O95447 (LCA5L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Lebercilin-like protein

Alternative name(s):
Leber congenital amaurosis 5-like protein

Gene names

Name:	LCA5L
Synonyms:	C21orf13

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	670 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Belongs to the LCA5 family.
Sequence caution	The sequence CAB90455.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 670	670	Lebercilin-like protein		PRO_0000079507
Regions
	Coiled coil	148 – 259	112	Potential
	Coiled coil	305 – 336	32	Potential
	Coiled coil	420 – 440	21	Potential
Natural variations
	Natural variant	17	1	G → S. Corresponds to variant rs2837029 [ dbSNP | Ensembl ].		VAR_021947
	Natural variant	547	1	G → S. Ref.4 Corresponds to variant rs11558767 [ dbSNP | Ensembl ].		VAR_042739

Sequences

	Sequence		Length	Mass (Da)
	O95447 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: F0EE28F8F5AB70F8	FASTA	670	76,505
	10 20 30 40 50 60 MSLADLTKTN IDEHFFGVAL ENNRRSAACK RSPGTGDFSR NSNASNKSVD YSRSQCSCGS 70 80 90 100 110 120 LSSQYDYSED FLCDCSEKAI NRNYLKQPVV KEKEKKKYNV SKISQSKGQK EISVEKKHTW 130 140 150 160 170 180 NASLFNSQIH MIAQRRDAMA HRILSARLHK IKGLKNELAD MHHKLEAILT ENQFLKQLQL 190 200 210 220 230 240 RHLKAIGKYE NSQNNLPQIM AKHQNEVKNL RQLLRKSQEK ERTLSRKLRE TDSQLLKTKD 250 260 270 280 290 300 ILQALQKLSE DKNLAEREEL THKLSIITTK MDANDKKIQS LEKQLRLNCR AFSRQLAIET 310 320 330 340 350 360 RKTLAAQTAT KTLQVEVKHL QQKLKEKDRE LEIKNIYSHR ILKNLHDTED YPKVSSTKSV 370 380 390 400 410 420 QADRKILPFT SMRHQGTQKS DVPPLTTKGK KATGNIDHKE KSTEINHEIP HCVNKLPKQE 430 440 450 460 470 480 DSKRKYEDLS GEEKHLEVQI LLENTGRQKD KKEDQEKKNI FVKEEQELPP KIIEVIHPER 490 500 510 520 530 540 ESNQEDVLVR EKFKRSMQRN GVDDTLGKGT APYTKGPLRQ RRHYSFTEAT ENLHHGLPAS 550 560 570 580 590 600 GGPANAGNMR YSHSTGKHLS NREEMELEHS DSGYEPSFGK SSRIKVKDTT FRDKKSSLME 610 620 630 640 650 660 ELFGSGYVLK TDQSSPGVAK GSEEPLQSKE SHPLPPSQAS TSHAFGDSKV TVVNSIKPSS 670 PTEGKRKIII

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Rump A., Taudien S., Dagand E., Hildmann T., Nordsiek G., Drescher B., Schattevoy R., Weber J., Schilling M., Menzel U., Yaspo M.-L., Rosenthal A. Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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], VARIANT SER-547. Tissue: Testis.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF121781 Genomic DNA. Translation: AAD12066.1. AL163279 Genomic DNA. Translation: CAB90455.1. Different initiation. CH471079 Genomic DNA. Translation: EAX09641.1. CH471079 Genomic DNA. Translation: EAX09642.1. CH471079 Genomic DNA. Translation: EAX09644.1. BC031059 mRNA. Translation: AAH31059.1. BC043006 mRNA. Translation: AAH43006.1.
IPI	IPI00030741.
RefSeq	NP_689718.1. NM_152505.3.
UniGene	Hs.517284.
3D structure databases
ProteinModelPortal	O95447.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000288350.
PTM databases
PhosphoSite	O95447.
Proteomic databases
PaxDb	O95447.
PRIDE	O95447.
Protocols and materials databases
DNASU	150082.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000288350; ENSP00000288350; ENSG00000157578. ENST00000358268; ENSP00000351008; ENSG00000157578. ENST00000380671; ENSP00000370046; ENSG00000157578.
GeneID	150082.
KEGG	hsa:150082.
UCSC	uc002yxu.3. human.
Organism-specific databases
CTD	150082.
GeneCards	GC21M040777.
HGNC	HGNC:1255. LCA5L.
HPA	HPA019790.
neXtProt	NX_O95447.
PharmGKB	PA162393809.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG82454.
HOGENOM	HOG000037923.
HOVERGEN	HBG051224.
InParanoid	O95447.
OMA	DYPKVSS.
OrthoDB	EOG4W0XCN.
PhylomeDB	O95447.
Gene expression databases
ArrayExpress	O95447.
Bgee	O95447.
CleanEx	HS_LCA5L.
Genevestigator	O95447.
GermOnline	ENSG00000157578. Homo sapiens.
Family and domain databases
InterPro	IPR026188. Lebercilin-like. [Graphical view]
PANTHER	PTHR16650. PTHR16650. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	150082.
NextBio	86316.

Entry information

Entry name

LCA5L_HUMAN

Accession

Primary (citable) accession number: O95447
Secondary accession number(s): D3DSI0, Q3ZCT0

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 1, 1999
Last modified:	April 3, 2013
This is version 83 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.