Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	92241
Gene name	RCSD domain containing 1
Gene symbol	RCSD1
Synonyms (NCBI Gene)	CAPZIPMK2S4
Chromosome	1
Chromosome location	1q24.2

Show/Hide all (61)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018557	hsa-miR-335-5p	Microarray	18185580
MIRT456342	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT456341	hsa-miR-3663-5p	PAR-CLIP	23592263
MIRT456340	hsa-miR-4684-5p	PAR-CLIP	23592263
MIRT456339	hsa-miR-6843-3p	PAR-CLIP	23592263
MIRT456338	hsa-miR-6848-3p	PAR-CLIP	23592263
MIRT439792	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT439792	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT456342	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT456341	hsa-miR-3663-5p	PAR-CLIP	23592263
MIRT456340	hsa-miR-4684-5p	PAR-CLIP	23592263
MIRT456339	hsa-miR-6843-3p	PAR-CLIP	23592263
MIRT456338	hsa-miR-6848-3p	PAR-CLIP	23592263
MIRT1298813	hsa-miR-2113	CLIP-seq
MIRT1298814	hsa-miR-298	CLIP-seq
MIRT1298815	hsa-miR-3147	CLIP-seq
MIRT1298816	hsa-miR-383	CLIP-seq
MIRT1298817	hsa-miR-4425	CLIP-seq
MIRT1298818	hsa-miR-4537	CLIP-seq
MIRT1298819	hsa-miR-4670-5p	CLIP-seq
MIRT1298820	hsa-miR-4772-5p	CLIP-seq
MIRT1298821	hsa-miR-548b-3p	CLIP-seq
MIRT1298822	hsa-miR-548p	CLIP-seq
MIRT1298823	hsa-miR-599	CLIP-seq
MIRT1298824	hsa-miR-615-3p	CLIP-seq
MIRT1553049	hsa-miR-140-3p	CLIP-seq
MIRT1553050	hsa-miR-197	CLIP-seq
MIRT1553051	hsa-miR-3199	CLIP-seq
MIRT1553052	hsa-miR-331-3p	CLIP-seq
MIRT1553053	hsa-miR-371b-3p	CLIP-seq
MIRT1553054	hsa-miR-4292	CLIP-seq
MIRT1553055	hsa-miR-4749-3p	CLIP-seq
MIRT2088902	hsa-miR-518a-5p	CLIP-seq
MIRT2088903	hsa-miR-527	CLIP-seq
MIRT2313775	hsa-miR-103b	CLIP-seq
MIRT2313776	hsa-miR-3074-3p	CLIP-seq
MIRT2313777	hsa-miR-338-5p	CLIP-seq
MIRT2313778	hsa-miR-425	CLIP-seq
MIRT2313779	hsa-miR-487a	CLIP-seq
MIRT2313780	hsa-miR-875-3p	CLIP-seq
MIRT2313781	hsa-miR-889	CLIP-seq
MIRT2610374	hsa-miR-1236	CLIP-seq
MIRT1298813	hsa-miR-2113	CLIP-seq
MIRT1298814	hsa-miR-298	CLIP-seq
MIRT1298815	hsa-miR-3147	CLIP-seq
MIRT2610375	hsa-miR-3675-3p	CLIP-seq
MIRT1298817	hsa-miR-4425	CLIP-seq
MIRT2610376	hsa-miR-4528	CLIP-seq
MIRT2610377	hsa-miR-4705	CLIP-seq
MIRT1298821	hsa-miR-548b-3p	CLIP-seq
MIRT1298823	hsa-miR-599	CLIP-seq
MIRT2610374	hsa-miR-1236	CLIP-seq
MIRT1298813	hsa-miR-2113	CLIP-seq
MIRT1298814	hsa-miR-298	CLIP-seq
MIRT1298815	hsa-miR-3147	CLIP-seq
MIRT2610375	hsa-miR-3675-3p	CLIP-seq
MIRT1298817	hsa-miR-4425	CLIP-seq
MIRT2610376	hsa-miR-4528	CLIP-seq
MIRT2610377	hsa-miR-4705	CLIP-seq
MIRT1298821	hsa-miR-548b-3p	CLIP-seq
MIRT1298823	hsa-miR-599	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	ISS
GO:0005769	Component	Early endosome	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005884	Component	Actin filament	IC	15850461
GO:0036010	Process	Protein localization to endosome	IBA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IBA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IPI	15850461
GO:0071203	Component	WASH complex	IBA
GO:0071474	Process	Cellular hyperosmotic response	IDA	15850461
GO:1901981	Function	Phosphatidylinositol phosphate binding	IBA
GO:1905394	Function	Retromer complex binding	IBA

MIM	HGNC	e!Ensembl
610579	28310	ENSG00000198771

Q6JBY9

Protein name

CapZ-interacting protein (Protein kinase substrate CapZIP) (RCSD domain-containing protein 1)

Protein function

Stress-induced phosphorylation of CAPZIP may regulate the ability of F-actin-capping protein to remodel actin filament assembly.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15255	CAP-ZIP_m	77 → 212	WASH complex subunit CAP-Z interacting, central region	Family
PF05177	RCSD	229 → 329	RCSD region	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in skeletal muscle and more weakly in cardiac muscle. Also expressed in several lymphoid organs, including spleen, thymus, peripheral blood leukocytes, lymph node and bone marrow. {ECO:0000269|PubMed:15850461}.

Sequence

MEERPAETNANVDNSASPSVAQLAGRFREQAAAAKETPASKPTRRKPPCSLPLFPPKVDL
GQNGEEKSPPNASHPPKFKVKSSPLIEKLQANLTFDPAALLPGASPKSPGLKAMVSPFHS
PPSTPSSPGVRSRPSEAEEVPVSFDQPPEGSHLPCYNKVRTRGSIKRRPPSRRFRRSQSD
CGELGDFRAVESSQQNGAKEEDGDEVLPSKSKAPGSPLSSEGAAGEGVRTLGPAEKPPLR
RSPSRTEKQEEDRATEEAKNGEKARRSSEEVDGQHPAQEEVPESPQTSGPEAENRCGSPR
EEKPAGEEAEMEKATEVKGERVQNEEVGPEHDSQETKKLEEGAAVKETPHSPPGGVKGGD
VPKQEKGKEKQQEGAVLEPGCSPQTGPAQLETSSEVQSEPAVPKPEDDTPVQDTKM

Sequence length

416

Interactions

View interactions

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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
APPENDICITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21863287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	36311703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36311703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	21863287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	21435002, 21863287, 29296813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29296813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	17541395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	21863287		★★★★★ ★☆☆☆☆ Found in Text Mining only

RCSD1 (RCSD domain containing 1)