Gene Gene information from NCBI Gene database.
Entrez ID 283254
Gene name Harbinger transposase derived 1
Gene symbol HARBI1
Synonyms (NCBI Gene)
C11orf77
Chromosome 11
Chromosome location 11p11.2
miRNA miRNA information provided by mirtarbase database.
70
miRTarBase ID miRNA Experiments Reference
MIRT620115 hsa-miR-4781-3p HITS-CLIP 23824327
MIRT620114 hsa-miR-4716-5p HITS-CLIP 23824327
MIRT620113 hsa-miR-3663-5p HITS-CLIP 23824327
MIRT620112 hsa-miR-4635 HITS-CLIP 23824327
MIRT620111 hsa-miR-3655 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0004518 Function Nuclease activity IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615086 26522 ENSG00000180423
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96MB7
Protein name Putative nuclease HARBI1 (EC 3.1.-.-) (Harbinger transposase-derived nuclease)
Protein function Transposase-derived protein that may have nuclease activity (Potential). Does not have transposase activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13359 DDE_Tnp_4 148 300 DDE superfamily endonuclease Domain
Tissue specificity TISSUE SPECIFICITY: Detected in brain, eye, nerve tissue, kidney and lung. {ECO:0000269|PubMed:15169610}.
Sequence
MAIPITVLDCDLLLYGRGHRTLDRFKLDDVTDEYLMSMYGFPRQFIYYLVELLGANLSRP
TQRSRAISPETQVLAALGFYTSGSFQTRMGDAIGISQASMSRCVANVTEALVERASQFIR
FPADEASIQALKDEFYGLAGMPGVMGVVDCIHVAIKAPNAEDLSYVNRKGLHSLNCLMVC
DIRGTLMTVETNWPGSLQDCAVLQQSSLSSQFEAGMHKDSWLLGDSSFFLRTWLMTPLHI
PETPAEYRYNMAHSATHSVIEKTFRTLCSRFRCLDGSKGALQYSPEKSSHIILACCVLHN

ISLEHGMDVWSSPMTGPMEQPPEEEYEHMESLDLEADRIRQELMLTHFS
Sequence length 349
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
TYPE 1 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations