Gene Gene information from NCBI Gene database.
Entrez ID 84460
Gene name Zinc finger matrin-type 1
Gene symbol ZMAT1
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xq22.1
Summary This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
miRNA miRNA information provided by mirtarbase database.
54
miRTarBase ID miRNA Experiments Reference
MIRT018428 hsa-miR-335-5p Microarray 18185580
MIRT709972 hsa-miR-548n HITS-CLIP 19536157
MIRT709971 hsa-miR-548az-5p HITS-CLIP 19536157
MIRT709970 hsa-miR-548t-5p HITS-CLIP 19536157
MIRT709969 hsa-miR-6507-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IEA
GO:0008270 Function Zinc ion binding IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301007 29377 ENSG00000166432
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5H9K5
Protein name Zinc finger matrin-type protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12874 zf-met 56 80 Domain
PF12874 zf-met 121 145 Domain
PF12874 zf-met 175 199 Domain
Sequence
MESCSVTRLECSGAISAHCSLHLPGSSDSPASASQIAGTTDAIWNEQEKAELFTDKFCQV
CGVMLQFESQRISHYEGEKH
AQNVSFYFQMHGEQNEVPGKKMKMHVENFQVHRYEGVDKN
KFCDLCNMMFSSPLIAQSHYVGKVHAKKLKQLMEEHDQASPSGFQPEMAFSMRTYVCHIC
SIAFTSLDMFRSHMQGSEH
QIKESIVINLVKNSRKTQDSYQNECADYINVQKARGLEAKT
CFRKMEESSLETRRYREVVDSRPRHRMFEQRLPFETFRTYAAPYNISQAMEKQLPHSKKT
YDSFQDELEDYIKVQKARGLDPKTCFRKMRENSVDTHGYREMVDSGPRSRMCEQRFSHEA
SQTYQRPYHISPVESQLPQWLPTHSKRTYDSFQDELEDYIKVQKARGLEPKTCFRKIGDS
SVETHRNREMVDVRPRHRMLEQKLPCETFQTYSGPYSISQVVENQLPHCLPAHDSKQRLD
SISYCQLTRDCFPEKPVPLSLNQQENNSGSYSVESEVYKHLSSENNTADHQAGHKQKHQK
RKRHLEEGKERPEKEQSKHKRKKSYEDTDLDKDKSIRQRKREEDRVKVSSGKLKHRKKKK
SHDVPSEKEERKHRKEKKKSVEERTEEEMLWDESILGF
Sequence length 638
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
Abnormality of neuronal migration Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Pancreatic Ductal Inhibit 35392973
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 32751923
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Associate 26191264
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 35392973
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Inhibit 35392973
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Inhibit 26191264
★☆☆☆☆
Found in Text Mining only