Q4LDG9 (DNAL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dynein light chain 1, axonemal

Gene names

Name:	DNAL1
Synonyms:	C14orf168

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	190 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts with DNAH5. Ref.1
Tissue specificity	Expressed in tissues carrying motile cilia such as testis. Ref.1
Involvement in disease	Primary ciliary dyskinesia 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Sequence similarities	Belongs to the dynein light chain LC1-type family. Contains 4 LRR (leucine-rich) repeats. Contains 1 LRRCT domain.
Sequence caution	The sequence AAH05343.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Ciliopathy Disease mutation Primary ciliary dyskinesia
Domain	Leucine-rich repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q4LDG9-1)

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.

Isoform 2 (identifier: Q4LDG9-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: Q4LDG9-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 190	190	Dynein light chain 1, axonemal		PRO_0000281130
Regions
	Repeat	49 – 70	22	LRR 1
	Repeat	71 – 92	22	LRR 2
	Repeat	94 – 115	22	LRR 3
	Repeat	116 – 137	22	LRR 4
	Domain	150 – 190	41	LRRCT
Natural variations
	Alternative sequence	1 – 113	113	Missing in isoform 2.		VSP_023982
	Alternative sequence	1 – 39	39	Missing in isoform 3.		VSP_043590
	Natural variant	150	1	N → S in CILD16. Ref.6		VAR_065739

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 2, 2005. Version 1. Checksum: A48EA5047F6721EE	FASTA	190	21,533
	10 20 30 40 50 60 MAKATTIKEA LARWEEKTGQ RPSEAKEIKL YAQIPPIEKM DASLSMLANC EKLSLSTNCI 70 80 90 100 110 120 EKIANLNGLK NLRILSLGRN NIKNLNGLEA VGDTLEELWI SYNFIEKLKG IHIMKKLKIL 130 140 150 160 170 180 YMSNNLVKDW AEFVKLAELP CLEDLVFVGN PLEEKHSAEN NWIEEATKRV PKLKKLDGTP 190 VIKGDEEEDN
	Isoform 2 [UniParc]. Checksum: 7542BC929DB174F8	FASTA	77	8,883
	10 20 30 40 50 60 MKKLKILYMS NNLVKDWAEF VKLAELPCLE DLVFVGNPLE EKHSAENNWI EEATKRVPKL 70 KKLDGTPVIK GDEEEDN
	Isoform 3 [UniParc]. Checksum: 446438FE7E6C5911	FASTA	151	17,096
	10 20 30 40 50 60 MDASLSMLAN CEKLSLSTNC IEKIANLNGL KNLRILSLGR NNIKNLNGLE AVGDTLEELW 70 80 90 100 110 120 ISYNFIEKLK GIHIMKKLKI LYMSNNLVKD WAEFVKLAEL PCLEDLVFVG NPLEEKHSAE 130 140 150 NNWIEEATKR VPKLKKLDGT PVIKGDEEED N

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients." Horvath J., Fliegauf M., Olbrich H., Kispert A., King S.M., Mitchison H., Zariwala M.A., Knowles M.R., Sudbrak R., Fekete G., Neesen J., Reinhardt R., Omran H. Am. J. Respir. Cell Mol. Biol. 33:41-47(2005) [PubMed] [Europe PMC] [Abstract] 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]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00027761. IPI00830125. IPI01026174.
RefSeq	NP_001188295.1. NM_001201366.1. NP_113615.2. NM_031427.3.
UniGene	Hs.271270.
3D structure databases
ProteinModelPortal	Q4LDG9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000310360.
PTM databases
PhosphoSite	Q4LDG9.
Polymorphism databases
DMDM	121944344.
Proteomic databases
PaxDb	Q4LDG9.
PeptideAtlas	Q4LDG9.
PRIDE	Q4LDG9.
Protocols and materials databases
DNASU	83544.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000311089; ENSP00000310360; ENSG00000119661. ENST00000540526; ENSP00000439695; ENSG00000119661. ENST00000553645; ENSP00000452037; ENSG00000119661. ENST00000554871; ENSP00000451834; ENSG00000119661.
GeneID	83544.
KEGG	hsa:83544.
UCSC	uc001xoq.4. human.
Organism-specific databases
CTD	83544.
GeneCards	GC14P074111.
HGNC	HGNC:23247. DNAL1.
HPA	HPA053129.
MIM	610062. gene. 614017. phenotype.
neXtProt	NX_Q4LDG9.
Orphanet	244. Primary ciliary dyskinesia.
PharmGKB	PA162383938.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG4886.
HOGENOM	HOG000230603.
HOVERGEN	HBG081457.
InParanoid	Q4LDG9.
KO	K10411.
OMA	LSTLVNC.
OrthoDB	EOG47PX70.
Gene expression databases
ArrayExpress	Q4LDG9.
Bgee	Q4LDG9.
CleanEx	HS_DNAL1.
Genevestigator	Q4LDG9.
Family and domain databases
InterPro	IPR001611. Leu-rich_rpt. [Graphical view]
PROSITE	PS51450. LRR. 4 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	83544.
NextBio	72471.
SOURCE	Search...

Entry information

Entry name

DNAL1_HUMAN

Accession

Primary (citable) accession number: Q4LDG9
Secondary accession number(s): B2RD38, Q5JPB7, Q9BS43

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 20, 2007
Last sequence update:	August 2, 2005
Last modified:	May 1, 2013
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.