Gene Gene information from NCBI Gene database.
Entrez ID 101060226
Gene name NBPF member 19
Gene symbol NBPF19
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.2
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:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614006 31999 ENSG00000271383
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0A087WUL8
Protein name NBPF family member NBPF19 (Neuroblastoma breakpoint family member 19)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06758 Olduvai 178 240 Olduvai domain Domain
PF06758 Olduvai 264 326 Olduvai domain Domain
PF06758 Olduvai 336 401 Olduvai domain Domain
PF06758 Olduvai 411 476 Olduvai domain Domain
PF06758 Olduvai 486 551 Olduvai domain Domain
PF06758 Olduvai 580 645 Olduvai domain Domain
PF06758 Olduvai 655 720 Olduvai domain Domain
PF06758 Olduvai 730 795 Olduvai domain Domain
PF06758 Olduvai 824 889 Olduvai domain Domain
PF06758 Olduvai 899 964 Olduvai domain Domain
PF06758 Olduvai 974 1039 Olduvai domain Domain
PF06758 Olduvai 1068 1133 Olduvai domain Domain
PF06758 Olduvai 1143 1208 Olduvai domain Domain
PF06758 Olduvai 1218 1283 Olduvai domain Domain
PF06758 Olduvai 1312 1377 Olduvai domain Domain
PF06758 Olduvai 1387 1452 Olduvai domain Domain
PF06758 Olduvai 1462 1527 Olduvai domain Domain
PF06758 Olduvai 1556 1621 Olduvai domain Domain
PF06758 Olduvai 1631 1696 Olduvai domain Domain
PF06758 Olduvai 1706 1771 Olduvai domain Domain
PF06758 Olduvai 1800 1865 Olduvai domain Domain
PF06758 Olduvai 1875 1940 Olduvai domain Domain
PF06758 Olduvai 1950 2015 Olduvai domain Domain
PF06758 Olduvai 2044 2109 Olduvai domain Domain
PF06758 Olduvai 2119 2184 Olduvai domain Domain
PF06758 Olduvai 2194 2259 Olduvai domain Domain
PF06758 Olduvai 2288 2353 Olduvai domain Domain
PF06758 Olduvai 2363 2428 Olduvai domain Domain
PF06758 Olduvai 2438 2503 Olduvai domain Domain
PF06758 Olduvai 2532 2597 Olduvai domain Domain
PF06758 Olduvai 2607 2672 Olduvai domain Domain
PF06758 Olduvai 2682 2747 Olduvai domain Domain
PF06758 Olduvai 2776 2841 Olduvai domain Domain
PF06758 Olduvai 2851 2916 Olduvai domain Domain
PF06758 Olduvai 2926 2991 Olduvai domain Domain
PF06758 Olduvai 3020 3085 Olduvai domain Domain
PF06758 Olduvai 3095 3160 Olduvai domain Domain
PF06758 Olduvai 3170 3235 Olduvai domain Domain
PF06758 Olduvai 3264 3329 Olduvai domain Domain
PF06758 Olduvai 3339 3404 Olduvai domain Domain
PF06758 Olduvai 3414 3479 Olduvai domain Domain
PF06758 Olduvai 3508 3573 Olduvai domain Domain
PF06758 Olduvai 3583 3648 Olduvai domain Domain
PF06758 Olduvai 3658 3723 Olduvai domain Domain
PF06758 Olduvai 3752 3817 Olduvai domain Domain
Sequence
MVVSAGPWSSEKAEMNILEINETLRPQLAEKKQQFRNLKEKCFLTQLAGFLANRQKKYKY
EECKDLIKFMLRNERQFKEEKLAEQLKQAEELRQYKVLFHSQERELTQLREKLREGRDAS
RSLNEHLQALLTPDEPDKSQGQDLQEQLAEGCRLAQHLVQKLSPENDNDDDEDVQVEVAE
KVQKSSAPREMQKAEEKEVPEDSLEECAITYSNSHGPYDSNQPHRKTKITFEEDKVDSTL

IGSSSHVEWEDAVHIIPENESDDEEEEEKGPVSPRNLQESEEEEVPQESWDEGYSTLSIP
PEMLASYQSYSSTFHSLEEQQVCMAV
DIGRHRWDQVKKEDQEATGPRLSRELLDEKGPEV
LQDSLDRCYSTPSGCLELTDSCQPYRSAFYVLEQQRVGLAI
DMDEIEKYQEVEEDQDPSC
PRLSRELLDEKEPEVLQDSLDRCYSIPSGYLELPDLGQPYSSAVYSLEEQYLGLAL
DVDR
IKKDQEEEEDQDPPCPRLSRELVEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFY
ALEEKHVGFSL
DVGEIEKKGKGKKRRGRRSKKERRRGRKEGEEDQNPPCPRLSRELLDEK
GPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYILEQQCVGLAV
DMDEIEKYQEVEEDQ
DPSCPRLSRELLDEKEPEVLQDSLDRCYSIPSGYLELPDLGQPYSSAVYSLEEQYLGLAL

DVDRIKKDQEEEEDQDPPCPRLSRELVEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYG
SSFYALEEKHVGFSL
DVGEIEKKGKGKKRRGRRSKKERRRGRKEGEEDQNPPCPRLSREL
LDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYILEQQCVGLAI
DMDEIEKYQEV
EEDQDPSCPRLSRELLDEKEPEVLQDSLDRCYSIPSGYLELPDLGQPYSSAVYSLEEQYL
GLAL
DVDRIKKDQEEEEDQDPPCPRLSRELVEVVEPEVLQDSLDRCYSTPSSCLEQPDSC
QPYGSSFYALEEKHVGFSL
DVGEIEKKGKGKKRRGRRSKKERRRGRKEGEEDQNPPCPRL
SRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYILEQQCVGLAV
DMDEIEK
YQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLDRCYSIPSGYLELPDLGQPYSSAVYSLE
EQYLGLAL
DVDRIKKDQEEEEDQDPPCPRLSRELVEVVEPEVLQDSLDRCYSTPSSCLEQ
PDSCQPYGSSFYALEEKHVGFSL
DVGEIEKKGKGKKRRGRRSKKERRRGRKEGEEDQNPP
CPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYILEQQCVGLAV
DMD
EIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLDRCYSIPSGYLELPDLGQPYSSAV
YSLEEQYLGLAL
DVDRIKKDQEEEEDQDPPCPRLSRELVEVVEPEVLQDSLDRCYSTPSS
CLEQPDSCQPYGSSFYALEEKHVGFSL
DVGEIEKKGKGKKRRGRRSKKERRRGRKEGEED
QNPPCPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYILEQQCVGLA
V
DMDEIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLDRCYSIPSGYLELPDLGQPY
SSAVYSLEEQYLGLAL
DVDRIKKDQEEEEDQDPPCPRLSRELLEVVEPEVLQDSLDRCYS
TPSSCLEQPDSCQPYGSSFYALEEKHVGFSL
DVGEIEKKGKGKKRRGRRSKKERRRGRKE
GEEDQNPPCPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYILEQQC
VGLAV
DMDEIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLDRCYSTPSGYLELPDL
GQPYSSAVYSLEEQYLGLAL
DVDRIKKDQEEEEDQGPPCPRLSRELLEVVEPEVLQDSLD
RCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSL
DVGEIEKKGKGKKRRGRRSKKERRR
GRKEGEEDQNPPCPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYIL
EQQCVGLAV
DMDEIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLDRCYSTPSGYLE
LPDLGQPYSSAVYSLEEQYLGLAL
DVDRIKKDQEEEEDQGPPCPRLSRELLEVVEPEVLQ
DSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSL
DVGEIEKKGKGKKRRGRRSKK
ERRRGRKEGEEDQNPPCPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSA
FYILEQQCVGLAV
DMDEIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLDRCYSTPS
GYLELPDLGQPYSSAVYSLEEQYLGLAL
DVDRIKKDQEEEEDQGPPCPRLSRELLEVVEP
EVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSL
DVGEIEKKGKGKKRRGR
RSKKERRRGRKEGEEDQNPPCPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQP
YRSAFYILEQQCVGLAV
DMDEIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLDRCY
STPSGYLELPDLGQPYSSAVYSLEEQYLGLAL
DVDRIKKDQEEEEDQGPPCPRLSRELLE
VVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSL
DVGEIEKKGKGKK
RRGRRSKKERRRGRKEGEEDQNPPCPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTD
SCQPYRSAFYILEQQCVGLAV
DMDEIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSL
DRCYSTPSGYLELPDLGQPYSSAVYSLEEQYLGLAL
DVDRIKKDQEEEEDQGPPCPRLSR
ELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSL
DVGEIEKKG
KGKKRRGRRSKKERRRGRKEGEEDQNPPCPRLSRELLDEKGPEVLQDSLDRCYSTPSGCL
ELTDSCQPYRSAFYILEQQCVGLAV
DMDEIEKYQEVEEDQDPSCPRLSRELLAEKEPEVL
QDPLDRCYSTPSGYLELPDLGQPYSSAVYSLEEQYLGLAL
DVDRIKKDQEEEEDQGPPCP
RLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSL
DVGEI
EKKGKGKKRRGRRSKKERRRGRKEGEEDQNPPCPRLSRELLDEKGPEVLQDSLDRCYSTP
SGCLELTDSCQPYRSAFYILEQQCVGLAV
DMDEIEKYQEVEEDQDPSCPRLSRELLAEKE
PEVLQDPLDRCYSTPSGYLELPDLGQPYSSAVYSLEEQYLGLAL
DVDRIKKDQEEEEDQG
PPCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSL
D
VGEIEKKGKGKKRRGRRSKKERRRGRKEGEEDQNPPCPRLSRELLDEKGPEVLQDSLDRC
YSTPSGCLELTDSCQPYRSAFYILEQQCVGLAV
DMDEIEKYQEVEEDQDPSCPRLSRELL
AEKEPEVLQDPLDRCYSTPSGYLELPDLGQPYSSAVYSLEEQYLGLAL
DVDRIKKDQEEE
EDQGPPCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVG
FSL
DVGEIEKKGKGKKRRGRRSKKERRRGRKEGEEDQNPPCPRLNSVLMEVEEPEVLQDS
LDGCYSTPSMYFELPDSFQHYRSVFYSFEEEHISFAL
YLDNRFFTLTVTSLHLVFQMLVI
FPQ
Sequence length 3843
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
Keratoconus Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Neuronal intranuclear inclusion disease Neuronal Intranuclear Inclusion Disease BEFREE 31332380
★☆☆☆☆
Found in Text Mining only