Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4131
Gene name Gene Name - the full gene name approved by the HGNC.
Microtubule associated protein 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAP1B
Synonyms (NCBI Gene) Gene synonyms aliases
DFNA83, FUTSCH, MAP5, PPP1R102, PVNH9
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor poly
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1554054827 C>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1554054831 C>T Likely-pathogenic Coding sequence variant, stop gained
rs1554054880 C>T Likely-pathogenic Coding sequence variant, stop gained
rs1554055106 C>T Likely-pathogenic Coding sequence variant, stop gained
rs1561314246 G>- Risk-factor Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021367 hsa-miR-9-5p Microarray 17612493
MIRT021755 hsa-miR-132-3p Microarray 17612493
MIRT025245 hsa-miR-34a-5p Proteomics 21566225
MIRT025635 hsa-miR-7-5p Microarray 17612493
MIRT049003 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0001578 Process Microtubule bundle formation IEA
GO:0001578 Process Microtubule bundle formation IEA
GO:0001750 Component Photoreceptor outer segment IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
157129 6836 ENSG00000131711
Protein
UniProt ID P46821
Protein name Microtubule-associated protein 1B (MAP-1B) [Cleaved into: MAP1B heavy chain; MAP1 light chain LC1]
Protein function Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00414 MAP1B_neuraxin 1895 1911 Neuraxin and MAP1B repeat Repeat
PF00414 MAP1B_neuraxin 1912 1928 Neuraxin and MAP1B repeat Repeat
PF00414 MAP1B_neuraxin 1929 1945 Neuraxin and MAP1B repeat Repeat
PF00414 MAP1B_neuraxin 1963 1979 Neuraxin and MAP1B repeat Repeat
PF00414 MAP1B_neuraxin 2031 2047 Neuraxin and MAP1B repeat Repeat
PF00414 MAP1B_neuraxin 2048 2063 Neuraxin and MAP1B repeat Repeat
Sequence
MATVVVEATEPEPSGSIANPAASTSPSLSHRFLDSKFYLLVVVGEIVTEEHLRRAIGNIE
LGIRSWDTNLIECNLDQELKLFVSRHSARFSPEVPGQKILHHRSDVLETVVLINPSDEAV
STEVRLMITDAARHKLLVLTGQCFENTGELILQSGSFSFQNFIEIFTDQEIGELLSTTHP
ANKASLTLFCPEEGDWKNSNLDRHNLQDFINIKLNSASILPEMEGLSEFTEYLSESVEVP
SPFDILEPPTSGGFLKLSKPCCYIFPGGRGDSALFAVNGFNMLINGGSERKSCFWKLIRH
LDRVDSILLTHIGDDNLPGINSMLQRKIAELEEEQSQGSTTNSDWMKNLISPDLGVVFLN
VPENLKNPEPNIKMKRSIEEACFTLQYLNKLSMKPEPLFRSVGNTIDPVILFQKMGVGKL
EMYVLNPVKSSKEMQYFMQQWTGTNKDKAEFILPNGQEVDLPISYLTSVSSLIVWHPANP
AEKIIRVLFPGNSTQYNILEGLEKLKHLDFLKQPLATQKDLTGQVPTPVVKQTKLKQRAD
SRESLKPAAKPLPSKSVRKESKEETPEVTKVNHVEKPPKVESKEKVMVKKDKPIKTETKP
SVTEKEVPSKEEPSPVKAEVAEKQATDVKPKAAKEKTVKKETKVKPEDKKEEKEKPKKEV
AKKEDKTPIKKEEKPKKEEVKKEVKKEIKKEEKKEPKKEVKKETPPKEVKKEVKKEEKKE
VKKEEKEPKKEIKKLPKDAKKSSTPLSEAKKPAALKPKVPKKEESVKKDSVAAGKPKEKG
KIKVIKKEGKAAEAVAAAVGTGATTAAVMAAAGIAAIGPAKELEAERSLMSSPEDLTKDF
EELKAEEVDVTKDIKPQLELIEDEEKLKETEPVEAYVIQKEREVTKGPAESPDEGITTTE
GEGECEQTPEELEPVEKQGVDDIEKFEDEGAGFEESSETGDYEEKAETEEAEEPEEDGEE
HVCVSASKHSPTEDEESAKAEADAYIREKRESVASGDDRAEEDMDEAIEKGEAEQSEEEA
DEEDKAEDAREEEYEPEKMEAEDYVMAVVDKAAEAGGAEEQYGFLTTPTKQLGAQSPGRE
PASSIHDETLPGGSESEATASDEENREDQPEEFTATSGYTQSTIEISSEPTPMDEMSTPR
DVMSDETNNEETESPSQEFVNITKYESSLYSQEYSKPADVTPLNGFSEGSKTDATDGKDY
NASASTISPPSSMEEDKFSRSALRDAYCSEVKASTTLDIKDSISAVSSEKVSPSKSPSLS
PSPPSPLEKTPLGERSVNFSLTPNEIKVSAEAEVAPVSPEVTQEVVEEHCASPEDKTLEV
VSPSQSVTGSAGHTPYYQSPTDEKSSHLPTEVIEKPPAVPVSFEFSDAKDENERASVSPM
DEPVPDSESPIEKVLSPLRSPPLIGSESAYESFLSADDKASGRGAESPFEEKSGKQGSPD
QVSPVSEMTSTSLYQDKQEGKSTDFAPIKEDFGQEKKTDDVEAMSSQPALALDERKLGDV
SPTQIDVSQFGSFKEDTKMSISEGTVSDKSATPVDEGVAEDTYSHMEGVASVSTASVATS
SFPEPTTDDVSPSLHAEVGSPHSTEVDDSLSVSVVQTPTTFQETEMSPSKEECPRPMSIS
PPDFSPKTAKSRTPVQDHRSEQSSMSIEFGQESPEQSLAMDFSRQSPDHPTVGAGVLHIT
ENGPTEVDYSPSDMQDSSLSHKIPPMEEPSYTQDNDLSELISVSQVEASPSTSSAHTPSQ
IASPLQEDTLSDVAPPRDMSLYASLTSEKVQSLEGEKLSPKSDISPLTPRESSPLYSPTF
SDSTSAVKEKTATCHSSSSPPIDAASAEPYGFRASVLFDTMQHHLALNRDLSTPGLEKDS
GGKTPGDFSYAYQKPEETTRSPDEEDYDYESYEKTTRTSDVGGYYYEKIERTTKSPSDSG
YSYETIGK
TTKTPEDGDYSYEIIEKTTRTPEEGGYSYDISEKTTSPPEVSGYSYEKTERS
RRLLDDISNGYDDSEDGGHTLGDPSYSYETTEKITSFPESEGYSYETSTKTTRTPDTSTY
CYETAEK
ITRTPQASTYSYETSDLCYTAEKKSPSEARQDVDLCLVSSCEYKHPKTELSPS
FINPNPLEWFASEEPTEESEKPLTQSGGAPPPPGGKQQGRQCDETPPTSVSESAPSQTDS
DVPPETEECPSITADANIDSEDESETIPTDKTVTYKHMDPPPAPVQDRSPSPRHPDVSMV
DPEALAIEQNLGKALKKDLKEKTKTKKPGTKTKSSSPVKKSDGKSKPLAASPKPAGLKES
SDKVSRVASPKKKESVEKAAKPTTTPEVKAARGEEKDKETKNAANASASKSAKTATAGPG
TTKTTKSSAVPPGLPVYLDLCYIPNHSNSKNVDVEFFKRVRSSYYVVSGNDPAAEEPSRA
VLDALLEGKAQWGSNMQVTLIPTHDSEVMREWYQETHEKQQDLNIMVLASSSTVVMQDES
FPACKIEL
Sequence length 2468
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Viral life cycle - HIV-1  
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Periventricular Nodular Heterotopia periventricular nodular heterotopia, Periventricular nodular heterotopia 9 rs1554054827, rs1554054831, rs1554054880, rs1580027036, rs1580026238 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma Astrocytoma N/A N/A GWAS
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 24914616
Carcinoma Hepatocellular Associate 32311840
Diffuse Neurofibrillary Tangles with Calcification Associate 21828286
Epilepsy Temporal Lobe Associate 20411268
Frontotemporal Dementia Associate 35777956
Fused Kidney Associate 35777956
Glioma Associate 8456947
Heredodegenerative Disorders Nervous System Associate 36553576
Inflammation Associate 28257834
Keratoconus Associate 37965330