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	4081
Gene name	Mab-21 like 1
Gene symbol	MAB21L1
Synonyms (NCBI Gene)	CAGR1COFGNbla00126
Chromosome	13
Chromosome location	13q13.3
Summary	This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5` UTR may play a role in a variety of

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051920	hsa-let-7b-5p	CLASH	23622248
MIRT1124725	hsa-miR-1	CLIP-seq
MIRT1124726	hsa-miR-1262	CLIP-seq
MIRT1124727	hsa-miR-1273f	CLIP-seq
MIRT1124728	hsa-miR-143	CLIP-seq
MIRT1124729	hsa-miR-206	CLIP-seq
MIRT1124730	hsa-miR-219-2-3p	CLIP-seq
MIRT1124731	hsa-miR-3121-3p	CLIP-seq
MIRT1124732	hsa-miR-3127-3p	CLIP-seq
MIRT1124733	hsa-miR-3151	CLIP-seq
MIRT1124734	hsa-miR-3673	CLIP-seq
MIRT1124735	hsa-miR-3688-3p	CLIP-seq
MIRT1124736	hsa-miR-4265	CLIP-seq
MIRT1124737	hsa-miR-4296	CLIP-seq
MIRT1124738	hsa-miR-4322	CLIP-seq
MIRT1124739	hsa-miR-433	CLIP-seq
MIRT1124740	hsa-miR-4447	CLIP-seq
MIRT1124741	hsa-miR-4472	CLIP-seq
MIRT1124742	hsa-miR-4651	CLIP-seq
MIRT1124743	hsa-miR-4701-3p	CLIP-seq
MIRT1124744	hsa-miR-4708-5p	CLIP-seq
MIRT1124745	hsa-miR-4770	CLIP-seq
MIRT1124746	hsa-miR-4773	CLIP-seq
MIRT1124747	hsa-miR-491-5p	CLIP-seq
MIRT1124748	hsa-miR-511	CLIP-seq
MIRT1124749	hsa-miR-600	CLIP-seq
MIRT1124750	hsa-miR-608	CLIP-seq
MIRT1124751	hsa-miR-613	CLIP-seq
MIRT1921264	hsa-miR-1253	CLIP-seq
MIRT1921265	hsa-miR-3154	CLIP-seq
MIRT1921266	hsa-miR-580	CLIP-seq
MIRT2035240	hsa-miR-1324	CLIP-seq
MIRT2035241	hsa-miR-3676	CLIP-seq
MIRT2035242	hsa-miR-3680	CLIP-seq
MIRT2035243	hsa-miR-4798-3p	CLIP-seq
MIRT2035244	hsa-miR-501-3p	CLIP-seq
MIRT2035245	hsa-miR-502-3p	CLIP-seq
MIRT2035246	hsa-miR-579	CLIP-seq
MIRT2265681	hsa-miR-1245b-3p	CLIP-seq
MIRT2265682	hsa-miR-1305	CLIP-seq
MIRT2035240	hsa-miR-1324	CLIP-seq
MIRT2035241	hsa-miR-3676	CLIP-seq
MIRT2035242	hsa-miR-3680	CLIP-seq
MIRT2265683	hsa-miR-3942-3p	CLIP-seq
MIRT2035243	hsa-miR-4798-3p	CLIP-seq
MIRT2265684	hsa-miR-582-5p	CLIP-seq
MIRT2265685	hsa-miR-607	CLIP-seq
MIRT2430889	hsa-miR-1297	CLIP-seq
MIRT2265682	hsa-miR-1305	CLIP-seq
MIRT2430890	hsa-miR-1825	CLIP-seq
MIRT2430891	hsa-miR-199a-5p	CLIP-seq
MIRT2430892	hsa-miR-199b-5p	CLIP-seq
MIRT2430893	hsa-miR-26a	CLIP-seq
MIRT2430894	hsa-miR-26b	CLIP-seq
MIRT2430895	hsa-miR-3065-5p	CLIP-seq
MIRT2430896	hsa-miR-30a	CLIP-seq
MIRT2430897	hsa-miR-30b	CLIP-seq
MIRT2430898	hsa-miR-30c	CLIP-seq
MIRT2430899	hsa-miR-30d	CLIP-seq
MIRT2430900	hsa-miR-30e	CLIP-seq
MIRT2430901	hsa-miR-320e	CLIP-seq
MIRT2430902	hsa-miR-3671	CLIP-seq
MIRT2265683	hsa-miR-3942-3p	CLIP-seq
MIRT2430903	hsa-miR-410	CLIP-seq
MIRT2430904	hsa-miR-4272	CLIP-seq
MIRT2430905	hsa-miR-4465	CLIP-seq
MIRT2430906	hsa-miR-4495	CLIP-seq
MIRT2430907	hsa-miR-4668-3p	CLIP-seq
MIRT2430908	hsa-miR-4698	CLIP-seq
MIRT2430909	hsa-miR-4719	CLIP-seq
MIRT2430910	hsa-miR-4729	CLIP-seq
MIRT2430911	hsa-miR-4735-5p	CLIP-seq
MIRT2430912	hsa-miR-4760-3p	CLIP-seq
MIRT2430913	hsa-miR-4795-3p	CLIP-seq
MIRT2430914	hsa-miR-4799-5p	CLIP-seq
MIRT2430915	hsa-miR-494	CLIP-seq
MIRT2430916	hsa-miR-498	CLIP-seq
MIRT2430917	hsa-miR-519a	CLIP-seq
MIRT2430918	hsa-miR-519b-3p	CLIP-seq
MIRT2430919	hsa-miR-519c-3p	CLIP-seq
MIRT2430920	hsa-miR-548a-5p	CLIP-seq
MIRT2430921	hsa-miR-548aa	CLIP-seq
MIRT2430922	hsa-miR-548ab	CLIP-seq
MIRT2430923	hsa-miR-548ac	CLIP-seq
MIRT2430924	hsa-miR-548ae	CLIP-seq
MIRT2430925	hsa-miR-548aj	CLIP-seq
MIRT2430926	hsa-miR-548ak	CLIP-seq
MIRT2430927	hsa-miR-548am	CLIP-seq
MIRT2430928	hsa-miR-548b-5p	CLIP-seq
MIRT2430929	hsa-miR-548c-5p	CLIP-seq
MIRT2430930	hsa-miR-548d-3p	CLIP-seq
MIRT2430931	hsa-miR-548d-5p	CLIP-seq
MIRT2430932	hsa-miR-548h	CLIP-seq
MIRT2430933	hsa-miR-548i	CLIP-seq
MIRT2430934	hsa-miR-548j	CLIP-seq
MIRT2430935	hsa-miR-548n	CLIP-seq
MIRT2430936	hsa-miR-548w	CLIP-seq
MIRT2430937	hsa-miR-548x	CLIP-seq
MIRT2430938	hsa-miR-548y	CLIP-seq
MIRT2430939	hsa-miR-548z	CLIP-seq
MIRT2430940	hsa-miR-556-3p	CLIP-seq
MIRT2430941	hsa-miR-559	CLIP-seq
MIRT2430942	hsa-miR-561	CLIP-seq
MIRT2265685	hsa-miR-607	CLIP-seq
MIRT2430943	hsa-miR-634	CLIP-seq
MIRT2430944	hsa-miR-944	CLIP-seq
MIRT1921264	hsa-miR-1253	CLIP-seq
MIRT1921265	hsa-miR-3154	CLIP-seq
MIRT1921266	hsa-miR-580	CLIP-seq
MIRT1921264	hsa-miR-1253	CLIP-seq
MIRT1921265	hsa-miR-3154	CLIP-seq
MIRT1921266	hsa-miR-580	CLIP-seq
MIRT2430908	hsa-miR-4698	CLIP-seq
MIRT2565080	hsa-miR-520d-5p	CLIP-seq
MIRT2565081	hsa-miR-524-5p	CLIP-seq
MIRT2430908	hsa-miR-4698	CLIP-seq
MIRT2565080	hsa-miR-520d-5p	CLIP-seq
MIRT2565081	hsa-miR-524-5p	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	IMP	27103078, 30487245
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	8733127
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
601280	6757	ENSG00000180660

Q13394

Protein name

Putative nucleotidyltransferase MAB21L1 (EC 2.7.7.-) (Protein mab-21-like 1)

Protein function

Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (PubMed:27103078, PubMed:30487245). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:2

PDB

5EOG , 5EOM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03281	Mab-21	62 → 344	Mab-21 protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, cerebellum and skeletal muscle. {ECO:0000269|PubMed:8733127}.

Sequence

MIAAQAKLVYHLNKYYNEKCQARKAAIAKTIREVCKVVSDVLKEVEVQEPRFISSLNEMD
NRYEGLEVISPTEFEVVLYLNQMGVFNFVDDGSLPGCAVLKLSDGRKRSMSLWVEFITAS
GYLSARKIRSRFQTLVAQAVDKCSYRDVVKMVADTSEVKLRIRDRYVVQITPAFKCTGIW
PRSAAHWPLPHIPWPGPNRVAEVKAEGFNLLSKECHSLAGKQSSAESDAWVLQFAEAENR
LQMGGCRKKCLSILKTLRDRHLELPGQPLNNYHMKTLVSYECEKHPRESDWDESCLGDRL
NGILLQLISCLQCRRCPHYFLPNLDLFQGKPHSALENAAKQTWRLAREILTNPKSLEKL

Sequence length

359

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar, ocular, craniofacial, and genital syndrome	Pathogenic	rs1566188955, rs1566188537, rs1566188475, rs1566188524, rs1566189161	RCV000785783 RCV000785784 RCV000785785 RCV000785786 RCV000785787	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplasia of scrotum	Likely pathogenic	rs1594757530	RCV000824876	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

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.
CONGENITAL LABIOSCROTAL AGENESIS, CEREBELLAR MALFORMATION, CORNEAL DYSTROPHY, FACIAL DYSMORPHISM SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LABIOSCROTAL AGENESIS-CEREBELLAR MALFORMATION-CORNEAL DYSTROPHY-FACIAL DYSMORPHISM SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAB21L1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia	Ataxia	Pubtator	30487245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	12826745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	GENOMICS_ENGLAND_DG	30487245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	30487245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	30487245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30487245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	30487245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30487245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	38130930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30487245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30487245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	12826745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	15526290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30487245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34573300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	9152839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	15526290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30487245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	30487245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MAB21L1 (mab-21 like 1)