Gene Gene information from NCBI Gene database.
Entrez ID 153443
Gene name Serum response factor binding protein 1
Gene symbol SRFBP1
Synonyms (NCBI Gene)
BUD22P49Rlb1STRAPp49/STRAP
Chromosome 5
Chromosome location 5q23.1
miRNA miRNA information provided by mirtarbase database.
284
miRTarBase ID miRNA Experiments Reference
MIRT626189 hsa-miR-4714-5p HITS-CLIP 23824327
MIRT626188 hsa-miR-514a-5p HITS-CLIP 23824327
MIRT626187 hsa-miR-3664-5p HITS-CLIP 23824327
MIRT626186 hsa-miR-1-5p HITS-CLIP 23824327
MIRT626185 hsa-miR-4524a-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0030490 Process Maturation of SSU-rRNA IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610479 26333 ENSG00000151304
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NEF9
Protein name Serum response factor-binding protein 1 (SRF-dependent transcription regulation-associated protein) (p49/STRAP)
Protein function May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09073 BUD22 350 428 BUD22 Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in heart and skeletal muscle, and at much lower levels in brain and lung. {ECO:0000269|PubMed:15492011}.
Sequence
MAQPGTLNLNNEVVKMRKEVKRIRVLVIRKLVRSVGRLKSKKGTEDALLKNQRRAQRLLE
EIHAMKELKPDIVTKSALGDDINFEKIFKKPDSTATERAIARLAVHPLLKKKIDVLKAAV
QAFKEARQNVAEVESSKNASEDNHSENTLYSNDNGSNLQREATVISEQKVKETKILAKKP
IHNSKEKIAKMEHGPKAVTIANSPSKPSEKDSVVSLESQKTPADPKLKTLSQTKKNKGSD
SSLSGNSDGGEEFCEEEKEYFDDSTEERFYKQSSMSEDSDSGDDFFIGKVRRTRKKESSC
HSSVKEQKPLEKVFLKEDTGETHGDTRNDKIKPSTETRKLESVFFHSLSGSKSSRRNFKE
QAPKTRSLDFPQNEPQIKNQFNKKLSGRLENTKQQLQLPLHPSWEASRRRKEQQSNIAVF
QGKKITFD
D
Sequence length 429
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AORTIC ANEURYSM, FAMILIAL THORACIC 10 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ANEURYSM OF ASCENDING AORTA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16778189, 26781266
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 17316412
★☆☆☆☆
Found in Text Mining only
AORTIC ANEURYSM, FAMILIAL THORACIC 10 Aortic Aneurysm CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 10646843
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 16778189, 29797604
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26212323, 36581319 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer CTD_human_DG 15720808
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 17108118, 17316412, 28827371, 29783958, 30257989
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms CTD_human_DG 15720808
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 15720808 Associate
★☆☆☆☆
Found in Text Mining only