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Protein

Cytoplasmic dynein 2 light intermediate chain 1

Gene

DYNC2LI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for correct intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Involved in the regulation of ciliary length.2 Publications

GO - Molecular functioni

GO - Biological processi

  • determination of left/right symmetry Source: Ensembl
  • intraciliary retrograde transport Source: GO_Central
  • intraciliary transport involved in cilium assembly Source: UniProtKB
  • regulation of cilium assembly Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein, Motor protein
Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport

Names & Taxonomyi

Protein namesi
Recommended name:
Cytoplasmic dynein 2 light intermediate chain 1
Short name:
Dynein 2 light intermediate chain
Gene namesi
Name:DYNC2LI1
Synonyms:D2LIC, LIC3
ORF Names:CGI-60
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138036.18
HGNCiHGNC:24595 DYNC2LI1
MIMi617083 gene
neXtProtiNX_Q8TCX1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Microtubule

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 15 with polydactyly (SRTD15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
See also OMIM:617088
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077814117L → V in SRTD15. 1 PublicationCorresponds to variant dbSNP:rs201948500EnsemblClinVar.1
Natural variantiVAR_077815220T → I in SRTD15. 1 PublicationCorresponds to variant dbSNP:rs886037860Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi51626
MalaCardsiDYNC2LI1
MIMi617088 phenotype
OpenTargetsiENSG00000138036
PharmGKBiPA142671919

Polymorphism and mutation databases

BioMutaiDYNC2LI1
DMDMi74715850

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003187501 – 351Cytoplasmic dynein 2 light intermediate chain 1Add BLAST351

Proteomic databases

EPDiQ8TCX1
MaxQBiQ8TCX1
PaxDbiQ8TCX1
PeptideAtlasiQ8TCX1
PRIDEiQ8TCX1
ProteomicsDBi74183
74184 [Q8TCX1-2]
74185 [Q8TCX1-3]
74186 [Q8TCX1-4]
74187 [Q8TCX1-5]

PTM databases

iPTMnetiQ8TCX1
PhosphoSitePlusiQ8TCX1

Expressioni

Tissue specificityi

Expressed in bone, brain, kidney, and cartilage (PubMed:26077881, PubMed:26130459). Lower expression in heart, liver, lung, placenta and thymus (PubMed:26077881).2 Publications

Gene expression databases

BgeeiENSG00000138036
CleanExiHS_DYNC2LI1
ExpressionAtlasiQ8TCX1 baseline and differential
GenevisibleiQ8TCX1 HS

Organism-specific databases

HPAiHPA062905

Interactioni

Subunit structurei

The cytoplasmic dynein complex 2 is probably composed by a DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
SOD1P004413EBI-8568003,EBI-990792

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119644, 23 interactors
CORUMiQ8TCX1
IntActiQ8TCX1, 12 interactors
MINTiQ8TCX1
STRINGi9606.ENSP00000260605

Structurei

3D structure databases

ProteinModelPortaliQ8TCX1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3929 Eukaryota
ENOG410XTE5 LUCA
GeneTreeiENSGT00390000010498
HOVERGENiHBG066237
InParanoidiQ8TCX1
KOiK10417
OMAiPAKDPQY
OrthoDBiEOG091G0MQ3
PhylomeDBiQ8TCX1
TreeFamiTF314138

Family and domain databases

InterProiView protein in InterPro
IPR022780 Dynein_light_int_chain
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF05783 DLIC, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TCX1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPSETLWEIA KAEVEKRGIN GSEGDGAEIA EKFVFFIGSK NGGKTTIILR
60 70 80 90 100
CLDRDEPPKP TLALEYTYGR RAKGHNTPKD IAHFWELGGG TSLLDLISIP
110 120 130 140 150
ITGDTLRTFS LVLVLDLSKP NDLWPTMENL LQATKSHVDK VIMKLGKTNA
160 170 180 190 200
KAVSEMRQKI WNNMPKDHPD HELIDPFPVP LVIIGSKYDV FQDFESEKRK
210 220 230 240 250
VICKTLRFVA HYYGASLMFT SKSEALLLKI RGVINQLAFG IDKSKSICVD
260 270 280 290 300
QNKPLFITAG LDSFGQIGSP PVPENDIGKL HAHSPMELWK KVYEKLFPPK
310 320 330 340 350
SINTLKDIKD PARDPQYAEN EVDEMRIQKD LELEQYKRSS SKSWKQIELD

S
Length:351
Mass (Da):39,625
Last modified:June 1, 2002 - v1
Checksum:iBB4BB8B528D4A99A
GO
Isoform 2 (identifier: Q8TCX1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-169: P → PQ

Show »
Length:352
Mass (Da):39,753
Checksum:i156B9FAB4FDABAC1
GO
Isoform 3 (identifier: Q8TCX1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     332-351: ELEQYKRSSSKSWKQIELDS → VLS

Show »
Length:334
Mass (Da):37,500
Checksum:iC4D1D8FF4A49656F
GO
Isoform 4 (identifier: Q8TCX1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-201: DHELIDPFPVPLVIIGSKYDVFQDFESEKRKV → VSCCLGLLLESLVPFIVNDNITNNFFRFLCMT
     202-351: Missing.

Show »
Length:201
Mass (Da):22,433
Checksum:i88D40AFF3FB35E50
GO
Isoform 5 (identifier: Q8TCX1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-144: TFSLVLVLDLSKPNDLWPTMENLLQATKSHVDKVIMK → SWQLSSLLPVSMNLTTPVPHINEIIHYLSFCYLFHLA
     145-351: Missing.

Note: No experimental confirmation available.
Show »
Length:144
Mass (Da):15,997
Checksum:i4A235A2C5B2D1F15
GO

Sequence cautioni

The sequence AAD34055 differs from that shown. Reason: Frameshift at positions 163 and 167.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29I → F in CAB43233 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03887433F → S2 PublicationsCorresponds to variant dbSNP:rs2288709Ensembl.1
Natural variantiVAR_03887558P → S1 PublicationCorresponds to variant dbSNP:rs17854966Ensembl.1
Natural variantiVAR_077814117L → V in SRTD15. 1 PublicationCorresponds to variant dbSNP:rs201948500EnsemblClinVar.1
Natural variantiVAR_077815220T → I in SRTD15. 1 PublicationCorresponds to variant dbSNP:rs886037860Ensembl.1
Natural variantiVAR_038876230I → L2 PublicationsCorresponds to variant dbSNP:rs11556157Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_031287108 – 144TFSLV…KVIMK → SWQLSSLLPVSMNLTTPVPH INEIIHYLSFCYLFHLA in isoform 5. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_031288145 – 351Missing in isoform 5. 1 PublicationAdd BLAST207
Alternative sequenceiVSP_031289169P → PQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_031290170 – 201DHELI…EKRKV → VSCCLGLLLESLVPFIVNDN ITNNFFRFLCMT in isoform 4. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_031291202 – 351Missing in isoform 4. 1 PublicationAdd BLAST150
Alternative sequenceiVSP_031292332 – 351ELEQY…IELDS → VLS in isoform 3. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY083346 mRNA Translation: AAL99216.1
AF151818 mRNA Translation: AAD34055.1 Frameshift.
AK223432 mRNA Translation: BAD97152.1
AC011242 Genomic DNA Translation: AAY14702.1
CH471053 Genomic DNA Translation: EAX00289.1
CH471053 Genomic DNA Translation: EAX00290.1
CH471053 Genomic DNA Translation: EAX00291.1
BC006969 mRNA Translation: AAH06969.1
BC016324 mRNA Translation: AAH16324.1
BC040558 mRNA Translation: AAH40558.1
BC058823 mRNA Translation: AAH58823.1
AL050006 mRNA Translation: CAB43233.1
CCDSiCCDS1813.1 [Q8TCX1-1]
CCDS46270.1 [Q8TCX1-4]
CCDS62903.1 [Q8TCX1-2]
PIRiT08695
RefSeqiNP_001180393.1, NM_001193464.1 [Q8TCX1-2]
NP_056337.1, NM_015522.3 [Q8TCX1-4]
NP_057092.2, NM_016008.3 [Q8TCX1-1]
UniGeneiHs.371597

Genome annotation databases

EnsembliENST00000260605; ENSP00000260605; ENSG00000138036 [Q8TCX1-1]
ENST00000398823; ENSP00000381804; ENSG00000138036 [Q8TCX1-5]
ENST00000406852; ENSP00000385738; ENSG00000138036 [Q8TCX1-4]
ENST00000605786; ENSP00000474032; ENSG00000138036 [Q8TCX1-2]
GeneIDi51626
KEGGihsa:51626
UCSCiuc002rth.4 human [Q8TCX1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDC2L1_HUMAN
AccessioniPrimary (citable) accession number: Q8TCX1
Secondary accession number(s): A8MVJ5
, Q53F57, Q6PDB2, Q8IWA3, Q96B03, Q96J00, Q9Y370, Q9Y3S9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 1, 2002
Last modified: June 20, 2018
This is version 111 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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