UniProtKB - O14645 (IDLC_HUMAN)
Protein
Axonemal dynein light intermediate polypeptide 1
Gene
DNALI1
Organism
Homo sapiens (Human)
Status
Functioni
May play a dynamic role in flagellar motility.
GO - Molecular functioni
- dynein heavy chain binding Source: GO_Central
- motor activity Source: UniProtKB-KW
GO - Biological processi
- inner dynein arm assembly Source: GO_Central
Keywordsi
Molecular function | Motor protein |
Names & Taxonomyi
Protein namesi | Recommended name: Axonemal dynein light intermediate polypeptide 1Alternative name(s): Inner dynein arm light chain, axonemal hp28 |
Gene namesi | Name:DNALI1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000163879.10 |
HGNCi | HGNC:14353 DNALI1 |
MIMi | 602135 gene |
neXtProti | NX_O14645 |
Subcellular locationi
Other locations
- cilium 1 Publication
Cytoskeleton
- axoneme Source: GO_Central
- dynein complex Source: UniProtKB-KW
Other locations
- 9+2 motile cilium Source: GO_Central
- cilium Source: UniProtKB
- cytoplasm Source: BHF-UCL
- filopodium Source: GO_Central
Keywords - Cellular componenti
Cell projection, DyneinPathology & Biotechi
Organism-specific databases
DisGeNETi | 7802 |
PharmGKBi | PA38381 |
Polymorphism and mutation databases
BioMutai | DNALI1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000114675 | 1 – 258 | Axonemal dynein light intermediate polypeptide 1Add BLAST | 258 |
Proteomic databases
EPDi | O14645 |
PaxDbi | O14645 |
PeptideAtlasi | O14645 |
PRIDEi | O14645 |
ProteomicsDBi | 48141 |
PTM databases
iPTMneti | O14645 |
PhosphoSitePlusi | O14645 |
Expressioni
Tissue specificityi
Expressed in many tissues. A smaller 0.9 kb and a larger 2.5 kb transcripts were detected at the highest level in the testis, at medium levels in the prostate, heart, liver, lung and pancreas, at low levels in the ovary, skeletal muscle and small intestine. Not detected in spleen, colon epithelium, thymus or peripheral blood leukocytes. The 0.9 kb transcript is expressed at a 20-fold higher level than the 2.5 kb transcript in the testis.
Gene expression databases
Bgeei | ENSG00000163879 Expressed in 150 organ(s), highest expression level in testis |
Genevisiblei | O14645 HS |
Organism-specific databases
HPAi | HPA028305 |
Interactioni
Binary interactionsi
GO - Molecular functioni
- dynein heavy chain binding Source: GO_Central
Protein-protein interaction databases
BioGridi | 113577, 16 interactors |
IntActi | O14645, 18 interactors |
MINTi | O14645 |
STRINGi | 9606.ENSP00000296218 |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 176 – 255 | Sequence analysisAdd BLAST | 80 |
Sequence similaritiesi
Belongs to the inner dynein arm light chain family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG4001 Eukaryota ENOG410XP66 LUCA |
HOGENOMi | HOG000090301 |
HOVERGENi | HBG019035 |
InParanoidi | O14645 |
KOi | K10410 |
OrthoDBi | 1375694at2759 |
PhylomeDBi | O14645 |
TreeFami | TF314891 |
Family and domain databases
InterProi | View protein in InterPro IPR019347 Axonemal_dynein_light_chain |
PANTHERi | PTHR13183 PTHR13183, 1 hit |
Pfami | View protein in Pfam PF10211 Ax_dynein_light, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: O14645-1) [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.
10 20 30 40 50
MIPPADSLLK YDTPVLVSRN TEKRSPKARL LKVSPQQPGP SGSAPQPPKT
60 70 80 90 100
KLPSTPCVPD PTKQAEEILN AILPPREWVE DTQLWIQQVS STPSTRMDVV
110 120 130 140 150
HLQEQLDLKL QQRQARETGI CPVRRELYSQ CFDELIREVT INCAERGLLL
160 170 180 190 200
LRVRDEIRMT IAAYQTLYES SVAFGMRKAL QAEQGKSDME RKIAELETEK
210 220 230 240 250
RDLERQVNEQ KAKCEATEKR ESERRQVEEK KHNEEIQFLK RTNQQLKAQL
EGIIAPKK
Sequence cautioni
The sequence AAB69193 differs from that shown. Reason: Frameshift at positions 7, 28, 94, 125, 139 and 153.Curated
The sequence CAI46082 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 54 | S → P in CAI46082 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 76 | R → K in BAF83191 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 152 | R → Q in AAB69193 (PubMed:9284741).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014473 | 65 | A → V. Corresponds to variant dbSNP:rs11749Ensembl. | 1 | |
Natural variantiVAR_035701 | 120 | I → M in a colorectal cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056965 | 1 – 6 | MIPPAD → MPYYPQ in isoform 2. 1 Publication | 6 | |
Alternative sequenceiVSP_056966 | 7 – 132 | Missing in isoform 2. 1 PublicationAdd BLAST | 126 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF006386 mRNA Translation: AAB69193.1 Frameshift. AK295199 mRNA Translation: BAG58198.1 AK290502 mRNA Translation: BAF83191.1 BX647913 mRNA Translation: CAI46082.1 Different initiation. AL034379 Genomic DNA No translation available. BC039074 mRNA Translation: AAH39074.1 BC046117 mRNA Translation: AAH46117.1 |
CCDSi | CCDS420.1 [O14645-1] |
RefSeqi | NP_003453.2, NM_003462.3 [O14645-1] XP_005271229.1, XM_005271172.2 [O14645-2] |
UniGenei | Hs.406050 |
Genome annotation databases
Ensembli | ENST00000296218; ENSP00000296218; ENSG00000163879 |
GeneIDi | 7802 |
KEGGi | hsa:7802 |
UCSCi | uc001cbj.3 human [O14645-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF006386 mRNA Translation: AAB69193.1 Frameshift. AK295199 mRNA Translation: BAG58198.1 AK290502 mRNA Translation: BAF83191.1 BX647913 mRNA Translation: CAI46082.1 Different initiation. AL034379 Genomic DNA No translation available. BC039074 mRNA Translation: AAH39074.1 BC046117 mRNA Translation: AAH46117.1 |
CCDSi | CCDS420.1 [O14645-1] |
RefSeqi | NP_003453.2, NM_003462.3 [O14645-1] XP_005271229.1, XM_005271172.2 [O14645-2] |
UniGenei | Hs.406050 |
3D structure databases
ProteinModelPortali | O14645 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 113577, 16 interactors |
IntActi | O14645, 18 interactors |
MINTi | O14645 |
STRINGi | 9606.ENSP00000296218 |
PTM databases
iPTMneti | O14645 |
PhosphoSitePlusi | O14645 |
Polymorphism and mutation databases
BioMutai | DNALI1 |
Proteomic databases
EPDi | O14645 |
PaxDbi | O14645 |
PeptideAtlasi | O14645 |
PRIDEi | O14645 |
ProteomicsDBi | 48141 |
Protocols and materials databases
DNASUi | 7802 |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000296218; ENSP00000296218; ENSG00000163879 |
GeneIDi | 7802 |
KEGGi | hsa:7802 |
UCSCi | uc001cbj.3 human [O14645-1] |
Organism-specific databases
CTDi | 7802 |
DisGeNETi | 7802 |
EuPathDBi | HostDB:ENSG00000163879.10 |
GeneCardsi | DNALI1 |
H-InvDBi | HIX0023523 |
HGNCi | HGNC:14353 DNALI1 |
HPAi | HPA028305 |
MIMi | 602135 gene |
neXtProti | NX_O14645 |
PharmGKBi | PA38381 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4001 Eukaryota ENOG410XP66 LUCA |
HOGENOMi | HOG000090301 |
HOVERGENi | HBG019035 |
InParanoidi | O14645 |
KOi | K10410 |
OrthoDBi | 1375694at2759 |
PhylomeDBi | O14645 |
TreeFami | TF314891 |
Miscellaneous databases
ChiTaRSi | DNALI1 human |
GenomeRNAii | 7802 |
PROi | PR:O14645 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163879 Expressed in 150 organ(s), highest expression level in testis |
Genevisiblei | O14645 HS |
Family and domain databases
InterProi | View protein in InterPro IPR019347 Axonemal_dynein_light_chain |
PANTHERi | PTHR13183 PTHR13183, 1 hit |
Pfami | View protein in Pfam PF10211 Ax_dynein_light, 1 hit |
ProtoNeti | Search... |
Entry informationi
Entry namei | IDLC_HUMAN | |
Accessioni | O14645Primary (citable) accession number: O14645 Secondary accession number(s): A8K387 Q7L0I5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2001 |
Last sequence update: | September 27, 2005 | |
Last modified: | February 13, 2019 | |
This is version 136 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations