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Q4LDG9

- DNAL1_HUMAN

UniProt

Q4LDG9 - DNAL1_HUMAN

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Protein

Dynein light chain 1, axonemal

Gene

DNAL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein light chain 1, axonemal
Gene namesi
Name:DNAL1
Synonyms:C14orf168
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:23247. DNAL1.

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501N → S in CILD16. 1 Publication
VAR_065739

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

MIMi614017. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA162383938.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 190189Dynein light chain 1, axonemalPRO_0000281130Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ4LDG9.
PaxDbiQ4LDG9.
PeptideAtlasiQ4LDG9.
PRIDEiQ4LDG9.

PTM databases

PhosphoSiteiQ4LDG9.

Expressioni

Tissue specificityi

Expressed in tissues carrying motile cilia such as testis.1 Publication

Gene expression databases

BgeeiQ4LDG9.
CleanExiHS_DNAL1.
ExpressionAtlasiQ4LDG9. baseline and differential.
GenevestigatoriQ4LDG9.

Organism-specific databases

HPAiHPA053129.

Interactioni

Subunit structurei

Interacts with DNAH5.1 Publication

Protein-protein interaction databases

BioGridi123677. 2 interactions.
STRINGi9606.ENSP00000310360.

Structurei

3D structure databases

ProteinModelPortaliQ4LDG9.
SMRiQ4LDG9. Positions 1-190.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati49 – 7022LRR 1Add
BLAST
Repeati71 – 9222LRR 2Add
BLAST
Repeati94 – 11522LRR 3Add
BLAST
Repeati116 – 13722LRR 4Add
BLAST
Domaini150 – 19041LRRCTAdd
BLAST

Sequence similaritiesi

Belongs to the dynein light chain LC1-type family.Curated
Contains 4 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiCOG4886.
GeneTreeiENSGT00390000016904.
HOGENOMiHOG000230603.
HOVERGENiHBG081457.
InParanoidiQ4LDG9.
KOiK10411.
OMAiKWEEKNG.
PhylomeDBiQ4LDG9.
TreeFamiTF323974.

Family and domain databases

InterProiIPR001611. Leu-rich_rpt.
[Graphical view]
PROSITEiPS51450. LRR. 4 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q4LDG9-1) [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
MAKATTIKEA LARWEEKTGQ RPSEAKEIKL YAQIPPIEKM DASLSMLANC
60 70 80 90 100
EKLSLSTNCI EKIANLNGLK NLRILSLGRN NIKNLNGLEA VGDTLEELWI
110 120 130 140 150
SYNFIEKLKG IHIMKKLKIL YMSNNLVKDW AEFVKLAELP CLEDLVFVGN
160 170 180 190
PLEEKHSAEN NWIEEATKRV PKLKKLDGTP VIKGDEEEDN
Length:190
Mass (Da):21,533
Last modified:August 2, 2005 - v1
Checksum:iA48EA5047F6721EE
GO
Isoform 2 (identifier: Q4LDG9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.

Note: No experimental confirmation available.

Show »
Length:77
Mass (Da):8,883
Checksum:i7542BC929DB174F8
GO
Isoform 3 (identifier: Q4LDG9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.

Note: No experimental confirmation available.

Show »
Length:151
Mass (Da):17,096
Checksum:i446438FE7E6C5911
GO

Sequence cautioni

The sequence AAH05343.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501N → S in CILD16. 1 Publication
VAR_065739

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 113113Missing in isoform 2. 1 PublicationVSP_023982Add
BLAST
Alternative sequencei1 – 3939Missing in isoform 3. 1 PublicationVSP_043590Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF542071 mRNA. Translation: AAQ11377.1.
AK315392 mRNA. Translation: BAG37785.1.
AL833654 mRNA. Translation: CAI46147.1.
AC005225 Genomic DNA. No translation available.
AC006146 Genomic DNA. No translation available.
BC005343 mRNA. Translation: AAH05343.1. Different initiation.
CCDSiCCDS45134.1. [Q4LDG9-1]
CCDS55928.1. [Q4LDG9-3]
RefSeqiNP_001188295.1. NM_001201366.1. [Q4LDG9-3]
NP_113615.2. NM_031427.3. [Q4LDG9-1]
UniGeneiHs.271270.

Genome annotation databases

EnsembliENST00000311089; ENSP00000310360; ENSG00000119661. [Q4LDG9-2]
ENST00000553645; ENSP00000452037; ENSG00000119661. [Q4LDG9-1]
ENST00000554871; ENSP00000451834; ENSG00000119661. [Q4LDG9-3]
GeneIDi83544.
KEGGihsa:83544.
UCSCiuc001xoq.4. human. [Q4LDG9-1]

Polymorphism databases

DMDMi121944344.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF542071 mRNA. Translation: AAQ11377.1 .
AK315392 mRNA. Translation: BAG37785.1 .
AL833654 mRNA. Translation: CAI46147.1 .
AC005225 Genomic DNA. No translation available.
AC006146 Genomic DNA. No translation available.
BC005343 mRNA. Translation: AAH05343.1 . Different initiation.
CCDSi CCDS45134.1. [Q4LDG9-1 ]
CCDS55928.1. [Q4LDG9-3 ]
RefSeqi NP_001188295.1. NM_001201366.1. [Q4LDG9-3 ]
NP_113615.2. NM_031427.3. [Q4LDG9-1 ]
UniGenei Hs.271270.

3D structure databases

ProteinModelPortali Q4LDG9.
SMRi Q4LDG9. Positions 1-190.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123677. 2 interactions.
STRINGi 9606.ENSP00000310360.

PTM databases

PhosphoSitei Q4LDG9.

Polymorphism databases

DMDMi 121944344.

Proteomic databases

MaxQBi Q4LDG9.
PaxDbi Q4LDG9.
PeptideAtlasi Q4LDG9.
PRIDEi Q4LDG9.

Protocols and materials databases

DNASUi 83544.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000311089 ; ENSP00000310360 ; ENSG00000119661 . [Q4LDG9-2 ]
ENST00000553645 ; ENSP00000452037 ; ENSG00000119661 . [Q4LDG9-1 ]
ENST00000554871 ; ENSP00000451834 ; ENSG00000119661 . [Q4LDG9-3 ]
GeneIDi 83544.
KEGGi hsa:83544.
UCSCi uc001xoq.4. human. [Q4LDG9-1 ]

Organism-specific databases

CTDi 83544.
GeneCardsi GC14P074111.
GeneReviewsi DNAL1.
HGNCi HGNC:23247. DNAL1.
HPAi HPA053129.
MIMi 610062. gene.
614017. phenotype.
neXtProti NX_Q4LDG9.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA162383938.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG4886.
GeneTreei ENSGT00390000016904.
HOGENOMi HOG000230603.
HOVERGENi HBG081457.
InParanoidi Q4LDG9.
KOi K10411.
OMAi KWEEKNG.
PhylomeDBi Q4LDG9.
TreeFami TF323974.

Miscellaneous databases

ChiTaRSi DNAL1. human.
GeneWikii DNAL1.
GenomeRNAii 83544.
NextBioi 72471.
PROi Q4LDG9.
SOURCEi Search...

Gene expression databases

Bgeei Q4LDG9.
CleanExi HS_DNAL1.
ExpressionAtlasi Q4LDG9. baseline and differential.
Genevestigatori Q4LDG9.

Family and domain databases

InterProi IPR001611. Leu-rich_rpt.
[Graphical view ]
PROSITEi PS51450. LRR. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH DNAH5, TISSUE SPECIFICITY.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Hippocampus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Lymph node.
  4. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  6. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  7. "Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1."
    Mazor M., Alkrinawi S., Chalifa-Caspi V., Manor E., Sheffield V.C., Aviram M., Parvari R.
    Am. J. Hum. Genet. 88:599-607(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CILD16 SER-150.

Entry informationi

Entry nameiDNAL1_HUMAN
AccessioniPrimary (citable) accession number: Q4LDG9
Secondary accession number(s): B2RD38, Q5JPB7, Q9BS43
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: August 2, 2005
Last modified: November 26, 2014
This is version 90 of the entry and version 1 of the sequence. [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 14
    Human chromosome 14: 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

External Data

Dasty 3