UniProt:Q9NXB0 MKS1

chain
  • chain:1-559
checksum 3E4EBFDAFA8FB39D
comment
  • FUNCTION Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.SUBUNIT Part of the tectonic-like complex (also named B9 complex) (PubMed:26595381). Interacts with TMEM107 (PubMed:26595381). Interacts with TCTN3, AHI1, TCTN1, TCTN2, CC2D2A (By similarity). Interacts with FLNA (PubMed:22121117). Interacts with TMEM67 (PubMed:17185389). Interacts with B9D1 and B9D2 (By similarity).INTERACTION Localizes at the transition zone, a region between the basal body and the ciliary axoneme.ALTERNATIVE PRODUCTS The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 237470
description
  • recommendedName: fullName evidence="15"Tectonic-like complex member MKS1 alternativeName: Meckel syndrome type 1 protein
displayName UniProt:Q9NXB0 MKS1
geneName
  • MKS1
identifier Q9NXB0
isSequenceChanged false
keyword
  • Alternative splicing
  • Bardet-Biedl syndrome
  • Cell projection
  • Ciliopathy
  • Cilium
  • Cilium biogenesis/degradation
  • Cytoplasm
  • Cytoskeleton
  • Disease variant
  • Intellectual disability
  • Joubert syndrome
  • Meckel syndrome
  • Obesity
  • Reference proteome
modified [InstanceEdit:12187927] Wright, Adam, 2024-03-12
name
  • MKS1
otherIdentifier
  • 11719309_a_at
  • 11752661_a_at
  • 11752662_x_at
  • 1555820_PM_a_at
  • 1555820_a_at
  • 16847007
  • 218630_PM_at
  • 218630_at
  • 3764198
  • 3764200
  • 3764201
  • 3764202
  • 3764203
  • 3764206
  • 3764207
  • 3764208
  • 3764212
  • 3764213
  • 3764215
  • 3764217
  • 3764218
  • 3764219
  • 3764220
  • 3764221
  • 3764223
  • 3764225
  • 3764228
  • 3764229
  • 3764231
  • 3764233
  • 49408_at
  • 54903
  • 8016909
  • A_33_P3404623
  • GE55452
  • GO:0001843
  • GO:0003271
  • GO:0005515
  • GO:0005737
  • GO:0005813
  • GO:0005814
  • GO:0005815
  • GO:0005829
  • GO:0005856
  • GO:0005929
  • GO:0007368
  • GO:0008589
  • GO:0010669
  • GO:0016020
  • GO:0023052
  • GO:0030030
  • GO:0030154
  • GO:0035869
  • GO:0036038
  • GO:0036064
  • GO:0042733
  • GO:0042995
  • GO:0043226
  • GO:0044458
  • GO:0044782
  • GO:0048706
  • GO:0048754
  • GO:0048856
  • GO:0060122
  • GO:0060271
  • GO:0060322
  • GO:0060411
  • GO:0060828
  • GO:0061009
  • GO:1905515
  • GO:1990403
  • GO:2000095
  • HMNXSV003025049
  • PH_hs_0024770
  • TC17001726.hg
  • g8923323_3p_s_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • MKS1_HUMAN
  • B7WNX4
  • F5H885
  • Q284T0
  • Q96G13
sequenceLength 559
species [Species:48887] Homo sapiens
url https://purl.uniprot.org/uniprot/Q9NXB0
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