EuRBPDB

Description

RBDs

Literatures

Expression

Transcripts

Gene Model

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000138375 (Gene tree)
Gene ID: 50485
Gene Symbol: SMARCAL1
Alias: HHARP|HARP
Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: confidence
Strand: Plus strand
Length: 70,640 bases
Position: chr2:216,412,414-216,483,053
Accession: 11102
RBP type: canonical RBP
Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]

RNA binding domains(RBDs)

Protein ID	Domain	Pfam ID	E-value	Domain number	Total number
ENSP00000400473	ResIII	PF04851.15	0.00024	1	1

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
10857751	Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse.	Genomics	2000 May 1	Coleman MA	-

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000412913	SMARCAL1-204	538	-	ENSP00000390248	141 (aa)	-	C9JHQ1
ENST00000358207	SMARCAL1-202	3056	XM_017004228	ENSP00000350940	954 (aa)	XP_016859717	Q9NZC9
ENST00000479008	SMARCAL1-211	633	-	-	- (aa)	-	-
ENST00000434435	SMARCAL1-208	544	-	ENSP00000402967	92 (aa)	-	C9JP32
ENST00000392128	SMARCAL1-203	2431	-	ENSP00000375974	796 (aa)	-	H7BYI2
ENST00000496037	SMARCAL1-213	542	-	-	- (aa)	-	-
ENST00000486983	SMARCAL1-212	793	-	-	- (aa)	-	-
ENST00000357276	SMARCAL1-201	3271	XM_005246631	ENSP00000349823	954 (aa)	XP_005246688	Q9NZC9
ENST00000444508	SMARCAL1-209	711	-	ENSP00000398969	130 (aa)	-	C9J8F8
ENST00000430374	SMARCAL1-207	722	-	ENSP00000405077	145 (aa)	-	C9J6I8
ENST00000427645	SMARCAL1-206	977	-	ENSP00000392997	325 (aa)	-	H7C051
ENST00000425815	SMARCAL1-205	310	-	ENSP00000394410	19 (aa)	-	C9JS37
ENST00000445153	SMARCAL1-210	484	-	ENSP00000400473	161 (aa)	-	H7C1I3

Gene Model

Click here to download ENSG00000138375's gene model file

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000138375	rs13411858	2	216441975	T	Extremely high intelligence	29520040	NR z score decrease decrease	5.57	EFO_0004337

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000138375's network

* RBP PPI network refers to all genes directly bind to RBP

Orthologs

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000138375	SMARCAL1	99	68.323	ENSAPOG00000020156	SMARCAL1	96	52.030	Acanthochromis_polyacanthus
ENSG00000138375	SMARCAL1	99	65.839	ENSACIG00000001500	smarcal1	91	58.989	Amphilophus_citrinellus
ENSG00000138375	SMARCAL1	99	67.702	ENSAOCG00000014266	SMARCAL1	98	52.197	Amphiprion_ocellaris
ENSG00000138375	SMARCAL1	99	68.323	ENSAPEG00000015861	SMARCAL1	99	55.598	Amphiprion_percula
ENSG00000138375	SMARCAL1	99	66.460	ENSATEG00000020624	SMARCAL1	96	51.884	Anabas_testudineus
ENSG00000138375	SMARCAL1	99	70.000	ENSAPLG00000009864	SMARCAL1	100	54.225	Anas_platyrhynchos
ENSG00000138375	SMARCAL1	99	71.250	ENSACAG00000004612	SMARCAL1	99	54.254	Anolis_carolinensis
ENSG00000138375	SMARCAL1	99	67.702	ENSACLG00000015990	SMARCAL1	97	51.217	Astatotilapia_calliptera
ENSG00000138375	SMARCAL1	99	65.217	ENSAMXG00000003350	smarcal1	88	57.987	Astyanax_mexicanus
ENSG00000138375	SMARCAL1	99	70.625	ENSCPBG00000013599	SMARCAL1	99	67.350	Chrysemys_picta_bellii
ENSG00000138375	SMARCAL1	78	53.906	ENSCING00000009308	-	100	47.969	Ciona_intestinalis
ENSG00000138375	SMARCAL1	99	65.839	ENSCSEG00000010785	SMARCAL1	99	51.190	Cynoglossus_semilaevis
ENSG00000138375	SMARCAL1	99	65.217	ENSCVAG00000018780	SMARCAL1	82	58.082	Cyprinodon_variegatus
ENSG00000138375	SMARCAL1	99	57.764	ENSEBUG00000011906	SMARCAL1	99	43.025	Eptatretus_burgeri
ENSG00000138375	SMARCAL1	99	68.323	ENSELUG00000010440	-	99	48.042	Esox_lucius
ENSG00000138375	SMARCAL1	99	68.750	ENSFALG00000003981	SMARCAL1	99	54.158	Ficedula_albicollis
ENSG00000138375	SMARCAL1	99	62.112	ENSFHEG00000008380	SMARCAL1	96	50.431	Fundulus_heteroclitus
ENSG00000138375	SMARCAL1	99	64.375	ENSGMOG00000010034	smarcal1	92	55.634	Gadus_morhua
ENSG00000138375	SMARCAL1	99	70.625	ENSGALG00000011475	RPL37A	99	55.308	Gallus_gallus
ENSG00000138375	SMARCAL1	99	65.839	ENSGACG00000006073	SMARCAL1	99	64.739	Gasterosteus_aculeatus
ENSG00000138375	SMARCAL1	99	70.625	ENSGAGG00000015660	SMARCAL1	99	55.461	Gopherus_agassizii
ENSG00000138375	SMARCAL1	99	68.323	ENSHBUG00000002973	smarcal1	97	51.765	Haplochromis_burtoni
ENSG00000138375	SMARCAL1	99	67.081	ENSHCOG00000017921	smarcal1	79	61.169	Hippocampus_comes
ENSG00000138375	SMARCAL1	99	63.354	ENSKMAG00000012023	SMARCAL1	78	60.176	Kryptolebias_marmoratus
ENSG00000138375	SMARCAL1	99	65.839	ENSLBEG00000003493	smarcal1	75	61.466	Labrus_bergylta
ENSG00000138375	SMARCAL1	99	65.839	ENSLBEG00000022915	smarcal1	85	59.847	Labrus_bergylta
ENSG00000138375	SMARCAL1	99	68.323	ENSLACG00000010974	SMARCAL1	100	49.599	Latimeria_chalumnae
ENSG00000138375	SMARCAL1	99	66.460	ENSLOCG00000009637	smarcal1	99	52.863	Lepisosteus_oculatus
ENSG00000138375	SMARCAL1	99	66.460	ENSMAMG00000000828	SMARCAL1	99	51.246	Mastacembelus_armatus
ENSG00000138375	SMARCAL1	99	67.702	ENSMZEG00005007660	SMARCAL1	97	51.111	Maylandia_zebra
ENSG00000138375	SMARCAL1	99	69.375	ENSMGAG00000011658	SMARCAL1	99	56.358	Meleagris_gallopavo
ENSG00000138375	SMARCAL1	99	65.217	ENSMMOG00000003842	smarcal1	79	59.034	Mola_mola
ENSG00000138375	SMARCAL1	99	75.000	ENSMODG00000015544	SMARCAL1	99	60.758	Monodelphis_domestica
ENSG00000138375	SMARCAL1	99	67.702	ENSNBRG00000016273	smarcal1	84	62.712	Neolamprologus_brichardi
ENSG00000138375	SMARCAL1	99	75.000	ENSMEUG00000004395	SMARCAL1	100	64.926	Notamacropus_eugenii
ENSG00000138375	SMARCAL1	99	68.323	ENSONIG00000009036	smarcal1	100	63.368	Oreochromis_niloticus
ENSG00000138375	SMARCAL1	99	68.323	ENSORLG00000016455	SMARCAL1	96	51.023	Oryzias_latipes
ENSG00000138375	SMARCAL1	99	68.323	ENSORLG00020001610	SMARCAL1	96	50.913	Oryzias_latipes_hni
ENSG00000138375	SMARCAL1	99	68.323	ENSORLG00015001865	SMARCAL1	96	51.130	Oryzias_latipes_hsok
ENSG00000138375	SMARCAL1	99	67.702	ENSOMEG00000001845	smarcal1	88	56.471	Oryzias_melastigma
ENSG00000138375	SMARCAL1	99	63.975	ENSPMGG00000019092	SMARCAL1	78	59.798	Periophthalmus_magnuspinnatus
ENSG00000138375	SMARCAL1	99	75.000	ENSPCIG00000022514	SMARCAL1	99	62.721	Phascolarctos_cinereus
ENSG00000138375	SMARCAL1	99	65.217	ENSPFOG00000000560	SMARCAL1	78	59.520	Poecilia_formosa
ENSG00000138375	SMARCAL1	99	65.217	ENSPMEG00000018146	SMARCAL1	78	59.520	Poecilia_mexicana
ENSG00000138375	SMARCAL1	99	63.750	ENSPREG00000009591	SMARCAL1	78	68.981	Poecilia_reticulata
ENSG00000138375	SMARCAL1	99	65.217	ENSPNAG00000014900	smarcal1	94	53.154	Pygocentrus_nattereri
ENSG00000138375	SMARCAL1	99	74.214	ENSSHAG00000013538	SMARCAL1	100	58.411	Sarcophilus_harrisii
ENSG00000138375	SMARCAL1	99	65.217	ENSSMAG00000010427	SMARCAL1	99	49.689	Scophthalmus_maximus
ENSG00000138375	SMARCAL1	99	67.702	ENSSDUG00000017470	SMARCAL1	95	51.116	Seriola_dumerili
ENSG00000138375	SMARCAL1	99	66.460	ENSSLDG00000007224	SMARCAL1	97	50.266	Seriola_lalandi_dorsalis
ENSG00000138375	SMARCAL1	99	72.500	ENSSPUG00000015369	SMARCAL1	99	56.238	Sphenodon_punctatus
ENSG00000138375	SMARCAL1	99	67.081	ENSSPAG00000003742	smarcal1	82	63.396	Stegastes_partitus
ENSG00000138375	SMARCAL1	99	80.000	ENSSSCG00000035501	SMARCAL1	99	71.826	Sus_scrofa
ENSG00000138375	SMARCAL1	99	69.375	ENSTGUG00000005079	SMARCAL1	100	68.796	Taeniopygia_guttata
ENSG00000138375	SMARCAL1	99	65.839	ENSTRUG00000010701	SMARCAL1	92	53.066	Takifugu_rubripes
ENSG00000138375	SMARCAL1	100	100.000	ENSTTRG00000009001	SMARCAL1	100	70.355	Tursiops_truncatus
ENSG00000138375	SMARCAL1	99	66.250	ENSXETG00000000465	smarcal1	97	55.979	Xenopus_tropicalis

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000733	DNA strand renaturation	-	IEA	Process
GO:0004386	helicase activity	-	IEA	Function
GO:0005515	protein binding	19793862.19793863.24126761.24910198.	IPI	Function
GO:0005524	ATP binding	-	IEA	Function
GO:0005634	nucleus	21873635.	IBA	Component
GO:0005634	nucleus	18974355.	IDA	Component
GO:0005654	nucleoplasm	-	IDA	Component
GO:0005662	DNA replication factor A complex	21873635.	IBA	Component
GO:0005662	DNA replication factor A complex	19793862.19793863.	IDA	Component
GO:0006259	DNA metabolic process	18974355.	IMP	Process
GO:0006281	DNA repair	21873635.	IBA	Process
GO:0006357	regulation of transcription by RNA polymerase II	18974355.	IMP	Process
GO:0006974	cellular response to DNA damage stimulus	21873635.	IBA	Process
GO:0006974	cellular response to DNA damage stimulus	19793862.	IMP	Process
GO:0008094	DNA-dependent ATPase activity	18974355.	IMP	Function
GO:0031297	replication fork processing	21873635.	IBA	Process
GO:0031297	replication fork processing	19793862.	IMP	Process
GO:0031297	replication fork processing	27918544.	TAS	Process
GO:0035861	site of double-strand break	19793862.19793863.	IDA	Component
GO:0036292	DNA rewinding	21873635.	IBA	Process
GO:0036310	annealing helicase activity	21873635.	IBA	Function
GO:0036310	annealing helicase activity	22705370.	IDA	Function
GO:0036310	annealing helicase activity	18974355.	IMP	Function
GO:0043596	nuclear replication fork	21873635.	IBA	Component
GO:0048478	replication fork protection	21873635.	IBA	Process
GO:0090656	t-circle formation	27918544.	TAS	Process