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Protein

Axonemal dynein light intermediate polypeptide 1

Gene

DNALI1

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

Functioni

May play a dynamic role in flagellar motility.

GO - Molecular functioni

Keywordsi

Molecular functionMotor protein

Names & Taxonomyi

Protein namesi
Recommended name:
Axonemal dynein light intermediate polypeptide 1
Alternative name(s):
Inner dynein arm light chain, axonemal
hp28
Gene namesi
Name:DNALI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000163879.10
HGNCiHGNC:14353 DNALI1
MIMi602135 gene
neXtProtiNX_O14645

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, Dynein

Pathology & Biotechi

Organism-specific databases

DisGeNETi7802
PharmGKBiPA38381

Polymorphism and mutation databases

BioMutaiDNALI1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001146751 – 258Axonemal dynein light intermediate polypeptide 1Add BLAST258

Proteomic databases

EPDiO14645
PaxDbiO14645
PeptideAtlasiO14645
PRIDEiO14645
ProteomicsDBi48141

PTM databases

iPTMnetiO14645
PhosphoSitePlusiO14645

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

BgeeiENSG00000163879
CleanExiHS_DNALI1
GenevisibleiO14645 HS

Organism-specific databases

HPAiHPA028305

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113577, 16 interactors
IntActiO14645, 18 interactors
MINTiO14645
STRINGi9606.ENSP00000296218

Structurei

3D structure databases

ProteinModelPortaliO14645
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili176 – 255Sequence analysisAdd BLAST80

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4001 Eukaryota
ENOG410XP66 LUCA
HOGENOMiHOG000090301
HOVERGENiHBG019035
InParanoidiO14645
KOiK10410
OrthoDBiEOG091G0WAL
PhylomeDBiO14645
TreeFamiTF314891

Family and domain databases

InterProiView protein in InterPro
IPR019347 Axonemal_dynein_light_chain
PfamiView protein in Pfam
PF10211 Ax_dynein_light, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 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.

« Hide

        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
Length:258
Mass (Da):29,662
Last modified:September 27, 2005 - v2
Checksum:i5E95F15FE4476BF7
GO
Isoform 2 (identifier: O14645-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: MIPPAD → MPYYPQ
     7-132: Missing.

Note: No experimental confirmation available.
Show »
Length:132
Mass (Da):15,583
Checksum:iD0AD5D94C2965156
GO

Sequence cautioni

The sequence AAB69193 differs from that shown. Reason: Frameshift at positions 7, 28, 94, 125, 139 and 153.Curated
The sequence CAI20553 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAI46082 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti54S → P in CAI46082 (PubMed:17974005).Curated1
Sequence conflicti76R → K in BAF83191 (PubMed:14702039).Curated1
Sequence conflicti152R → Q in AAB69193 (PubMed:9284741).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01447365A → V. Corresponds to variant dbSNP:rs11749Ensembl.1
Natural variantiVAR_035701120I → M in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0569651 – 6MIPPAD → MPYYPQ in isoform 2. 1 Publication6
Alternative sequenceiVSP_0569667 – 132Missing in isoform 2. 1 PublicationAdd BLAST126

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 Translation: CAI20553.1 Different initiation.
BC039074 mRNA Translation: AAH39074.1
BC046117 mRNA Translation: AAH46117.1
RefSeqiNP_003453.2, NM_003462.3
XP_005271229.1, XM_005271172.2 [O14645-2]
UniGeneiHs.406050

Genome annotation databases

EnsembliENST00000296218; ENSP00000296218; ENSG00000163879
GeneIDi7802
KEGGihsa:7802
UCSCiuc001cbj.3 human [O14645-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiIDLC_HUMAN
AccessioniPrimary (citable) accession number: O14645
Secondary accession number(s): A8K387
, B4DHN6, Q05BL9, Q5HYE2, Q5TGH0, Q7L0I5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: September 27, 2005
Last modified: June 20, 2018
This is version 131 of the entry and version 2 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 1
    Human chromosome 1: 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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