEGAKSAEPPPEQPPPPPP
  PAPPKKLLSPEEPAVSELESVKENNCASNCHLDGEAAKKLMGEEALAGGDKSDPNLNNPADEDHAYALRMLPKTG
  CVIQPVPKPAEKAAMAPCIISSPMLSAGPEDLEPPLKRRCLRIRNQNK

• Structural information:
  • Interpro: IPR026092  
  • STRING: ENSP00000318900
• Other Databases: GeneCards:  SOBP  Malacards:  SOBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0050890	cognition	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0032184	SUMO polymer binding	IEA	molecular function
GO:0090102	cochlea development	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process

Diseases

Associated diseases	References
Syndromic autosomal recessive mental retardation	KEGG:H01911
Syndromic autosomal recessive mental retardation	KEGG:H01911
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray