Gene Gene information from NCBI Gene database.
Entrez ID 57475
Gene name Pleckstrin homology, MyTH4 and FERM domain containing H1
Gene symbol PLEKHH1
Synonyms (NCBI Gene)
-
Chromosome 14
Chromosome location 14q24.1
miRNA miRNA information provided by mirtarbase database.
643
miRTarBase ID miRNA Experiments Reference
MIRT025661 hsa-miR-7-5p Microarray 19073608
MIRT672157 hsa-miR-4796-3p HITS-CLIP 23824327
MIRT672156 hsa-miR-520g-3p HITS-CLIP 23824327
MIRT672155 hsa-miR-520h HITS-CLIP 23824327
MIRT672154 hsa-miR-383-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULM0
Protein name Pleckstrin homology domain-containing family H member 1 (PH domain-containing family H member 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 579 672 PH domain Domain
PF00784 MyTH4 877 985 MyTH4 domain Family
PF00373 FERM_M 1102 1230 FERM central domain Domain
Sequence
MAELKVEAPASVDWQKRCLTLETQLFRFRLQASKIRELLADKMQELEQRLLEAEQRAENA
ETQVGVMEEKVKLSNLKNVDSEGSLHRKYQELLKAIKGKDELISQLEAQLEKQKQMRAEE
AKTVQEKAAKIKEWVTLKLAKLEMENQHLKSHNQRLVEQVGSLQDALEAIQIAPSRKLLV
PPYGAAEQDSVPSEPGIQPMGQDSGSQAQGLKAAVLAPSPGALQSKDSVSEAASPLEDSS
SSTVHSGETVEAKPLQPHLGRESPPHQPCMKLLTFRCSSASWGEGLVTAQRGMLPGTKTS
AREGGPGSSLTLPKVRAPGTPRDSIQLAKRHHSQPQVGHGHFGRVVNIETEAFSALHPSG
LPELESRARSREEPEKMEMEEPPPAGKNEERESPKALGAELEEVELGNKPPTPPLHQFSS
WESRIYAVATSGMRLSDMSPRSNTACCASSPPALVSPGSFSGLVYKNVTVPVYTALKGRA
TQISNMPFMDESSGSDDDCSSQASFRISVPSSESRKTSGLGSPRAIKRGVSMSSLSSEGD
YAIPPDACSLDSDYSEPEHKLQRTSSYSTDGLGLGGESLEKSGYLLKMGSQVKTWKRRWF
VLRQGQIMYYKSPSDVIRKPQGQVDLNSRCQIVRGEGSQTFQLISEKKTYYLTADSPSLL
EEWIRVLQSLLK
VQATGPPALLRGGTKPTVKGWLTKVKHGHSKVVWCALVGKIFYYYRSH
EDKRPLGCLPVRDAHIEEVDRSCDSDEDYEAGGTRRLLSSHCTLVIHPTEHSPTYLLIGT
KHEKDTWLYHLTVAAGGSSAKVGTAYEQLIGKLMDGEGDPDSPLWRHPMLCYSKDGLYAS
LTTLPSEALQTEALKLFKSCQLFINVPVEAASVDYHVSLAQTALQVCLVHPELQSEIYCQ
LMKQTSCRPPQKYSLMQCWQLLALCAPLFLPQHHFLWYVKQQLQRHADPRSETGQYATYC
QRAVERTLRTGEREARPSRMEVVSI
LLRNPFHHSLPFSIPVHFTNGTYHVVGFDGSSTVD
EFLQRLNQEIGMRKPSHSGFALFTDDPSGRDLEHCLQGSVKICDAISKWEQAMKELHPGK
SEGGTRVVKLMYKNRLYFRSQVKGETDRERLLLASQTSREIVAGRFPINKELALEMAALM
AQVEYGDLEKPALPGPGGTSPAKAQHLLQQVLDRFHPRRYRHGAPAEQLRHLADMLTTKW
ATLQGCSPPECIRIYLTVARKWPFFGAKLF
AAQPAQLSSKENALVWIAVNEDGVSILDHN
TMQVHITYPYSSVTTFGGCRDDFMLVIRSIPDKSSGKSHIEKLIFRMAAPKIAEATFIMA
SYMNHCTTTVNPPTNPPGACQLWELDGRQFFSSVSCATKGPTLL
Sequence length 1364
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations