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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	2009
Gene name	EMAP like 1
Gene symbol	EML1
Synonyms (NCBI Gene)	BHELP79EMAPEMAP-1EMAPL
Chromosome	14
Chromosome location	14q32.2
Summary	Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs886037935	C>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, synonymous variant
rs886037936	A>G	Pathogenic	Coding sequence variant, missense variant
rs886037937	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555404109	C>T	Pathogenic	Stop gained, coding sequence variant

118

Show/Hide all (118)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023114	hsa-miR-124-3p	Microarray	18668037
MIRT024499	hsa-miR-215-5p	Microarray	19074876
MIRT026844	hsa-miR-192-5p	Microarray	19074876
MIRT046216	hsa-miR-27b-3p	CLASH	23622248
MIRT046216	hsa-miR-27b-3p	CLASH	23622248
MIRT036360	hsa-miR-1229-3p	CLASH	23622248
MIRT036360	hsa-miR-1229-3p	CLASH	23622248
MIRT962056	hsa-miR-3611	CLIP-seq
MIRT962057	hsa-miR-377	CLIP-seq
MIRT962058	hsa-miR-4272	CLIP-seq
MIRT962059	hsa-miR-4455	CLIP-seq
MIRT962060	hsa-miR-4709-3p	CLIP-seq
MIRT962061	hsa-miR-4795-3p	CLIP-seq
MIRT962062	hsa-miR-513a-3p	CLIP-seq
MIRT962063	hsa-miR-592	CLIP-seq
MIRT962064	hsa-miR-597	CLIP-seq
MIRT962065	hsa-miR-600	CLIP-seq
MIRT962066	hsa-miR-609	CLIP-seq
MIRT962067	hsa-miR-892a	CLIP-seq
MIRT962068	hsa-miR-128	CLIP-seq
MIRT962069	hsa-miR-181a	CLIP-seq
MIRT962070	hsa-miR-181b	CLIP-seq
MIRT962071	hsa-miR-181c	CLIP-seq
MIRT962072	hsa-miR-181d	CLIP-seq
MIRT962073	hsa-miR-2355-5p	CLIP-seq
MIRT962074	hsa-miR-27a	CLIP-seq
MIRT962075	hsa-miR-27b	CLIP-seq
MIRT962076	hsa-miR-300	CLIP-seq
MIRT962077	hsa-miR-345	CLIP-seq
MIRT962078	hsa-miR-381	CLIP-seq
MIRT962079	hsa-miR-4256	CLIP-seq
MIRT962080	hsa-miR-4262	CLIP-seq
MIRT962081	hsa-miR-4282	CLIP-seq
MIRT962082	hsa-miR-4666-3p	CLIP-seq
MIRT962083	hsa-miR-4699-5p	CLIP-seq
MIRT962084	hsa-miR-4762-3p	CLIP-seq
MIRT962085	hsa-miR-494	CLIP-seq
MIRT962086	hsa-miR-548c-3p	CLIP-seq
MIRT962087	hsa-miR-556-3p	CLIP-seq
MIRT962088	hsa-miR-601	CLIP-seq
MIRT1985061	hsa-miR-1200	CLIP-seq
MIRT1985062	hsa-miR-1205	CLIP-seq
MIRT1985063	hsa-miR-1245	CLIP-seq
MIRT962068	hsa-miR-128	CLIP-seq
MIRT962074	hsa-miR-27a	CLIP-seq
MIRT962075	hsa-miR-27b	CLIP-seq
MIRT1985064	hsa-miR-3074-5p	CLIP-seq
MIRT1985065	hsa-miR-3117-3p	CLIP-seq
MIRT1985066	hsa-miR-3127-5p	CLIP-seq
MIRT1985067	hsa-miR-3182	CLIP-seq
MIRT1985068	hsa-miR-3616-3p	CLIP-seq
MIRT1985069	hsa-miR-3616-5p	CLIP-seq
MIRT1985070	hsa-miR-3647-5p	CLIP-seq
MIRT1985071	hsa-miR-3918	CLIP-seq
MIRT1985072	hsa-miR-421	CLIP-seq
MIRT1985073	hsa-miR-4324	CLIP-seq
MIRT1985074	hsa-miR-4328	CLIP-seq
MIRT1985075	hsa-miR-4462	CLIP-seq
MIRT1985076	hsa-miR-4464	CLIP-seq
MIRT1985077	hsa-miR-4470	CLIP-seq
MIRT1985078	hsa-miR-4639-3p	CLIP-seq
MIRT962060	hsa-miR-4709-3p	CLIP-seq
MIRT1985079	hsa-miR-4709-5p	CLIP-seq
MIRT1985080	hsa-miR-4711-3p	CLIP-seq
MIRT1985081	hsa-miR-4748	CLIP-seq
MIRT1985082	hsa-miR-4795-5p	CLIP-seq
MIRT1985083	hsa-miR-544b	CLIP-seq
MIRT1985084	hsa-miR-548ag	CLIP-seq
MIRT1985085	hsa-miR-548ai	CLIP-seq
MIRT1985086	hsa-miR-573	CLIP-seq
MIRT1985087	hsa-miR-651	CLIP-seq
MIRT1985088	hsa-miR-658	CLIP-seq
MIRT1985061	hsa-miR-1200	CLIP-seq
MIRT2219873	hsa-miR-2115	CLIP-seq
MIRT1985064	hsa-miR-3074-5p	CLIP-seq
MIRT1985067	hsa-miR-3182	CLIP-seq
MIRT2219874	hsa-miR-331-3p	CLIP-seq
MIRT1985073	hsa-miR-4324	CLIP-seq
MIRT1985074	hsa-miR-4328	CLIP-seq
MIRT1985076	hsa-miR-4464	CLIP-seq
MIRT2219875	hsa-miR-4502	CLIP-seq
MIRT1985078	hsa-miR-4639-3p	CLIP-seq
MIRT1985081	hsa-miR-4748	CLIP-seq
MIRT962062	hsa-miR-513a-3p	CLIP-seq
MIRT2219876	hsa-miR-516a-3p	CLIP-seq
MIRT1985083	hsa-miR-544b	CLIP-seq
MIRT2219877	hsa-miR-885-5p	CLIP-seq
MIRT2436959	hsa-miR-219-2-3p	CLIP-seq
MIRT2436960	hsa-miR-2964a-3p	CLIP-seq
MIRT2436961	hsa-miR-302f	CLIP-seq
MIRT962061	hsa-miR-4795-3p	CLIP-seq
MIRT962065	hsa-miR-600	CLIP-seq
MIRT2523555	hsa-miR-10a	CLIP-seq
MIRT2523556	hsa-miR-10b	CLIP-seq
MIRT2523557	hsa-miR-1183	CLIP-seq
MIRT2523558	hsa-miR-1468	CLIP-seq
MIRT2523559	hsa-miR-3177-5p	CLIP-seq
MIRT2523560	hsa-miR-370	CLIP-seq
MIRT2523561	hsa-miR-3912	CLIP-seq
MIRT2523562	hsa-miR-4711-5p	CLIP-seq
MIRT2523563	hsa-miR-4715-3p	CLIP-seq
MIRT2523564	hsa-miR-614	CLIP-seq
MIRT2523555	hsa-miR-10a	CLIP-seq
MIRT2523556	hsa-miR-10b	CLIP-seq
MIRT2679985	hsa-miR-1258	CLIP-seq
MIRT2679986	hsa-miR-223	CLIP-seq
MIRT2523559	hsa-miR-3177-5p	CLIP-seq
MIRT1985069	hsa-miR-3616-5p	CLIP-seq
MIRT1985070	hsa-miR-3647-5p	CLIP-seq
MIRT2523560	hsa-miR-370	CLIP-seq
MIRT2679987	hsa-miR-3978	CLIP-seq
MIRT2679988	hsa-miR-4261	CLIP-seq
MIRT2679989	hsa-miR-4266	CLIP-seq
MIRT2679990	hsa-miR-4738-3p	CLIP-seq
MIRT1985086	hsa-miR-573	CLIP-seq
MIRT2523564	hsa-miR-614	CLIP-seq
MIRT2679991	hsa-miR-890	CLIP-seq
MIRT2679992	hsa-miR-935	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	ISS
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0005509	Function	Calcium ion binding	NAS	9226380
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 21653829, 25036637, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	25740311
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	TAS	9226380
GO:0007052	Process	Mitotic spindle organization	IEA
GO:0007052	Process	Mitotic spindle organization	ISS
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007405	Process	Neuroblast proliferation	ISS
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	24859200
GO:0007420	Process	Brain development	ISS
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	IMP	24859200
GO:0008017	Function	Microtubule binding	ISS
GO:0015630	Component	Microtubule cytoskeleton	IDA	24859200
GO:0015631	Function	Tubulin binding	IDA	24706829
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0072686	Component	Mitotic spindle	IBA
GO:0097431	Component	Mitotic spindle pole	IEA
GO:0097431	Component	Mitotic spindle pole	ISS
GO:1990023	Component	Mitotic spindle midzone	IEA
GO:1990023	Component	Mitotic spindle midzone	ISS

MIM	HGNC	e!Ensembl
602033	3330	ENSG00000066629

O00423

Protein name

Echinoderm microtubule-associated protein-like 1 (EMAP-1) (HuEMAP-1)

Protein function

Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuro

PDB

4CI8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03451	HELP	185 → 259	HELP motif	Family
PF00400	WD40	261 → 309	WD domain, G-beta repeat	Repeat
PF00400	WD40	615 → 653	WD domain, G-beta repeat	Repeat
PF00400	WD40	662 → 700	WD domain, G-beta repeat	Repeat
PF00400	WD40	774 → 813	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes. {ECO:0000269|PubMed:10521658}.

Sequence

MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIASLEQRVQMQEDDIQLLKSALA
DVVRRLNITEEQQAVLNRKGPTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKE
TAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGSTSSSSSGKKNSESKPKEPVF
SAEEGYVKMFLRGRPVTMYMPKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYL
LPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVHPDRITIATGQVAGTSKDGKQ
LPPHVRIWDSVTLNTLHVIGIGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQK
EEKLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTLEGSSLNKKQGLFEKQEKPKF
VLCVTFSENGDTITGDSSGNILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGK
DRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIGTTRNFVLQGTLSGDFTPITQ
GHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVA
VGTLTGRWFVFDTETKDLVTVHTDGNEQLSVMRYSPDGNFLAIGSHDNCIYIYGVSDNGR
KYTRVGKCSGHSSFITHLDWSVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWAT
YTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDFGKVHLFSYPCSQFRAPSHIY
GGHSSHVTNVDFLCEDSHLISTGGKDTSIMQWRVI

Sequence length

815

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Band heterotopia of brain	Likely pathogenic; Pathogenic	rs2060118585, rs2060059941, rs2548789633, rs886037935, rs886037936, rs886037937, rs1555404109	RCV001329250 RCV001333245 RCV002291375 RCV000240860 RCV000240858 RCV000240859 RCV000660884 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EML1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21110024		★★★★★ ★☆☆☆☆ Found in Text Mining only
BAND HETEROTOPIA	Band Heterotopia	UNIPROT_DG	24859200, 28556411		★★★★★ ★☆☆☆☆ Found in Text Mining only
BAND HETEROTOPIA	Band Heterotopia	GENOMICS_ENGLAND_DG	24859200, 28556411		★★★★★ ★☆☆☆☆ Found in Text Mining only
BAND HETEROTOPIA	Band Heterotopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Band Heterotopia of Brain	Band Heterotopia Of Brain	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	34211111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	34211111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	28556411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30219690		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	21110024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	BEFREE	24859200, 31173351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	34211111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15713800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	ORPHANET_DG	24859200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

EML1 (EMAP like 1)