Gene Gene information from NCBI Gene database.
Entrez ID 4131
Gene name Microtubule associated protein 1B
Gene symbol MAP1B
Synonyms (NCBI Gene)
DFNA83FUTSCHMAP5PPP1R102PVNH9
Chromosome 5
Chromosome location 5q13.2
Summary 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.
8
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.
1209
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
90
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
157129 6836 ENSG00000131711
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
223
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Pathogenic; Likely pathogenic rs1561315170, rs1580026238 RCV000984867
RCV000984868
Cognitive impairment Pathogenic; Likely pathogenic rs1561314246, rs1561315170, rs1580026238 RCV000984866
RCV000984867
RCV000984868
Hearing loss, autosomal dominant 83 Pathogenic; Likely pathogenic rs753026898, rs2478574299, rs2478566625 RCV002074477
RCV003147757
RCV003883328
Hypoplasia of the corpus callosum Pathogenic; Likely pathogenic rs1561314246, rs1561315170, rs1580026238 RCV000984866
RCV000984867
RCV000984868
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs150098917 RCV005903113
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs756607403 RCV004557787
Familial cancer of breast Likely benign; Benign rs145042509, rs138733653 RCV005936775
RCV005904397
Hepatocellular carcinoma Likely benign rs768923611 RCV005927392
Associations from Text MiningDisease 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