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Tdark RING finger and SPRY domain-containing protein 1

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

 Comments

Property Summary

NCBI Gene PubMed Count 6
PubMed Score 1.64

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (12)

Disease Z-score Confidence
Spondyloepimetaphyseal dysplasia 9 3.789 1.9
Intellectual disability 573 4.0
adrenocortical carcinoma 1,427
astrocytic glioma 2,241
atypical teratoid / rhabdoid tumor 4,369
glioblastoma 5,572
group 4 medulloblastoma 1,875
juvenile dermatomyositis 1,189
oligodendroglioma 2,849
ovarian cancer 8,484
pilocytic astrocytoma 3,086
primitive neuroectodermal tumor 3,031

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma 1.200 0.001
oligodendroglioma 1.300 0.001
glioblastoma 1.100 0.000
group 4 medulloblastoma 1.400 0.001
atypical teratoid / rhabdoid tumor 1.400 0.000
primitive neuroectodermal tumor 1.100 0.000
juvenile dermatomyositis 1.065 0.000
adrenocortical carcinoma 1.075 0.002
pilocytic astrocytoma 1.100 0.000
ovarian cancer 1.400 0.001

Synonym

Accession Q96DX4 Q6UX21 Q8ND53
Symbols SEMDFA

Gene

RSPRY1

PANTHER Protein Class (2)

 GO Function (1)

 GO Component (1)

 Compartment GO Term (2)

Pathway (1)

 UniProt Keyword (13)

See all...

Gene RIF (1)

PMID Text
26365341 RSPRY1 Mutations are associated with Progressive Skeletal Dysplasia.

AA Sequence 

MIVFGWAVFLASRSLGQGLLLTLEEHIAHFLGTGGAATTMGNSCICRDDSGTDDSVDTQQQQAENSAVPT      1 - 70
ADTRSQPRDPVRPPRRGRGPHEPRRKKQNVDGLVLDTLAVIRTLVDNDQEPPYSMITLHEMAETDEGWLD     71 - 140
VVQSLIRVIPLEDPLGPAVITLLLDECPLPTKDALQKLTEILNLNGEVACQDSSHPAKHRNTSAVLGCLA    141 - 210
EKLAGPASIGLLSPGILEYLLQCLKLQSHPTVMLFALIALEKFAQTSENKLTISESSISDRLVTLESWAN    211 - 280
DPDYLKRQVGFCAQWSLDNLFLKEGRQLTYEKVNLSSIRAMLNSNDVSEYLKISPHGLEARCDASSFESV    281 - 350
RCTFCVDAGVWYYEVTVVTSGVMQIGWATRDSKFLNHEGYGIGDDEYSCAYDGCRQLIWYNARSKPHIHP    351 - 420
CWKEGDTVGFLLDLNEKQMIFFLNGNQLPPEKQVFSSTVSGFFAAASFMSYQQCEFNFGAKPFKYPPSMK    421 - 490
FSTFNDYAFLTAEEKIILPRHRRLALLKQVSIRENCCSLCCDEVADTQLKPCGHSDLCMDCALQLETCPL    491 - 560
CRKEIVSRIRQISHIS                                                          561 - 576
//

Text Mined References (8)

PMID Year Title
26365341 2015 Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11853319 2001 Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.