SYNCRIP (synaptotagmin binding cytoplasmic RNA interacting protein)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 10492
Gene name Synaptotagmin binding cytoplasmic RNA interacting protein
Gene symbol SYNCRIP
Synonyms (NCBI Gene)
GRY-RBPGRYRBPHNRNPQHNRPQ1NSAP1PP68hnRNP-Q
Chromosome 6
Chromosome location 6q14.3
Summary This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of
miRNA miRNA information provided by mirtarbase database.
719
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (719)
miRTarBase ID miRNA Experiments Reference
MIRT019684 hsa-miR-375 Microarray 20215506
MIRT026132 hsa-miR-192-5p Microarray 19074876
MIRT028770 hsa-miR-26b-5p Microarray 19088304
MIRT049985 hsa-miR-29a-3p CLASH 23622248
MIRT043586 hsa-miR-148b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (48)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616686 16918 ENSG00000135316
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60506
Protein name Heterogeneous nuclear ribonucleoprotein Q (hnRNP Q) (Glycine- and tyrosine-rich RNA-binding protein) (GRY-RBP) (NS1-associated protein 1) (Synaptotagmin-binding, cytoplasmic RNA-interacting protein)
Protein function Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Component of the CRD-mediated complex that promotes MYC mRNA stability. Isoform 1, isoform 2 and isoform 3 are associated in vitro with pre-mRNA, splicing i
PDB 2DGU , 2MXT , 2NBB , 6KOR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18360 hnRNP_Q_AcD 34 → 103 Heterogeneous nuclear ribonucleoprotein Q acidic domain Domain
PF00076 RRM_1 164 → 232 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 245 → 312 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 340 → 402 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Detected in heart, brain, pancreas, placenta, spleen, lung, liver, skeletal muscle, kidney, thymus, prostate, uterus, small intestine, colon, peripheral blood and testis. {ECO:0000269|PubMed:11352648}.
Sequence 
MATEHVNGNGTEEPMDTTSAVIHSENFQTLLDAGLPQKVAEKLDEIYVAGLVAHSDLDER
AIEALKEFNEDGALAVLQQFKDSDLSHVQNKSAFLCGVMKTYRQREKQGTKVADSSKGPD
EAKIKALLERTGYTLDVTTGQRKYGGPPPDSVYSGQQPSVGTEIFVGKIPRDLFEDELVP
LFEKAGPIWDLRLMMDPLTGLNRGYAFVTFCTKEAAQEAVKLYNNHEIRSGKHIGVCISV
ANNRLFVGSIPKSKTKEQILEEFSKVTEGLTDVILYHQPDDKKKNRGFCFLEYEDHKTAA
QARRRLMSGKVKVWGNVGTVEWADPIEDPDPEVMAKVKVLFVRNLANTVTEEILEKAFSQ
FGKLERVKKLKDYAFIHFDERDGAVKAMEEMNGKDLEGENIEIVFAKPPDQKRKERKAQR
QAAKNQMYDDYYYYGPPHMPPPTRGRGRGGRGGYGYPPDYYGYEDYYDYYGYDYHNYRGG
YEDPYYGYEDFQVGARGRGGRGARGAAPSRGRGAAPPRGRAGYSQRGGPGSARGVRGARG
GAQQQRGRGVRGARGGRGGNVGGKRKADGYNQPDSKRRQTNNQNWGSQPIAQQPLQGGDH
SGNYGYKSENQEFYQDTFGQQWK
Sequence length 623
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SYNCRIP-associated neurodevelopmental disorder Likely pathogenic rs2537968823 RCV003322729
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder association rs1805615555, rs1808543772 RCV001291387
RCV001291386
See cases Uncertain significance rs554052753 RCV001291666
SYNCRIP-related disorder Uncertain significance; Likely benign rs2537715397, rs2537718294, rs769858049, rs149887697, rs2537999819, rs199509715, rs1270684969, rs555193893 RCV003414497
RCV003410510
RCV003410494
RCV003946607
RCV003901894
RCV003944168
RCV003927128
RCV003971671
SYNCRIP-related Intellectual Disability Uncertain significance rs1805619034 RCV004799387
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 29134320
Arthritis Rheumatoid Associate 30198906
Autism Spectrum Disorder Associate 30504930
Autistic Disorder Associate 29904178, 30504930
Breast Neoplasms Associate 33495416
Colorectal Neoplasms Associate 19137262
Developmental Disabilities Associate 29904178
Frontotemporal Lobar Degeneration Associate 30755280
Gallbladder Neoplasms Associate 31792210
Leukemia Myeloid Acute Associate 32323795